#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
VPS13D	55187	broad.mit.edu	37	1	12333082	12333082	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:12333082T>A	ENST00000358136.3	+	18	2256	c.2126T>A	c.(2125-2127)gTg>gAg	p.V709E	VPS13D_ENST00000356315.4_Missense_Mutation_p.V709E	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGATGGACCGTGCGGCTGGAT	0.428																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(2125-2127)gTg>gAg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							146.0	136.0	140.0					1																	12333082		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12333082T>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2126T>A	1.37:g.12333082T>A	ENSP00000350854:p.Val709Glu					VPS13D_ENST00000356315.4_Missense_Mutation_p.V709E	p.V709E	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	18	2256	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	709						Missense_Mutation	SNP	ENST00000358136.3	37	c.2126T>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228549	0.79576	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.57595	0.39;0.39	5.16	5.16	0.70880	.	0.120397	0.56097	D	0.000040	T	0.56016	0.1957	L	0.43152	1.355	0.80722	D	1	D;P	0.53885	0.963;0.938	P;P	0.50754	0.649;0.603	T	0.61252	-0.7100	10	0.87932	D	0	.	15.0014	0.71476	0.0:0.0:0.0:1.0	.	709;709	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	E	709	ENSP00000348666:V709E;ENSP00000350854:V709E	ENSP00000348666:V709E	V	+	2	0	VPS13D	12255669	1.000000	0.71417	0.780000	0.31762	0.470000	0.32858	7.651000	0.83577	1.929000	0.55896	0.477000	0.44152	GTG		0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		18	66	18	66	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179594623	179594623	+	Missense_Mutation	SNP	A	A	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:179594623A>T	ENST00000591111.1	-	61	17630	c.17406T>A	c.(17404-17406)aaT>aaA	p.N5802K	TTN_ENST00000342992.6_Missense_Mutation_p.N4875K|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.N6119K|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12604	Ig-like 39.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGACTGTCCATTCCTCAGCA	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18355-18357)aaT>aaA		titin							48.0	47.0	47.0					2																	179594623		1881	4117	5998	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594623A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17406T>A	2.37:g.179594623A>T	ENSP00000465570:p.Asn5802Lys					TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N5802K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N4875K	p.N6119K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		63	18581	-			5802			Ig-like 42.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18357T>A		.	.	.	.	.	.	.	.	.	.	A	12.15	1.850156	0.32699	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	5.92	-3.05	0.05396	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32102	0.0818	N	0.03253	-0.375	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02661	-1.1127	9	0.87932	D	0	.	6.2359	0.20762	0.3273:0.0:0.4195:0.2532	.	5802	Q8WZ42	TITIN_HUMAN	K	4875	ENSP00000343764:N4875K	ENSP00000343764:N4875K	N	-	3	2	TTN	179302868	0.968000	0.33430	0.993000	0.49108	0.990000	0.78478	0.148000	0.16224	-0.312000	0.08741	-0.290000	0.09829	AAT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	9	10	9	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200233398	200233398	+	Nonsense_Mutation	SNP	A	A	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:200233398A>T	ENST00000417098.1	-	6	1446	c.630T>A	c.(628-630)taT>taA	p.Y210*	SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Y210*|SATB2_ENST00000443023.1_Nonsense_Mutation_p.Y151*|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Y210*|SATB2_ENST00000428695.1_Intron	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	210					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATTGGCATAATATGTGCTAT	0.318																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(451-453)taT>taA		SATB homeobox 2							97.0	93.0	95.0					2																	200233398		2203	4299	6502	SO:0001587	stop_gained	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200233398A>T	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.630T>A	2.37:g.200233398A>T	ENSP00000401112:p.Tyr210*					SATB2_ENST00000417098.1_Nonsense_Mutation_p.Y210*|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Y210*|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Y210*	p.Y151*			Q9UPW6	SATB2_HUMAN			5	1918	-			210					A8K5Z8|Q3ZB87|Q4V763	Nonsense_Mutation	SNP	ENST00000417098.1	37	c.453T>A	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	A	38	7.201281	0.98132	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000457245	.	.	.	5.85	0.96	0.19631	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0615	10.5876	0.45292	0.5073:0.0:0.4927:0.0	.	.	.	.	X	210;151;210;210	.	ENSP00000260926:Y210X	Y	-	3	2	SATB2	199941643	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.243000	0.51392	-0.057000	0.13199	0.402000	0.26972	TAT		0.318	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		31	41	31	41	---	---	---	---
