#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
ADH1C	126	broad.mit.edu	37	4	100266127	100266127	+	RNA	SNP	C	C	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:100266127C>G	ENST00000510055.1	-	0	633				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CATTCTCATCCACCACTGTGT	0.577																																						ENST00000510055.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)						96.0	94.0	95.0					4																	100266127		2203	4300	6503			126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100266127C>G	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100266127C>G						ADH1C_ENST00000515683.1_RNA				P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	633	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	SNP	ENST00000510055.1	37																																																																																						0.577	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		6	73	0	0	0	1	0	6	73				
CTR9	9646	broad.mit.edu	37	11	10789666	10789666	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:10789666C>G	ENST00000361367.2	+	15	2344	c.1918C>G	c.(1918-1920)Ctc>Gtc	p.L640V		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	640					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAAACAAGTACTCAGAAATGA	0.363																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(1918-1920)Ctc>Gtc		CTR9, Paf1/RNA polymerase II complex component							99.0	104.0	102.0					11																	10789666		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10789666C>G	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1918C>G	11.37:g.10789666C>G	ENSP00000355013:p.Leu640Val						p.L640V	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	15	2344	+			640					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.1918C>G	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711414	0.89112	.	.	ENSG00000198730	ENST00000361367	T	0.76839	-1.05	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90508	0.7026	M	0.91510	3.215	0.80722	D	1	D	0.71674	0.998	D	0.65010	0.931	D	0.91872	0.5508	10	0.72032	D	0.01	-8.3928	19.8652	0.96802	0.0:1.0:0.0:0.0	.	640	Q6PD62	CTR9_HUMAN	V	640	ENSP00000355013:L640V	ENSP00000355013:L640V	L	+	1	0	CTR9	10746242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.760000	0.85248	2.705000	0.92388	0.591000	0.81541	CTC		0.363	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		31	40	0	0	0	1	0	31	40				
KSR1	8844	broad.mit.edu	37	17	25937180	25937180	+	Silent	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:25937180G>A	ENST00000319524.6	+	18	2379	c.2379G>A	c.(2377-2379)gaG>gaA	p.E793E	KSR1_ENST00000582410.1_Silent_p.E7E|KSR1_ENST00000268763.6_Silent_p.E656E|KSR1_ENST00000398988.3_Silent_p.E656E|KSR1_ENST00000509603.2_Silent_p.E771E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	793	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGAAGGACGAGGATCAGCTGC	0.587											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1966-1968)gaG>gaA		kinase suppressor of ras 1							90.0	95.0	93.0					17																	25937180		2037	4187	6224	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25937180G>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2379G>A	17.37:g.25937180G>A			OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	782	KSR1_ENST00000268763.6_Silent_p.E656E|KSR1_ENST00000319524.6_Silent_p.E793E|KSR1_ENST00000509603.2_Silent_p.E771E|KSR1_ENST00000582410.1_Silent_p.E7E	p.E656E	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	19	2413	+	Lung NSC(42;0.00836)		791			Protein kinase.		F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.1968G>A		.	.	.	.	.	.	.	.	.	.	G	9.280	1.047791	0.19827	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.82	3.51	0.40186	.	.	.	.	.	T	0.55955	0.1953	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52726	-0.8537	4	.	.	.	.	7.0665	0.25156	0.3169:0.0:0.6831:0.0	.	.	.	.	R	507	.	.	G	+	1	0	KSR1	22961307	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	1.834000	0.39171	1.470000	0.48102	0.655000	0.94253	GGA		0.587	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		38	56	0	0	0	1	0	38	56				
PMS2	5395	broad.mit.edu	37	7	6026444	6026444	+	Missense_Mutation	SNP	T	T	C	rs267608167		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr7:6026444T>C	ENST00000265849.7	-	11	2057	c.1952A>G	c.(1951-1953)aAg>aGg	p.K651R	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.K545R|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	651					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGGACAAATCTTTGCCCTAAA	0.328			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1951-1953)aAg>aGg	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							89.0	86.0	87.0					7																	6026444		2203	4300	6503	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6026444T>C		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1952A>G	7.37:g.6026444T>C	ENSP00000265849:p.Lys651Arg					PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.K545R|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000469652.1_Intron	p.K651R	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	11	2057	-		Ovarian(82;0.0694)	651					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1952A>G	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	t	13.77	2.335511	0.41398	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476	T;T	0.40225	1.04;1.04	5.82	0.829	0.18847	.	0.000000	0.85682	D	0.000000	T	0.45756	0.1358	M	0.77103	2.36	0.47476	D	0.999431	B;B	0.33583	0.021;0.418	B;B	0.40982	0.019;0.345	T	0.30909	-0.9962	10	0.35671	T	0.21	-19.6292	9.5139	0.39093	0.0:0.2623:0.0:0.7377	rs63751461	651;545	P54278;C9J167	PMS2_HUMAN;.	R	651;604;545	ENSP00000265849:K651R;ENSP00000392843:K545R	ENSP00000265849:K651R	K	-	2	0	PMS2	5992970	1.000000	0.71417	0.842000	0.33263	0.835000	0.47333	2.986000	0.49370	-0.068000	0.12953	-0.369000	0.07265	AAG		0.328	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		4	96	0	0	0	1	0	4	96				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	47	0	0	0	1	0	3	47				
SHROOM2	357	broad.mit.edu	37	X	9863274	9863274	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:9863274C>A	ENST00000380913.3	+	4	1416	c.1326C>A	c.(1324-1326)agC>agA	p.S442R		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	442					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GTGCTGACAGCCTTGGGCAGG	0.652																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(1324-1326)agC>agA		shroom family member 2							39.0	40.0	40.0					X																	9863274		2203	4300	6503	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9863274C>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1326C>A	X.37:g.9863274C>A	ENSP00000370299:p.Ser442Arg						p.S442R	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			4	1416	+		Hepatocellular(5;0.000888)	442					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.1326C>A	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	9.059	0.994113	0.19043	.	.	ENSG00000146950	ENST00000380913	T	0.17213	2.29	4.17	0.216	0.15258	.	3.703340	0.00465	N	0.000107	T	0.13756	0.0333	L	0.39898	1.24	0.09310	N	0.999999	B	0.31519	0.327	B	0.23275	0.045	T	0.20306	-1.0279	10	0.49607	T	0.09	-1.1231	3.9702	0.09449	0.1708:0.5435:0.0:0.2857	.	442	Q13796	SHRM2_HUMAN	R	442	ENSP00000370299:S442R	ENSP00000370299:S442R	S	+	3	2	SHROOM2	9823274	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.389000	0.07342	0.133000	0.18654	-0.371000	0.07208	AGC		0.652	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		6	90	1	0	0.248553	1	0.248553	6	90				
TRBC2	28638	broad.mit.edu	37	7	142499637	142499637	+	RNA	SNP	T	T	C			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr7:142499637T>C	ENST00000466254.1	+	0	397							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											GACTGTGGCTTCACCTCCGGT	0.493																																						ENST00000466254.1																			0																				492.0	473.0	479.0					7																	142499637		1985	4173	6158			0							g.chr7:142499637T>C	M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142499637T>C														0	397	+									RNA	SNP	ENST00000466254.1	37																																																																																						0.493	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		6	557	0	0	0	1	0	6	557				
