#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
GREB1	9687	broad.mit.edu	37	2	11750979	11750979	+	Silent	SNP	C	C	T	rs182841070	byFrequency	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:11750979C>T	ENST00000381486.2	+	18	3132	c.2832C>T	c.(2830-2832)tgC>tgT	p.C944C	GREB1_ENST00000396123.1_5'Flank|GREB1_ENST00000234142.5_Silent_p.C944C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	944						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGTGCCCCTGCGGCCACGGGC	0.687													C|||	16	0.00319489	0.0106	0.0029	5008	,	,		16528	0.0		0.0	False		,,,				2504	0.0				Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(2830-2832)tgC>tgT		growth regulation by estrogen in breast cancer 1		C		27,4085		0,27,2029	31.0	35.0	33.0		2832	-1.9	1.0	2		33	2,8386		0,2,4192	no	coding-synonymous	GREB1	NM_014668.3		0,29,6221	TT,TC,CC		0.0238,0.6566,0.232		944/1950	11750979	29,12471	2056	4194	6250	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11750979C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2832C>T	2.37:g.11750979C>T						GREB1_ENST00000234142.5_Silent_p.C944C	p.C944C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	18	3132	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		944					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.2832C>T	CCDS42655.1																																																																																				0.687	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		3	55	0	0	0	1	0	3	55				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		6	58	0	0	0	1	0	6	58				
ZNF236	7776	broad.mit.edu	37	18	74592173	74592173	+	Silent	SNP	C	C	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr18:74592173C>A	ENST00000253159.8	+	8	1281	c.1083C>A	c.(1081-1083)ctC>ctA	p.L361L	ZNF236_ENST00000320610.9_Silent_p.L363L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	361					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCCAGCAGCTCCTGGAGCTCT	0.627																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(1081-1083)ctC>ctA		zinc finger protein 236							38.0	43.0	41.0					18																	74592173		2009	4161	6170	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74592173C>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1083C>A	18.37:g.74592173C>A						ZNF236_ENST00000320610.9_Silent_p.L363L	p.L361L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	8	1281	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	361					B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.1083C>A	CCDS42447.1																																																																																				0.627	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			8	26	1	0	0.00307968	1	0.00326633	8	26				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			4	63	0	0	0	1	0	4	63				
MDM4	4194	broad.mit.edu	37	1	204513776	204513776	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:204513776A>C	ENST00000367182.3	+	9	948	c.786A>C	c.(784-786)caA>caC	p.Q262H	MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000454264.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	262	Asp/Glu-rich (acidic).|Region II.				cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATACTGAACAAACAAGTGAAG	0.363			A		"""GBM, bladder, retinoblastoma"""																																	ENST00000367182.3				Dom	yes		1	1q32	4194	A	Mdm4 p53 binding protein homolog			M			"""GBM, bladder, retinoblastoma"""		0				central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(784-786)caA>caC		Mdm4 p53 binding protein homolog (mouse)							138.0	138.0	138.0					1																	204513776		2203	4300	6503	SO:0001583	missense	4194				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	g.chr1:204513776A>C	AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.786A>C	1.37:g.204513776A>C	ENSP00000356150:p.Gln262His					MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000454264.2_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000507825.2_Intron	p.Q262H	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)		9	948	+	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		262			Asp/Glu-rich (acidic).|Region II.		Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Missense_Mutation	SNP	ENST00000367182.3	37	c.786A>C	CCDS1447.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.041121	0.35989	.	.	ENSG00000198625	ENST00000367182;ENST00000367179	T;T	0.09630	2.96;2.96	5.57	1.89	0.25635	.	0.555351	0.21950	N	0.066744	T	0.06508	0.0167	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31998	-0.9923	10	0.45353	T	0.12	-1.1898	5.2442	0.15488	0.5638:0.284:0.1522:0.0	.	262	O15151	MDM4_HUMAN	H	262;147	ENSP00000356150:Q262H;ENSP00000356147:Q147H	ENSP00000356147:Q147H	Q	+	3	2	MDM4	202780399	0.968000	0.33430	0.865000	0.33974	0.950000	0.60333	0.774000	0.26675	0.070000	0.16634	0.459000	0.35465	CAA		0.363	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2	NM_002393		15	31	0	0	0	1	0	15	31				
BNC1	646	broad.mit.edu	37	15	83932046	83932046	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr15:83932046C>G	ENST00000345382.2	-	4	2042	c.1957G>C	c.(1957-1959)Ggc>Cgc	p.G653R	BNC1_ENST00000569704.1_Missense_Mutation_p.G646R|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	653					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGTTCATGGCCACCATCCTCG	0.557																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(1957-1959)Ggc>Cgc		basonuclin 1							114.0	114.0	114.0					15																	83932046		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83932046C>G	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1957G>C	15.37:g.83932046C>G	ENSP00000307041:p.Gly653Arg					RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.G646R	p.G653R	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			4	2042	-			653					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.1957G>C	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807054	0.31961	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.41400	1.0	4.79	3.87	0.44632	.	0.337474	0.31648	N	0.007294	T	0.36826	0.0981	L	0.51422	1.61	0.19575	N	0.999968	P;P	0.46706	0.773;0.883	B;B	0.43508	0.219;0.422	T	0.16897	-1.0387	10	0.17832	T	0.49	-17.2847	11.2421	0.48974	0.0:0.9153:0.0:0.0846	.	646;653	F5GY04;Q01954	.;BNC1_HUMAN	R	653;646	ENSP00000307041:G653R	ENSP00000307041:G653R	G	-	1	0	BNC1	81723050	0.739000	0.28196	0.016000	0.15963	0.708000	0.40852	1.699000	0.37804	1.222000	0.43521	0.655000	0.94253	GGC		0.557	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		17	54	0	0	0	1	0	17	54				
CRYBB2	1415	broad.mit.edu	37	22	25627721	25627721	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr22:25627721C>T	ENST00000398215.2	+	6	771	c.600C>T	c.(598-600)gcC>gcT	p.A200A		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	200	C-terminal arm.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						AACGTGGTGCCTTCCACCCCT	0.622																																						ENST00000398215.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						c.(598-600)gcC>gcT		crystallin, beta B2							95.0	73.0	80.0					22																	25627721		2203	4300	6503	SO:0001819	synonymous_variant	1415				response to stimulus|visual perception		structural constituent of eye lens	g.chr22:25627721C>T		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.600C>T	22.37:g.25627721C>T							p.A200A	NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN			6	771	+			200			C-terminal arm.		Q9UCM8	Silent	SNP	ENST00000398215.2	37	c.600C>T	CCDS13831.1																																																																																				0.622	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		17	50	0	0	0	1	0	17	50				
NLRP5	126206	broad.mit.edu	37	19	56552353	56552353	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr19:56552353G>A	ENST00000390649.3	+	11	2852	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCAGCAACCGGAGCTTGACA	0.567																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2851-2853)cGg>cAg		NLR family, pyrin domain containing 5							118.0	117.0	117.0					19																	56552353		2035	4216	6251	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56552353G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2852G>A	19.37:g.56552353G>A	ENSP00000375063:p.Arg951Gln						p.R951Q	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	11	2852	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	951					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2852G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	4.033	0.003594	0.07866	.	.	ENSG00000171487	ENST00000390649	T	0.61980	0.06	4.37	-8.74	0.00838	.	1.165660	0.06891	N	0.804302	T	0.24198	0.0586	N	0.01668	-0.77	0.09310	N	1	B	0.18863	0.031	B	0.08055	0.003	T	0.18999	-1.0319	10	0.19590	T	0.45	.	5.4908	0.16774	0.5173:0.0:0.2723:0.2104	.	951	P59047	NALP5_HUMAN	Q	951	ENSP00000375063:R951Q	ENSP00000375063:R951Q	R	+	2	0	NLRP5	61244165	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.220000	0.02971	-2.114000	0.00832	-0.782000	0.03352	CGG		0.567	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		3	113	0	0	0	1	0	3	113				
KIRREL	55243	broad.mit.edu	37	1	158063224	158063224	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:158063224C>T	ENST00000359209.6	+	12	1634	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C	KIRREL_ENST00000360089.4_Missense_Mutation_p.R359C|KIRREL_ENST00000368172.1_Missense_Mutation_p.R337C|KIRREL_ENST00000416935.2_Missense_Mutation_p.R423C|KIRREL_ENST00000392272.2_Missense_Mutation_p.R420C|KIRREL_ENST00000368173.3_Missense_Mutation_p.R539C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	523					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.R359S(1)|p.R539S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCTCTACCGGCGCCGCAAAGG	0.602																																						ENST00000368172.1																			2	Substitution - Missense(2)	p.R359S(1)|p.R539S(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1009-1011)Cgc>Tgc		kin of IRRE like (Drosophila)							126.0	124.0	125.0					1																	158063224		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158063224C>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1567C>T	1.37:g.158063224C>T	ENSP00000352138:p.Arg523Cys					KIRREL_ENST00000359209.6_Missense_Mutation_p.R523C|KIRREL_ENST00000392272.2_Missense_Mutation_p.R420C|KIRREL_ENST00000416935.2_Missense_Mutation_p.R423C|KIRREL_ENST00000368173.3_Missense_Mutation_p.R539C|KIRREL_ENST00000360089.4_Missense_Mutation_p.R359C	p.R337C			Q96J84	KIRR1_HUMAN			8	1021	+	all_hematologic(112;0.0378)		523			Ig-like C2-type 4.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1009C>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	32	5.163967	0.94727	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.72615	0.27;-0.67;-0.06;-0.31;-0.24;0.13	5.71	5.71	0.89125	.	0.000000	0.44097	D	0.000496	T	0.78496	0.4292	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;P;P;P	0.69479	0.964;0.902;0.869;0.869	T	0.80101	-0.1523	10	0.87932	D	0	-22.1428	17.337	0.87285	0.0:1.0:0.0:0.0	.	423;359;337;523	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	C	359;539;420;523;423;337	ENSP00000353202:R359C;ENSP00000357155:R539C;ENSP00000376098:R420C;ENSP00000352138:R523C;ENSP00000389674:R423C;ENSP00000357154:R337C	ENSP00000352138:R523C	R	+	1	0	KIRREL	156329848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.272000	0.78516	2.692000	0.91855	0.491000	0.48974	CGC		0.602	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		20	51	0	0	0	1	0	20	51				