WDR49	151790	broad.mit.edu	37	3	167249006	167249006	+	Missense_Mutation	SNP	G	G	C			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr3:167249006G>C	ENST00000308378.3	-	9	1364	c.1059C>G	c.(1057-1059)gaC>gaG	p.D353E	WDR49_ENST00000476376.1_Missense_Mutation_p.D178E|WDR49_ENST00000453925.2_Missense_Mutation_p.D417E|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	353										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGGTAGAATGGTCTGCCATGG	0.438																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1057-1059)gaC>gaG		WD repeat domain 49							84.0	89.0	87.0					3																	167249006		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167249006G>C	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1059C>G	3.37:g.167249006G>C	ENSP00000311343:p.Asp353Glu					WDR49_ENST00000453925.2_Missense_Mutation_p.D417E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.D178E	p.D353E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			9	1364	-			353					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1059C>G	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.817|2.817	-0.245747|-0.245747	0.05906|0.05906	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.53206|.	0.63;1.91;1.06|.	5.68|5.68	-4.84|-4.84	0.03151|0.03151	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.811986|.	0.11253|.	N|.	0.583404|.	T|T	0.23806|0.23806	0.0576|0.0576	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.34477|0.34477	-0.9827|-0.9827	10|5	0.13108|.	T|.	0.6|.	.|.	0.6201|0.6201	0.00776|0.00776	0.3271:0.2923:0.1652:0.2154|0.3271:0.2923:0.1652:0.2154	.|.	417;353|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	E|S	353;178;417|429	ENSP00000311343:D353E;ENSP00000420508:D178E;ENSP00000410863:D417E|.	ENSP00000311343:D353E|.	D|T	-|-	3|2	2|0	WDR49|WDR49	168731700|168731700	0.006000|0.006000	0.16342|0.16342	0.004000|0.004000	0.12327|0.12327	0.007000|0.007000	0.05969|0.05969	-0.678000|-0.678000	0.05209|0.05209	-0.476000|-0.476000	0.06842|0.06842	0.650000|0.650000	0.86243|0.86243	GAC|ACC		0.438	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		4	75	4	75	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	16019994	16019994	+	Silent	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr4:16019994G>A	ENST00000510224.1	-	9	1202	c.954C>T	c.(952-954)agC>agT	p.S318S	PROM1_ENST00000540805.1_Silent_p.S318S|PROM1_ENST00000505450.1_Silent_p.S309S|PROM1_ENST00000447510.2_Silent_p.S318S|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000539194.1_Silent_p.S318S|PROM1_ENST00000543373.1_Silent_p.S309S|PROM1_ENST00000508167.1_Silent_p.S309S			O43490	PROM1_HUMAN	prominin 1	318					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ACAATCTGATGCTGTTGCAGG	0.537																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(925-927)agC>agT		prominin 1							112.0	106.0	108.0					4																	16019994		2074	4227	6301	SO:0001819	synonymous_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:16019994G>A	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.954C>T	4.37:g.16019994G>A						PROM1_ENST00000510224.1_Silent_p.S318S|PROM1_ENST00000539194.1_Silent_p.S318S|PROM1_ENST00000508167.1_Silent_p.S309S|PROM1_ENST00000540805.1_Silent_p.S318S|PROM1_ENST00000543373.1_Silent_p.S309S|PROM1_ENST00000447510.2_Silent_p.S318S|PROM1_ENST00000502943.1_5'UTR	p.S309S	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			8	1539	-			318					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	c.927C>T	CCDS47029.1																																																																																				0.537	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		17	29	17	29	---	---	---	---
IRF4	3662	broad.mit.edu	37	6	397164	397164	+	Silent	SNP	G	G	A	rs200431511		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr6:397164G>A	ENST00000380956.4	+	5	675	c.549G>A	c.(547-549)ccG>ccA	p.P183P	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	183					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ACTACGTCCCGGATCAGCCAC	0.562			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(547-549)ccG>ccA		interferon regulatory factor 4		G	,	1,4405	2.1+/-5.4	0,1,2202	108.0	113.0	111.0		546,549	-11.0	0.3	6		111	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	IRF4	NM_001195286.1,NM_002460.3	,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,	182/451,183/452	397164	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397164G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.549G>A	6.37:g.397164G>A						IRF4_ENST00000495137.1_3'UTR	p.P183P	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	675	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	183					Q5VUI7|Q99660	Silent	SNP	ENST00000380956.4	37	c.549G>A	CCDS4469.1																																																																																				0.562	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			50	60	50	60	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113358324	