BRCA2	675	broad.mit.edu	37	13	32912670	32912670	+	Missense_Mutation	SNP	C	C	T	rs398122776		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr13:32912670C>T	ENST00000380152.3	+	11	4411	c.4178C>T	c.(4177-4179)gCg>gTg	p.A1393V	BRCA2_ENST00000544455.1_Missense_Mutation_p.A1393V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1393	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTGGAAGTTGCGAAAGCTCAA	0.333			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(4177-4179)gCg>gTg	Homologous recombination	breast cancer 2, early onset							64.0	68.0	66.0					13																	32912670		2202	4299	6501	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912670C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4178C>T	13.37:g.32912670C>T	ENSP00000369497:p.Ala1393Val	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.A1393V	p.A1393V	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4405	+		Lung SC(185;0.0262)	1393					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4178C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.587305	0.00872	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00653	5.96;5.96	5.95	5.95	0.96441	.	0.298737	0.28853	N	0.013924	T	0.00328	0.0010	N	0.01352	-0.895	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.42783	-0.9431	10	0.02654	T	1	.	8.8471	0.35177	0.0:0.1446:0.0:0.8554	.	1393	P51587	BRCA2_HUMAN	V	1393	ENSP00000369497:A1393V;ENSP00000439902:A1393V	ENSP00000369497:A1393V	A	+	2	0	BRCA2	31810670	0.887000	0.30362	0.987000	0.45799	0.087000	0.18053	0.809000	0.27168	1.075000	0.40932	-0.360000	0.07572	GCG		0.333	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		25	37	0	0	0	1	0	25	37				
NKD2	85409	broad.mit.edu	37	5	1034967	1034967	+	Missense_Mutation	SNP	G	G	A	rs199906392		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr5:1034967G>A	ENST00000296849.5	+	7	752	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	NKD2_ENST00000274150.4_Missense_Mutation_p.V175I|NKD2_ENST00000382730.2_5'Flank|NKD2_ENST00000537972.1_Missense_Mutation_p.V175I	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	175	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)	p.V175I(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GAAGCTAACCGTCAGCCCTGA	0.617																																						ENST00000296849.5																			1	Substitution - Missense(1)	p.V175I(1)	central_nervous_system(1)	breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(523-525)Gtc>Atc		naked cuticle homolog 2 (Drosophila)		G	ILE/VAL	1,4401	2.1+/-5.4	0,1,2200	63.0	48.0	53.0		523	4.3	1.0	5		53	1,8585	1.2+/-3.3	0,1,4292	yes	missense	NKD2	NM_033120.2	29	0,2,6492	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	175/452	1034967	2,12986	2201	4293	6494	SO:0001583	missense	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1034967G>A	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.523G>A	5.37:g.1034967G>A	ENSP00000296849:p.Val175Ile					NKD2_ENST00000274150.4_Missense_Mutation_p.V175I|NKD2_ENST00000537972.1_Missense_Mutation_p.V175I	p.V175I	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		7	752	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		175			Interaction with DVL1, DVL2 and DVL3 (By similarity).		Q96EK8|Q9BSN0	Missense_Mutation	SNP	ENST00000296849.5	37	c.523G>A	CCDS3859.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332333	0.60853	2.27E-4	1.16E-4	ENSG00000145506	ENST00000296849;ENST00000274150;ENST00000537972	T;T;T	0.72615	0.17;-0.67;-0.67	4.27	4.27	0.50696	.	0.000000	0.64402	D	0.000004	T	0.79707	0.4492	M	0.71581	2.175	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.61070	0.836;0.883	T	0.81722	-0.0803	10	0.59425	D	0.04	-0.2434	12.1862	0.54241	0.0:0.0:1.0:0.0	.	175;175	Q969F2-2;Q969F2	.;NKD2_HUMAN	I	175	ENSP00000296849:V175I;ENSP00000274150:V175I;ENSP00000440925:V175I	ENSP00000274150:V175I	V	+	1	0	NKD2	1087967	1.000000	0.71417	0.995000	0.50966	0.022000	0.10575	5.914000	0.69964	1.922000	0.55676	0.561000	0.74099	GTC		0.617	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		7	24	0	0	0	1	0	7	24				
F9	2158	broad.mit.edu	37	X	138643011	138643011	+	Missense_Mutation	SNP	G	G	A	rs137852247		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:138643011G>A	ENST00000218099.2	+	7	842	c.835G>A	c.(835-837)Gca>Aca	p.A279T	F9_ENST00000394090.2_Missense_Mutation_p.A241T	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	279	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		A -> T (in HEMB; mild). {ECO:0000269|PubMed:2773937, ECO:0000269|PubMed:8076946}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TACAGTTGTCGCAGGTAAATA	0.353																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM940587	F9	M	rs137852247	c.(835-837)Gca>Aca		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						162.0	145.0	151.0					X																	138643011		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643011G>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.835G>A	X.37:g.138643011G>A	ENSP00000218099:p.Ala279Thr					F9_ENST00000394090.2_Missense_Mutation_p.A241T	p.A279T	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			7	842	+	Acute lymphoblastic leukemia(192;0.000127)		279		A -> T (in HEMB; mild).	Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.835G>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264663	0.59431	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.88896	-2.44;-2.44	5.84	5.84	0.93424	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.106822	0.64402	D	0.000005	D	0.92961	0.7760	L	0.60455	1.87	0.47341	D	0.999392	D;D	0.71674	0.998;0.959	D;P	0.68353	0.957;0.633	D	0.93242	0.6627	10	0.62326	D	0.03	.	16.3112	0.82872	0.0:0.0:1.0:0.0	.	241;279	Q5FBE1;P00740	.;FA9_HUMAN	T	279;241	ENSP00000218099:A279T;ENSP00000377650:A241T	ENSP00000218099:A279T	A	+	1	0	F9	138470677	1.000000	0.71417	0.949000	0.38748	0.199000	0.23934	6.978000	0.76147	2.457000	0.83068	0.544000	0.68410	GCA		0.353	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			32	98	0	0	0	1	0	32	98				
MAGEA11	4110	broad.mit.edu	37	X	148797890	148797890	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:148797890G>C	ENST00000355220.5	+	5	846	c.744G>C	c.(742-744)atG>atC	p.M248I	MAGEA11_ENST00000333104.4_Missense_Mutation_p.M219I	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	248	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGGCAGAAATGCTGGGGAGTG	0.413																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(742-744)atG>atC		melanoma antigen family A, 11							109.0	111.0	110.0					X																	148797890		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797890G>C		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.744G>C	X.37:g.148797890G>C	ENSP00000347358:p.Met248Ile					MAGEA11_ENST00000333104.4_Missense_Mutation_p.M219I	p.M248I	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	846	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		248			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.744G>C	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	8.698	0.909106	0.17833	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.04015	3.73;3.73;3.73	0.976	-1.76	0.08006	.	.	.	.	.	T	0.05640	0.0148	L	0.43646	1.37	0.09310	N	1	P;P	0.45634	0.863;0.65	B;P	0.45119	0.434;0.47	T	0.27468	-1.0073	9	0.48119	T	0.1	.	6.1746	0.20437	0.0:0.5924:0.4076:0.0	.	219;248	G5E962;P43364	.;MAGAB_HUMAN	I	219;219;248	ENSP00000391496:M219I;ENSP00000328177:M219I;ENSP00000347358:M248I	ENSP00000328177:M219I	M	+	3	0	MAGEA11	148576515	0.457000	0.25752	0.004000	0.12327	0.091000	0.18340	-0.117000	0.10708	-0.714000	0.04975	0.429000	0.28392	ATG		0.413	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		7	165	0	0	0	1	0	7	165				
RCN3	57333	broad.mit.edu	37	19	50031918	50031918	+	Silent	SNP	A	A	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr19:50031918A>G	ENST00000270645.3	+	2	636	c.189A>G	c.(187-189)gaA>gaG	p.E63E	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	63						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TGGGACGGGAAGTGGCCAAGG	0.637																																						ENST00000270645.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(187-189)gaA>gaG		reticulocalbin 3, EF-hand calcium binding domain							70.0	68.0	68.0					19																	50031918		2203	4300	6503	SO:0001819	synonymous_variant	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50031918A>G	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.189A>G	19.37:g.50031918A>G						RCN3_ENST00000593644.1_3'UTR	p.E63E	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	2	636	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	63					Q9HBZ8	Silent	SNP	ENST00000270645.3	37	c.189A>G	CCDS12771.1																																																																																				0.637	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		39	26	0	0	0	1	0	39	26				