COG7	91949	broad.mit.edu	37	16	23444927	23444927	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr16:23444927A>G	ENST00000307149.5	-	6	934	c.749T>C	c.(748-750)cTt>cCt	p.L250P		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	250					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GAGTCCGGTAAGCTGCCGGTC	0.507																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(748-750)cTt>cCt		component of oligomeric golgi complex 7							101.0	91.0	94.0					16																	23444927		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23444927A>G	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.749T>C	16.37:g.23444927A>G	ENSP00000305442:p.Leu250Pro						p.L250P	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	6	934	-			250					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.749T>C	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.683675	0.68157	.	.	ENSG00000168434	ENST00000307149	T	0.69806	-0.43	5.04	5.04	0.67666	.	0.065952	0.64402	D	0.000007	T	0.80226	0.4584	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82094	-0.0627	10	0.59425	D	0.04	-22.6288	13.9472	0.64091	1.0:0.0:0.0:0.0	.	250	P83436	COG7_HUMAN	P	250	ENSP00000305442:L250P	ENSP00000305442:L250P	L	-	2	0	COG7	23352428	1.000000	0.71417	0.958000	0.39756	0.541000	0.35023	8.296000	0.89940	1.891000	0.54761	0.533000	0.62120	CTT		0.507	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			9	43	0	0	0	1	0	9	43				
MTUS1	57509	broad.mit.edu	37	8	17611561	17611561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr8:17611561G>A	ENST00000262102.6	-	2	1980	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	MTUS1_ENST00000381869.3_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000381862.3_Nonsense_Mutation_p.Q586*	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	586					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGCACAGCCTGGCTAGTAATG	0.398																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(1756-1758)Cag>Tag		microtubule associated tumor suppressor 1							241.0	219.0	226.0					8																	17611561		1884	4109	5993	SO:0001587	stop_gained	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611561G>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1756C>T	8.37:g.17611561G>A	ENSP00000262102:p.Gln586*					MTUS1_ENST00000381862.3_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000262102.6_Nonsense_Mutation_p.Q586*	p.Q586*	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2229	-			586					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Nonsense_Mutation	SNP	ENST00000262102.6	37	c.1756C>T	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	43	10.447850	0.99407	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	.	.	.	4.95	4.95	0.65309	.	0.230909	0.29529	N	0.011884	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-14.7751	18.3502	0.90336	0.0:0.0:1.0:0.0	.	.	.	.	X	586	.	ENSP00000262102:Q586X	Q	-	1	0	MTUS1	17655841	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.719000	0.61937	2.741000	0.93983	0.650000	0.86243	CAG		0.398	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		8	118	0	0	0	1	0	8	118				
CTNNB1	1499	broad.mit.edu	37	3	41266097	41266097	+	Missense_Mutation	SNP	G	G	T	rs28931588|rs121913416|rs121913417		TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:41266097G>T	ENST00000349496.5	+	3	374	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|D -> G (in PTR and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629}.|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:9927029}.|Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GTCTTACCTGGACTCTGGAAT	0.478	D32N(KE39_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	D32N(KE39_STOMACH)	15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	397	Substitution - Missense(250)|Deletion - In frame(120)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)|Complex - frameshift(1)	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	liver(155)|central_nervous_system(55)|endometrium(40)|stomach(36)|pancreas(28)|large_intestine(22)|pituitary(22)|skin(11)|ovary(9)|soft_tissue(4)|prostate(4)|small_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|adrenal_gland(1)|biliary_tract(1)|urinary_tract(1)|lung(1)|NS(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(94-96)Gac>Tac		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						92.0	77.0	82.0					3																	41266097		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266097G>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.94G>T	3.37:g.41266097G>T	ENSP00000344456:p.Asp32Tyr					CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32Y	p.D32Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	374	+			32		D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.94G>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337485	0.81911	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.68210	0.2976	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.70498	-0.4855	10	0.87932	D	0	0.3843	19.9596	0.97236	0.0:0.0:1.0:0.0	rs28931588	32	P35222	CTNB1_HUMAN	Y	25;32;32;32;32;25;32;32;32	ENSP00000400508:D25Y;ENSP00000385604:D32Y;ENSP00000412219:D32Y;ENSP00000379486:D32Y;ENSP00000344456:D32Y;ENSP00000411226:D25Y;ENSP00000379488:D32Y;ENSP00000409302:D32Y;ENSP00000401599:D32Y	ENSP00000344456:D32Y	D	+	1	0	CTNNB1	41241101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GAC		0.478	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		5	28	1	0	0.184627	1	0.187303	5	28				
ANAPC2	29882	broad.mit.edu	37	9	140070252	140070252	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:140070252A>G	ENST00000323927.2	-	11	1932	c.1928T>C	c.(1927-1929)cTg>cCg	p.L643P	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	643					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CATGGTCACCAGGCCCAGGGT	0.662																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(1927-1929)cTg>cCg		anaphase promoting complex subunit 2							61.0	46.0	51.0					9																	140070252		2196	4297	6493	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140070252A>G	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1928T>C	9.37:g.140070252A>G	ENSP00000314004:p.Leu643Pro					ANAPC2_ENST00000487917.1_5'UTR	p.L643P	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	11	1932	-	all_cancers(76;0.0926)		643					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.1928T>C	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.602755	0.66445	.	.	ENSG00000176248	ENST00000323927	T	0.74421	-0.84	4.43	4.43	0.53597	Cullin, N-terminal (1);Cullin homology (3);	0.078453	0.53938	D	0.000048	T	0.81740	0.4886	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.68621	0.959;0.931	T	0.80690	-0.1270	10	0.36615	T	0.2	-13.8808	11.6676	0.51383	1.0:0.0:0.0:0.0	.	643;640	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	P	643	ENSP00000314004:L643P	ENSP00000314004:L643P	L	-	2	0	ANAPC2	139190073	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.170000	0.71920	1.864000	0.54056	0.374000	0.22700	CTG		0.662	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		2	11	0	0	0	1	0	2	11				
MMRN2	79812	broad.mit.edu	37	10	88702336	88702336	+	Silent	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr10:88702336G>A	ENST00000372027.5	-	6	2526	c.2205C>T	c.(2203-2205)aaC>aaT	p.N735N	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	735					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGAAGAGTGCGTTGTGGAGGC	0.657																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(2203-2205)aaC>aaT		multimerin 2							49.0	48.0	48.0					10																	88702336		2203	4300	6503	SO:0001819	synonymous_variant	79812					extracellular space		g.chr10:88702336G>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2205C>T	10.37:g.88702336G>A							p.N735N	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	2278	-			735					Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	c.2205C>T	CCDS7379.1																																																																																				0.657	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		3	33	0	0	0	1	0	3	33				
PCDH18	54510	broad.mit.edu	37	4	138442613	138442613	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr4:138442613T>A	ENST00000344876.4	-	4	3364	c.2978A>T	c.(2977-2979)gAt>gTt	p.D993V	PCDH18_ENST00000412923.2_Missense_Mutation_p.D992V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D772V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D173V|PCDH18_ENST00000510305.1_Missense_Mutation_p.D204V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	993	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGTGTCCTCATCGTTTGGGGA	0.512																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2977-2979)gAt>gTt		protocadherin 18							87.0	77.0	80.0					4																	138442613		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442613T>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2978A>T	4.37:g.138442613T>A	ENSP00000355082:p.Asp993Val					PCDH18_ENST00000412923.2_Missense_Mutation_p.D992V|PCDH18_ENST00000510305.1_Missense_Mutation_p.D204V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D772V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D173V	p.D993V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			4	3364	-	all_hematologic(180;0.24)		993			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2978A>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.257399	0.22965	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.55413	0.61;0.61;0.52;1.44;1.43	4.97	4.97	0.65823	.	0.497313	0.16345	N	0.218472	T	0.49167	0.1541	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.31548	0.328;0.011;0.019;0.011	B;B;B;B	0.35607	0.206;0.01;0.041;0.018	T	0.51301	-0.8723	10	0.56958	D	0.05	.	14.6737	0.68964	0.0:0.0:0.0:1.0	.	173;772;992;993	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	V	993;992;772;204;173	ENSP00000355082:D993V;ENSP00000390688:D992V;ENSP00000425903:D772V;ENSP00000424269:D204V;ENSP00000425647:D173V	ENSP00000355082:D993V	D	-	2	0	PCDH18	138662063	0.999000	0.42202	0.006000	0.13384	0.182000	0.23217	6.355000	0.73041	1.873000	0.54277	0.533000	0.62120	GAT		0.512	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		17	48	0	0	0	1	0	17	48				