113358324	+	Splice_Site	SNP	A	A	G			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:113358324A>G	ENST00000297405.5	-	41	6687		c.e41+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAATACACATACCAAAACCTA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e41+1		CUB and Sushi multiple domains 3							94.0	99.0	97.0					8																	113358324		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113358324A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6442+1T>C	8.37:g.113358324A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site		NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			41	6687	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37		CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385420	0.82792	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5781	0.76408	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113427500	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.097000	0.94193	2.260000	0.74910	0.528000	0.53228	.		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	27	102	27	102	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120756627	120756627	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:120756627T>C	ENST00000378164.2	-	24	3413	c.3115A>G	c.(3115-3117)Agt>Ggt	p.S1039G	TAF2_ENST00000519355.1_5'Flank	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1039					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCTTGAGAACTGGAAAACTAA	0.393																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(3115-3117)Agt>Ggt		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							122.0	121.0	121.0					8																	120756627		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120756627T>C	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3115A>G	8.37:g.120756627T>C	ENSP00000367406:p.Ser1039Gly						p.S1039G	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		24	3413	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		1039					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.3115A>G	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831226	0.50845	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.33865	2.5;1.39	5.49	5.49	0.81192	.	0.300596	0.40640	N	0.001051	T	0.24392	0.0591	N	0.14661	0.345	0.36525	D	0.870406	B	0.06786	0.001	B	0.04013	0.001	T	0.12915	-1.0529	10	0.30854	T	0.27	-6.9258	15.6034	0.76642	0.0:0.0:0.0:1.0	.	1039	Q6P1X5	TAF2_HUMAN	G	1039;215	ENSP00000367406:S1039G;ENSP00000436750:S215G	ENSP00000367406:S1039G	S	-	1	0	TAF2	120825808	1.000000	0.71417	0.974000	0.42286	0.769000	0.43574	5.960000	0.70348	2.096000	0.63516	0.383000	0.25322	AGT		0.393	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		5	193	5	193	---	---	---	---
NTNG2	84628	broad.mit.edu	37	9	135102298	135102298	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:135102298G>T	ENST00000393229.3	+	4	1696	c.920G>T	c.(919-921)tGc>tTc	p.C307F	NTNG2_ENST00000360670.3_Missense_Mutation_p.C307F|NTNG2_ENST00000393228.4_Missense_Mutation_p.C307F|NTNG2_ENST00000372179.3_Missense_Mutation_p.C307F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	307	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CAGTGCGAGTGCGAGCACAAC	0.657																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(919-921)tGc>tTc		netrin G2							46.0	40.0	42.0					9																	135102298		2203	4299	6502	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135102298G>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.920G>T	9.37:g.135102298G>T	ENSP00000376921:p.Cys307Phe					NTNG2_ENST00000372179.3_Missense_Mutation_p.C307F|NTNG2_ENST00000393228.4_Missense_Mutation_p.C307F|NTNG2_ENST00000360670.3_Missense_Mutation_p.C307F	p.C307F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	4	1696	+			307			Laminin EGF-like 1.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.920G>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235269	0.79800	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	4.86	4.86	0.63082	EGF-like, laminin (3);EGF-like region, conserved site (1);	0.126140	0.53938	D	0.000048	D	0.98264	0.9425	H	0.98256	4.185	0.80722	D	1	D	0.69078	0.997	D	0.65233	0.933	D	0.99847	1.1067	10	0.87932	D	0	.	16.9626	0.86277	0.0:0.0:1.0:0.0	.	307	Q96CW9	NTNG2_HUMAN	F	307	ENSP00000376921:C307F;ENSP00000376920:C307F;ENSP00000353888:C307F;ENSP00000361252:C307F	ENSP00000353888:C307F	C	+	2	0	NTNG2	134092119	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	9.471000	0.97696	2.242000	0.73789	0.313000	0.20887	TGC		0.657	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		5	10	5	10	---	---	---	---