GRIA4	2893	broad.mit.edu	37	11	105845182	105845182	+	Intron	SNP	G	G	C			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:105845182G>C	ENST00000530497.1	+	15	2544				GRIA4_ENST00000525187.1_Missense_Mutation_p.S852T|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000393127.2_Missense_Mutation_p.S852T|GRIA4_ENST00000282499.5_Intron|RNU6-277P_ENST00000516272.1_RNA			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GTGGCAAAGAGTGCACAGACT	0.438																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2554-2556)aGt>aCt		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						140.0	130.0	133.0					11																	105845182		2201	4299	6500	SO:0001627	intron_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105845182G>C	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2544+11G>C	11.37:g.105845182G>C						GRIA4_ENST00000525187.1_Missense_Mutation_p.S852T|GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000282499.5_Intron	p.S852T	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	16	3001	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	852					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2555G>C	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010086	0.35415	.	.	ENSG00000152578	ENST00000393127;ENST00000525187	T;T	0.12255	2.7;2.7	5.83	5.83	0.93111	.	.	.	.	.	T	0.09992	0.0245	N	0.20685	0.6	0.32742	N	0.507561	B	0.32939	0.391	B	0.31946	0.138	T	0.05037	-1.0910	9	0.02654	T	1	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	852	G3V164	.	T	852	ENSP00000376835:S852T;ENSP00000432180:S852T	ENSP00000376835:S852T	S	+	2	0	GRIA4	105350392	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.471000	0.35365	2.756000	0.94617	0.655000	0.94253	AGT		0.438	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			4	79	0	0	0	1	0	4	79				
KLHL41	10324	broad.mit.edu	37	2	170367045	170367045	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr2:170367045A>G	ENST00000284669.1	+	1	834	c.757A>G	c.(757-759)Aaa>Gaa	p.K253E	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	253					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											GAAAAAAATCAAAGTTCTAAA	0.398																																						ENST00000284669.1																			0											c.(757-759)Aaa>Gaa		kelch-like family member 41							73.0	83.0	79.0					2																	170367045		2203	4300	6503	SO:0001583	missense	10324							g.chr2:170367045A>G	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.757A>G	2.37:g.170367045A>G	ENSP00000284669:p.Lys253Glu					BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	p.K253E	NM_006063.2	NP_006054.2					1	834	+								Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.757A>G	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562459	0.45694	.	.	ENSG00000239474	ENST00000284669	T	0.71817	-0.6	5.02	5.02	0.67125	.	0.047096	0.85682	D	0.000000	T	0.58977	0.2160	L	0.36672	1.1	0.49389	D	0.999782	B	0.16396	0.017	B	0.15484	0.013	T	0.54879	-0.8227	10	0.10111	T	0.7	.	15.0427	0.71803	1.0:0.0:0.0:0.0	.	253	O60662	KBTBA_HUMAN	E	253	ENSP00000284669:K253E	ENSP00000284669:K253E	K	+	1	0	KBTBD10	170075291	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.661000	0.61518	2.021000	0.59480	0.383000	0.25322	AAA		0.398	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		5	77	0	0	0	1	0	5	77				
CASZ1	54897	broad.mit.edu	37	1	10710809	10710809	+	Silent	SNP	G	G	A	rs141036792		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:10710809G>A	ENST00000377022.3	-	13	3137	c.2820C>T	c.(2818-2820)aaC>aaT	p.N940N	CASZ1_ENST00000344008.5_Silent_p.N940N|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	940					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CATTTGATTCGTTGCTAGAAC	0.597													g|||	1	0.000199681	0.0	0.0	5008	,	,		12993	0.0		0.001	False		,,,				2504	0.0					ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(2818-2820)aaC>aaT		castor zinc finger 1							109.0	111.0	110.0					1																	10710809		2203	4300	6503	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10710809G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2820C>T	1.37:g.10710809G>A						CASZ1_ENST00000344008.5_Silent_p.N940N|RP4-734G22.3_ENST00000606802.1_RNA	p.N940N	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	13	3137	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	940					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.2820C>T	CCDS41246.1																																																																																				0.597	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		27	80	0	0	0	1	0	27	80				
TMEM104	54868	broad.mit.edu	37	17	72832755	72832755	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:72832755G>A	ENST00000335464.5	+	10	1582	c.1420G>A	c.(1420-1422)Gtg>Atg	p.V474M	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.V474M	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	474						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GGTGGGCTTCGTGCTGCTCTG	0.592																																						ENST00000335464.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19						c.(1420-1422)Gtg>Atg		transmembrane protein 104							62.0	51.0	55.0					17																	72832755		2203	4300	6503	SO:0001583	missense	54868					integral to membrane		g.chr17:72832755G>A	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1420G>A	17.37:g.72832755G>A	ENSP00000334849:p.Val474Met					TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.V474M	p.V474M	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN			10	1582	+	all_lung(278;0.23)		474					Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	c.1420G>A	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710620	0.89112	.	.	ENSG00000109066	ENST00000335464	T	0.41065	1.01	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71652	-0.4528	10	0.59425	D	0.04	-20.3574	19.021	0.92916	0.0:0.0:1.0:0.0	.	474	Q8NE00	TM104_HUMAN	M	474	ENSP00000334849:V474M	ENSP00000334849:V474M	V	+	1	0	TMEM104	70344350	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.420000	0.97426	2.584000	0.87258	0.462000	0.41574	GTG		0.592	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		29	32	0	0	0	1	0	29	32				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	6	51	0	0	0	1	0	6	51				
ST14	6768	broad.mit.edu	37	11	130079712	130079712	+	Silent	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:130079712G>A	ENST00000278742.5	+	19	2980	c.2562G>A	c.(2560-2562)ggG>ggA	p.G854G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	854	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGAACACTGGGGTATAGGGGC	0.637																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(2560-2562)ggG>ggA		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						69.0	77.0	74.0					11																	130079712		2201	4297	6498	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130079712G>A	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2562G>A	11.37:g.130079712G>A							p.G854G	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	19	2980	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	854			Peptidase S1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.2562G>A	CCDS8487.1																																																																																				0.637	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			5	108	0	0	0	1	0	5	108				
POMT2	29954	broad.mit.edu	37	14	77765887	77765887	+	Silent	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr14:77765887G>A	ENST00000261534.4	-	7	1036	c.834C>T	c.(832-834)caC>caT	p.H278H		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	278						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GAGCAGTCAGGTGTTTTCCCA	0.498																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(832-834)caC>caT		protein-O-mannosyltransferase 2							126.0	102.0	110.0					14																	77765887		2203	4300	6503	SO:0001819	synonymous_variant	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77765887G>A	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.834C>T	14.37:g.77765887G>A							p.H278H	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	7	1036	-			278					Q9NSG6|Q9P1W0|Q9P1W2	Silent	SNP	ENST00000261534.4	37	c.834C>T	CCDS9857.1																																																																																				0.498	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		9	62	0	0	0	1	0	9	62				
NNT	23530	broad.mit.edu	37	5	43649290	43649290	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr5:43649290C>G	ENST00000264663.5	+	11	1707	c.1486C>G	c.(1486-1488)Cta>Gta	p.L496V	NNT_ENST00000344920.4_Missense_Mutation_p.L496V|NNT_ENST00000512996.2_Missense_Mutation_p.L365V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	496					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GGCTCCCAATCTAGCCTTTTC	0.498																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1486-1488)Cta>Gta		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						352.0	326.0	335.0					5																	43649290		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43649290C>G	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1486C>G	5.37:g.43649290C>G	ENSP00000264663:p.Leu496Val					NNT_ENST00000344920.4_Missense_Mutation_p.L496V|NNT_ENST00000512996.2_Missense_Mutation_p.L365V	p.L496V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			11	1707	+	Lung NSC(6;2.58e-06)		496					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1486C>G	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	7.838	0.721272	0.15372	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.95518	-3.73;-3.73;-3.61	5.24	0.104	0.14531	.	0.738609	0.13255	N	0.401774	D	0.86802	0.6020	N	0.19112	0.55	0.20074	N	0.999933	B	0.02656	0.0	B	0.04013	0.001	T	0.73335	-0.4015	10	0.15066	T	0.55	0.0117	3.1538	0.06497	0.1206:0.0925:0.3677:0.4192	.	496	Q13423	NNTM_HUMAN	V	496;496;365	ENSP00000264663:L496V;ENSP00000343873:L496V;ENSP00000426343:L365V	ENSP00000264663:L496V	L	+	1	2	NNT	43685047	0.068000	0.21057	0.997000	0.53966	0.970000	0.65996	0.972000	0.29409	0.075000	0.16796	0.644000	0.83932	CTA		0.498	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		109	167	0	0	0	1	0	109	167				