ABLIM1	3983	broad.mit.edu	37	10	116361630	116361630	+	Missense_Mutation	SNP	C	C	T	rs145417841	byFrequency	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr10:116361630C>T	ENST00000277895.5	-	2	432	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	ABLIM1_ENST00000477638.1_5'UTR|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R52Q|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R52Q	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	112	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGTCTGGACCCGAAGCACTTC	0.547																																						ENST00000369252.4																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(154-156)cGg>cAg		actin binding LIM protein 1		C	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	145.0	126.0	132.0		155,155,335	5.4	1.0	10	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ABLIM1	NM_001003407.1,NM_001003408.1,NM_002313.5	43,43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	52/719,52/747,112/779	116361630	2,13004	2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116361630C>T	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.335G>A	10.37:g.116361630C>T	ENSP00000277895:p.Arg112Gln					ABLIM1_ENST00000477638.1_5'UTR|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R52Q|ABLIM1_ENST00000277895.5_Missense_Mutation_p.R112Q	p.R52Q	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	2	456	-		Colorectal(252;0.0373)|Breast(234;0.231)	112					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.155G>A	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.626160|5.626160	0.96671|0.96671	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895	.|D;D;D	.|0.87491	.|-2.26;-2.26;-2.26	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Zinc finger, LIM-type (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92993|0.92993	0.7770|0.7770	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;0.996;1.0;1.0;0.999;1.0	.|D;D;D;D;D;D	.|0.78314	.|0.987;0.98;0.99;0.991;0.98;0.99	D|D	0.93428|0.93428	0.6783|0.6783	5|10	.|0.87932	.|D	.|0	.|.	19.2779|19.2779	0.94039|0.94039	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|36;52;52;112;52;112	.|B7Z4H1;F8W8M4;A6NKJ2;O14639;B3KVH2;A6NCD9	.|.;.;.;ABLM1_HUMAN;.;.	R|Q	48|112;52;52;52;112;36;36;36;112	.|ENSP00000358256:R52Q;ENSP00000433629:R52Q;ENSP00000277895:R112Q	.|ENSP00000277895:R112Q	G|R	-|-	1|2	0|0	ABLIM1|ABLIM1	116351620|116351620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.553000|2.553000	0.86117|0.86117	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.547	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			6	86	0	0	0	1	0	6	86				
TUBB6	84617	broad.mit.edu	37	18	12325161	12325161	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr18:12325161G>A	ENST00000317702.5	+	4	607	c.373G>A	c.(373-375)Gag>Aag	p.E125K	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591208.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	125					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GAAGGAGTGCGAGCACTGCGA	0.672																																						ENST00000317702.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14						c.(373-375)Gag>Aag		tubulin, beta 6 class V							101.0	84.0	90.0					18																	12325161		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325161G>A	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.373G>A	18.37:g.12325161G>A	ENSP00000318697:p.Glu125Lys					TUBB6_ENST00000591208.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000591909.1_Intron	p.E125K			Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	607	+			125					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.373G>A	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772881	0.49680	.	.	ENSG00000176014	ENST00000317702;ENST00000417736	T	0.79247	-1.25	5.08	5.08	0.68730	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.87192	0.6116	H	0.97240	3.965	0.80722	D	1	P	0.46512	0.879	B	0.41988	0.372	D	0.92098	0.5686	10	0.87932	D	0	.	18.8254	0.92115	0.0:0.0:1.0:0.0	.	125	Q9BUF5	TBB6_HUMAN	K	125;53	ENSP00000318697:E125K	ENSP00000318697:E125K	E	+	1	0	TUBB6	12315161	1.000000	0.71417	0.992000	0.48379	0.458000	0.32498	9.675000	0.98638	2.528000	0.85240	0.491000	0.48974	GAG		0.672	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		24	71	0	0	0	1	0	24	71				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	4	1	0	0.004672	1	0.00480941	3	4				
DCHS1	8642	broad.mit.edu	37	11	6650985	6650985	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr11:6650985C>T	ENST00000299441.3	-	11	5364	c.4953G>A	c.(4951-4953)caG>caA	p.Q1651Q	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1651	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)		TGTACTCCTGCTGCTGGAAAG	0.657																																						ENST00000299441.3																			0				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.(4951-4953)caG>caA		dachsous cadherin-related 1							40.0	41.0	41.0					11																	6650985		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6650985C>T	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.4953G>A	11.37:g.6650985C>T							p.Q1651Q	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	5364	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1651			Cadherin 16.		O15098	Silent	SNP	ENST00000299441.3	37	c.4953G>A	CCDS7771.1																																																																																				0.657	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		18	20	0	0	0	1	0	18	20				
ITLN1	55600	broad.mit.edu	37	1	160851965	160851965	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:160851965C>T	ENST00000326245.3	-	4	302	c.187G>A	c.(187-189)Ggt>Agt	p.G63S	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	63	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TAGATAACACCATTCTCAGTG	0.557																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(187-189)Ggt>Agt		intelectin 1 (galactofuranose binding)							85.0	75.0	78.0					1																	160851965		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160851965C>T	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.187G>A	1.37:g.160851965C>T	ENSP00000323587:p.Gly63Ser						p.G63S	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	302	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		63			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.187G>A	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347463	0.61183	.	.	ENSG00000179914	ENST00000326245	D	0.93366	-3.21	4.17	2.29	0.28610	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.082034	0.47093	D	0.000249	D	0.88280	0.6394	L	0.46670	1.46	0.47065	D	0.999306	P	0.48503	0.911	P	0.50860	0.652	D	0.85382	0.1120	10	0.41790	T	0.15	-6.8108	8.0482	0.30562	0.0:0.7963:0.0:0.2037	.	63	Q8WWA0	ITLN1_HUMAN	S	63	ENSP00000323587:G63S	ENSP00000323587:G63S	G	-	1	0	ITLN1	159118589	0.775000	0.28604	0.383000	0.26132	0.675000	0.39556	2.882000	0.48546	0.399000	0.25367	0.655000	0.94253	GGT		0.557	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		17	40	0	0	0	1	0	17	40				
PLA2G7	7941	broad.mit.edu	37	6	46684800	46684800	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr6:46684800G>A	ENST00000274793.7	-	3	339	c.143C>T	c.(142-144)gCt>gTt	p.A48V	PLA2G7_ENST00000537365.1_Missense_Mutation_p.A48V|PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000538237.1_Missense_Mutation_p.A3V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	48					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AAAGCTTGCAGCAGCCATCAG	0.368																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(142-144)gCt>gTt		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							126.0	121.0	123.0					6																	46684800		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46684800G>A	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.143C>T	6.37:g.46684800G>A	ENSP00000274793:p.Ala48Val					PLA2G7_ENST00000538237.1_Missense_Mutation_p.A3V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.A48V|PLA2G7_ENST00000541026.1_Intron	p.A48V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		3	339	-			48					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.143C>T	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668089	0.47677	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237	T;T;T	0.46063	0.88;0.88;1.9	6.03	6.03	0.97812	.	0.323851	0.37261	N	0.002174	T	0.22859	0.0552	L	0.53249	1.67	0.80722	D	1	P;P;P	0.39352	0.617;0.669;0.669	B;B;B	0.33960	0.173;0.123;0.123	T	0.03969	-1.0988	10	0.15499	T	0.54	.	16.0754	0.80965	0.0:0.0:1.0:0.0	.	3;48;48	F5GYY6;A8K2W6;Q13093	.;.;PAFA_HUMAN	V	48;48;3	ENSP00000274793:A48V;ENSP00000445666:A48V;ENSP00000441416:A3V	ENSP00000274793:A48V	A	-	2	0	PLA2G7	46792759	0.002000	0.14202	0.444000	0.26895	0.211000	0.24417	0.799000	0.27028	2.868000	0.98415	0.557000	0.71058	GCT		0.368	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			3	92	0	0	0	1	0	3	92				
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	byFrequency	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173				TPTE2P6_ENST00000440905.1_RNA																							TTTTCTCTTCGGTGAGTAATC	0.388													.|||	851	0.169928	0.1914	0.183	5008	,	,		15991	0.0982		0.2634	False		,,,				2504	0.1094					ENST00000453498.1																			0																																																			0							g.chr13:25168501G>A																													13.37:g.25168501G>A														0	1173	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.388	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	33	0	0	0	1	0	3	33				
ABCC9	10060	broad.mit.edu	37	12	22012551	22012551	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr12:22012551G>A	ENST00000261201.4	-	20	2473	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	ABCC9_ENST00000261200.4_Missense_Mutation_p.A825V|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.A789V	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	825	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTGATACAGCGCTCGTGCCAC	0.403																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2473-2475)gCg>gTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						190.0	188.0	189.0					12																	22012551		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22012551G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2474C>T	12.37:g.22012551G>A	ENSP00000261201:p.Ala825Val					ABCC9_ENST00000261201.4_Missense_Mutation_p.A825V|ABCC9_ENST00000345162.2_Missense_Mutation_p.A789V|RP11-729I10.2_ENST00000539874.1_RNA	p.A825V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			20	2473	-			825			ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2474C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975131	0.92919	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	4.71	4.71	0.59529	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95931	0.8675	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.984	D	0.96485	0.9359	10	0.87932	D	0	-14.2169	17.8397	0.88712	0.0:0.0:1.0:0.0	.	825;825	O60706;O60706-2	ABCC9_HUMAN;.	V	825;452;825;789	ENSP00000261200:A825V;ENSP00000440521:A452V;ENSP00000261201:A825V;ENSP00000261202:A789V	ENSP00000261200:A825V	A	-	2	0	ABCC9	21903818	1.000000	0.71417	0.996000	0.52242	0.866000	0.49608	9.640000	0.98453	2.449000	0.82847	0.467000	0.42956	GCG		0.403	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		3	80	0	0	0	1	0	3	80				
