#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TRBV6-6	28601	broad.mit.edu	37	7	142162076	142162076	+	RNA	SNP	A	A	C			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr7:142162076A>C	ENST00000390371.3	-	0	242									T cell receptor beta variable 6-6																		CCAACTGAATAATAAATCAGC	0.488																																						ENST00000390371.3																			0																				183.0	182.0	183.0					7																	142162076		1955	4126	6081			0							g.chr7:142162076A>C	L36092		7q34	2012-02-07			ENSG00000211724	ENSG00000211724		"""T cell receptors / TRB locus"""	12231	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV66, TCRBV13S6A2T, TCRBV6S6			OTTHUMG00000158509		7.37:g.142162076A>C														0	242	-									RNA	SNP	ENST00000390371.3	37																																																																																						0.488	TRBV6-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351215.2	NG_001333		129	231	0	0	0	1	0	129	231				
OR52L1	338751	broad.mit.edu	37	11	6007581	6007581	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr11:6007581G>T	ENST00000332249.4	-	1	634	c.580C>A	c.(580-582)Cat>Aat	p.H194N		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATAGGCATGGCCTATGATG	0.488																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(580-582)Cat>Aat		olfactory receptor, family 52, subfamily L, member 1							109.0	100.0	103.0					11																	6007581		1957	4145	6102	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007581G>T	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.580C>A	11.37:g.6007581G>T	ENSP00000330338:p.His194Asn						p.H194N	NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	634	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	194					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.580C>A	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873334	0.33069	.	.	ENSG00000183313	ENST00000332249	T	0.00123	8.7	3.73	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000388	T	0.00524	0.0017	M	0.86097	2.795	0.38908	D	0.957464	D	0.69078	0.997	D	0.79108	0.992	T	0.75022	-0.3464	10	0.87932	D	0	.	14.4226	0.67193	0.0:0.0:1.0:0.0	.	194	Q8NGH7	O52L1_HUMAN	N	194	ENSP00000330338:H194N	ENSP00000330338:H194N	H	-	1	0	OR52L1	5964157	0.999000	0.42202	0.993000	0.49108	0.078000	0.17371	3.058000	0.49939	1.786000	0.52430	0.313000	0.20887	CAT		0.488	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		60	146	1	0	4.64219e-42	1	5.42779e-42	60	146				
TMEM79	84283	broad.mit.edu	37	1	156256177	156256177	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:156256177T>A	ENST00000405535.2	+	3	1055	c.884T>A	c.(883-885)tTc>tAc	p.F295Y	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.F295Y|TMEM79_ENST00000357501.2_Silent_p.L56L	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	295					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					ATTCTCTACTTCTTCAACCTG	0.577																																						ENST00000405535.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21						c.(883-885)tTc>tAc		transmembrane protein 79							155.0	155.0	155.0					1																	156256177		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156256177T>A	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.884T>A	1.37:g.156256177T>A	ENSP00000384748:p.Phe295Tyr					TMEM79_ENST00000295694.5_Missense_Mutation_p.F295Y|TMEM79_ENST00000357501.2_Silent_p.L56L|TMEM79_ENST00000495881.1_3'UTR	p.F295Y	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN			3	1055	+	Hepatocellular(266;0.158)		295					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.884T>A	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.946633	0.92593	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.54866	0.55;0.55	5.93	5.93	0.95920	.	0.049190	0.85682	D	0.000000	T	0.60843	0.2300	L	0.59436	1.845	0.58432	D	0.999996	D	0.89917	1.0	D	0.76575	0.988	T	0.63730	-0.6571	10	0.51188	T	0.08	-13.4699	13.7665	0.62999	0.0:0.0:0.0:1.0	.	295	Q9BSE2	TMM79_HUMAN	Y	295	ENSP00000295694:F295Y;ENSP00000384748:F295Y	ENSP00000295694:F295Y	F	+	2	0	TMEM79	154522801	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.408000	0.80041	2.271000	0.75665	0.459000	0.35465	TTC		0.577	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		5	281	0	0	0	1	0	5	281				
CSMD1	64478	broad.mit.edu	37	8	3267090	3267090	+	Silent	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:3267090G>A	ENST00000520002.1	-	14	2157	c.1602C>T	c.(1600-1602)ccC>ccT	p.P534P	CSMD1_ENST00000542608.1_Silent_p.P533P|CSMD1_ENST00000539096.1_Silent_p.P533P|CSMD1_ENST00000400186.3_Silent_p.P534P|CSMD1_ENST00000602723.1_Silent_p.P534P|CSMD1_ENST00000602557.1_Silent_p.P534P|CSMD1_ENST00000537824.1_Silent_p.P533P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	534	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCCATAGGCGGGGATTCCAG	0.478																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(1600-1602)ccC>ccT		CUB and Sushi multiple domains 1							27.0	28.0	28.0					8																	3267090		1854	4089	5943	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3267090G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1602C>T	8.37:g.3267090G>A						CSMD1_ENST00000520002.1_Silent_p.P534P|CSMD1_ENST00000537824.1_Silent_p.P533P|CSMD1_ENST00000602723.1_Silent_p.P534P|CSMD1_ENST00000400186.3_Silent_p.P534P|CSMD1_ENST00000539096.1_Silent_p.P533P|CSMD1_ENST00000542608.1_Silent_p.P533P	p.P534P			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	14	2157	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	534			Sushi 3.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.1602C>T		.	.	.	.	.	.	.	.	.	.	G	5.950	0.359300	0.11239	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.26	-10.5	0.00291	.	.	.	.	.	T	0.32941	0.0846	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49735	-0.8908	4	.	.	.	.	2.2074	0.03939	0.1834:0.1235:0.3103:0.3829	.	.	.	.	C	14	.	.	R	-	1	0	CSMD1	3254498	0.000000	0.05858	0.013000	0.15412	0.760000	0.43138	-3.066000	0.00621	-3.897000	0.00094	-2.696000	0.00138	CGC		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	15	0	0	0	1	0	4	15				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.V99F(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(295-297)Gtt>Ttt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.V99F	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	381	1	0	0.00198382	1	0.00201027	5	381				
LOC645752	645752	broad.mit.edu	37	15	78212618	78212618	+	lincRNA	SNP	A	A	G	rs201050938	byFrequency	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78212618A>G																													15.37:g.78212618A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	71	0	0	0	1	0	6	71				
PARP10	84875	broad.mit.edu	37	8	145058577	145058577	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:145058577C>A	ENST00000313028.7	-	6	1575	c.1481G>T	c.(1480-1482)tGc>tTc	p.C494F	PARP10_ENST00000525773.1_Missense_Mutation_p.C506F|PARP10_ENST00000524918.1_Missense_Mutation_p.C494F|PARP10_ENST00000533665.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	494					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCGCCTGGCAGGAAGCCTG	0.612																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1480-1482)tGc>tTc		poly (ADP-ribose) polymerase family, member 10							18.0	22.0	20.0					8																	145058577		2199	4289	6488	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145058577C>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1481G>T	8.37:g.145058577C>A	ENSP00000325618:p.Cys494Phe					PARP10_ENST00000525773.1_Missense_Mutation_p.C506F|PARP10_ENST00000524918.1_Missense_Mutation_p.C494F	p.C494F	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	1575	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		494					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.1481G>T	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419590	0.42918	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.20738	2.05;2.08;2.08	4.35	4.35	0.52113	.	0.000000	0.50627	D	0.000103	T	0.45478	0.1344	M	0.69823	2.125	0.49051	D	0.999741	D;D	0.89917	1.0;0.99	D;D	0.85130	0.997;0.921	T	0.49466	-0.8937	10	0.87932	D	0	.	14.414	0.67137	0.0:1.0:0.0:0.0	.	506;494	E9PNI7;Q53GL7	.;PAR10_HUMAN	F	494;200;494;506	ENSP00000431620:C494F;ENSP00000325618:C494F;ENSP00000434776:C506F	ENSP00000325618:C494F	C	-	2	0	PARP10	145130565	1.000000	0.71417	0.388000	0.26195	0.006000	0.05464	5.463000	0.66712	1.974000	0.57490	0.645000	0.84053	TGC		0.612	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		3	44	1	0	0.115264	1	0.115264	3	44				
TNS3	64759	broad.mit.edu	37	7	47384421	47384421	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr7:47384421C>T	ENST00000398879.1	-	20	2948	c.2582G>A	c.(2581-2583)cGc>cAc	p.R861H	TNS3_ENST00000311160.9_Missense_Mutation_p.R861H|TNS3_ENST00000355730.3_Missense_Mutation_p.R621H			Q68CZ2	TENS3_HUMAN	tensin 3	861					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGGAGGATGGCGCAGCGCTGT	0.582																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2581-2583)cGc>cAc		tensin 3							63.0	70.0	68.0					7																	47384421		2029	4181	6210	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47384421C>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2582G>A	7.37:g.47384421C>T	ENSP00000381854:p.Arg861His					TNS3_ENST00000311160.9_Missense_Mutation_p.R861H|TNS3_ENST00000355730.3_Missense_Mutation_p.R621H	p.R861H			Q68CZ2	TENS3_HUMAN			20	2948	-			861					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2582G>A	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299455	0.23650	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93811	-2.87;-2.87;-3.29;-2.97	5.55	-4.27	0.03744	.	3.025520	0.00669	N	0.000625	D	0.84088	0.5395	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75303	-0.3365	10	0.15499	T	0.54	-1.7997	12.2745	0.54726	0.0:0.2411:0.0:0.7589	.	861	Q68CZ2	TENS3_HUMAN	H	861;971;861;621;317;964	ENSP00000312143:R861H;ENSP00000381854:R861H;ENSP00000347968:R621H;ENSP00000414358:R964H	ENSP00000312143:R861H	R	-	2	0	TNS3	47350946	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.964000	0.03833	-0.759000	0.04684	0.462000	0.41574	CGC		0.582	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		19	59	0	0	0	1	0	19	59				
IGHA2	3494	broad.mit.edu	37	14	106054658	106054658	+	RNA	SNP	T	T	G			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr14:106054658T>G	ENST00000390539.2	-	0	74				AL928742.1_ENST00000581377.1_RNA|AL928742.2_ENST00000578042.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										GGACCAGGCATGCGACGACCA	0.622																																						ENST00000390539.2																			0																				70.0	78.0	75.0					14																	106054658		2094	4203	6297			0							g.chr14:106054658T>G	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106054658T>G														0	74	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.622	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		4	82	0	0	0	1	0	4	82				