PTPRC	5788	broad.mit.edu	37	1	198668788	198668788	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:198668788G>A	ENST00000367376.2	+	5	559	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	PTPRC_ENST00000442510.2_Missense_Mutation_p.A132T|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.A130T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	130					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CGGCTCCGCCGCCAATGCAAA	0.532											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(388-390)Gcc>Acc		protein tyrosine phosphatase, receptor type, C							106.0	112.0	110.0					1																	198668788		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198668788G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.388G>A	1.37:g.198668788G>A	ENSP00000356346:p.Ala130Thr		OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2100	PTPRC_ENST00000442510.2_Missense_Mutation_p.A132T|PTPRC_ENST00000352140.3_Missense_Mutation_p.A130T|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron	p.A130T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			5	559	+			130					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.388G>A		.	.	.	.	.	.	.	.	.	.	G	17.82	3.483077	0.63962	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367	T;T	0.03094	4.31;4.05	5.21	3.31	0.37934	.	0.659066	0.12995	N	0.422089	T	0.05547	0.0146	L	0.56769	1.78	0.23396	N	0.997768	P;P;B;B;D;P	0.64830	0.824;0.852;0.168;0.291;0.994;0.955	B;B;B;B;B;B	0.43155	0.124;0.079;0.018;0.033;0.41;0.357	T	0.37384	-0.9708	10	0.46703	T	0.11	.	7.3357	0.26609	0.092:0.169:0.7389:0.0	.	66;66;66;171;130;130	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;E9PC28;P08575	.;.;.;.;.;PTPRC_HUMAN	T	132;66;130;130;171;64;130;64	ENSP00000356346:A132T;ENSP00000193532:A130T	ENSP00000271610:A171T	A	+	1	0	PTPRC	196935411	0.911000	0.30947	0.079000	0.20413	0.007000	0.05969	1.249000	0.32839	0.562000	0.29204	0.555000	0.69702	GCC		0.532	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				7	203	0	0	0	1	0	7	203				
UGT2B7	7364	broad.mit.edu	37	4	69962319	69962319	+	Silent	SNP	G	G	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:69962319G>T	ENST00000508661.1	+	1	108	c.81G>T	c.(79-81)ctG>ctT	p.L27L	UGT2B7_ENST00000305231.7_Silent_p.L27L|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	27					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GAAAGGTGCTGGTGTGGGCAG	0.433																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(79-81)ctG>ctT		UDP glucuronosyltransferase 2 family, polypeptide B7							149.0	151.0	150.0					4																	69962319		2203	4300	6503	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962319G>T	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.81G>T	4.37:g.69962319G>T						UGT2B7_ENST00000508661.1_Silent_p.L27L|UGT2B7_ENST00000509763.1_Intron	p.L27L	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	127	+			27					B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37	c.81G>T																																																																																					0.433	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		11	93	1	0	3.07112e-06	1	3.16861e-06	11	93				
CD72	971	broad.mit.edu	37	9	35618218	35618218	+	Splice_Site	SNP	C	C	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr9:35618218C>A	ENST00000396757.1	-	2	247		c.e2+1		CD72_ENST00000378430.3_Splice_Site|CD72_ENST00000490239.1_Intron|CD72_ENST00000378431.1_Splice_Site|CD72_ENST00000259633.4_Splice_Site			P21854	CD72_HUMAN	CD72 molecule						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCCCCCTTACCCTGTCCTAA	0.567																																						ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.e2+1		CD72 molecule							116.0	97.0	104.0					9																	35618218		2203	4300	6503	SO:0001630	splice_region_variant	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35618218C>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.82+1G>T	9.37:g.35618218C>A						CD72_ENST00000378431.1_Splice_Site|CD72_ENST00000490239.1_Intron|CD72_ENST00000259633.4_Splice_Site|CD72_ENST00000378430.3_Splice_Site				P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	247	-									Splice_Site	SNP	ENST00000396757.1	37		CCDS6581.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282782	0.59867	.	.	ENSG00000137101	ENST00000396757;ENST00000259633;ENST00000378431;ENST00000378430	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0027	0.71486	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD72	35608218	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	3.979000	0.56888	2.612000	0.88384	0.655000	0.94253	.		0.567	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782	Intron	26	35	1	0	3.65163e-15	1	3.82832e-15	26	35				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	35	0	0	0	1	0	5	35				
ESX1	80712	broad.mit.edu	37	X	103495451	103495451	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:103495451G>A	ENST00000372588.4	-	4	762	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	227					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TCCAGAGCAGGAGCAGCATAA	0.552																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(679-681)Cct>Tct		ESX homeobox 1							196.0	152.0	167.0					X																	103495451		2203	4300	6503	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495451G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.679C>T	X.37:g.103495451G>A	ENSP00000361669:p.Pro227Ser						p.P227S	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			4	762	-			227					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.679C>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246167	0.39697	.	.	ENSG00000123576	ENST00000372588	T	0.70164	-0.46	4.64	2.69	0.31865	.	.	.	.	.	T	0.63283	0.2498	M	0.67397	2.05	0.09310	N	1	P	0.47841	0.901	P	0.44696	0.458	T	0.55224	-0.8174	9	0.45353	T	0.12	-4.0143	5.171	0.15110	0.2023:0.1701:0.6276:0.0	.	227	Q8N693	ESX1_HUMAN	S	227	ENSP00000361669:P227S	ENSP00000361669:P227S	P	-	1	0	ESX1	103382107	0.607000	0.26958	0.011000	0.14972	0.002000	0.02628	2.490000	0.45294	1.030000	0.39839	0.600000	0.82982	CCT		0.552	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		14	209	0	0	0	1	0	14	209				
HOXC4	3221	broad.mit.edu	37	12	54447975	54447975	+	Missense_Mutation	SNP	A	A	C	rs562717137	byFrequency	TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr12:54447975A>C	ENST00000430889.2	+	1	315	c.269A>C	c.(268-270)cAc>cCc	p.H90P	HOXC4_ENST00000609810.1_Missense_Mutation_p.H90P|HOXC4_ENST00000303406.4_Missense_Mutation_p.H90P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	90					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GGCCACCACCACCCCGAGAAA	0.736													A|||	31	0.0061901	0.0038	0.0086	5008	,	,		8770	0.006		0.0099	False		,,,				2504	0.0041					ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(268-270)cAc>cCc		homeobox C4							18.0	24.0	22.0					12																	54447975		2193	4284	6477	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54447975A>C		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.269A>C	12.37:g.54447975A>C	ENSP00000399808:p.His90Pro					HOXC4_ENST00000303406.4_Missense_Mutation_p.H90P	p.H90P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			1	315	+			90						Missense_Mutation	SNP	ENST00000430889.2	37	c.269A>C	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	A	8.328	0.825775	0.16749	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	T;T	0.78481	-1.18;-1.18	3.95	3.95	0.45737	.	0.695563	0.13752	N	0.365204	T	0.56746	0.2006	N	0.17474	0.49	0.31248	N	0.69439	B	0.32829	0.386	B	0.20384	0.029	T	0.57723	-0.7762	10	0.25106	T	0.35	.	8.3095	0.32062	0.8229:0.0:0.0:0.1771	.	90	P09017	HXC4_HUMAN	P	90	ENSP00000305973:H90P;ENSP00000399808:H90P	ENSP00000305973:H90P	H	+	2	0	HOXC4	52734242	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.337000	0.52120	1.775000	0.52247	0.379000	0.24179	CAC		0.736	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			7	44	0	0	0	1	0	7	44				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	33	0	0	0	1	0	18	33				