PDE4DIP	9659	broad.mit.edu	37	1	144930736	144930736	+	Intron	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:144930736C>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.G325S|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G325S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGCTAGGGCCAGGCTTGGCT	0.498			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(973-975)Ggc>Agc		phosphodiesterase 4D interacting protein							110.0	116.0	114.0					1																	144930736		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144930736C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-6915G>A	1.37:g.144930736C>T						PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G325S|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron	p.G325S			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	1412	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.973G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360841	0.41801	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.10960	2.83;2.82	5.58	4.67	0.58626	.	.	.	.	.	T	0.02119	0.0066	L	0.31294	0.92	0.80722	D	1	P	0.38335	0.627	B	0.32211	0.142	T	0.39542	-0.9609	9	0.10111	T	0.7	.	8.7246	0.34460	0.0:0.829:0.0:0.171	.	325	Q5VU43-2	.	S	325	ENSP00000316434:G325S;ENSP00000433392:G325S	ENSP00000316434:G325S	G	-	1	0	PDE4DIP	143642093	0.972000	0.33761	1.000000	0.80357	0.960000	0.62799	0.391000	0.20784	1.374000	0.46228	0.650000	0.86243	GGC		0.498	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		7	103	0	0	0	1	0	7	103				
ACTR3	10096	broad.mit.edu	37	2	114714958	114714958	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:114714958C>G	ENST00000263238.2	+	12	1503	c.1183C>G	c.(1183-1185)Cac>Gac	p.H395D	ACTR3_ENST00000536059.1_Missense_Mutation_p.H333D|ACTR3_ENST00000535589.2_Missense_Mutation_p.H344D	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	395					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CCAAGTATGCCACACCAAAAA	0.338																																						ENST00000263238.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						c.(1183-1185)Cac>Gac		ARP3 actin-related protein 3 homolog (yeast)							123.0	116.0	118.0					2																	114714958		2203	4300	6503	SO:0001583	missense	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114714958C>G	AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.1183C>G	2.37:g.114714958C>G	ENSP00000263238:p.His395Asp					ACTR3_ENST00000536059.1_Missense_Mutation_p.H333D|ACTR3_ENST00000535589.2_Missense_Mutation_p.H344D	p.H395D	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN			12	1503	+			395					P32391|Q53QM2	Missense_Mutation	SNP	ENST00000263238.2	37	c.1183C>G	CCDS33277.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668627	0.67814	.	.	ENSG00000115091	ENST00000263238;ENST00000536059;ENST00000544784;ENST00000535589	D;D;D	0.94280	-3.39;-3.39;-3.39	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.97598	0.9213	M	0.94101	3.495	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.78314	0.964;0.991	D	0.98192	1.0463	10	0.59425	D	0.04	-22.8111	18.4573	0.90725	0.0:1.0:0.0:0.0	.	333;395	F5H3P5;P61158	.;ARP3_HUMAN	D	395;333;266;344	ENSP00000263238:H395D;ENSP00000445257:H333D;ENSP00000444987:H344D	ENSP00000263238:H395D	H	+	1	0	ACTR3	114431428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.580000	0.82523	2.582000	0.87167	0.655000	0.94253	CAC		0.338	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721		6	47	0	0	0	1	0	6	47				
PARP14	54625	broad.mit.edu	37	3	122447397	122447397	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:122447397T>G	ENST00000474629.2	+	17	5625	c.5359T>G	c.(5359-5361)Tat>Gat	p.Y1787D		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1787	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGTGGCATTTTATGACTACCA	0.363																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(5359-5361)Tat>Gat		poly (ADP-ribose) polymerase family, member 14							161.0	156.0	158.0					3																	122447397		1890	4118	6008	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122447397T>G	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5359T>G	3.37:g.122447397T>G	ENSP00000418194:p.Tyr1787Asp						p.Y1787D	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	17	5625	+			1787			PARP catalytic.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.5359T>G	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.615845	0.46631	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.10288	2.89	6.01	4.79	0.61399	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.211286	0.30547	N	0.009383	T	0.16214	0.0390	N	0.25957	0.775	0.32955	D	0.520259	D	0.67145	0.996	D	0.64595	0.927	T	0.07751	-1.0756	10	0.38643	T	0.18	.	8.9168	0.35587	0.2866:0.0:0.0:0.7134	.	1787	Q460N5	PAR14_HUMAN	D	1787;1706;783	ENSP00000418194:Y1787D	ENSP00000381224:Y783D	Y	+	1	0	PARP14	123930087	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.901000	0.28445	2.299000	0.77371	0.533000	0.62120	TAT		0.363	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		28	77	0	0	0	1	0	28	77				
DDX31	64794	broad.mit.edu	37	9	135517391	135517391	+	Splice_Site	SNP	C	C	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:135517391C>A	ENST00000372159.3	-	14	1906	c.1755G>T	c.(1753-1755)acG>acT	p.T585T	DDX31_ENST00000438527.3_Splice_Site_p.T456T|DDX31_ENST00000310532.2_Splice_Site_p.T585T|DDX31_ENST00000372153.1_Splice_Site_p.T585T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	585	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GGATACGTACCGTGCAAAGAA	0.438																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.e14+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							140.0	109.0	120.0					9																	135517391		2203	4300	6503	SO:0001630	splice_region_variant	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135517391C>A	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1755+1G>T	9.37:g.135517391C>A						DDX31_ENST00000438527.3_Splice_Site_p.T456_splice|DDX31_ENST00000372153.1_Splice_Site_p.T585_splice|DDX31_ENST00000310532.2_Splice_Site_p.T585_splice	p.T585_splice	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	14	1906	-			585			Helicase C-terminal.		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Splice_Site	SNP	ENST00000372159.3	37	c.1755_splice	CCDS6951.1																																																																																				0.438	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620	Silent	6	26	1	0	3.59834e-05	1	3.93568e-05	6	26				
ERCC3	2071	broad.mit.edu	37	2	128050246	128050246	+	Silent	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:128050246G>A	ENST00000285398.2	-	3	505	c.411C>T	c.(409-411)acC>acT	p.T137T	ERCC3_ENST00000493187.2_Silent_p.T73T	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	137					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGAGGTACTCGGTGATGTCAC	0.517			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(217-219)acC>acT	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							109.0	98.0	102.0					2																	128050246		2203	4300	6503	SO:0001819	synonymous_variant	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128050246G>A	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.411C>T	2.37:g.128050246G>A						ERCC3_ENST00000285398.2_Silent_p.T137T	p.T73T			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	3	682	-	Colorectal(110;0.1)		137					Q53QM0	Silent	SNP	ENST00000285398.2	37	c.219C>T	CCDS2144.1																																																																																				0.517	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		9	42	0	0	0	1	0	9	42				
PRDM16	63976	broad.mit.edu	37	1	3342257	3342257	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:3342257G>A	ENST00000270722.5	+	13	3101	c.3052G>A	c.(3052-3054)Ggg>Agg	p.G1018R	PRDM16_ENST00000378398.3_Missense_Mutation_p.G1018R|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.G1018R|PRDM16_ENST00000442529.2_Missense_Mutation_p.G1017R|PRDM16_ENST00000511072.1_Missense_Mutation_p.G1019R|PRDM16_ENST00000514189.1_Missense_Mutation_p.G1018R|PRDM16_ENST00000441472.2_Missense_Mutation_p.G1017R			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1018	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCGCTGCTTCGGGCAGCAGAC	0.642			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(3052-3054)Ggg>Agg		PR domain containing 16							75.0	87.0	83.0					1																	3342257		2126	4241	6367	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3342257G>A	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.3052G>A	1.37:g.3342257G>A	ENSP00000270722:p.Gly1018Arg					PRDM16_ENST00000378391.2_Missense_Mutation_p.G1018R|PRDM16_ENST00000514189.1_Missense_Mutation_p.G1018R|PRDM16_ENST00000511072.1_Missense_Mutation_p.G1019R|PRDM16_ENST00000442529.2_Missense_Mutation_p.G1017R|PRDM16_ENST00000441472.2_Missense_Mutation_p.G1017R|PRDM16_ENST00000270722.5_Missense_Mutation_p.G1018R|PRDM16_ENST00000512462.1_3'UTR	p.G1018R			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	14	3134	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	1018			Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.3052G>A	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721377	0.89298	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23	4.01	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	U	0.000166	T	0.16896	0.0406	N	0.02011	-0.69	0.80722	D	1	P;P;D;P	0.61697	0.832;0.839;0.99;0.948	B;B;D;P	0.65010	0.176;0.347;0.931;0.597	T	0.51663	-0.8677	10	0.59425	D	0.04	.	16.0946	0.81112	0.0:0.0:1.0:0.0	.	1018;1018;1017;1017	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	R	1019;1018;1017;1017;1018;1018;1018;834;834;826	ENSP00000426975:G1019R;ENSP00000367651:G1018R;ENSP00000407968:G1017R;ENSP00000405253:G1017R;ENSP00000367643:G1018R;ENSP00000421400:G1018R;ENSP00000270722:G1018R;ENSP00000422504:G834R;ENSP00000425796:G826R	ENSP00000270722:G1018R	G	+	1	0	PRDM16	3332117	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.664000	0.98607	1.776000	0.52262	0.455000	0.32223	GGG		0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		15	65	0	0	0	1	0	15	65				