SYNE1	23345	broad.mit.edu	37	6	152804261	152804261	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr6:152804261C>T	ENST00000367255.5	-	14	1910	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	SYNE1_ENST00000413186.2_Missense_Mutation_p.E437K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E437K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E444K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E427K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E437K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E437K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E437K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E444K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	437					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGCTGTTTCCTCGTGGACC	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(1309-1311)Gaa>Aaa		spectrin repeat containing, nuclear envelope 1							345.0	324.0	331.0					6																	152804261		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152804261C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1309G>A	6.37:g.152804261C>T	ENSP00000356224:p.Glu437Lys	HNSCC(10;0.0054)				SYNE1_ENST00000367248.3_Missense_Mutation_p.E427K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E444K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E444K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E437K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E437K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E437K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E437K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E437K	p.E437K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	14	1910	-		Ovarian(120;0.0955)	437					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.1309G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	35	5.466821	0.96257	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.91631	0.49;0.5;0.4;0.49;0.69;-2.29;-2.44;-2.42;-2.64;-2.88	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000021	D	0.95915	0.8670	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.986;0.967;0.986;0.992	D;P;P;P;D	0.83275	0.996;0.864;0.817;0.864;0.936	D	0.94264	0.7505	10	0.45353	T	0.12	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	420;437;437;437;444	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	437;444;437;444;437;437;427;437;437;420	ENSP00000356224:E437K;ENSP00000396024:E444K;ENSP00000265368:E437K;ENSP00000390975:E444K;ENSP00000341887:E437K;ENSP00000356222:E437K;ENSP00000356217:E427K;ENSP00000414510:E437K;ENSP00000446021:E437K;ENSP00000441264:E420K	ENSP00000265368:E437K	E	-	1	0	SYNE1	152845954	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.726000	0.68515	2.941000	0.99782	0.655000	0.94253	GAA		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		128	262	0	0	0	1	0	128	262				
ZNF717	100131827	broad.mit.edu	37	3	75790798	75790798	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:75790798G>A	ENST00000478296.1	-	0	273				ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000491507.1_5'UTR			Q9BY31	ZN717_HUMAN	zinc finger protein 717						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCAGCATCACGTCCCTGTACA	0.502																																						ENST00000478296.1																			0				autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19								zinc finger protein 717							18.0	14.0	15.0					3																	75790798		450	1250	1700			100131827				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:75790798G>A	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.-4C>T	3.37:g.75790798G>A						ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000400845.3_Silent_p.D42D				C9JSV9	C9JSV9_HUMAN			0	273	-									Translation_Start_Site	SNP	ENST00000478296.1	37																																																																																						0.502	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223		5	18	0	0	0	1	0	5	18				
CDH23	64072	broad.mit.edu	37	10	73558150	73558150	+	Missense_Mutation	SNP	C	C	T	rs370912192		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr10:73558150C>T	ENST00000224721.6	+	49	6889	c.6884C>T	c.(6883-6885)aCg>aTg	p.T2295M	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.T50M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2290					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AATGACAATACGCCCCAGTTC	0.612																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(6883-6885)aCg>aTg		cadherin-related 23		C	MET/THR,MET/THR,MET/THR	1,4279		0,1,2139	79.0	83.0	81.0		149,149,6869	5.5	0.7	10		81	0,8494		0,0,4247	no	missense,missense,missense	CDH23	NM_001171933.1,NM_001171934.1,NM_022124.5	81,81,81	0,1,6386	TT,TC,CC		0.0,0.0234,0.0078	probably-damaging,probably-damaging,probably-damaging	50/1115,50/1080,2290/3355	73558150	1,12773	2140	4247	6387	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73558150C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6884C>T	10.37:g.73558150C>T	ENSP00000224721:p.Thr2295Met					CDH23_ENST00000398788.3_Missense_Mutation_p.T50M|CDH23_ENST00000475158.1_3'UTR	p.T2295M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			49	6889	+			2290					C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.6884C>T		.	.	.	.	.	.	.	.	.	.	C	21.9	4.212400	0.79240	2.34E-4	0.0	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.59502	0.26	5.53	5.53	0.82687	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.059487	0.64402	D	0.000002	T	0.74921	0.3780	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.63488	0.915;0.836	T	0.72896	-0.4153	10	0.35671	T	0.21	.	19.4544	0.94882	0.0:1.0:0.0:0.0	.	2290;2290	E9PEX1;Q9H251	.;CAD23_HUMAN	M	2295;2290;2293;50	ENSP00000381768:T50M	ENSP00000224721:T2295M	T	+	2	0	CDH23	73228156	1.000000	0.71417	0.663000	0.29738	0.422000	0.31414	6.070000	0.71220	2.610000	0.88304	0.655000	0.94253	ACG		0.612	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		12	83	0	0	0	1	0	12	83				
PCNT	5116	broad.mit.edu	37	21	47851559	47851559	+	Silent	SNP	A	A	G			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr21:47851559A>G	ENST00000359568.5	+	38	8288	c.8181A>G	c.(8179-8181)tcA>tcG	p.S2727S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2727					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCGAGCACTCACGCTGCGAGG	0.622																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(8179-8181)tcA>tcG		pericentrin							47.0	44.0	45.0					21																	47851559		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851559A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8181A>G	21.37:g.47851559A>G						PCNT_ENST00000480896.1_3'UTR	p.S2727S	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			38	8288	+	Breast(49;0.112)		2727					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.8181A>G	CCDS33592.1																																																																																				0.622	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	85	0	0	0	1	0	5	85				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	83	0	0	0	1	0	5	83				
GABRD	2563	broad.mit.edu	37	1	1956993	1956993	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:1956993C>T	ENST00000378585.4	+	4	369	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	96					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCAGAGCTGGCGGGACAGCAG	0.652																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(286-288)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, delta							90.0	90.0	90.0					1																	1956993		2203	4300	6503	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1956993C>T	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.286C>T	1.37:g.1956993C>T	ENSP00000367848:p.Arg96Trp						p.R96W	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	369	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	96					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.286C>T	CCDS36.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895679	0.72639	.	.	ENSG00000187730	ENST00000378585	T	0.78246	-1.16	4.4	2.43	0.29744	Neurotransmitter-gated ion-channel ligand-binding (3);	0.062950	0.64402	D	0.000008	D	0.87438	0.6177	M	0.84773	2.715	0.51767	D	0.999938	D	0.89917	1.0	D	0.70935	0.971	D	0.88186	0.2874	10	0.72032	D	0.01	-17.4544	12.6344	0.56675	0.4256:0.5744:0.0:0.0	.	96	O14764	GBRD_HUMAN	W	96	ENSP00000367848:R96W	ENSP00000367848:R96W	R	+	1	2	GABRD	1946853	0.995000	0.38212	0.999000	0.59377	0.994000	0.84299	0.411000	0.21115	0.554000	0.29061	0.561000	0.74099	CGG		0.652	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		5	159	0	0	0	1	0	5	159				
TPTE	7179	broad.mit.edu	37	21	10916473	10916473	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr21:10916473C>A	ENST00000361285.4	-	20	1502	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N	TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Missense_Mutation_p.K373N	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	391	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACATATCTCTTCTGAAAAG	0.338																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1117-1119)aaG>aaT		transmembrane phosphatase with tensin homology							106.0	99.0	101.0					21																	10916473		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10916473C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1173G>T	21.37:g.10916473C>A	ENSP00000355208:p.Lys391Asn					TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000361285.4_Missense_Mutation_p.K391N	p.K373N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	19	1486	-			391			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1119G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.398316	0.00198	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98585	-5.01;-5.01;-5.01	1.79	1.79	0.24919	Phosphatase tensin type (1);	0.135724	0.64402	N	0.000003	D	0.89795	0.6818	N	0.02412	-0.56	0.19300	N	0.999971	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.82331	-0.0510	10	0.12766	T	0.61	-9.0395	4.8086	0.13331	0.6724:0.3276:0.0:0.0	.	353;373;391	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	373;391;353	ENSP00000298232:K373N;ENSP00000355208:K391N;ENSP00000344441:K353N	ENSP00000298232:K373N	K	-	3	2	TPTE	9938344	0.322000	0.24634	0.981000	0.43875	0.164000	0.22412	0.135000	0.15952	0.160000	0.19432	-1.447000	0.01057	AAG		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			4	130	1	0	0.00024832	1	0.000258525	4	130				