KIAA1614	57710	broad.mit.edu	37	1	180885464	180885464	+	Silent	SNP	A	A	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:180885464A>G	ENST00000367588.4	+	2	280	c.225A>G	c.(223-225)gtA>gtG	p.V75V		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	75										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TATGGGGAGTACAGCTCCAGG	0.597																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(223-225)gtA>gtG		KIAA1614							43.0	49.0	47.0					1																	180885464		1927	4127	6054	SO:0001819	synonymous_variant	57710							g.chr1:180885464A>G	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.225A>G	1.37:g.180885464A>G							p.V75V	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			2	280	+			75					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.225A>G	CCDS41442.1																																																																																				0.597	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		18	27	0	0	0	1	0	18	27				
RAP2C	57826	broad.mit.edu	37	X	131348314	131348314	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:131348314G>A	ENST00000342983.2	-	3	1180	c.434C>T	c.(433-435)aCa>aTa	p.T145I	RAP2C_ENST00000370874.1_Missense_Mutation_p.T145I|RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	145					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TTTTGCCGATGTCTCCATGAA	0.443																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(433-435)aCa>aTa		RAP2C, member of RAS oncogene family							153.0	125.0	134.0					X																	131348314		2203	4300	6503	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131348314G>A	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.434C>T	X.37:g.131348314G>A	ENSP00000340274:p.Thr145Ile					RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.T145I	p.T145I	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			3	1180	-	Acute lymphoblastic leukemia(192;0.000127)		145					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.434C>T	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361592	0.82353	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.80653	-1.4;-1.4	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91660	0.7364	M	0.88181	2.935	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.93020	0.6439	10	0.87932	D	0	.	18.7107	0.91655	0.0:0.0:1.0:0.0	.	145	Q9Y3L5	RAP2C_HUMAN	I	145	ENSP00000340274:T145I;ENSP00000359911:T145I	ENSP00000340274:T145I	T	-	2	0	RAP2C	131175995	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.424000	0.97464	2.363000	0.80096	0.556000	0.70494	ACA		0.443	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		25	67	0	0	0	1	0	25	67				
RANBP2	5903	broad.mit.edu	37	2	109371692	109371692	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr2:109371692T>C	ENST00000283195.6	+	17	2569	c.2443T>C	c.(2443-2445)Tgc>Cgc	p.C815R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	815					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAAATGATTTGCCAACAAGT	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2443-2445)Tgc>Cgc		RAN binding protein 2							155.0	170.0	165.0					2																	109371692		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371692T>C	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2443T>C	2.37:g.109371692T>C	ENSP00000283195:p.Cys815Arg						p.C815R	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2569	+			815					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2443T>C	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	t	12.30	1.895881	0.33442	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.24350	1.86	5.8	5.8	0.92144	.	.	.	.	.	T	0.40839	0.1133	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.11542	-1.0583	9	0.36615	T	0.2	-2.8232	16.1496	0.81605	0.0:0.0:0.0:1.0	.	815	P49792	RBP2_HUMAN	R	815	ENSP00000283195:C815R	ENSP00000283195:C815R	C	+	1	0	RANBP2	108738124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.914000	0.75764	2.210000	0.71456	0.443000	0.29094	TGC		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		4	163	0	0	0	1	0	4	163				
KCND2	3751	broad.mit.edu	37	7	119915148	119915148	+	Silent	SNP	C	C	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr7:119915148C>T	ENST00000331113.4	+	1	1427	c.462C>T	c.(460-462)acC>acT	p.T154T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	154					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ACGCGGATACCGACACCGCTG	0.622																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(460-462)acC>acT		potassium voltage-gated channel, Shal-related subfamily, member 2							73.0	75.0	74.0					7																	119915148		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915148C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.462C>T	7.37:g.119915148C>T							p.T154T	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1427	+	all_neural(327;0.117)		154					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.462C>T	CCDS5776.1																																																																																				0.622	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		6	101	0	0	0	1	0	6	101				
CT47B1	643311	broad.mit.edu	37	X	120009261	120009261	+	Silent	SNP	C	C	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:120009261C>T	ENST00000371311.3	-	1	518	c.264G>A	c.(262-264)ggG>ggA	p.G88G		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	88										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ccGTCGCGGGCCCGATATCTG	0.721																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(262-264)ggG>ggA		cancer/testis antigen family 47, member B1							30.0	35.0	34.0					X																	120009261		692	1590	2282	SO:0001819	synonymous_variant	643311							g.chrX:120009261C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.264G>A	X.37:g.120009261C>T							p.G88G	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	518	-			88					A6NM97	Silent	SNP	ENST00000371311.3	37	c.264G>A	CCDS48161.1																																																																																				0.721	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		10	20	0	0	0	1	0	10	20				
POLR2A	5430	broad.mit.edu	37	17	7412932	7412932	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:7412932A>T	ENST00000322644.6	+	22	4193	c.3794A>T	c.(3793-3795)gAt>gTt	p.D1265V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1265					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATGAACAGCGATGAGAACAAG	0.458																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(3793-3795)gAt>gTt		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							140.0	122.0	128.0					17																	7412932		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7412932A>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3794A>T	17.37:g.7412932A>T	ENSP00000314949:p.Asp1265Val						p.D1265V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			22	4193	+		Prostate(122;0.173)	1265					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.3794A>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.911890	0.72983	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.68025	-0.3	4.69	4.69	0.59074	RNA polymerase Rpb1, domain 5 (1);RNA polymerase Rpb1, domain 7 (1);	0.000000	0.85682	D	0.000000	T	0.77198	0.4095	M	0.86953	2.85	0.80722	D	1	P	0.47191	0.891	P	0.49887	0.625	T	0.82420	-0.0466	10	0.87932	D	0	-12.3166	13.3101	0.60376	1.0:0.0:0.0:0.0	.	1265	P24928	RPB1_HUMAN	V	1221;164;1265	ENSP00000314949:D1265V	ENSP00000314949:D1265V	D	+	2	0	SLC35G6	7353656	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	8.373000	0.90131	1.999000	0.58509	0.369000	0.22263	GAT		0.458	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		13	115	0	0	0	1	0	13	115				
TCEA2	6919	broad.mit.edu	37	20	62701881	62701881	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr20:62701881A>T	ENST00000343484.5	+	8	881	c.712A>T	c.(712-714)Atg>Ttg	p.M238L	TCEA2_ENST00000361317.2_Missense_Mutation_p.M211L|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	238	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCGTAAGGCCATGACCAAGGA	0.632																																						ENST00000361317.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12						c.(631-633)Atg>Ttg		transcription elongation factor A (SII), 2							58.0	58.0	58.0					20																	62701881		2203	4300	6503	SO:0001583	missense	6919				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	g.chr20:62701881A>T	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.712A>T	20.37:g.62701881A>T	ENSP00000343515:p.Met238Leu					TCEA2_ENST00000343484.5_Missense_Mutation_p.M238L|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR	p.M211L	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN			9	1073	+	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		238			TFIIS central.		B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	ENST00000343484.5	37	c.631A>T	CCDS13553.1	.	.	.	.	.	.	.	.	.	.	A	5.064	0.197520	0.09652	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000339217;ENST00000440819;ENST00000458442	.	.	.	4.29	4.29	0.51040	Transcription elongation factor S-II, central domain (2);	0.054782	0.85682	D	0.000000	T	0.21550	0.0519	N	0.02334	-0.595	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.20538	-1.0272	9	0.02654	T	1	0.9001	9.985	0.41837	0.8297:0.1702:0.0:0.0	.	238;238;211	Q15560;Q6IB64;B3KNM1	TCEA2_HUMAN;.;.	L	211;238;211;211;211	.	ENSP00000339432:M211L	M	+	1	0	TCEA2	62172325	0.915000	0.31059	1.000000	0.80357	0.986000	0.74619	1.291000	0.33330	1.720000	0.51447	0.374000	0.22700	ATG		0.632	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	NM_198723		24	40	0	0	0	1	0	24	40				