COL7A1	1294	broad.mit.edu	37	3	48628922	48628922	+	Silent	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:48628922G>A	ENST00000328333.8	-	12	1718	c.1611C>T	c.(1609-1611)taC>taT	p.Y537Y	COL7A1_ENST00000454817.1_Silent_p.Y537Y	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	537	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAATGATGCGGTACTGGGTGG	0.652																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(1609-1611)taC>taT		collagen, type VII, alpha 1							62.0	67.0	65.0					3																	48628922		2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48628922G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1611C>T	3.37:g.48628922G>A						COL7A1_ENST00000454817.1_Silent_p.Y537Y	p.Y537Y	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	12	1718	-			537			Fibronectin type-III 4.|Nonhelical region (NC1).		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.1611C>T	CCDS2773.1																																																																																				0.652	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		3	94	0	0	0	1	0	3	94				
ATP13A3	79572	broad.mit.edu	37	3	194169231	194169231	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:194169231G>A	ENST00000439040.1	-	12	1896	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R369C			Q9H7F0	AT133_HUMAN	ATPase type 13A3	369						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GTGTAGAAACGAGTCTGAATA	0.348																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1105-1107)Cgt>Tgt		ATPase type 13A3							158.0	143.0	148.0					3																	194169231		1865	4101	5966	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194169231G>A	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1105C>T	3.37:g.194169231G>A	ENSP00000416508:p.Arg369Cys					ATP13A3_ENST00000256031.4_Missense_Mutation_p.R369C	p.R369C			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	12	1896	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	369					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.1105C>T	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673417	0.88445	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.91351	-2.83;-2.83	5.55	5.55	0.83447	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96528	0.8867	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97208	0.9869	10	0.72032	D	0.01	-3.6682	14.4133	0.67132	0.0:0.0:0.8524:0.1476	.	369	Q9H7F0	AT133_HUMAN	C	369;369;107	ENSP00000416508:R369C;ENSP00000256031:R369C	ENSP00000256031:R369C	R	-	1	0	ATP13A3	195650520	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.995000	0.93534	2.597000	0.87782	0.650000	0.86243	CGT		0.348	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		12	86	0	0	0	1	0	12	86				
RNF144A	9781	broad.mit.edu	37	2	7160686	7160686	+	Silent	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:7160686G>A	ENST00000320892.6	+	6	826	c.384G>A	c.(382-384)caG>caA	p.Q128Q	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	128					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGGGGCTGCAGACCCCCCAGC	0.627																																						ENST00000320892.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.(382-384)caG>caA		ring finger protein 144A							69.0	66.0	67.0					2																	7160686		2203	4300	6503	SO:0001819	synonymous_variant	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7160686G>A	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.384G>A	2.37:g.7160686G>A						RNF144A_ENST00000467276.1_3'UTR	p.Q128Q	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	6	826	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	128					D6W4Y6|Q585H5	Silent	SNP	ENST00000320892.6	37	c.384G>A	CCDS1657.1	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093413	0.20471	.	.	ENSG00000151692	ENST00000432850	.	.	.	5.24	2.39	0.29439	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53107	-0.8485	4	.	.	.	.	9.1513	0.36965	0.1396:0.1229:0.7375:0.0	.	.	.	.	K	124	.	.	R	+	2	0	RNF144A	7078137	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.625000	0.24477	0.696000	0.31696	0.561000	0.74099	AGA		0.627	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		14	70	0	0	0	1	0	14	70				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	31	0	0	0	1	0	4	31				
TUBB8P7	197331	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr16:90162579C>T	ENST00000564451.1	+	0	1932				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		AGGAGTATGCCGAGGAGGAGG	0.512																																						ENST00000567960.1																			0																																																			0							g.chr16:90162579C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162579C>T						TUBB8P7_ENST00000564451.1_RNA								0	1315	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.512	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	122	0	0	0	1	0	3	122				
PHF23	79142	broad.mit.edu	37	17	7140001	7140001	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:7140001G>A	ENST00000320316.3	-	4	471	c.245C>T	c.(244-246)tCa>tTa	p.S82L	PHF23_ENST00000571362.1_Intron|PHF23_ENST00000454255.2_Missense_Mutation_p.S78L|PHF23_ENST00000570753.1_5'UTR|DVL2_ENST00000575458.1_5'Flank|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000576955.1_5'UTR	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	82							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TCGAAGATCTGAGGGGGCCGA	0.572																																						ENST00000320316.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(244-246)tCa>tTa		PHD finger protein 23							88.0	97.0	94.0					17																	7140001		1931	4140	6071	SO:0001583	missense	79142						zinc ion binding	g.chr17:7140001G>A	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.245C>T	17.37:g.7140001G>A	ENSP00000322579:p.Ser82Leu					PHF23_ENST00000571362.1_Intron|PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000454255.2_Missense_Mutation_p.S78L	p.S82L	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN			4	471	-			82					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.245C>T	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160258	0.57368	.	.	ENSG00000040633	ENST00000320316;ENST00000454255;ENST00000043410	T;T	0.38401	1.14;1.19	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000003	T	0.45716	0.1356	L	0.43923	1.385	0.47123	D	0.999328	D	0.61697	0.99	P	0.60068	0.868	T	0.41875	-0.9484	10	0.87932	D	0	-8.6636	10.4478	0.44505	0.0:0.0:0.8057:0.1943	.	82	Q9BUL5	PHF23_HUMAN	L	82;78;82	ENSP00000322579:S82L;ENSP00000414607:S78L	ENSP00000043410:S82L	S	-	2	0	PHF23	7080725	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.956000	0.63645	2.488000	0.83962	0.557000	0.71058	TCA		0.572	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		24	98	0	0	0	1	0	24	98				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		3	69	0	0	0	1	0	3	69				
MFAP5	8076	broad.mit.edu	37	12	8800751	8800751	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr12:8800751C>T	ENST00000359478.2	-	10	645	c.458G>A	c.(457-459)cGc>cAc	p.R153H	MFAP5_ENST00000540087.1_Missense_Mutation_p.R143H|MFAP5_ENST00000535336.1_Missense_Mutation_p.R89H|MFAP5_ENST00000396549.2_Missense_Mutation_p.R143H|MFAP5_ENST00000433590.2_Missense_Mutation_p.R128H|MFAP5_ENST00000543369.1_Missense_Mutation_p.R131H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	153					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)	p.R153H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GTAATTGGAGCGACGGAGTCT	0.463																																						ENST00000359478.2																			1	Substitution - Missense(1)	p.R153H(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13						c.(457-459)cGc>cAc		microfibrillar associated protein 5							80.0	78.0	79.0					12																	8800751		2203	4300	6503	SO:0001583	missense	8076					microfibril	extracellular matrix structural constituent	g.chr12:8800751C>T	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.458G>A	12.37:g.8800751C>T	ENSP00000352455:p.Arg153His					MFAP5_ENST00000540087.1_Missense_Mutation_p.R143H|MFAP5_ENST00000543369.1_Missense_Mutation_p.R131H|MFAP5_ENST00000433590.2_Missense_Mutation_p.R128H|MFAP5_ENST00000535336.1_Missense_Mutation_p.R89H|MFAP5_ENST00000396549.2_Missense_Mutation_p.R143H	p.R153H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN			10	645	-	Lung SC(5;0.184)		153					B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	c.458G>A	CCDS8595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.592419|4.592419	0.86953|0.86953	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000535411|ENST00000543467;ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000535336;ENST00000540087	.|.	.|.	.|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.157344	.|0.45126	.|D	.|0.000397	T|T	0.61578|0.61578	0.2358|0.2358	L|L	0.32530|0.32530	0.975|0.975	0.34045|0.34045	D|D	0.655471|0.655471	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.996;0.996;0.996	T|T	0.71553|0.71553	-0.4558|-0.4558	5|9	.|0.87932	.|D	.|0	-24.1146|-24.1146	13.5224|13.5224	0.61576|0.61576	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|128;153;143	.|B3KW70;Q13361;Q7Z490	.|.;MFAP5_HUMAN;.	T|H	143|59;153;128;143;131;89;143	.|.	.|ENSP00000352455:R153H	A|R	-|-	1|2	0|0	MFAP5|MFAP5	8692018|8692018	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.976000|0.976000	0.68499|0.68499	3.696000|3.696000	0.54757|0.54757	2.646000|2.646000	0.89796|0.89796	0.563000|0.563000	0.77884|0.77884	GCT|CGC		0.463	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		7	22	0	0	0	1	0	7	22				