DMTF1	9988	broad.mit.edu	37	7	86815219	86815219	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr7:86815219G>A	ENST00000394703.5	+	14	1687	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	DMTF1_ENST00000432937.2_Missense_Mutation_p.R287H|DMTF1_ENST00000413276.2_Missense_Mutation_p.R375H|DMTF1_ENST00000414194.2_Missense_Mutation_p.R109H|DMTF1_ENST00000331242.7_Missense_Mutation_p.R375H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	375	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AGTAGTGTCCGTTCACCACAA	0.388																																						ENST00000414194.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(325-327)cGt>cAt		cyclin D binding myb-like transcription factor 1							253.0	223.0	233.0					7																	86815219		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86815219G>A	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1124G>A	7.37:g.86815219G>A	ENSP00000378193:p.Arg375His					DMTF1_ENST00000394703.5_Missense_Mutation_p.R375H|DMTF1_ENST00000331242.7_Missense_Mutation_p.R375H|DMTF1_ENST00000432937.2_Missense_Mutation_p.R287H|DMTF1_ENST00000413276.2_Missense_Mutation_p.R375H	p.R109H			Q9Y222	DMTF1_HUMAN			12	2118	+	Esophageal squamous(14;0.0058)		375			Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.326G>A	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	36	5.848908	0.97023	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T;T	0.53857	0.6;0.66;0.62;0.6;0.6	6.08	6.08	0.98989	SANT domain, DNA binding (1);MYB-like (1);	0.044769	0.85682	D	0.000000	T	0.65760	0.2722	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.65286	-0.6205	10	0.62326	D	0.03	-14.0233	19.6516	0.95815	0.0:0.0:1.0:0.0	.	375	Q9Y222	DMTF1_HUMAN	H	375;375;287;375;109	ENSP00000332171:R375H;ENSP00000402627:R375H;ENSP00000412532:R287H;ENSP00000378193:R375H;ENSP00000415910:R109H	ENSP00000332171:R375H	R	+	2	0	DMTF1	86653155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.624000	0.98398	2.894000	0.99253	0.655000	0.94253	CGT		0.388	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		4	161	0	0	0	1	0	4	161				
PCDHB12	56124	broad.mit.edu	37	5	140589269	140589269	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr5:140589269G>A	ENST00000239450.2	+	1	979	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	264	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTTGTGACCGTCTCAGCCTG	0.423																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(790-792)Gtc>Atc									145.0	152.0	150.0					5																	140589269		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589269G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.790G>A	5.37:g.140589269G>A	ENSP00000239450:p.Val264Ile					PCDHB12_ENST00000541609.1_Intron	p.V264I	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	979	+			264			Cadherin 3.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.790G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830198	0.32329	.	.	ENSG00000120328	ENST00000239450	T	0.02787	4.16	4.16	4.16	0.48862	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.05593	0.0147	M	0.67397	2.05	0.80722	D	1	P	0.36222	0.544	B	0.33846	0.171	T	0.30765	-0.9967	9	0.59425	D	0.04	.	16.4004	0.83639	0.0:0.0:1.0:0.0	.	264	Q9Y5F1	PCDBC_HUMAN	I	264	ENSP00000239450:V264I	ENSP00000239450:V264I	V	+	1	0	PCDHB12	140569453	0.990000	0.36364	0.003000	0.11579	0.007000	0.05969	2.831000	0.48144	2.027000	0.59764	0.491000	0.48974	GTC		0.423	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		93	166	0	0	0	1	0	93	166				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	108	0	0	0	1	0	4	108				
ZFC3H1	196441	broad.mit.edu	37	12	72057183	72057183	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr12:72057183C>T	ENST00000378743.3	-	1	566	c.208G>A	c.(208-210)Ggt>Agt	p.G70S	ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.G70S|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.G70S|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	70	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAGAGCCACCGCCTCCGCCA	0.687											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(208-210)Ggt>Agt		zinc finger, C3H1-type containing							42.0	51.0	48.0					12																	72057183		2017	4184	6201	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057183C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.208G>A	12.37:g.72057183C>T	ENSP00000368017:p.Gly70Ser		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.G70S|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.G70S	p.G70S	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	566	-			70			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.208G>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306510	0.60305	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.36878	1.23	4.55	4.55	0.56014	.	0.213391	0.32416	N	0.006122	T	0.18383	0.0441	N	0.14661	0.345	0.80722	D	1	B;B;B	0.24533	0.065;0.007;0.105	B;B;B	0.12837	0.008;0.005;0.006	T	0.08493	-1.0719	10	0.25106	T	0.35	.	7.2951	0.26389	0.1685:0.7421:0.0:0.0894	.	70;70;70	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	S	70	ENSP00000368017:G70S	ENSP00000368017:G70S	G	-	1	0	ZFC3H1	70343450	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.289000	0.43523	2.368000	0.80403	0.455000	0.32223	GGT		0.687	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		4	172	0	0	0	1	0	4	172				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			10	93	0	0	0	1	0	10	93				
FOXP2	93986	broad.mit.edu	37	7	114269988	114269988	+	Silent	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr7:114269988G>A	ENST00000393494.2	+	5	804	c.525G>A	c.(523-525)caG>caA	p.Q175Q	FOXP2_ENST00000393489.3_Silent_p.Q83Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q83Q|FOXP2_ENST00000360232.4_Silent_p.Q175Q|FOXP2_ENST00000350908.4_Silent_p.Q175Q|FOXP2_ENST00000378237.3_Silent_p.Q175Q|FOXP2_ENST00000393500.3_Silent_p.Q100Q|FOXP2_ENST00000390668.3_Silent_p.Q199Q|FOXP2_ENST00000403559.4_Silent_p.Q192Q|FOXP2_ENST00000408937.3_Silent_p.Q200Q|FOXP2_ENST00000393498.2_Silent_p.Q155Q			O15409	FOXP2_HUMAN	forkhead box P2	175	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						aacaacaacagcagcaacaac	0.502																																						ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(298-300)caG>caA		forkhead box P2							39.0	36.0	37.0					7																	114269988		2200	4289	6489	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269988G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.525G>A	7.37:g.114269988G>A						FOXP2_ENST00000390668.3_Silent_p.Q199Q|FOXP2_ENST00000393491.3_Silent_p.Q83Q|FOXP2_ENST00000408937.3_Silent_p.Q200Q|FOXP2_ENST00000360232.4_Silent_p.Q175Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q155Q|FOXP2_ENST00000393489.3_Silent_p.Q83Q|FOXP2_ENST00000403559.4_Silent_p.Q192Q|FOXP2_ENST00000393494.2_Silent_p.Q175Q|FOXP2_ENST00000350908.4_Silent_p.Q175Q|FOXP2_ENST00000378237.3_Silent_p.Q175Q	p.Q100Q			O15409	FOXP2_HUMAN			11	1120	+			175			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.300G>A	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	95	0	0	0	1	0	6	95				
SLC5A1	6523	broad.mit.edu	37	22	32495175	32495175	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr22:32495175T>A	ENST00000266088.4	+	12	1536	c.1286T>A	c.(1285-1287)tTt>tAt	p.F429Y	SLC5A1_ENST00000543737.1_Missense_Mutation_p.F302Y	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	429					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	TTCAGGTTGTTTATCCTGGTG	0.368																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1285-1287)tTt>tAt		solute carrier family 5 (sodium/glucose cotransporter), member 1							111.0	101.0	104.0					22																	32495175		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32495175T>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1286T>A	22.37:g.32495175T>A	ENSP00000266088:p.Phe429Tyr					SLC5A1_ENST00000543737.1_Missense_Mutation_p.F302Y	p.F429Y	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			12	1536	+			429					B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.1286T>A	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.865000	0.91511	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.88354	-2.37;-2.37	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.96062	0.8717	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97228	0.9882	10	0.87932	D	0	.	14.4294	0.67238	0.0:0.0:0.0:1.0	.	429	P13866	SC5A1_HUMAN	Y	429;302	ENSP00000266088:F429Y;ENSP00000444898:F302Y	ENSP00000266088:F429Y	F	+	2	0	SLC5A1	30825175	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.029000	0.70895	2.003000	0.58678	0.455000	0.32223	TTT		0.368	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		7	185	0	0	0	1	0	7	185				
GLS2	27165	broad.mit.edu	37	12	56868364	56868364	+	Silent	SNP	G	G	A	rs200425538		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr12:56868364G>A	ENST00000311966.4	-	12	1466	c.1188C>T	c.(1186-1188)tgC>tgT	p.C396C	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	396					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CATACATGCCGCAGGAATGCA	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		21825	0.001		0.0	False		,,,				2504	0.0					ENST00000311966.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1186-1188)tgC>tgT		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						96.0	88.0	91.0					12																	56868364		2203	4300	6503	SO:0001819	synonymous_variant	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56868364G>A		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1188C>T	12.37:g.56868364G>A						GLS2_ENST00000476991.1_5'UTR	p.C396C	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN			12	1466	-			396					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	ENST00000311966.4	37	c.1188C>T	CCDS8921.1																																																																																				0.562	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		5	134	0	0	0	1	0	5	134				
PLB1	151056	broad.mit.edu	37	2	28821556	28821556	+	Silent	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr2:28821556C>T	ENST00000327757.5	+	35	2447	c.2403C>T	c.(2401-2403)taC>taT	p.Y801Y	PLB1_ENST00000422425.2_Silent_p.Y790Y	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	801	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCACAGGCTACGCCGTGGGCA	0.532																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(2368-2370)taC>taT		phospholipase B1							146.0	138.0	141.0					2																	28821556		2203	4300	6503	SO:0001819	synonymous_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28821556C>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2403C>T	2.37:g.28821556C>T						PLB1_ENST00000327757.5_Silent_p.Y801Y	p.Y790Y	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			34	2414	+	Acute lymphoblastic leukemia(172;0.155)		801			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	c.2370C>T	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	6.811	0.518642	0.13005	.	.	ENSG00000163803	ENST00000404858	.	.	.	5.84	-0.115	0.13560	.	.	.	.	.	T	0.49677	0.1571	.	.	.	0.34329	D	0.687496	.	.	.	.	.	.	T	0.55276	-0.8166	4	.	.	.	-14.1401	9.9033	0.41362	0.0:0.4591:0.0:0.5409	.	.	.	.	M	789	.	.	T	+	2	0	PLB1	28675060	0.006000	0.16342	0.267000	0.24556	0.763000	0.43281	-1.473000	0.02339	-0.319000	0.08652	0.561000	0.74099	ACG		0.532	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			9	189	0	0	0	1	0	9	189				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																						ENST00000391417.4																			4	Substitution - Missense(4)	p.S57P(4)	urinary_tract(2)|kidney(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(169-171)Tct>Cct		keratin associated protein 4-7							18.0	28.0	25.0					17																	39240627		691	1590	2281	SO:0001583	missense	100132476							g.chr17:39240627T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro						p.S57P	NM_033061.3	NP_149050.3					1	169	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.169T>C	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			5	115	0	0	0	1	0	5	115				