FAM86C1	55199	broad.mit.edu	37	11	71507263	71507263	+	Intron	SNP	A	A	G	rs374470969		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:71507263A>G	ENST00000359244.4	+	4	434				FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000426628.2_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1											lung(1)	1						CTGTCCCTACAGGACTCCAGT	0.627																																						ENST00000528685.1																			0				lung(1)	1						c.(358-360)acA>acG		family with sequence similarity 86, member C1							54.0	63.0	60.0					11																	71507263		2200	4293	6493	SO:0001627	intron_variant	55199							g.chr11:71507263A>G	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.411+51A>G	11.37:g.71507263A>G						FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron	p.T120T			Q9NVL1	FA86C_HUMAN			3	360	+			0					Q8N5D3	Silent	SNP	ENST00000359244.4	37	c.360A>G	CCDS41686.1																																																																																				0.627	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		4	110	0	0	0	1	0	4	110				
MAMDC4	158056	broad.mit.edu	37	9	139752161	139752161	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr9:139752161A>G	ENST00000317446.2	+	19	2427	c.2377A>G	c.(2377-2379)Acg>Gcg	p.T793A	MAMDC4_ENST00000445819.1_Missense_Mutation_p.T872A|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCGGGGCCAGACGGCCTCCCT	0.677																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(2614-2616)Acg>Gcg		MAM domain containing 4							28.0	30.0	30.0					9																	139752161		2196	4296	6492	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139752161A>G	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2377A>G	9.37:g.139752161A>G	ENSP00000319388:p.Thr793Ala					MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.T793A	p.T872A			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	21	2664	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	872			MAM 5.			Missense_Mutation	SNP	ENST00000317446.2	37	c.2614A>G	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.006|0.006	-2.087146|-2.087146	0.00367|0.00367	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.02197	.|4.4;4.4	4.23|4.23	-1.22|-1.22	0.09494|0.09494	.|Concanavalin A-like lectin/glucanase (1);MAM domain (3);	.|2.923980	.|0.01208	.|N	.|0.007779	T|T	0.02267|0.02267	0.0070|0.0070	L|L	0.39245|0.39245	1.2|1.2	0.09310|0.09310	N|N	1|1	.|B;B	.|0.19445	.|0.036;0.002	.|B;B	.|0.13407	.|0.009;0.002	T|T	0.46748|0.46748	-0.9169|-0.9169	5|10	.|0.08179	.|T	.|0.78	-0.0791|-0.0791	5.0337|5.0337	0.14423|0.14423	0.4394:0.0:0.4249:0.1357|0.4394:0.0:0.4249:0.1357	.|.	.|872;793	.|Q6UXC1;Q6UXC1-2	.|AEGP_HUMAN;.	G|A	857|793;872	.|ENSP00000319388:T793A;ENSP00000411339:T872A	.|ENSP00000319388:T793A	D|T	+|+	2|1	0|0	MAMDC4|MAMDC4	138871982|138871982	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.008000|0.008000	0.06430|0.06430	-0.267000|-0.267000	0.08619|0.08619	-0.207000|-0.207000	0.10187|0.10187	-0.415000|-0.415000	0.06103|0.06103	GAC|ACG		0.677	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		3	21	0	0	0	1	0	3	21				
NT5C1B	93034	broad.mit.edu	37	2	18768782	18768782	+	Missense_Mutation	SNP	C	C	T	rs368786487		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr2:18768782C>T	ENST00000359846.2	-	2	184	c.107G>A	c.(106-108)cGt>cAt	p.R36H	NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000304081.4_Missense_Mutation_p.R36H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R36H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R36H	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	36					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATTGCTCAGACGAACTCCTGT	0.438																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(106-108)cGt>cAt		5'-nucleotidase, cytosolic IB		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	175.0	159.0	165.0		107,107,107,107,107,107,107	4.2	0.2	2		165	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	NT5C1B,NT5C1B-RDH14	NM_001002006.2,NM_001199086.1,NM_001199087.1,NM_001199088.1,NM_001199103.1,NM_001199104.1,NM_033253.3	29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	36/611,36/594,36/628,36/613,36/651,36/603,36/551	18768782	1,13005	2203	4300	6503	SO:0001583	missense	93034							g.chr2:18768782C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.107G>A	2.37:g.18768782C>T	ENSP00000352904:p.Arg36His					NT5C1B_ENST00000600945.1_Missense_Mutation_p.R36H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R36H|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000359846.2_Missense_Mutation_p.R36H	p.R36H	NM_033253.3	NP_150278.2					2	207	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.107G>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035197	0.35893	0.0	1.16E-4	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.94897	-3.55	5.1	4.22	0.49857	.	0.000000	0.44097	D	0.000495	D	0.94013	0.8082	L	0.27053	0.805	0.09310	N	1	D;D;P;D;B;P;P;P	0.89917	1.0;1.0;0.736;1.0;0.394;0.828;0.736;0.828	D;D;B;D;B;B;B;B	0.83275	0.996;0.994;0.099;0.996;0.099;0.201;0.099;0.201	D	0.87298	0.2303	10	0.51188	T	0.08	-9.8979	9.5647	0.39391	0.0:0.9052:0.0:0.0948	.	36;36;36;36;36;36;36;36	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	H	36	ENSP00000412639:R36H	ENSP00000305979:R36H	R	-	2	0	NT5C1B-RDH14;NT5C1B	18632263	0.797000	0.28877	0.154000	0.22540	0.114000	0.19823	1.943000	0.40253	1.376000	0.46267	0.563000	0.77884	CGT		0.438	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			36	60	0	0	0	1	0	36	60				
HBS1L	10767	broad.mit.edu	37	6	135314939	135314939	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr6:135314939C>T	ENST00000367837.5	-	8	1246	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	HBS1L_ENST00000367826.2_Missense_Mutation_p.G305D|HBS1L_ENST00000415177.2_Missense_Mutation_p.G282D|HBS1L_ENST00000445176.2_Missense_Mutation_p.G71D|HBS1L_ENST00000527578.1_Missense_Mutation_p.G183D|HBS1L_ENST00000367824.4_Missense_Mutation_p.G183D	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	347	G3. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GTCCTTATGGCCTGGAGCATC	0.368																																						ENST00000367837.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1039-1041)gGc>gAc		HBS1-like (S. cerevisiae)							152.0	135.0	141.0					6																	135314939		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135314939C>T	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1040G>A	6.37:g.135314939C>T	ENSP00000356811:p.Gly347Asp					HBS1L_ENST00000415177.2_Missense_Mutation_p.G282D|HBS1L_ENST00000367826.2_Missense_Mutation_p.G305D|HBS1L_ENST00000527578.1_Missense_Mutation_p.G183D|HBS1L_ENST00000367824.4_Missense_Mutation_p.G183D|HBS1L_ENST00000445176.2_Missense_Mutation_p.G71D	p.G347D	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	8	1246	-	Colorectal(23;0.221)		347					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1040G>A	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152411	0.94645	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176;ENST00000529641	D;D;D;D;D;D;D;D	0.95482	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-3.72	6.17	5.3	0.74995	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	H	0.99498	4.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98871	1.0766	10	0.87932	D	0	-8.4919	15.9972	0.80260	0.0:0.935:0.0:0.065	.	305;347	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	D	347;183;282;305;183;217;71;183	ENSP00000356811:G347D;ENSP00000436256:G183D;ENSP00000389826:G282D;ENSP00000356800:G305D;ENSP00000356798:G183D;ENSP00000434533:G217D;ENSP00000415305:G71D;ENSP00000436620:G183D	ENSP00000356798:G183D	G	-	2	0	HBS1L	135356632	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGC		0.368	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			3	23	0	0	0	1	0	3	23				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	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		5	31	0	0	0	1	0	5	31				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	ZFHX3_ENST00000397992.5_Silent_p.G2605G|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		6	42	0	0	0	1	0	6	42				