ZNF782	158431	broad.mit.edu	37	9	99581089	99581089	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:99581089T>A	ENST00000481138.1	-	6	1877	c.1216A>T	c.(1216-1218)Aag>Tag	p.K406*	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Nonsense_Mutation_p.K274*	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				AGGCGTGACTTCTCACTGAAG	0.443																																						ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(1216-1218)Aag>Tag		zinc finger protein 782							124.0	120.0	121.0					9																	99581089		2203	4300	6503	SO:0001587	stop_gained	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581089T>A	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1216A>T	9.37:g.99581089T>A	ENSP00000419397:p.Lys406*					ZNF782_ENST00000535338.1_Nonsense_Mutation_p.K274*	p.K406*	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	1877	-		Acute lymphoblastic leukemia(62;0.0527)	406					B2RNR0	Nonsense_Mutation	SNP	ENST00000481138.1	37	c.1216A>T	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.83|17.83	3.486005|3.486005	0.63962|0.63962	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000289032|ENST00000481138;ENST00000535338	T|.	0.06768|.	3.26|.	3.33|3.33	3.33|3.33	0.38152|0.38152	.|.	.|0.000000	.|0.35207	.|N	.|0.003362	T|.	0.55401|.	0.1918|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.52697|.	-0.8541|.	6|.	0.38643|.	T|.	0.18|.	.|.	6.7893|6.7893	0.23692|0.23692	0.0:0.0:0.2405:0.7595|0.0:0.0:0.2405:0.7595	.|.	.|.	.|.	.|.	V|X	394|406;274	ENSP00000418686:E394V|.	ENSP00000418686:E394V|.	E|K	-|-	2|1	0|0	ZNF782|ZNF782	98620910|98620910	0.000000|0.000000	0.05858|0.05858	0.962000|0.962000	0.40283|0.40283	0.852000|0.852000	0.48524|0.48524	-0.052000|-0.052000	0.11865|0.11865	1.750000|1.750000	0.51863|0.51863	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.443	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		4	81	0	0	0	1	0	4	81				
DDX26B	203522	broad.mit.edu	37	X	134709032	134709032	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chrX:134709032G>A	ENST00000370752.4	+	13	1988	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	552										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTCCAGTTGCACAAATGGG	0.413																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(1654-1656)Gca>Aca		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							178.0	155.0	163.0					X																	134709032		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134709032G>A	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1654G>A	X.37:g.134709032G>A	ENSP00000359788:p.Ala552Thr					DDX26B_ENST00000493637.1_3'UTR	p.A552T	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			13	1988	+	Acute lymphoblastic leukemia(192;6.56e-05)		552					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.1654G>A	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564326	0.86335	.	.	ENSG00000165359	ENST00000370752	T	0.35048	1.33	5.82	2.56	0.30785	.	0.205896	0.49916	D	0.000127	T	0.40015	0.1100	L	0.47016	1.485	0.40924	D	0.984331	D;B	0.59357	0.985;0.312	P;B	0.55303	0.773;0.103	T	0.19418	-1.0306	10	0.49607	T	0.09	-7.714	6.8915	0.24232	0.0815:0.125:0.6627:0.1308	.	552;552	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	T	552	ENSP00000359788:A552T	ENSP00000359788:A552T	A	+	1	0	DDX26B	134536698	1.000000	0.71417	0.783000	0.31826	0.988000	0.76386	6.663000	0.74431	0.567000	0.29293	0.594000	0.82650	GCA		0.413	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		3	58	0	0	0	1	0	3	58				
STXBP1	6812	broad.mit.edu	37	9	130438178	130438178	+	Silent	SNP	T	T	C			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:130438178T>C	ENST00000373299.1	+	14	1321	c.1206T>C	c.(1204-1206)taT>taC	p.Y402Y	STXBP1_ENST00000373302.3_Silent_p.Y402Y|STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	402					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCAGCACTTATGACAAAATCC	0.512																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(1204-1206)taT>taC		syntaxin binding protein 1							157.0	113.0	128.0					9																	130438178		2203	4300	6503	SO:0001819	synonymous_variant	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130438178T>C	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1206T>C	9.37:g.130438178T>C						STXBP1_ENST00000373299.1_Silent_p.Y402Y|STXBP1_ENST00000481942.1_3'UTR	p.Y402Y	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			14	1345	+			402					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	ENST00000373299.1	37	c.1206T>C	CCDS35146.1																																																																																				0.512	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		3	28	0	0	0	1	0	3	28				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	4	0	0	0	1	0	3	4				
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672																																						ENST00000391413.2																			2	Substitution - Missense(2)	p.S48R(2)	lung(1)|endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(142-144)agC>agG		keratin associated protein 4-11							11.0	16.0	14.0					17																	39274424		687	1589	2276	SO:0001583	missense	653240					keratin filament		g.chr17:39274424G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.144C>G	17.37:g.39274424G>C	ENSP00000375232:p.Ser48Arg						p.S48R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	182	-		Breast(137;0.000496)	48		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.144C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.52	2.262143	0.39995	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.91	3.91	0.45181	.	0.663392	0.11138	N	0.595595	T	0.06826	0.0174	M	0.91717	3.235	0.27842	N	0.941075	B	0.21606	0.058	B	0.25614	0.062	T	0.08310	-1.0728	10	0.66056	D	0.02	.	7.305	0.26443	0.1194:0.0:0.8806:0.0	.	48	Q9BYQ6	KR411_HUMAN	R	48	ENSP00000375232:S48R	ENSP00000375232:S48R	S	-	3	2	KRTAP4-11	36527950	0.739000	0.28196	0.990000	0.47175	0.119000	0.20118	0.787000	0.26858	2.015000	0.59207	0.609000	0.83330	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	77	0	0	0	1	0	5	77				
BEND3	57673	broad.mit.edu	37	6	107390917	107390917	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr6:107390917G>A	ENST00000369042.1	-	4	1668	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L	BEND3_ENST00000429433.2_Missense_Mutation_p.P493L			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	493										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						ATCACGCGGGGGGTCGCCTTC	0.682																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1477-1479)cCc>cTc		BEN domain containing 3							30.0	27.0	28.0					6																	107390917		2201	4299	6500	SO:0001583	missense	57673							g.chr6:107390917G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1478C>T	6.37:g.107390917G>A	ENSP00000358038:p.Pro493Leu					BEND3_ENST00000369042.1_Missense_Mutation_p.P493L	p.P493L	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	2127	-			493					A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.1478C>T	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	1.505	-0.551069	0.03996	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.06	3.2	0.36748	.	0.774897	0.12477	N	0.465527	T	0.10380	0.0254	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	9	0.41790	T	0.15	-4.6987	7.6546	0.28369	0.0858:0.0:0.5957:0.3186	.	493	Q5T5X7	BEND3_HUMAN	L	493	.	ENSP00000358038:P493L	P	-	2	0	BEND3	107497610	0.880000	0.30214	0.007000	0.13788	0.092000	0.18411	2.762000	0.47597	1.363000	0.46019	0.561000	0.74099	CCC		0.682	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		12	18	0	0	0	1	0	12	18				
KCTD14	65987	broad.mit.edu	37	11	77734212	77734212	+	Silent	SNP	C	C	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr11:77734212C>A	ENST00000353172.5	-	1	128	c.84G>T	c.(82-84)cgG>cgT	p.R28R	NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron|KCTD14_ENST00000533144.1_Intron|RP11-7I15.4_ENST00000526730.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	28					protein homooligomerization (GO:0051260)					endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TTACCGTTGGCCGCCTGGGCC	0.692																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	ENST00000353172.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15						c.(82-84)cgG>cgT		potassium channel tetramerization domain containing 14							24.0	30.0	28.0					11																	77734212		1977	4094	6071	SO:0001819	synonymous_variant	65987					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77734212C>A	BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.84G>T	11.37:g.77734212C>A						RP11-7I15.4_ENST00000526730.1_RNA|KCTD14_ENST00000533144.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	p.R28R	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		1	128	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		28					B2R9R8	Silent	SNP	ENST00000353172.5	37	c.84G>T	CCDS8255.2																																																																																				0.692	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		5	54	1	0	1.6384e-10	1	1.84981e-10	5	54				
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr4:190878646G>T	ENST00000226798.4	+	6	748	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	176					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E176*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373																																						ENST00000226798.4																			1	Substitution - Nonsense(1)	p.E176*(1)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(526-528)Gaa>Taa		FSHD region gene 1							48.0	44.0	45.0					4																	190878646		2179	4274	6453	SO:0001587	stop_gained	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878646G>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.526G>T	4.37:g.190878646G>T	ENSP00000226798:p.Glu176*					FRG1_ENST00000514482.1_3'UTR	p.E176*	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	748	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	176					A8K775	Nonsense_Mutation	SNP	ENST00000226798.4	37	c.526G>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	34	5.401103	0.96030	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	.	.	.	4.29	3.44	0.39384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.1825	10.4286	0.44393	0.0989:0.0:0.9011:0.0	.	.	.	.	X	176;48;113	.	ENSP00000226798:E176X	E	+	1	0	FRG1	191115640	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.376000	0.73141	0.937000	0.37394	0.454000	0.30748	GAA		0.373	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		3	38	1	0	4.096e-09	1	4.55111e-09	3	38				
ANKH	56172	broad.mit.edu	37	5	14711384	14711384	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr5:14711384C>T	ENST00000284268.6	-	12	1731	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G	ANKH_ENST00000535119.1_Silent_p.G269G	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	467					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGAGTCTTCCCCCTCCGTGG	0.542																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1399-1401)ggG>ggA		ANKH inorganic pyrophosphate transport regulator							251.0	223.0	233.0					5																	14711384		2203	4300	6503	SO:0001819	synonymous_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14711384C>T	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1401G>A	5.37:g.14711384C>T						ANKH_ENST00000535119.1_Silent_p.G269G	p.G467G	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			12	1731	-			467					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	c.1401G>A	CCDS3885.1																																																																																				0.542	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		44	133	0	0	0	1	0	44	133				