HDDC3	374659	broad.mit.edu	37	15	91475096	91475096	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr15:91475096G>A	ENST00000394272.3	-	3	275	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	HDDC3_ENST00000559898.1_Missense_Mutation_p.R83W|AC068831.3_ENST00000448987.1_RNA|AC068831.3_ENST00000438890.1_RNA|HDDC3_ENST00000330334.3_Missense_Mutation_p.R83W|UNC45A_ENST00000394275.2_Intron			Q8N4P3	MESH1_HUMAN	HD domain containing 3	83	HD.						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity (GO:0008893)|metal ion binding (GO:0046872)			NS(1)|ovary(1)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACCAGGCGCCGCACTTGTGCC	0.622											OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330334.3																			0				NS(1)|ovary(1)	2						c.(247-249)Cgg>Tgg		HD domain containing 3							81.0	78.0	79.0					15																	91475096		2198	4298	6496	SO:0001583	missense	374659						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity	g.chr15:91475096G>A	AK057584	CCDS10366.1, CCDS66866.1	15q26.1	2005-08-22			ENSG00000184508	ENSG00000184508			30522	protein-coding gene	gene with protein product						12477932	Standard	NM_001286451		Approved	MGC45386	uc002bqe.4	Q8N4P3	OTTHUMG00000141260	ENST00000394272.3:c.247C>T	15.37:g.91475096G>A	ENSP00000377814:p.Arg83Trp		OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1282	HDDC3_ENST00000559898.1_Missense_Mutation_p.R83W|UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000394272.3_Missense_Mutation_p.R83W	p.R83W	NM_198527.2	NP_940929.1	Q8N4P3	MESH1_HUMAN	Lung(145;0.189)		3	252	-	Lung NSC(78;0.0771)|all_lung(78;0.137)		83			HD.			Missense_Mutation	SNP	ENST00000394272.3	37	c.247C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.070623	0.76301	.	.	ENSG00000184508	ENST00000394272;ENST00000330334	.	.	.	4.58	3.62	0.41486	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);	0.128818	0.51477	D	0.000094	T	0.80732	0.4679	M	0.89715	3.055	0.47778	D	0.999517	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.933	D	0.84761	0.0762	9	0.87932	D	0	-2.5768	12.8845	0.58036	0.0:0.0:0.8373:0.1627	.	83;83	Q8N4P3;Q8N4P3-2	MESH1_HUMAN;.	W	83	.	ENSP00000330721:R83W	R	-	1	2	HDDC3	89276100	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.195000	0.42677	2.388000	0.81334	0.555000	0.69702	CGG		0.622	HDDC3-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000280403.2	NM_198527		5	144	0	0	0	1	0	5	144				
TEX13A	56157	broad.mit.edu	37	X	104464292	104464292	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chrX:104464292C>T	ENST00000413579.1	-	3	697	c.586G>A	c.(586-588)Gag>Aag	p.E196K	TEX13A_ENST00000372578.3_Missense_Mutation_p.E196K|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.E196K|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	196							zinc ion binding (GO:0008270)	p.E196Q(1)		large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCCTCTGCTCTTCTTCTGCT	0.652																																						ENST00000372578.3																			1	Substitution - Missense(1)	p.E196Q(1)	ovary(1)	large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(586-588)Gag>Aag		testis expressed 13A							23.0	26.0	25.0					X																	104464292		2092	4131	6223	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464292C>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.586G>A	X.37:g.104464292C>T	ENSP00000399753:p.Glu196Lys					TEX13A_ENST00000413579.1_Missense_Mutation_p.E196K|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.E196K	p.E196K	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			3	697	-			196					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.586G>A		.	.	.	.	.	.	.	.	.	.	C	0.005	-2.187916	0.00305	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	1.69	-3.39	0.04868	.	1.807170	0.03666	N	0.243298	T	0.26011	0.0634	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07751	-1.0756	8	0.31617	T	0.26	.	3.9763	0.09476	0.0:0.3334:0.3416:0.325	.	196;196	C9JWK0;Q9BXU3	.;TX13A_HUMAN	K	196	.	ENSP00000361656:E196K	E	-	1	0	TEX13A	104350948	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.013000	0.03645	-2.080000	0.00870	-0.735000	0.03563	GAG		0.652	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		19	5	0	0	0	1	0	19	5				
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	byFrequency	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTTGTCAACATTCGTGACAGA	0.413																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698264T>C	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698264T>C								NR_003264.2						0	1608	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.413	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			6	89	0	0	0	1	0	6	89				
DLG2	1740	broad.mit.edu	37	11	83195218	83195218	+	Silent	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr11:83195218G>A	ENST00000398309.2	-	17	2402	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000280241.8_Silent_p.F683F|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000543673.1_Silent_p.F749F|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000376104.2_Silent_p.F749F|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000531015.1_Silent_p.F611F	NM_001364.3	NP_001355.2	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	350					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTTCTTGTAGAATGGGAATT	0.393																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1930-1932)ttC>ttT		discs, large homolog 2 (Drosophila)							123.0	126.0	125.0					11																	83195218		2195	4299	6494	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83195218G>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398309.2:c.1932C>T	11.37:g.83195218G>A						DLG2_ENST00000280241.8_Silent_p.F683F|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000543673.1_Silent_p.F749F|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Silent_p.F749F|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000531015.1_Silent_p.F611F	p.F644F	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			17	2402	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	644					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000398309.2	37	c.1932C>T	CCDS41696.1																																																																																				0.393	DLG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259243.3	NM_001364		35	138	0	0	0	1	0	35	138				
TYR	7299	broad.mit.edu	37	11	88911727	88911727	+	Silent	SNP	T	T	C			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr11:88911727T>C	ENST00000263321.5	+	1	1108	c.606T>C	c.(604-606)caT>caC	p.H202H	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	202					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	ATTTTGCCCATGAAGCACCAG	0.418																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(604-606)caT>caC		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						176.0	168.0	171.0					11																	88911727		2201	4299	6500	SO:0001819	synonymous_variant	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911727T>C	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.606T>C	11.37:g.88911727T>C						TYR_ENST00000526139.1_3'UTR	p.H202H	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	1108	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	202					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	c.606T>C	CCDS8284.1																																																																																				0.418	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		6	147	0	0	0	1	0	6	147				
COL22A1	169044	broad.mit.edu	37	8	139833397	139833397	+	Silent	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:139833397G>A	ENST00000303045.6	-	7	1673	c.1227C>T	c.(1225-1227)taC>taT	p.Y409Y	COL22A1_ENST00000435777.1_Silent_p.Y409Y	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	409	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.Y409Y(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCACACTGTCGTAGAGGCGCT	0.587										HNSCC(7;0.00092)																												ENST00000303045.6																			1	Substitution - coding silent(1)	p.Y409Y(1)	large_intestine(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1225-1227)taC>taT		collagen, type XXII, alpha 1							171.0	121.0	138.0					8																	139833397		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139833397G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1227C>T	8.37:g.139833397G>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.Y409Y	p.Y409Y	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		7	1673	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		409			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.1227C>T	CCDS6376.1																																																																																				0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		32	53	0	0	0	1	0	32	53				
DNM1P47	100216544	broad.mit.edu	37	15	102294715	102294715	+	RNA	SNP	C	C	T	rs377395363		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr15:102294715C>T	ENST00000561463.1	+	0	2761									DNM1 pseudogene 47																		AGCAGGCAGACCAAGGAGTTC	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102294715C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294715C>T														0	2761	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	24	0	0	0	1	0	5	24				
ANK3	288	broad.mit.edu	37	10	61967816	61967816	+	Missense_Mutation	SNP	G	G	A	rs375186550		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr10:61967816G>A	ENST00000280772.2	-	10	1363	c.1172C>T	c.(1171-1173)gCt>gTt	p.A391V	ANK3_ENST00000503366.1_Missense_Mutation_p.A374V|ANK3_ENST00000373827.2_Missense_Mutation_p.A385V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	391					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTGGGGTTAGCTTTCTTATC	0.527																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(1171-1173)gCt>gTt		ankyrin 3, node of Ranvier (ankyrin G)		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	132.0	123.0	126.0		1154,1121,1172	4.7	1.0	10		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ANK3	NM_001204403.1,NM_001204404.1,NM_020987.3	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	385/1862,374/1869,391/4378	61967816	1,13005	2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61967816G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1172C>T	10.37:g.61967816G>A	ENSP00000280772:p.Ala391Val					ANK3_ENST00000373827.2_Missense_Mutation_p.A385V|ANK3_ENST00000503366.1_Missense_Mutation_p.A374V	p.A391V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			10	1363	-			391					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.1172C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652295	0.88056	0.0	1.16E-4	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304	T;T;T	0.24908	1.83;1.83;1.83	4.67	4.67	0.58626	Ankyrin repeat-containing domain (4);	0.000000	0.41938	D	0.000796	T	0.48926	0.1527	L	0.61218	1.895	0.80722	D	1	P;P;D;P	0.60160	0.545;0.769;0.987;0.749	B;P;D;P	0.68765	0.37;0.527;0.96;0.478	T	0.52238	-0.8602	10	0.87932	D	0	.	17.7769	0.88511	0.0:0.0:1.0:0.0	.	374;52;385;391	E9PE32;E7EMJ1;Q5CZH9;Q12955	.;.;.;ANK3_HUMAN	V	391;385;374;353;52;52	ENSP00000280772:A391V;ENSP00000362933:A385V;ENSP00000425236:A374V	ENSP00000280772:A391V	A	-	2	0	ANK3	61637822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.657000	0.83745	2.430000	0.82344	0.563000	0.77884	GCT		0.527	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		7	102	0	0	0	1	0	7	102				