ADAMTS13	11093	broad.mit.edu	37	9	136323143	136323143	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:136323143C>T	ENST00000371929.3	+	28	4448	c.4004C>T	c.(4003-4005)gCa>gTa	p.A1335V	CACFD1_ENST00000540581.1_5'Flank|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000485925.1_Intron|CACFD1_ENST00000542192.1_5'Flank|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A1248V|CACFD1_ENST00000316948.4_5'Flank|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.A131V|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A1279V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1335	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A1335G(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTCCGCACGCACGGATTGCC	0.622																																						ENST00000371929.3																			1	Substitution - Missense(1)	p.A1335G(1)	lung(1)	central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(4003-4005)gCa>gTa		ADAM metallopeptidase with thrombospondin type 1 motif, 13							54.0	53.0	53.0					9																	136323143		2203	4299	6502	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136323143C>T	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.4004C>T	9.37:g.136323143C>T	ENSP00000360997:p.Ala1335Val					ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.A131V|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A1248V|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A1279V	p.A1335V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	28	4448	+			1335			CUB 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.4004C>T	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619173	0.28801	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000371910	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.83	4.83	0.62350	CUB (1);	.	.	.	.	T	0.45994	0.1370	M	0.70595	2.14	0.80722	D	1	B;B;B	0.33637	0.011;0.42;0.42	B;B;B	0.30782	0.007;0.12;0.12	T	0.53578	-0.8419	9	0.87932	D	0	.	10.6959	0.45899	0.1906:0.8094:0.0:0.0	.	1335;1248;1279	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	V	1335;1279;1248;131	ENSP00000360997:A1335V;ENSP00000347927:A1279V;ENSP00000348997:A1248V;ENSP00000360978:A131V	ENSP00000347927:A1279V	A	+	2	0	ADAMTS13	135312964	0.752000	0.28338	0.898000	0.35279	0.602000	0.36980	2.680000	0.46918	2.222000	0.72286	0.655000	0.94253	GCA		0.622	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		12	27	12	27	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64958388	64958388	+	Silent	SNP	A	A	G			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr10:64958388A>G	ENST00000399262.2	-	12	5594	c.5376T>C	c.(5374-5376)ttT>ttC	p.F1792F	JMJD1C_ENST00000542921.1_Silent_p.F1610F|JMJD1C_ENST00000402544.1_Silent_p.F1573F|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1792					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CATCATCTTCAAAATTTTCAT	0.323																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(5374-5376)ttT>ttC		jumonji domain containing 1C							119.0	115.0	116.0					10																	64958388		1825	4071	5896	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64958388A>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5376T>C	10.37:g.64958388A>G						JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Silent_p.F1610F|JMJD1C_ENST00000402544.1_Silent_p.F1573F	p.F1792F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			12	5594	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1792					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.5376T>C	CCDS41532.1																																																																																				0.323	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		5	119	5	119	---	---	---	---
CCDC186	55088	broad.mit.edu	37	10	115922869	115922869	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr10:115922869T>A	ENST00000369287.3	-	2	425	c.159A>T	c.(157-159)ttA>ttT	p.L53F	C10orf118_ENST00000369286.1_Missense_Mutation_p.L53F|C10orf118_ENST00000369285.3_Missense_Mutation_p.L53F	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		53										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TAGGTTGACATAAAGTTTTAT	0.363																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(157-159)ttA>ttT		chromosome 10 open reading frame 118							110.0	111.0	111.0					10																	115922869		2203	4300	6503	SO:0001583	missense	55088							g.chr10:115922869T>A																												ENST00000369287.3:c.159A>T	10.37:g.115922869T>A	ENSP00000358293:p.Leu53Phe					C10orf118_ENST00000369286.1_Missense_Mutation_p.L53F|C10orf118_ENST00000369285.3_Missense_Mutation_p.L53F	p.L53F	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	2	425	-		Colorectal(252;0.172)|Breast(234;0.188)	53					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.159A>T	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	T	8.365	0.834073	0.16820	.	.	ENSG00000165813	ENST00000369287;ENST00000430353;ENST00000369286;ENST00000369285	T;T;T	0.33216	1.85;1.42;1.42	5.65	3.29	0.37713	.	1.347050	0.04857	N	0.443320	T	0.28134	0.0694	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26018	-1.0115	10	0.52906	T	0.07	.	5.0395	0.14452	0.3505:0.0795:0.0:0.5701	.	53	Q7Z3E2	CJ118_HUMAN	F	53;159;53;53	ENSP00000358293:L53F;ENSP00000358292:L53F;ENSP00000358291:L53F	ENSP00000358291:L53F	L	-	3	2	C10orf118	115912859	0.000000	0.05858	0.619000	0.29118	0.290000	0.27261	0.174000	0.16743	0.419000	0.25927	0.529000	0.55759	TTA		0.363	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			45	69	45	69	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46898339	46898339	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:46898339C>T	ENST00000378623.1	-	24	3562	c.3320G>A	c.