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs200109937		TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161				TPTE2P6_ENST00000440905.1_RNA																							TGAAAGTGCAGTTTTTCTCTT	0.363																																						ENST00000453498.1																			0																																																			0							g.chr13:25168489G>A																													13.37:g.25168489G>A														0	1161	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	35	0	0	0	1	0	3	35				
CASZ1	54897	broad.mit.edu	37	1	10709155	10709155	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:10709155T>G	ENST00000377022.3	-	15	3447	c.3130A>C	c.(3130-3132)Acc>Ccc	p.T1044P	CASZ1_ENST00000344008.5_Missense_Mutation_p.T1044P|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1044					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCGTCCAAGGTGCTGAAGAGC	0.622																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(3130-3132)Acc>Ccc		castor zinc finger 1							44.0	42.0	43.0					1																	10709155		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10709155T>G	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.3130A>C	1.37:g.10709155T>G	ENSP00000366221:p.Thr1044Pro					CASZ1_ENST00000344008.5_Missense_Mutation_p.T1044P|RP4-734G22.3_ENST00000606802.1_RNA	p.T1044P	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	15	3447	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1044					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.3130A>C	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	T	36	5.669166	0.96754	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.095279	0.64402	D	0.000001	T	0.76154	0.3948	L	0.59436	1.845	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78669	-0.2114	9	0.72032	D	0.01	-37.5843	15.4012	0.74843	0.0:0.0:0.0:1.0	.	1044;1044	Q86V15-2;Q86V15	.;CASZ1_HUMAN	P	1044	.	ENSP00000339445:T1044P	T	-	1	0	CASZ1	10631742	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.787000	0.85759	2.030000	0.59900	0.523000	0.50628	ACC		0.622	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		4	29	0	0	0	1	0	4	29				
ANKRD28	23243	broad.mit.edu	37	3	15721039	15721039	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:15721039T>G	ENST00000399451.2	-	22	2698	c.2331A>C	c.(2329-2331)gaA>gaC	p.E777D	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.E810D	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	777						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AAACTTCCTGTTCTAAAAGCA	0.368																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(2329-2331)gaA>gaC		ankyrin repeat domain 28							77.0	68.0	71.0					3																	15721039		1850	4101	5951	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15721039T>G	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2331A>C	3.37:g.15721039T>G	ENSP00000382379:p.Glu777Asp					ANKRD28_ENST00000383777.1_Missense_Mutation_p.E810D|ANKRD28_ENST00000497037.1_5'UTR	p.E777D	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			22	2698	-			777					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.2331A>C	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.879531	0.51801	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.67523	-0.27;-0.27;-0.27	6.06	3.71	0.42584	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	L	0.38531	1.155	0.58432	D	0.999995	B	0.26400	0.148	B	0.33690	0.168	T	0.39418	-0.9615	10	0.20519	T	0.43	.	8.4014	0.32588	0.0:0.2766:0.0:0.7234	.	777	O15084	ANR28_HUMAN	D	777;810;777	ENSP00000382379:E777D;ENSP00000373287:E810D;ENSP00000397341:E777D	ENSP00000373287:E810D	E	-	3	2	ANKRD28	15696043	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.514000	0.22786	0.549000	0.28973	0.533000	0.62120	GAA		0.368	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		2	13	0	0	0	1	0	2	13				
ZZEF1	23140	broad.mit.edu	37	17	3979978	3979978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:3979978C>A	ENST00000381638.2	-	21	3311	c.3187G>T	c.(3187-3189)Gaa>Taa	p.E1063*	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1063							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCAGGAGTTCTGTGAGGACG	0.532																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(3187-3189)Gaa>Taa		zinc finger, ZZ-type with EF-hand domain 1							46.0	44.0	44.0					17																	3979978		2203	4300	6503	SO:0001587	stop_gained	23140						calcium ion binding|zinc ion binding	g.chr17:3979978C>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3187G>T	17.37:g.3979978C>A	ENSP00000371051:p.Glu1063*					ZZEF1_ENST00000574474.1_5'UTR	p.E1063*	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			21	3311	-			1063					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	ENST00000381638.2	37	c.3187G>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	37	6.419433	0.97550	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.76	5.76	0.90799	.	0.145413	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-9.3116	16.229	0.82321	0.0:0.8673:0.1327:0.0	.	.	.	.	X	1063	.	ENSP00000371051:E1063X	E	-	1	0	ZZEF1	3926727	0.999000	0.42202	0.580000	0.28601	0.007000	0.05969	4.285000	0.58989	2.736000	0.93811	0.655000	0.94253	GAA		0.532	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		9	16	1	0	0.000274275	1	0.000295373	9	16				
OR5M8	219484	broad.mit.edu	37	11	56258763	56258763	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr11:56258763C>T	ENST00000327216.2	-	1	108	c.84G>A	c.(82-84)acG>acA	p.T28T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCAGAAACAGCGTGAAGAGGA	0.507																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(82-84)acG>acA		olfactory receptor, family 5, subfamily M, member 8							98.0	101.0	100.0					11																	56258763		2201	4296	6497	SO:0001819	synonymous_variant	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258763C>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.84G>A	11.37:g.56258763C>T							p.T28T	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	108	-	Esophageal squamous(21;0.00352)		28					B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	c.84G>A	CCDS31533.1																																																																																				0.507	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		36	91	0	0	0	1	0	36	91				
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G	rs538844201	byFrequency	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13350	0.0		0.0	False		,,,				2504	0.001					ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(67-69)ctC>ctG		HGF activator							13.0	16.0	15.0					4																	3443797		1723	3604	5327	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443797C>G	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.69C>G	4.37:g.3443797C>G						HGFAC_ENST00000511533.1_Silent_p.L23L	p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	184	+			23					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.69C>G	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			2	12	0	0	0	1	0	2	12				
TRIM9	114088	broad.mit.edu	37	14	51489667	51489667	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr14:51489667A>C	ENST00000298355.3	-	3	2048	c.927T>G	c.(925-927)agT>agG	p.S309R	TRIM9_ENST00000360392.4_Missense_Mutation_p.S309R|TRIM9_ENST00000338969.5_Missense_Mutation_p.S309R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	309					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CAAACTCCACACTGTTCTCCT	0.552																																						ENST00000298355.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(925-927)agT>agG		tripartite motif containing 9							123.0	122.0	122.0					14																	51489667		2203	4300	6503	SO:0001583	missense	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51489667A>C	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.927T>G	14.37:g.51489667A>C	ENSP00000298355:p.Ser309Arg					TRIM9_ENST00000338969.5_Missense_Mutation_p.S309R|TRIM9_ENST00000360392.4_Missense_Mutation_p.S309R	p.S309R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN			3	2048	-	all_epithelial(31;0.00418)|Breast(41;0.148)		309					D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.927T>G	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815654	0.50527	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.70986	-0.4;-0.53;0.51	5.58	-6.46	0.01908	B-box, C-terminal (1);	0.043907	0.85682	D	0.000000	T	0.64427	0.2597	L	0.34521	1.04	0.29171	N	0.877109	B;P;P	0.41159	0.429;0.713;0.74	P;P;B	0.48952	0.533;0.596;0.418	T	0.66172	-0.5990	10	0.49607	T	0.09	.	16.6839	0.85300	0.4073:0.0:0.5927:0.0	.	309;309;309	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	R	309	ENSP00000298355:S309R;ENSP00000342970:S309R;ENSP00000353561:S309R	ENSP00000298355:S309R	S	-	3	2	TRIM9	50559417	0.003000	0.15002	0.746000	0.31095	0.974000	0.67602	-1.030000	0.03581	-1.653000	0.01500	-0.290000	0.09829	AGT		0.552	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		11	42	0	0	0	1	0	11	42				
TMIE	259236	broad.mit.edu	37	3	46747349	46747349	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:46747349C>T	ENST00000326431.3	+	2	318	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	55					inner ear morphogenesis (GO:0042472)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CTGGGACATGCGCCTGTGGCA	0.607											OREG0015540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000326431.3																			0				endometrium(1)|lung(1)|skin(1)	3						c.(163-165)Cgc>Tgc		transmembrane inner ear							154.0	170.0	165.0					3																	46747349		2188	4280	6468	SO:0001583	missense	259236					integral to membrane		g.chr3:46747349C>T	AY081842	CCDS43081.1	3p21	2010-01-06	2004-05-19		ENSG00000181585	ENSG00000181585			30800	protein-coding gene	gene with protein product		607237	"""deafness, autosomal recessive 6"""	DFNB6		12140191, 12145746	Standard	NM_147196		Approved		uc010hjk.1	Q8NEW7	OTTHUMG00000149909	ENST00000326431.3:c.163C>T	3.37:g.46747349C>T	ENSP00000324775:p.Arg55Cys		OREG0015540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	941		p.R55C	NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	2	318	+			55					A0AV93|A8K0R0	Missense_Mutation	SNP	ENST00000326431.3	37	c.163C>T	CCDS43081.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710174	0.89018	.	.	ENSG00000181585	ENST00000326431	D	0.91792	-2.91	5.2	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.94647	0.8274	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94590	0.7787	10	0.87932	D	0	-20.0382	12.545	0.56195	0.1671:0.8329:0.0:0.0	.	55	Q8NEW7	TMIE_HUMAN	C	55	ENSP00000324775:R55C	ENSP00000324775:R55C	R	+	1	0	TMIE	46722353	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.578000	0.53892	2.570000	0.86706	0.655000	0.94253	CGC		0.607	TMIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313853.1	NM_147196		31	91	0	0	0	1	0	31	91				