KLF12	11278	broad.mit.edu	37	13	74269718	74269718	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr13:74269718C>A	ENST00000377669.2	-	7	1144	c.1118G>T	c.(1117-1119)gGa>gTa	p.G373V	KLF12_ENST00000377666.4_Missense_Mutation_p.G373V	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	373					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TGGCTTCACTCCCGTATGTTT	0.527																																						ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(1117-1119)gGa>gTa		Kruppel-like factor 12							164.0	128.0	140.0					13																	74269718		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74269718C>A	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.1118G>T	13.37:g.74269718C>A	ENSP00000366897:p.Gly373Val					KLF12_ENST00000377666.4_Missense_Mutation_p.G373V	p.G373V	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	7	1144	-		Prostate(6;0.00217)|Breast(118;0.0838)	373					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.1118G>T	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261900	0.80358	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.23552	1.9;1.9	6.03	6.03	0.97812	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60662	-0.7219	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	373	Q9Y4X4	KLF12_HUMAN	V	373	ENSP00000366897:G373V;ENSP00000366894:G373V	ENSP00000344057:G373V	G	-	2	0	KLF12	73167719	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GGA		0.527	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		30	66	1	0	1.16021e-09	1	1.27791e-09	30	66				
MKI67	4288	broad.mit.edu	37	10	129906979	129906979	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr10:129906979C>T	ENST00000368654.3	-	13	3500	c.3125G>A	c.(3124-3126)gGc>gAc	p.G1042D	MKI67_ENST00000368653.3_Missense_Mutation_p.G682D|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1042	16 X 122 AA approximate repeats.		G -> S (in dbSNP:rs2152143).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGTGAACTTGCCGACTGCTAG	0.507																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3124-3126)gGc>gAc		marker of proliferation Ki-67							381.0	360.0	367.0					10																	129906979		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906979C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3125G>A	10.37:g.129906979C>T	ENSP00000357643:p.Gly1042Asp					MKI67_ENST00000368653.3_Missense_Mutation_p.G682D	p.G1042D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3500	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1042		G -> S (in dbSNP:rs2152143).	16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3125G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899375	0.33535	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02197	4.4;4.4	2.17	1.19	0.21007	.	.	.	.	.	T	0.04363	0.0120	L	0.53249	1.67	0.09310	N	1	P;P;D	0.58268	0.936;0.892;0.982	B;P;P	0.57204	0.373;0.492;0.815	T	0.35919	-0.9769	9	0.12430	T	0.62	.	3.2891	0.06943	0.0:0.519:0.308:0.173	.	1041;682;1042	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	D	1042;682;1041	ENSP00000357643:G1042D;ENSP00000357642:G682D	ENSP00000357642:G682D	G	-	2	0	MKI67	129796969	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.053000	0.03500	0.453000	0.26858	0.561000	0.74099	GGC		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		6	724	0	0	0	1	0	6	724				
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318					ENST00000535591.1																			3	Substitution - coding silent(3)	p.L274L(3)	kidney(2)|endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(820-822)ctC>ctA		PRAME family member 11							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1017	-			274						Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		7	262	1	0	5.18039e-06	1	5.46819e-06	7	262				
STAC	6769	broad.mit.edu	37	3	36484942	36484942	+	Silent	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:36484942C>T	ENST00000273183.3	+	2	498	c.198C>T	c.(196-198)agC>agT	p.S66S	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Silent_p.S66S	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	66					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GAACCAACAGCGAAGACATGA	0.527																																						ENST00000273183.3																			0				endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(196-198)agC>agT		SH3 and cysteine rich domain							98.0	79.0	86.0					3																	36484942		2203	4300	6503	SO:0001819	synonymous_variant	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36484942C>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.198C>T	3.37:g.36484942C>T						STAC_ENST00000457375.2_Silent_p.S66S|STAC_ENST00000476388.1_3'UTR	p.S66S	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			2	498	+			66					B2R8S8	Silent	SNP	ENST00000273183.3	37	c.198C>T	CCDS2662.1																																																																																				0.527	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		45	69	0	0	0	1	0	45	69				
ACSS2	55902	broad.mit.edu	37	20	33514747	33514747	+	Silent	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr20:33514747C>T	ENST00000360596.2	+	17	2182	c.1971C>T	c.(1969-1971)acC>acT	p.T657T	ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000336325.4_Silent_p.T607T|ACSS2_ENST00000253382.5_Silent_p.T670T	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	657					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCCTAAAACCCGCTCAGGTA	0.532																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(1969-1971)acC>acT		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						115.0	107.0	110.0					20																	33514747		2203	4300	6503	SO:0001819	synonymous_variant	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33514747C>T	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1971C>T	20.37:g.33514747C>T						ACSS2_ENST00000336325.4_Silent_p.T607T|ACSS2_ENST00000253382.5_Silent_p.T670T|ACSS2_ENST00000476922.1_3'UTR	p.T657T	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			17	2182	+			657					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Silent	SNP	ENST00000360596.2	37	c.1971C>T	CCDS13243.1																																																																																				0.532	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		27	32	0	0	0	1	0	27	32				
MAML3	55534	broad.mit.edu	37	4	140811117	140811117	+	Silent	SNP	C	C	T	rs62344938		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1471-1473)caG>caA		mastermind-like 3 (Drosophila)							16.0	20.0	18.0					4																	140811117		2191	4287	6478	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811117C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1473G>A	4.37:g.140811117C>T						MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	p.Q491Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2329	-	all_hematologic(180;0.162)		491			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1473G>A	CCDS54805.1																																																																																				0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	67	0	0	0	1	0	4	67				
LRIF1	55791	broad.mit.edu	37	1	111494145	111494145	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:111494145G>T	ENST00000369763.4	-	2	1751	c.1361C>A	c.(1360-1362)aCc>aAc	p.T454N	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TGGATTTGTGGTAGAAGGAGA	0.393																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1360-1362)aCc>aAc		ligand dependent nuclear receptor interacting factor 1							190.0	189.0	189.0					1																	111494145		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494145G>T	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1361C>A	1.37:g.111494145G>T	ENSP00000358778:p.Thr454Asn					LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	p.T454N	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1751	-			454					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.1361C>A	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440098	0.25900	.	.	ENSG00000121931	ENST00000369763	T	0.42513	0.97	5.83	3.95	0.45737	.	0.780131	0.12111	N	0.498507	T	0.23014	0.0556	L	0.46157	1.445	0.80722	D	1	P	0.36837	0.571	B	0.40228	0.323	T	0.04373	-1.0956	10	0.41790	T	0.15	11.203	8.2641	0.31804	0.1841:0.0:0.8159:0.0	.	454	Q5T3J3	LRIF1_HUMAN	N	454	ENSP00000358778:T454N	ENSP00000358778:T454N	T	-	2	0	LRIF1	111295668	0.744000	0.28250	0.997000	0.53966	0.997000	0.91878	0.591000	0.23969	0.792000	0.33850	0.591000	0.81541	ACC		0.393	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		63	139	1	0	1.63498e-16	1	1.85461e-16	63	139				
ACCSL	390110	broad.mit.edu	37	11	44076793	44076793	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr11:44076793C>A	ENST00000378832.1	+	9	1147	c.1091C>A	c.(1090-1092)tCt>tAt	p.S364Y		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	364					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TACATGCTGTCTGTGTTTGAT	0.393																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(1090-1092)tCt>tAt		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							117.0	109.0	112.0					11																	44076793		1931	4146	6077	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44076793C>A		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1091C>A	11.37:g.44076793C>A	ENSP00000368109:p.Ser364Tyr						p.S364Y	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			9	1147	+			364						Missense_Mutation	SNP	ENST00000378832.1	37	c.1091C>A	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973971	0.74246	.	.	ENSG00000205126	ENST00000378832	D	0.90385	-2.66	4.14	4.14	0.48551	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.204109	0.43747	D	0.000539	D	0.95611	0.8573	M	0.89095	3.005	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.96282	0.9207	10	0.87932	D	0	-4.672	14.3224	0.66496	0.0:1.0:0.0:0.0	.	364	Q4AC99	1A1L2_HUMAN	Y	364	ENSP00000368109:S364Y	ENSP00000368109:S364Y	S	+	2	0	ACCSL	44033369	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	6.441000	0.73439	2.291000	0.77112	0.655000	0.94253	TCT		0.393	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		21	51	1	0	1.9806e-07	1	2.15036e-07	21	51				