(3319-3321)cGt>cAt	p.R1107H	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1107					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGATTGGCACGACTGATCCT	0.567																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(3319-3321)cGt>cAt		low density lipoprotein receptor-related protein 4							197.0	156.0	170.0					11																	46898339		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46898339C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3320G>A	11.37:g.46898339C>T	ENSP00000367888:p.Arg1107His						p.R1107H	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	24	3562	-			1107					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3320G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679918	0.88542	.	.	ENSG00000134569	ENST00000378623	D	0.96300	-3.97	5.75	5.75	0.90469	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98817	0.9601	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99308	1.0903	10	0.87932	D	0	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	1107	O75096	LRP4_HUMAN	H	1107	ENSP00000367888:R1107H	ENSP00000367888:R1107H	R	-	2	0	LRP4	46854915	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	7.588000	0.82629	2.725000	0.93324	0.655000	0.94253	CGT		0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		8	115	8	115	---	---	---	---
ATM	472	broad.mit.edu	37	11	108175442	108175442	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:108175442T>A	ENST00000452508.2	+	38	5726	c.5537T>A	c.(5536-5538)aTt>aAt	p.I1846N	ATM_ENST00000278616.4_Missense_Mutation_p.I1846N			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1846					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CCATACTTGATTCATGATATT	0.338			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5536-5538)aTt>aAt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							74.0	71.0	72.0					11																	108175442		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108175442T>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5537T>A	11.37:g.108175442T>A	ENSP00000388058:p.Ile1846Asn	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.I1846N	p.I1846N	NM_000051.3	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	37	5922	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1846					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5537T>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207171	0.79127	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.78816	-1.21;-1.21	5.52	5.52	0.82312	Armadillo-type fold (1);	0.153026	0.64402	D	0.000020	D	0.85379	0.5683	M	0.67953	2.075	0.42374	D	0.992465	D	0.69078	0.997	P	0.60682	0.878	D	0.87405	0.2372	10	0.87932	D	0	.	15.9357	0.79704	0.0:0.0:0.0:1.0	.	1846	Q13315	ATM_HUMAN	N	1846	ENSP00000278616:I1846N;ENSP00000388058:I1846N	ENSP00000278616:I1846N	I	+	2	0	ATM	107680652	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.609000	0.74173	2.218000	0.71995	0.482000	0.46254	ATT		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		17	24	17	24	---	---	---	---
SLC37A4	2542	broad.mit.edu	37	11	118899962	118899962	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:118899962C>T	ENST00000545985.1	-	3	874	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	SLC37A4_ENST00000330775.7_Missense_Mutation_p.E40K|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000357590.5_Missense_Mutation_p.E40K|SLC37A4_ENST00000525102.1_5'UTR	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	40					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGGATCTCTTCCACCAATGAT	0.507																																						ENST00000545985.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(118-120)Gaa>Aaa		solute carrier family 37 (glucose-6-phosphate transporter), member 4							90.0	89.0	89.0					11																	118899962		2059	4209	6268	SO:0001583	missense	2542				glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	g.chr11:118899962C>T	Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"""Solute carriers"""	4061	protein-coding gene	gene with protein product		602671	"""glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"""	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.118G>A	11.37:g.118899962C>T	ENSP00000475241:p.Glu40Lys					SLC37A4_ENST00000357590.5_Missense_Mutation_p.E40K|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000330775.7_Missense_Mutation_p.E40K|SLC37A4_ENST00000525102.1_5'UTR	p.E40K	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	3	874	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	40					O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	37	c.118G>A																																																																																					0.507	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467		9	15	9	15	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71267477	71267477	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr14:71267477C>T	ENST00000554752.2	-	2	726	