COL27A1	85301	broad.mit.edu	37	9	117071687	117071687	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:117071687C>T	ENST00000356083.3	+	60	5756	c.5365C>T	c.(5365-5367)Cgg>Tgg	p.R1789W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1789	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CGTACGCTTCCGGGCCTGGAA	0.607																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5365-5367)Cgg>Tgg		collagen, type XXVII, alpha 1							73.0	73.0	73.0					9																	117071687		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117071687C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5365C>T	9.37:g.117071687C>T	ENSP00000348385:p.Arg1789Trp						p.R1789W	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			60	5756	+			1789			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5365C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689504	0.68271	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.74315	-0.83	6.06	6.06	0.98353	Fibrillar collagen, C-terminal (4);	.	.	.	.	D	0.84451	0.5475	M	0.71036	2.16	0.36410	D	0.863663	D;D	0.89917	1.0;1.0	D;D	0.78314	0.989;0.991	D	0.87541	0.2459	9	0.62326	D	0.03	.	12.9848	0.58586	0.1613:0.8387:0.0:0.0	.	104;1789	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	W	1789;1796	ENSP00000348385:R1789W	ENSP00000348385:R1789W	R	+	1	2	COL27A1	116111508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.627000	0.54252	2.882000	0.98803	0.655000	0.94253	CGG		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		19	83	0	0	0	1	0	19	83				
PCLO	27445	broad.mit.edu	37	7	82579685	82579685	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr7:82579685C>T	ENST00000333891.9	-	6	10556	c.10219G>A	c.(10219-10221)Gaa>Aaa	p.E3407K	PCLO_ENST00000423517.2_Missense_Mutation_p.E3407K|PCLO_ENST00000437081.1_Missense_Mutation_p.E127K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTGTTTTTCCTCTTTCACA	0.418																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(10219-10221)Gaa>Aaa		piccolo presynaptic cytomatrix protein							100.0	95.0	96.0					7																	82579685		1893	4111	6004	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579685C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10219G>A	7.37:g.82579685C>T	ENSP00000334319:p.Glu3407Lys					PCLO_ENST00000437081.1_Missense_Mutation_p.E127K|PCLO_ENST00000333891.8_Missense_Mutation_p.E3407K	p.E3407K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	10556	-			3338						Missense_Mutation	SNP	ENST00000333891.9	37	c.10219G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525308	0.44969	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.35421	2.34;2.34;1.31	5.95	5.95	0.96441	.	.	.	.	.	T	0.50205	0.1602	L	0.50333	1.59	0.54753	D	0.999982	P;D;D	0.55385	0.455;0.971;0.971	B;P;P	0.53401	0.142;0.725;0.725	T	0.46679	-0.9174	9	0.87932	D	0	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	3338;3407;3407	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	3338;3407;3407;127	ENSP00000334319:E3407K;ENSP00000388393:E3407K;ENSP00000393760:E127K	ENSP00000334319:E3407K	E	-	1	0	PCLO	82417621	1.000000	0.71417	0.985000	0.45067	0.827000	0.46813	5.029000	0.64121	2.825000	0.97269	0.655000	0.94253	GAA		0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	47	0	0	0	1	0	9	47				
MAGEA6	4105	broad.mit.edu	37	X	151869832	151869832	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chrX:151869832C>T	ENST00000329342.5	+	3	747	c.522C>T	c.(520-522)caC>caT	p.H174H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	174	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.H174H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCGGCCACGTGTACATCT	0.532																																						ENST00000329342.5																			1	Substitution - coding silent(1)	p.H174H(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(520-522)caC>caT		melanoma antigen family A, 6							126.0	113.0	118.0					X																	151869832		2203	4299	6502	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151869832C>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.522C>T	X.37:g.151869832C>T							p.H174H	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	747	+	Acute lymphoblastic leukemia(192;6.56e-05)		174			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.522C>T	CCDS14708.1																																																																																				0.532	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		3	60	0	0	0	1	0	3	60				
OR10K2	391107	broad.mit.edu	37	1	158390650	158390650	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:158390650G>A	ENST00000314902.2	-	1	6	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TCATTGACCCGCTCCATGGAG	0.478																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(7-9)Cgg>Tgg		olfactory receptor, family 10, subfamily K, member 2							39.0	35.0	36.0					1																	158390650		2202	4300	6502	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390650G>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.7C>T	1.37:g.158390650G>A	ENSP00000324251:p.Arg3Trp						p.R3W	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	6	-	all_hematologic(112;0.0378)		3						Missense_Mutation	SNP	ENST00000314902.2	37	c.7C>T	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335347	0.24253	.	.	ENSG00000180708	ENST00000314902	T	0.09911	2.93	4.1	-8.19	0.01049	.	2.436120	0.01724	N	0.028459	T	0.02119	0.0066	L	0.39633	1.23	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35251	-0.9796	10	0.49607	T	0.09	.	2.7044	0.05158	0.1649:0.1121:0.4323:0.2907	.	3	Q6IF99	O10K2_HUMAN	W	3	ENSP00000324251:R3W	ENSP00000324251:R3W	R	-	1	2	OR10K2	156657274	0.000000	0.05858	0.003000	0.11579	0.929000	0.56500	-1.807000	0.01734	-1.605000	0.01593	-0.373000	0.07131	CGG		0.478	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		3	34	0	0	0	1	0	3	34				
USH2A	7399	broad.mit.edu	37	1	215963438	215963438	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:215963438A>T	ENST00000307340.3	-	51	10531	c.10145T>A	c.(10144-10146)gTt>gAt	p.V3382D	USH2A_ENST00000366943.2_Missense_Mutation_p.V3382D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3382					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCAGAGCAAACATATTTCAA	0.378										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10144-10146)gTt>gAt		Usher syndrome 2A (autosomal recessive, mild)							95.0	95.0	95.0					1																	215963438		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215963438A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10145T>A	1.37:g.215963438A>T	ENSP00000305941:p.Val3382Asp	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.V3382D	p.V3382D			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	51	10531	-			3382					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10145T>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386203	0.82902	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.21191	2.02;2.02	5.76	5.76	0.90799	Fibronectin, type III (2);	0.000000	0.40554	N	0.001065	T	0.50377	0.1612	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55604	-0.8115	10	0.87932	D	0	.	16.0843	0.81031	1.0:0.0:0.0:0.0	.	3382	O75445	USH2A_HUMAN	D	3382	ENSP00000305941:V3382D;ENSP00000355910:V3382D	ENSP00000305941:V3382D	V	-	2	0	USH2A	214030061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.478000	0.90428	2.191000	0.70037	0.533000	0.62120	GTT		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		13	47	0	0	0	1	0	13	47				
METTL17	64745	broad.mit.edu	37	14	21464873	21464874	+	Intron	INS	-	-	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr14:21464873_21464874insT	ENST00000339374.6	+	13	1498				METTL17_ENST00000556670.2_Intron|METTL17_ENST00000382985.4_Frame_Shift_Ins_p.G424fs|SLC39A2_ENST00000298681.4_5'Flank|SLC39A2_ENST00000554422.1_5'Flank|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17						translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CACGGCAGGTATGGGGGGTGTG	0.589																																						ENST00000382985.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1267-1269)tggfs		methyltransferase like 17																																				SO:0001627	intron_variant	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464873_21464874insT	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1265+3->T	14.37:g.21464874_21464874dupT						METTL17_ENST00000556670.2_Intron|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000339374.6_Intron	p.W423fs			Q9H7H0	MET17_HUMAN			13	1291_1292	+			0					Q9BSH1|Q9BZH2|Q9BZH3	Frame_Shift_Ins	INS	ENST00000339374.6	37	c.1268_1269insT	CCDS9562.1																																																																																				0.589	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		9	147						9	147	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs368873911|rs75843814	byFrequency	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020									DNM1 pseudogene 47																		GATGCTGCTTCTCAGAGCTGCTGT	0.583																																						ENST00000561463.1																			0																																																			0							g.chr15:102292971_102292974delCTCA	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292971_102292974delCTCA														0	1017_1020	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.583	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	5						3	5	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	4						4	4	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15311619	15311621	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr19:15311619_15311621delAGC	ENST00000263388.2	-	1	171_173	c.96_98delGCT	c.(94-99)ctgcta>cta	p.32_33LL>L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	32					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGCCCCGCTAGCAGCAGCAGCA	0.808																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(94-99)cta>ct		notch 3				6,1996		1,4,996						-0.4	1.0			3	29,4433		4,21,2206	no	coding	NOTCH3	NM_000435.2		5,25,3202	A1A1,A1R,RR		0.6499,0.2997,0.5415				35,6429				SO:0001651	inframe_deletion	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15311619_15311621delAGC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.96_98delGCT	19.37:g.15311628_15311630delAGC	ENSP00000263388:p.Leu33del						p.LL32del	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		1	171_173	-			32					Q9UEB3|Q9UPL3|Q9Y6L8	In_Frame_Del	DEL	ENST00000263388.2	37	c.96_98delGCT	CCDS12326.1																																																																																				0.808	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		2	4						2	4	---	---	---	---