PCDHA9	9752	broad.mit.edu	37	5	140242899	140242899	+	Intron	SNP	T	T	C			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr5:140242899T>C	ENST00000532602.1	+	1	3427				PCDHA6_ENST00000527624.1_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|AC005609.1_ENST00000502505.1_Missense_Mutation_p.D26G|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGTGGTGTCCAGCCTGTT	0.642																																					Melanoma(55;1800 1972 14909)	ENST00000502505.1																			0											c.(76-78)gAc>gGc																																						SO:0001627	intron_variant	0							g.chr5:140242899T>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+12425T>C	5.37:g.140242899T>C						PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.D26G							1	325	-								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.77A>G	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.308244	0.23821	.	.	ENSG00000249034	ENST00000502505	.	.	.	3.67	3.67	0.42095	.	.	.	.	.	T	0.69628	0.3132	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.71371	-0.4613	7	0.87932	D	0	.	5.9152	0.19052	0.0:0.0932:0.1682:0.7386	.	26	Q8NB83	.	G	26	.	ENSP00000424817:D26G	D	-	2	0	AC005609.17	140223083	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	1.158000	0.31737	1.537000	0.49254	0.260000	0.18958	GAC		0.642	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		31	78	0	0	0	1	0	31	78				
ATG3	64422	broad.mit.edu	37	3	112255367	112255367	+	Missense_Mutation	SNP	T	T	C	rs79676996		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:112255367T>C	ENST00000283290.5	-	10	1183	c.749A>G	c.(748-750)cAc>cGc	p.H250R	ATG3_ENST00000402314.2_Missense_Mutation_p.H250R|ATG3_ENST00000495756.1_5'UTR	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	250					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CAGATGAGGGTGATTTTCAAT	0.388																																						ENST00000402314.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						c.(748-750)cAc>cGc		autophagy related 3							249.0	215.0	227.0					3																	112255367		2203	4300	6503	SO:0001583	missense	64422				autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding	g.chr3:112255367T>C		CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"""APG3 autophagy 3-like (S. cerevisiae)"", ""ATG3 autophagy related 3 homolog (S. cerevisiae)"""	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.749A>G	3.37:g.112255367T>C	ENSP00000283290:p.His250Arg					ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000283290.5_Missense_Mutation_p.H250R	p.H250R			Q9NT62	ATG3_HUMAN			10	1136	-			250					Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	c.749A>G	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.559500	0.86335	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.63	5.63	0.86233	Autophagy-related protein 3 (1);	0.045505	0.85682	D	0.000000	D	0.86777	0.6014	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90419	0.4415	9	0.72032	D	0.01	-26.1202	15.8411	0.78845	0.0:0.0:0.0:1.0	.	250;250	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	R	250	.	ENSP00000283290:H250R	H	-	2	0	ATG3	113738057	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.597000	0.82733	2.147000	0.66899	0.459000	0.35465	CAC		0.388	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488		31	66	0	0	0	1	0	31	66				
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	byFrequency	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AATTTGTCAACATTCGTGACA	0.418																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698262C>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698262C>G								NR_003264.2						0	1610	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.418	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	95	0	0	0	1	0	5	95				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	57	0	0	0	1	0	3	57				
ABCA9	10350	broad.mit.edu	37	17	67040650	67040650	+	Silent	SNP	A	A	C			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr17:67040650A>C	ENST00000340001.4	-	5	772	c.561T>G	c.(559-561)gcT>gcG	p.A187A	ABCA9_ENST00000453985.2_Silent_p.A187A|ABCA9_ENST00000370732.2_Silent_p.A187A|ABCA9_ENST00000495634.1_Silent_p.A187A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	187					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)					CTATGATAGCAGCATTAATGG	0.353																																						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.(559-561)gcT>gcG		ATP-binding cassette, sub-family A (ABC1), member 9							100.0	98.0	99.0					17																	67040650		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67040650A>C	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.561T>G	17.37:g.67040650A>C						ABCA9_ENST00000495634.1_Silent_p.A187A|ABCA9_ENST00000453985.2_Silent_p.A187A|ABCA9_ENST00000370732.2_Silent_p.A187A	p.A187A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			5	772	-	Breast(10;1.47e-12)		187					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.561T>G	CCDS11681.1																																																																																				0.353	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		16	46	0	0	0	1	0	16	46				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		9	64	0	0	0	1	0	9	64				
CLEC4A	50856	broad.mit.edu	37	12	8289395	8289395	+	Silent	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr12:8289395C>T	ENST00000229332.5	+	5	709	c.462C>T	c.(460-462)ttC>ttT	p.F154F	CLEC4A_ENST00000360500.3_Silent_p.F115F|CLEC4A_ENST00000352620.3_Silent_p.F121F|CLEC4A_ENST00000345999.3_Silent_p.F82F	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	154	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		ATTTCATCTTCCAGAATCTGC	0.413																																						ENST00000229332.5																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(460-462)ttC>ttT		C-type lectin domain family 4, member A							76.0	80.0	79.0					12																	8289395		2203	4300	6503	SO:0001819	synonymous_variant	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8289395C>T	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.462C>T	12.37:g.8289395C>T						CLEC4A_ENST00000360500.3_Silent_p.F115F|CLEC4A_ENST00000352620.3_Silent_p.F121F|CLEC4A_ENST00000345999.3_Silent_p.F82F	p.F154F	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	5	709	+			154			C-type lectin.		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Silent	SNP	ENST00000229332.5	37	c.462C>T	CCDS8590.1	.	.	.	.	.	.	.	.	.	.	C	4.329	0.060348	0.08339	.	.	ENSG00000111729	ENST00000546339	T	0.54866	0.55	3.89	1.04	0.20106	.	.	.	.	.	T	0.46151	0.1378	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45775	-0.9238	6	0.87932	D	0	.	3.3853	0.07269	0.2018:0.5796:0.0:0.2185	.	.	.	.	S	60	ENSP00000443082:P60S	ENSP00000443082:P60S	P	+	1	0	CLEC4A	8180662	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.138000	0.10374	0.218000	0.20820	-0.188000	0.12872	CCA		0.413	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		35	51	0	0	0	1	0	35	51				
ITCH	83737	broad.mit.edu	37	20	33033194	33033194	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr20:33033194T>G	ENST00000262650.6	+	12	1327	c.1191T>G	c.(1189-1191)taT>taG	p.Y397*	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Nonsense_Mutation_p.Y246*|ITCH_ENST00000374864.4_Nonsense_Mutation_p.Y356*			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	397	Required for interaction with FYN.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TCCGGAACTATGAACAATGGC	0.458																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1066-1068)taT>taG		itchy E3 ubiquitin protein ligase							127.0	110.0	116.0					20																	33033194		2203	4300	6503	SO:0001587	stop_gained	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33033194T>G	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1191T>G	20.37:g.33033194T>G	ENSP00000262650:p.Tyr397*					ITCH_ENST00000262650.6_Nonsense_Mutation_p.Y397*|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Nonsense_Mutation_p.Y246*	p.Y356*	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			11	1281	+			397			WW 1.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Nonsense_Mutation	SNP	ENST00000262650.6	37	c.1068T>G	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	T	40	8.194026	0.98699	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	.	.	.	4.9	3.8	0.43715	.	0.131674	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0923	0.42453	0.0:0.0798:0.0:0.9202	.	.	.	.	X	356;246;397	.	ENSP00000262650:Y397X	Y	+	3	2	ITCH	32496855	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.492000	0.22435	0.893000	0.36288	0.519000	0.50382	TAT		0.458	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			49	48	0	0	0	1	0	49	48				
SPATA13	221178	broad.mit.edu	37	13	24852919	24852919	+	Intron	SNP	A	A	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr13:24852919A>T	ENST00000382095.4	+	4	696				SPATA13_ENST00000424834.2_Intron|SPATA13_ENST00000382108.3_Intron|SPATA13_ENST00000409126.1_Intron|SPATA13_ENST00000399949.2_Intron|SPATA13_ENST00000343003.6_Missense_Mutation_p.K27N|RP11-307N16.6_ENST00000382141.4_Intron	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		AAAAAGAAAAATATAGAAAAG	0.363																																						ENST00000343003.6																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(79-81)aaA>aaT		spermatogenesis associated 13							32.0	30.0	31.0					13																	24852919		876	1991	2867	SO:0001627	intron_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24852919A>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.290-5354A>T	13.37:g.24852919A>T						SPATA13_ENST00000382108.3_Intron|SPATA13_ENST00000409126.1_Intron|SPATA13_ENST00000382095.4_Intron|SPATA13_ENST00000399949.2_Intron|SPATA13_ENST00000424834.2_Intron	p.K27N			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	2	296	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	0					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.81A>T	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	A	8.023	0.760084	0.15846	.	.	ENSG00000182957	ENST00000343003;ENST00000454083	T;T	0.74315	-0.71;-0.83	0.916	-1.83	0.07833	.	.	.	.	.	T	0.50137	0.1598	.	.	.	0.09310	N	1	B	0.30361	0.277	B	0.17979	0.02	T	0.21724	-1.0237	7	.	.	.	.	3.8672	0.09021	0.3962:0.0:0.0:0.6038	.	27	Q96N96-3	.	N	27	ENSP00000343631:K27N;ENSP00000397498:K27N	.	K	+	3	2	SPATA13	23750919	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.311000	0.02723	-0.903000	0.03881	0.260000	0.18958	AAA		0.363	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		14	15	0	0	0	1	0	14	15				