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	MAP3K9_ENST00000555993.2_Missense_Mutation_p.V243M|MAP3K9_ENST00000381250.4_Missense_Mutation_p.V243M	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCCAATTCACCAGGATGTCT	0.493																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(727-729)Gtg>Atg		mitogen-activated protein kinase kinase kinase 9							104.0	95.0	98.0					14																	71267477		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71267477C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.727G>A	14.37:g.71267477C>T	ENSP00000451612:p.Val243Met					MAP3K9_ENST00000381250.4_Missense_Mutation_p.V243M|MAP3K9_ENST00000555993.2_Missense_Mutation_p.V243M	p.V243M	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	2	726	-			243			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.727G>A		.	.	.	.	.	.	.	.	.	.	C	23.4	4.407374	0.83230	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	D;D	0.83914	-1.78;-1.78	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88070	0.6338	L	0.37897	1.145	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.99	D	0.87092	0.2173	10	0.48119	T	0.1	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	243;243	P80192;P80192-4	M3K9_HUMAN;.	M	243	ENSP00000451612:V243M;ENSP00000370649:V243M	ENSP00000005198:V243M	V	-	1	0	MAP3K9	70337230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.878000	0.69682	2.814000	0.96858	0.655000	0.94253	GTG		0.493	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			31	34	31	34	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67008130	67008130	+	Missense_Mutation	SNP	A	A	G	rs144122311	byFrequency	TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr17:67008130A>G	ENST00000340001.4	-	23	3345	c.3134T>C	c.(3133-3135)aTt>aCt	p.I1045T	ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1045					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTAGTCACCAATGCTGCTCAT	0.403													A|||	2	0.000399361	0.0	0.0014	5008	,	,		21085	0.0		0.0	False		,,,				2504	0.001					ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(3133-3135)aTt>aCt		ATP-binding cassette, sub-family A (ABC1), member 9		A	THR/ILE	2,4404	4.2+/-10.8	0,2,2201	126.0	106.0	113.0		3134	4.0	0.4	17	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	no	missense	ABCA9	NM_080283.3	89	0,4,6499	GG,GA,AA		0.0233,0.0454,0.0308	benign	1045/1625	67008130	4,13002	2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67008130A>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3134T>C	17.37:g.67008130A>G	ENSP00000342216:p.Ile1045Thr					ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T|ABCA9-AS1_ENST00000458677.1_RNA	p.I1045T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			23	3345	-	Breast(10;1.47e-12)		1045					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3134T>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.280593	0.23392	4.54E-4	2.33E-4	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88201	-2.35;-2.35	5.05	3.97	0.46021	.	0.145632	0.30593	N	0.009294	D	0.88735	0.6517	L	0.53617	1.68	0.28704	N	0.903906	P;B	0.43633	0.813;0.035	P;B	0.51453	0.67;0.144	T	0.83170	-0.0094	10	0.52906	T	0.07	.	6.9208	0.24387	0.8177:0.0:0.1823:0.0	.	1045;1045	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	T	1045;1028;1045;1040	ENSP00000342216:I1045T;ENSP00000359767:I1045T	ENSP00000342216:I1045T	I	-	2	0	ABCA9	64519725	0.976000	0.34144	0.414000	0.26521	0.130000	0.20726	2.844000	0.48246	0.875000	0.35847	-0.274000	0.10170	ATT		0.403	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		3	63	3	63	---	---	---	---
ABHD8	79575	broad.mit.edu	37	19	17405642	17405642	+	Silent	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:17405642G>A	ENST00000247706.3	-	3	1013	c.774C>T	c.(772-774)tgC>tgT	p.C258C	MRPL34_ENST00000595444.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	258							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CCAGGAATGTGCAGAAAGAGA	0.532																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(772-774)tgC>tgT		abhydrolase domain containing 8							66.0	54.0	58.0					19																	17405642		2203	4300	6503	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17405642G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.774C>T	19.37:g.17405642G>A						MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.C258C	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			3	1013	-			258					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.774C>T	CCDS12355.1																																																																																				0.532	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		3	21	3	21	---	---	---	---