ARHGAP33	115703	broad.mit.edu	37	19	36268615	36268615	+	Silent	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr19:36268615G>A	ENST00000007510.4	+	2	219	c.75G>A	c.(73-75)ggG>ggA	p.G25G	ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Silent_p.G25G|ARHGAP33_ENST00000378944.5_Intron			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	25					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGCTGGGGGGCCCAGTGTGA	0.642																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(73-75)ggG>ggA		Rho GTPase activating protein 33							22.0	26.0	25.0					19																	36268615		2202	4299	6501	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36268615G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.75G>A	19.37:g.36268615G>A						ARHGAP33_ENST00000378944.5_Intron|ARHGAP33_ENST00000314737.5_Silent_p.G25G|ARHGAP33_ENST00000221905.1_3'UTR	p.G25G			O14559	RHG33_HUMAN			2	219	+			25					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.75G>A																																																																																					0.642	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		3	7	0	0	0	1	0	3	7				
ADAMTS3	9508	broad.mit.edu	37	4	73169701	73169701	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:73169701T>C	ENST00000286657.4	-	17	2393	c.2357A>G	c.(2356-2358)tAt>tGt	p.Y786C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	786	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCAATGTTATAATCCCACTC	0.413																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2356-2358)tAt>tGt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							224.0	214.0	217.0					4																	73169701		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73169701T>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2357A>G	4.37:g.73169701T>C	ENSP00000286657:p.Tyr786Cys						p.Y786C	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		17	2393	-			786			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2357A>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494362	0.85069	.	.	ENSG00000156140	ENST00000286657	T	0.66815	-0.23	5.56	5.56	0.83823	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000001	D	0.83912	0.5357	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87035	0.2137	10	0.87932	D	0	.	15.7247	0.77747	0.0:0.0:0.0:1.0	.	786	O15072	ATS3_HUMAN	C	786	ENSP00000286657:Y786C	ENSP00000286657:Y786C	Y	-	2	0	ADAMTS3	73388565	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.950000	0.87804	2.117000	0.64856	0.528000	0.53228	TAT		0.413	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			5	208	0	0	0	1	0	5	208				
DCHS1	8642	broad.mit.edu	37	11	6650970	6650970	+	Silent	SNP	G	G	A	rs144759454		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:6650970G>A	ENST00000299441.3	-	11	5379	c.4968C>T	c.(4966-4968)gtC>gtT	p.V1656V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1656	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACGCAAGAGGACGCTGTACT	0.632																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(4966-4968)gtC>gtT		dachsous cadherin-related 1		G		1,4401	2.1+/-5.4	0,1,2200	40.0	40.0	40.0		4968	2.4	1.0	11	dbSNP_134	40	0,8592		0,0,4296	no	coding-synonymous	DCHS1	NM_003737.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		1656/3299	6650970	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6650970G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4968C>T	11.37:g.6650970G>A							p.V1656V	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	5379	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1656			Cadherin 16.		O15098	Silent	SNP	ENST00000299441.3	37	c.4968C>T	CCDS7771.1																																																																																				0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		11	20	0	0	0	1	0	11	20				
PKHD1	5314	broad.mit.edu	37	6	51512879	51512879	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr6:51512879G>C	ENST00000371117.3	-	63	11623	c.11348C>G	c.(11347-11349)cCa>cGa	p.P3783R		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3783			P -> S (in ARPKD). {ECO:0000269|PubMed:12874454}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATTGTCCATGGCTCTGAAGG	0.423																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11347-11349)cCa>cGa		polycystic kidney and hepatic disease 1 (autosomal recessive)							119.0	121.0	120.0					6																	51512879		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51512879G>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11348C>G	6.37:g.51512879G>C	ENSP00000360158:p.Pro3783Arg						p.P3783R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			63	11623	-	Lung NSC(77;0.0605)		3783		P -> S (in ARPKD).			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11348C>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081862	0.76528	.	.	ENSG00000170927	ENST00000371117	D	0.89810	-2.57	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000002	D	0.92156	0.7513	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	P	0.62298	0.9	D	0.92927	0.6360	10	0.87932	D	0	.	17.635	0.88119	0.0:0.0:1.0:0.0	.	3783	P08F94	PKHD1_HUMAN	R	3783	ENSP00000360158:P3783R	ENSP00000360158:P3783R	P	-	2	0	PKHD1	51620838	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	5.253000	0.65452	2.492000	0.84095	0.650000	0.86243	CCA		0.423	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		27	60	0	0	0	1	0	27	60				
C4orf19	55286	broad.mit.edu	37	4	37591775	37591775	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:37591775T>C	ENST00000284437.6	+	3	276	c.98T>C	c.(97-99)cTa>cCa	p.L33P	RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.L33P|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	33										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGCTGCAAGCTAGATGAAGAC	0.458																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(97-99)cTa>cCa		chromosome 4 open reading frame 19							247.0	260.0	255.0					4																	37591775		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37591775T>C	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.98T>C	4.37:g.37591775T>C	ENSP00000284437:p.Leu33Pro					C4orf19_ENST00000381980.4_Missense_Mutation_p.L33P|C4orf19_ENST00000508175.1_Intron	p.L33P	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	276	+			33					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.98T>C	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628365	0.46944	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.34667	1.35;1.35	5.54	3.05	0.35203	.	0.475226	0.17400	N	0.175566	T	0.47229	0.1434	L	0.59436	1.845	0.09310	N	0.999995	D	0.67145	0.996	D	0.63113	0.911	T	0.26360	-1.0105	10	0.66056	D	0.02	-1.9682	5.2667	0.15603	0.14:0.1507:0.0:0.7093	.	33	Q8IY42	CD019_HUMAN	P	33	ENSP00000371408:L33P;ENSP00000284437:L33P	ENSP00000284437:L33P	L	+	2	0	C4orf19	37268170	0.002000	0.14202	0.402000	0.26371	0.698000	0.40448	0.376000	0.20535	1.110000	0.41699	0.533000	0.62120	CTA		0.458	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		10	369	0	0	0	1	0	10	369				
ZP2	7783	broad.mit.edu	37	16	21212828	21212828	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr16:21212828A>G	ENST00000574002.1	-	15	2038	c.1556T>C	c.(1555-1557)tTc>tCc	p.F519S	ZP2_ENST00000219593.4_Missense_Mutation_p.F519S|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.F510S			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	519	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TTGGCGGAGGAATCTCACTAG	0.448																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(1555-1557)tTc>tCc		zona pellucida glycoprotein 2 (sperm receptor)							218.0	196.0	203.0					16																	21212828		2200	4300	6500	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21212828A>G	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1556T>C	16.37:g.21212828A>G	ENSP00000460971:p.Phe519Ser					ZP2_ENST00000574091.1_Missense_Mutation_p.F510S|ZP2_ENST00000219593.4_Missense_Mutation_p.F519S|AF001550.7_ENST00000572747.1_RNA	p.F519S			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	15	2038	-			519			ZP.		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.1556T>C	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.346634	0.24426	.	.	ENSG00000103310	ENST00000219593	T	0.81163	-1.46	5.0	2.26	0.28386	Zona pellucida sperm-binding protein (3);	0.449453	0.21227	N	0.078056	T	0.77805	0.4185	L	0.55481	1.735	0.23192	N	0.99815	B;B	0.30146	0.27;0.052	B;B	0.41135	0.348;0.115	T	0.70346	-0.4897	10	0.62326	D	0.03	-8.6085	5.9798	0.19401	0.3668:0.0:0.1188:0.5144	.	510;519	Q4VAP1;Q05996	.;ZP2_HUMAN	S	519	ENSP00000219593:F519S	ENSP00000219593:F519S	F	-	2	0	ZP2	21120329	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	0.799000	0.27028	0.777000	0.33496	-0.468000	0.05107	TTC		0.448	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			6	117	0	0	0	1	0	6	117				