LRCH1	23143	broad.mit.edu	37	13	47266692	47266692	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr13:47266692A>G	ENST00000389798.3	+	8	1233	c.1036A>G	c.(1036-1038)Agc>Ggc	p.S346G	LRCH1_ENST00000389797.3_Missense_Mutation_p.S346G|LRCH1_ENST00000311191.6_Missense_Mutation_p.S346G	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	346										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGACACTGTTAGCCTCAATGT	0.393																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1036-1038)Agc>Ggc		leucine-rich repeats and calponin homology (CH) domain containing 1							174.0	141.0	152.0					13																	47266692		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47266692A>G	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1036A>G	13.37:g.47266692A>G	ENSP00000374448:p.Ser346Gly					LRCH1_ENST00000389797.3_Missense_Mutation_p.S346G|LRCH1_ENST00000389798.3_Missense_Mutation_p.S346G	p.S346G	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	8	1265	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	346					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.1036A>G	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433844	0.83776	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797;ENST00000463929	T;T;T	0.57107	0.44;0.49;0.42	5.83	5.83	0.93111	.	0.097898	0.64402	D	0.000001	T	0.75140	0.3809	M	0.85373	2.75	0.58432	D	0.999998	D;D;D;D	0.76494	0.992;0.998;0.996;0.999	P;D;P;D	0.79784	0.749;0.948;0.872;0.993	T	0.78122	-0.2327	10	0.51188	T	0.08	-10.3454	15.3939	0.74774	1.0:0.0:0.0:0.0	.	346;346;346;346	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	G	346;346;346;92	ENSP00000308493:S346G;ENSP00000374448:S346G;ENSP00000374447:S346G	ENSP00000308493:S346G	S	+	1	0	LRCH1	46164693	1.000000	0.71417	0.996000	0.52242	0.812000	0.45895	7.504000	0.81646	2.236000	0.73375	0.533000	0.62120	AGC		0.393	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		47	119	0	0	0	1	0	47	119				
WISP1	8840	broad.mit.edu	37	8	134232956	134232956	+	Missense_Mutation	SNP	G	G	A	rs140648348	byFrequency	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:134232956G>A	ENST00000250160.6	+	3	588	c.482G>A	c.(481-483)cGc>cAc	p.R161H	WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	161	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTCCGAGTGCGCCCCCCGCGT	0.657													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16969	0.0		0.0	False		,,,				2504	0.0					ENST00000250160.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(481-483)cGc>cAc		WNT1 inducible signaling pathway protein 1		G	,,HIS/ARG,	6,4400	11.4+/-27.6	0,6,2197	59.0	54.0	56.0		,,482,	4.8	0.6	8	dbSNP_134	56	0,8598		0,0,4299	yes	intron,intron,missense,intron	WISP1	NM_001204869.1,NM_001204870.1,NM_003882.3,NM_080838.2	,,29,	0,6,6496	AA,AG,GG		0.0,0.1362,0.0461	,,probably-damaging,	,,161/368,	134232956	6,12998	2203	4299	6502	SO:0001583	missense	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134232956G>A	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.482G>A	8.37:g.134232956G>A	ENSP00000250160:p.Arg161His					WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron	p.R161H	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	588	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		161			VWFC.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.482G>A	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982919	0.53827	0.001362	0.0	ENSG00000104415	ENST00000250160	T	0.79653	-1.29	4.76	4.76	0.60689	von Willebrand factor, type C (4);	0.325219	0.33438	N	0.004913	D	0.87799	0.6268	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	P	0.60173	0.87	D	0.89107	0.3493	10	0.56958	D	0.05	-36.5518	16.7282	0.85428	0.0:0.0:1.0:0.0	.	161	O95388	WISP1_HUMAN	H	161	ENSP00000250160:R161H	ENSP00000250160:R161H	R	+	2	0	WISP1	134302138	0.994000	0.37717	0.610000	0.28997	0.206000	0.24218	4.073000	0.57570	2.193000	0.70182	0.557000	0.71058	CGC		0.657	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		10	127	0	0	0	1	0	10	127				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	29	0	0	0	1	0	3	29				
SLC38A3	10991	broad.mit.edu	37	3	50251640	50251640	+	RNA	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:50251640C>T	ENST00000420502.1	+	0	162									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		GCCATGGAGGCGCCTTTGCAG	0.607																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						40.0	42.0	42.0					3																	50251640		2137	4245	6382			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50251640C>T	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50251640C>T										Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	162	+									RNA	SNP	ENST00000420502.1	37																																																																																						0.607	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		6	25	0	0	0	1	0	6	25				
GOLGB1	2804	broad.mit.edu	37	3	121416568	121416568	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:121416568C>A	ENST00000340645.5	-	13	2912	c.2787G>T	c.(2785-2787)aaG>aaT	p.K929N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.K934N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	929					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTTAAGAGTCTTAATTTCAA	0.358																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(2800-2802)aaG>aaT		golgin B1							98.0	107.0	104.0					3																	121416568		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121416568C>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2787G>T	3.37:g.121416568C>A	ENSP00000341848:p.Lys929Asn					GOLGB1_ENST00000340645.5_Missense_Mutation_p.K929N	p.K934N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2912	-			929					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.2802G>T	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.44|10.44	1.350123|1.350123	0.24512|0.24512	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.25579|.	2.38;2.38;1.79|.	5.35|5.35	1.37|1.37	0.22104|0.22104	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.58708|0.58708	0.2141|0.2141	M|M	0.64997|0.64997	1.995|1.995	0.36537|0.36537	D|D	0.871085|0.871085	P;P;D;D;P|.	0.89917|.	0.95;0.936;1.0;1.0;0.919|.	P;P;D;D;P|.	0.85130|.	0.851;0.725;0.997;0.996;0.607|.	T|T	0.59857|0.59857	-0.7375|-0.7375	10|5	0.42905|.	T|.	0.14|.	.|.	6.5644|6.5644	0.22503|0.22503	0.0:0.523:0.0:0.477|0.0:0.523:0.0:0.477	.|.	854;893;934;934;929|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	N|I	929;934;893;741|800	ENSP00000341848:K929N;ENSP00000377275:K934N;ENSP00000418231:K893N|.	ENSP00000341848:K929N|.	K|R	-|-	3|2	2|0	GOLGB1|GOLGB1	122899258|122899258	0.008000|0.008000	0.16893|0.16893	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	-0.020000|-0.020000	0.12525|0.12525	0.413000|0.413000	0.25759|0.25759	-0.140000|-0.140000	0.14226|0.14226	AAG|AGA		0.358	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		56	179	1	0	3.76997e-23	1	4.34117e-23	56	179				
CACNA2D4	93589	broad.mit.edu	37	12	1988172	1988172	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr12:1988172C>T	ENST00000382722.5	-	15	1956	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G468S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G532S|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.G417S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G532S|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G468S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	532	Cache.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACATCTGAGCCCACCACACCC	0.602																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1594-1596)Ggc>Agc		calcium channel, voltage-dependent, alpha 2/delta subunit 4							43.0	49.0	47.0					12																	1988172		2025	4181	6206	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1988172C>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1594G>A	12.37:g.1988172C>T	ENSP00000372169:p.Gly532Ser					CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G468S|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.G417S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G532S|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G468S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G532S	p.G532S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	15	1956	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	532			Cache.		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.1594G>A	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546179	0.96488	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.25579	1.79	5.08	5.08	0.68730	Cache (1);	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.993;1.0	T	0.60692	-0.7213	10	0.87932	D	0	.	18.4788	0.90804	0.0:1.0:0.0:0.0	.	532;532	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	S	468;532;532	ENSP00000372169:G532S	ENSP00000280663:G532S	G	-	1	0	CACNA2D4	1858433	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.818000	0.86416	2.364000	0.80123	0.655000	0.94253	GGC		0.602	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			20	44	0	0	0	1	0	20	44				
NAV3	89795	broad.mit.edu	37	12	78362364	78362364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr12:78362364C>T	ENST00000397909.2	+	5	726	c.553C>T	c.(553-555)Caa>Taa	p.Q185*	NAV3_ENST00000228327.6_Nonsense_Mutation_p.Q185*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.Q185*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Q185*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	185						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTACAAGCAGCAACAACACCA	0.413										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(553-555)Caa>Taa		neuron navigator 3							82.0	87.0	85.0					12																	78362364		1976	4157	6133	SO:0001587	stop_gained	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78362364C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.553C>T	12.37:g.78362364C>T	ENSP00000381007:p.Gln185*	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Nonsense_Mutation_p.Q185*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.Q185*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Q185*	p.Q185*			Q8IVL0	NAV3_HUMAN			5	726	+			185					Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37	c.553C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.036395|8.036395	0.98621|0.98621	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000550503|ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.36303	.|U	.|0.002670	T|.	0.73659|.	0.3615|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69331|.	-0.5173|.	4|.	.|0.32370	.|T	.|0.25	-12.0072|-12.0072	19.5947|19.5947	0.95530|0.95530	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	31|185	.|.	.|ENSP00000228327:Q185X	A|Q	+|+	2|1	0|0	NAV3|NAV3	76886495|76886495	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.279000|7.279000	0.78599|0.78599	2.636000|2.636000	0.89361|0.89361	0.632000|0.632000	0.83419|0.83419	GCA|CAA		0.413	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		35	89	0	0	0	1	0	35	89				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	lincRNA	DEL	CCA	CCA	-	rs28552466|rs61625886|rs374710813	byFrequency	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:121137791_121137793delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ATTTCGCCCTCCACCGCCGCCGC	0.631																																						ENST00000437515.1																			0																																																			0							g.chr1:121137791_121137793delCCA																													1.37:g.121137791_121137793delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.631	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			7	19						7	19	---	---	---	---