ZNF285	26974	broad.mit.edu	37	19	44891888	44891888	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:44891888C>A	ENST00000330997.4	-	4	583	c.519G>T	c.(517-519)gaG>gaT	p.E173D	ZNF285_ENST00000544719.2_Missense_Mutation_p.E173D|ZNF285_ENST00000591679.1_Missense_Mutation_p.E180D|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGTACAATTTCTCTTCCATGT	0.478																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(517-519)gaG>gaT		zinc finger protein 285							101.0	101.0	101.0					19																	44891888		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44891888C>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.519G>T	19.37:g.44891888C>A	ENSP00000333595:p.Glu173Asp					ZNF285_ENST00000591679.1_Missense_Mutation_p.E180D|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.E173D	p.E173D	NM_152354.3	NP_689567.3					4	583	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.519G>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	9.702	1.154737	0.21371	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06449	3.3	3.11	2.05	0.26809	.	.	.	.	.	T	0.06781	0.0173	L	0.56199	1.76	0.23156	N	0.998201	P;P	0.46784	0.884;0.884	B;B	0.37198	0.243;0.243	T	0.28964	-1.0027	9	0.48119	T	0.1	.	9.0135	0.36155	0.0:0.8829:0.0:0.1171	.	197;173	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	D	196;173	ENSP00000333595:E173D	ENSP00000333595:E173D	E	-	3	2	ZNF285	49583728	0.000000	0.05858	0.006000	0.13384	0.050000	0.14768	-0.650000	0.05378	0.639000	0.30564	0.454000	0.30748	GAG		0.478	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		5	132	5	132	---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48636261	48636261	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:48636261T>C	ENST00000263274.7	-	18	2122	c.1703A>G	c.(1702-1704)aAa>aGa	p.K568R	LIG1_ENST00000536218.1_Missense_Mutation_p.K500R|LIG1_ENST00000427526.2_Missense_Mutation_p.K537R	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	568					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCCGTCATATTTGTATTCGCA	0.572								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(1702-1704)aAa>aGa	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						183.0	168.0	173.0					19																	48636261		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48636261T>C		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1703A>G	19.37:g.48636261T>C	ENSP00000263274:p.Lys568Arg					LIG1_ENST00000536218.1_Missense_Mutation_p.K500R|LIG1_ENST00000427526.2_Missense_Mutation_p.K537R	p.K568R	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	18	2122	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	568					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.1703A>G	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818260	0.90790	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	D;D;D	0.97665	-4.48;-4.48;-4.48	5.48	5.48	0.80851	DNA ligase, ATP-dependent, central (1);DNA ligase, ATP-dependent, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99330	0.9765	H	0.99952	5.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97955	1.0334	10	0.87932	D	0	-20.0359	13.8169	0.63297	0.0:0.0:0.0:1.0	.	537;500;568	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	R	568;599;537;500	ENSP00000263274:K568R;ENSP00000442841:K537R;ENSP00000441531:K500R	ENSP00000263274:K568R	K	-	2	0	LIG1	53328073	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	6.890000	0.75633	2.215000	0.71742	0.533000	0.62120	AAA		0.572	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		7	197	7	197	---	---	---	---
ZNF548	147694	broad.mit.edu	37	19	57908537	57908537	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:57908537C>T	ENST00000366197.5	+	2	387	c.137C>T	c.(136-138)tCa>tTa	p.S46L	AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.S58L|ZNF548_ENST00000597400.1_Missense_Mutation_p.S58L|AC003002.6_ENST00000600421.1_3'UTR|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000598895.1_Missense_Mutation_p.S58L	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTTGTCCTCACTAGGTAAG	0.542																																						ENST00000366197.5																			0				breast(1)	1						c.(136-138)tCa>tTa		zinc finger protein 548							429.0	387.0	401.0					19																	57908537		2203	4300	6503	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57908537C>T	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.137C>T	19.37:g.57908537C>T	ENSP00000379482:p.Ser46Leu					AC003002.4_ENST00000597658.1_Intron|AC003002.6_ENST00000600421.1_3'UTR|ZNF548_ENST00000336128.7_Missense_Mutation_p.S58L|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.S58L|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000598895.1_Missense_Mutation_p.S58L	p.S46L	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	387	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	46			KRAB.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.137C>T	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460892	0.63513	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.03004	4.08;4.08	2.55	1.48	0.22813	Krueppel-associated box (4);	.	.	.	.	T	0.18341	0.0440	M	0.87758	2.905	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	T	0.02179	-1.1200	9	0.59425	D	0.04	.	9.3783	0.38297	0.0:0.7785:0.2215:0.0	.	