NBPF20	100288142	broad.mit.edu	37	1	148262295	148262297	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:148262295_148262297delTTC	ENST00000369202.1	-	98	12316_12318	c.12119_12121delGAA	c.(12118-12123)agaaaa>aaa	p.R4040del				Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	605						cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						tccccttcttttcttccccttct	0.438																																						ENST00000369202.1																			0				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						c.(12118-12123)aaa>a		neuroblastoma breakpoint family, member 20																																				SO:0001651	inframe_deletion	100288142							g.chr1:148262295_148262297delTTC		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.12119_12121delGAA	1.37:g.148262298_148262300delTTC	ENSP00000358203:p.Arg4040del						p.RK4040del							98	12316_12318	-									In_Frame_Del	DEL	ENST00000369202.1	37	c.12119_12121delGAA																																																																																					0.438	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2			8	218						8	218	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)del		inositol 1,4,5-trisphosphate receptor interacting protein-like 1																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	p.E155del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		7	103						7	103	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			5	8						5	8	---	---	---	---
CXXC4	80319	broad.mit.edu	37	4	105412465	105412467	+	5'UTR	DEL	GCC	GCC	-			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr4:105412465_105412467delGCC	ENST00000426831.1	-	0	0_2				AC093628.1_ENST00000606234.1_RNA|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000394767.2_In_Frame_Del_p.G165del			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4						negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGGTCCTgctgccgccgccgccg	0.695																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(493-495)del		CXXC finger protein 4																																				SO:0001623	5_prime_UTR_variant	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412465_105412467delGCC		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.-15GGC>-	4.37:g.105412474_105412476delGCC						CXXC4_ENST00000426831.1_5'UTR|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron	p.G165del	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	943_945	-			0			Interaction with DVL1 (By similarity).			In_Frame_Del	DEL	ENST00000426831.1	37	c.493_495delGGC																																																																																					0.695	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		8	149						8	149	---	---	---	---
LOC153910	153910	broad.mit.edu	37	6	142860298	142860299	+	lincRNA	INS	-	-	T	rs143051118	byFrequency	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr6:142860298_142860299insT	ENST00000447311.1	-	0	364					NR_027312.1																						ttaggccagtatttttttttta	0.47													|||unknown(HR)	546	0.109026	0.0416	0.1369	5008	,	,		19829	0.2173		0.1064	False		,,,				2504	0.0716					ENST00000447311.1																			0																																																			0							g.chr6:142860298_142860299insT																													6.37:g.142860308_142860308dupT								NR_027312.1						0	364	-									RNA	INS	ENST00000447311.1	37																																																																																						0.470	RP11-440G9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000042494.1			5	7						5	7	---	---	---	---
TRBV6-5	28602	broad.mit.edu	37	7	142180819	142180821	+	RNA	DEL	AGG	AGG	-	rs369065333|rs146925843|rs377067235		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr7:142180819_142180821delAGG	ENST00000390368.2	-	0	115									T cell receptor beta variable 6-5																		CCTGCAGAGAAGGAGAACAAAGC	0.557																																						ENST00000390368.2																			0																																																			0							g.chr7:142180819_142180821delAGG	L36092		7q34	2012-02-07			ENSG00000211721	ENSG00000211721		"""T cell receptors / TRB locus"""	12230	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV65, TCRBV13S1, TCRBV6S5			OTTHUMG00000158519		7.37:g.142180819_142180821delAGG														0	115	-									RNA	DEL	ENST00000390368.2	37																																																																																						0.557	TRBV6-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351225.1	NG_001333		7	178						7	178	---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457|rs368917144	byFrequency	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gctgcc>gcc	p.339_340AA>A	ZNF395_ENST00000523095.1_In_Frame_Del_p.339_340AA>A|ZNF395_ENST00000523202.1_In_Frame_Del_p.339_340AA>A	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1015-1020)gcc>gc		zinc finger protein 395				554,80,3604		203,0,148,2,76,1690						-6.6	0.0			63	1049,5,7094		390,0,269,0,5,3410	no	codingComplex	ZNF395	NM_018660.2		593,0,417,2,81,5100	A1A1,A1A2,A1R,A2A2,A2R,RR		12.9357,14.9599,13.6283				1603,85,10698				SO:0001651	inframe_deletion	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28209226_28209228delGCA	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1017_1019delTGC	8.37:g.28209235_28209237delGCA	ENSP00000340494:p.Ala341del					ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del	p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	7	1148_1150	-		Ovarian(32;2.06e-05)	339					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	In_Frame_Del	DEL	ENST00000344423.5	37	c.1017_1019delTGC	CCDS6067.1																																																																																				0.606	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			8	226						8	226	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179.0	176.0	177.0					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	544						7	544	---	---	---	---
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-	rs374165893|rs371732185		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_ENST00000374165.1_In_Frame_Del_p.Q304del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(886-891)cgg>cg		chromosome 9 open reading frame 43				2,231,68,3961		0,0,0,2,0,0,231,2,64,1832						-2.8	0.0			63	18,338,431,7463		2,0,0,14,0,0,338,9,413,3349	no	codingComplex	C9orf43	NM_152786.1		2,0,0,16,0,0,569,11,477,5181	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		9.5394,7.0624,8.6957				20,569,499,11424				SO:0001651	inframe_deletion	257169							g.chr9:116187646_116187648delGCA	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.888_890delGCA	9.37:g.116187655_116187657delGCA	ENSP00000288462:p.Gln304del					C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			10	1334_1336	+			296			Gln-rich.			In_Frame_Del	DEL	ENST00000288462.4	37	c.888_890delGCA	CCDS6796.1																																																																																				0.557	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		7	119						7	119	---	---	---	---
PRDM12	59335	broad.mit.edu	37	9	133543701	133543702	+	Splice_Site	DEL	GT	GT	-	rs138789124		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr9:133543701_133543702delGT	ENST00000253008.2	+	3	630		c.e3+1			NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12						neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCCATTGAGGTGTGTGTGTGT	0.594																																						ENST00000253008.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.e3+1		PR domain containing 12																																				SO:0001630	splice_region_variant	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133543701_133543702delGT	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.570+1GT>-	9.37:g.133543711_133543712delGT								NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	3	630	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)						A3KFK9	Splice_Site	DEL	ENST00000253008.2	37		CCDS6934.1																																																																																				0.594	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619	Intron	11	115						11	115	---	---	---	---
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000445575.2_Intron	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(1180-1182)del		fuzzy planar cell polarity protein																																				SO:0001651	inframe_deletion	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50310483_50310485delCAG	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1180_1182delCTG	19.37:g.50310492_50310494delCAG	ENSP00000313309:p.Leu394del					FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000445575.2_Intron	p.L394del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	11	1343_1345	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	394			Leu-rich.		B2RD86|B5MDH0|Q6PJY0|Q9H613	In_Frame_Del	DEL	ENST00000313777.4	37	c.1180_1182delCTG	CCDS12781.1																																																																																				0.635	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		8	104						8	104	---	---	---	---
TRIM28	10155	broad.mit.edu	37	19	59059081	59059082	+	Splice_Site	INS	-	-	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr19:59059081_59059082insT	ENST00000253024.5	+	5	1128		c.e5+1		TRIM28_ENST00000341753.6_Splice_Site	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28						convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTCGCAGCTCGTAAGTGTGGGT	0.594																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.e5+1		tripartite motif containing 28																																				SO:0001630	splice_region_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59059081_59059082insT		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.839+1->T	19.37:g.59059082_59059082dupT						TRIM28_ENST00000341753.6_Splice_Site		NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	5	1128	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)						O00677|Q7Z632|Q93040|Q96IM1	Splice_Site	INS	ENST00000253024.5	37		CCDS12985.1																																																																																				0.594	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762	Intron	54	121						54	121	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	lincRNA	INS	-	-	CTG	rs34452519|rs145731851	byFrequency	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563									transmembrane phosphatase with tensin homology pseudogene 1																		TGCCCACTCTTCTGGTCTCATG	0.54														912	0.182109	0.0265	0.0865	5008	,	,		18499	0.2569		0.2256	False		,,,				2504	0.3384					ENST00000426585.1																			0																																																			0							g.chr22:17131536_17131537insCTG			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131537_17131539dupCTG														0	2562_2563	+									RNA	INS	ENST00000426585.1	37																																																																																						0.540	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		2	4						2	4	---	---	---	---