58;46	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	L	58;46	ENSP00000337555:S58L;ENSP00000379482:S46L	ENSP00000337555:S58L	S	+	2	0	ZNF548	62600349	0.000000	0.05858	0.003000	0.11579	0.622000	0.37654	0.211000	0.17474	0.638000	0.30545	0.563000	0.77884	TCA		0.542	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		129	219	129	219	---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28338099	28338099	+	Silent	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr21:28338099C>T	ENST00000284987.5	-	1	733	c.612G>A	c.(610-612)ccG>ccA	p.P204P		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	204					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGCGCGCGGCGGCAGGGCCT	0.716																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(610-612)ccG>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 5							10.0	13.0	12.0					21																	28338099		2182	4263	6445	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338099C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.612G>A	21.37:g.28338099C>T							p.P204P	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			1	733	-			204					Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.612G>A	CCDS13579.1																																																																																				0.716	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			4	6	4	6	---	---	---	---
EVA1C	59271	broad.mit.edu	37	21	33887452	33887452	+	Silent	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr21:33887452C>T	ENST00000300255.2	+	8	1751	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	EVA1C_ENST00000401402.3_Silent_p.N378N|EVA1C_ENST00000382699.3_Silent_p.N423N|EVA1C_ENST00000485488.1_3'UTR	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	426						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TATGGATGAACAGTGGTTTGG	0.463																																						ENST00000300255.2																			0											c.(1276-1278)aaC>aaT		eva-1 homolog C (C. elegans)							117.0	121.0	120.0					21																	33887452		2203	4300	6503	SO:0001819	synonymous_variant	59271							g.chr21:33887452C>T	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.1278C>T	21.37:g.33887452C>T						EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Silent_p.N378N|EVA1C_ENST00000382699.3_Silent_p.N423N	p.N426N	NM_058187.3	NP_478067.2					8	1751	+								A6ND58|Q8IXZ0	Silent	SNP	ENST00000300255.2	37	c.1278C>T	CCDS13614.1																																																																																				0.463	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		5	89	5	89	---	---	---	---
YY2	404281	broad.mit.edu	37	X	21875524	21875524	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chrX:21875524G>A	ENST00000429584.2	+	1	1420	c.922G>A	c.(922-924)Gag>Aag	p.E308K	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	308	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CCACACCGGCGAGAAGCCCTT	0.542																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(922-924)Gag>Aag		YY2 transcription factor							176.0	174.0	175.0					X																	21875524		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875524G>A	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.922G>A	X.37:g.21875524G>A	ENSP00000389381:p.Glu308Lys					MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	p.E308K	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	1420	+			308			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.922G>A	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972962	0.74246	.	.	ENSG00000230797	ENST00000429584	T	0.24350	1.86	4.6	4.6	0.57074	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.38585	0.1046	L	0.28400	0.85	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.25293	-1.0136	10	0.72032	D	0.01	.	14.034	0.64634	0.0:0.0:1.0:0.0	.	308	O15391	TYY2_HUMAN	K	308	ENSP00000389381:E308K	ENSP00000389381:E308K	E	+	1	0	YY2	21785445	1.000000	0.71417	0.998000	0.56505	0.029000	0.11900	9.657000	0.98554	2.276000	0.75962	0.544000	0.68410	GAG		0.542	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		121	19	121	19	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32634331	32634333	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:32634331_32634333delAGA	ENST00000242310.4	-	1	1334_1336	c.1245_1247delTCT	c.(1243-1248)cttctg>ctg	p.415_416LL>L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	415					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCGTCAGCCAGAAGATCAGTGC	0.433																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1243-1248)cttctg>ctg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like																																				SO:0001651	inframe_deletion	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634331_32634333delAGA	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1245_1247delTCT	9.37:g.32634334_32634336delAGA	ENSP00000418379:p.Leu416del					RP11-555J4.4_ENST00000430787.1_RNA	p.415_416LL>L	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1334_1336	-			415					Q0VG57	In_Frame_Del	DEL	ENST00000242310.4	37	c.1245_1247delTCT	CCDS35003.1																																																																																				0.433	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			7	316	7	316	---	---	---	---