AP4B1	10717	broad.mit.edu	37	1	114438891	114438891	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:114438891T>A	ENST00000369569.1	-	8	1779	c.1499A>T	c.(1498-1500)tAt>tTt	p.Y500F	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.Y500F|AP4B1_ENST00000369567.1_Missense_Mutation_p.Y332F|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	500					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATGCAGTAATACAACAAACG	0.448																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1498-1500)tAt>tTt		adaptor-related protein complex 4, beta 1 subunit							101.0	104.0	103.0					1																	114438891		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114438891T>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1499A>T	1.37:g.114438891T>A	ENSP00000358582:p.Tyr500Phe					AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.Y332F|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.Y500F	p.Y500F	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1779	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	500					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1499A>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	T	9.714	1.157959	0.21454	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.25912	1.77;1.77;1.77	6.04	3.7	0.42460	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.495032	0.25156	N	0.032717	T	0.10981	0.0268	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.22983	0.078;0.025;0.076;0.013	B;B;B;B	0.32289	0.143;0.094;0.112;0.051	T	0.04386	-1.0955	10	0.56958	D	0.05	.	8.1664	0.31228	0.1207:0.0651:0.0:0.8142	.	500;332;500;401	B2RBF6;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	F	332;500;500	ENSP00000358580:Y332F;ENSP00000358582:Y500F;ENSP00000256658:Y500F	ENSP00000256658:Y500F	Y	-	2	0	AP4B1	114240414	1.000000	0.71417	0.094000	0.20943	0.908000	0.53690	4.781000	0.62389	0.507000	0.28148	0.460000	0.39030	TAT		0.448	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		6	123	0	0	0	1	0	6	123				
TMPRSS11F	389208	broad.mit.edu	37	4	68938111	68938111	+	Silent	SNP	C	C	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:68938111C>T	ENST00000356291.2	-	5	503	c.444G>A	c.(442-444)aaG>aaA	p.K148K	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	148	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GATATAAAGCCTTTTCAATTT	0.323																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(442-444)aaG>aaA		transmembrane protease, serine 11F							96.0	97.0	96.0					4																	68938111		2202	4296	6498	SO:0001819	synonymous_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68938111C>T	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.444G>A	4.37:g.68938111C>T						RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	p.K148K	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			5	503	-			148			SEA.		A8MXX2	Silent	SNP	ENST00000356291.2	37	c.444G>A	CCDS3520.1																																																																																				0.323	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		11	56	0	0	0	1	0	11	56				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	52	0	0	0	1	0	5	52				
CBX4	8535	broad.mit.edu	37	17	77808940	77808940	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:77808940T>A	ENST00000269397.4	-	5	678	c.501A>T	c.(499-501)aaA>aaT	p.K167N	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	167	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGTCGTACATTTTGGGGTCGG	0.687											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(499-501)aaA>aaT		chromobox homolog 4							92.0	91.0	91.0					17																	77808940		2203	4300	6503	SO:0001583	missense	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808940T>A	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.501A>T	17.37:g.77808940T>A	ENSP00000269397:p.Lys167Asn		OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178	CBX4_ENST00000448310.1_3'UTR	p.K167N	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	678	-			167			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	c.501A>T	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	t	17.57	3.422044	0.62622	.	.	ENSG00000141582	ENST00000269397	.	.	.	4.16	-5.88	0.02290	.	0.409391	0.23378	U	0.048828	T	0.41719	0.1171	L	0.47716	1.5	0.80722	D	1	B	0.29862	0.259	B	0.25759	0.063	T	0.02751	-1.1115	9	0.45353	T	0.12	-29.363	11.5278	0.50591	0.0:0.6675:0.0:0.3325	.	167	O00257	CBX4_HUMAN	N	167	.	ENSP00000269397:K167N	K	-	3	2	CBX4	75423535	0.783000	0.28701	0.948000	0.38648	0.951000	0.60555	-0.138000	0.10374	-1.312000	0.02306	-0.775000	0.03384	AAA		0.687	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		4	107	0	0	0	1	0	4	107				
MRGPRD	116512	broad.mit.edu	37	11	68747597	68747597	+	Silent	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:68747597G>A	ENST00000309106.3	-	1	858	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	287						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGGTGGGCAGCCTGTGGCTC	0.662																																						ENST00000309106.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(859-861)Ctg>Ttg		MAS-related GPR, member D							24.0	32.0	29.0					11																	68747597		2172	4247	6419	SO:0001819	synonymous_variant	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68747597G>A	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.859C>T	11.37:g.68747597G>A							p.L287L	NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	858	-			287					Q8NGK7	Silent	SNP	ENST00000309106.3	37	c.859C>T	CCDS31625.1																																																																																				0.662	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		16	76	0	0	0	1	0	16	76				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	39	0	0	0	1	0	4	39				
CUL4B	8450	broad.mit.edu	37	X	119674329	119674329	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:119674329A>T	ENST00000404115.3	-	13	1987	c.1586T>A	c.(1585-1587)aTa>aAa	p.I529K	CUL4B_ENST00000371322.5_Missense_Mutation_p.I511K|CUL4B_ENST00000336592.6_Missense_Mutation_p.I516K	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	529					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATATCAATTATATGGTCAAC	0.308																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1531-1533)aTa>aAa		cullin 4B							113.0	101.0	105.0					X																	119674329		2202	4294	6496	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119674329A>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1586T>A	X.37:g.119674329A>T	ENSP00000384109:p.Ile529Lys					CUL4B_ENST00000336592.6_Missense_Mutation_p.I516K|CUL4B_ENST00000404115.3_Missense_Mutation_p.I529K	p.I511K	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			11	1593	-			529					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.1532T>A	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.890754	0.52014	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.79653	-1.29;-1.29;-1.29	5.6	5.6	0.85130	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.088129	0.85682	D	0.000000	D	0.91811	0.7409	M	0.93678	3.445	0.80722	D	1	P;P;P	0.52692	0.47;0.955;0.945	P;D;D	0.69654	0.84;0.965;0.941	D	0.93612	0.6940	9	.	.	.	-16.3765	13.9192	0.63921	1.0:0.0:0.0:0.0	.	333;529;511	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	K	511;516;529	ENSP00000360373:I511K;ENSP00000338919:I516K;ENSP00000384109:I529K	.	I	-	2	0	CUL4B	119558357	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	9.259000	0.95561	1.884000	0.54569	0.430000	0.28490	ATA		0.308	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		4	64	0	0	0	1	0	4	64				
GPC6	10082	broad.mit.edu	37	13	93879733	93879733	+	Silent	SNP	G	G	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr13:93879733G>T	ENST00000377047.4	+	1	639	c.24G>T	c.(22-24)gtG>gtT	p.V8V		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	8					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCGGGGCTGTGATTCTTCCCC	0.642											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377047.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(22-24)gtG>gtT		glypican 6							123.0	124.0	123.0					13																	93879733		2203	4300	6503	SO:0001819	synonymous_variant	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93879733G>T	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.24G>T	13.37:g.93879733G>T			OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1301		p.V8V	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN			1	639	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	8					A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	ENST00000377047.4	37	c.24G>T	CCDS9469.1																																																																																				0.642	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		12	88	1	0	0.0167234	1	0.0169847	12	88				
EMC3-AS1	442075	broad.mit.edu	37	3	10035779	10035783	+	RNA	DEL	AGTCT	AGTCT	-	rs35714562|rs199577504		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr3:10035779_10035783delAGTCT	ENST00000326237.3	+	0	354																											GGGGAAGAGAAGTCTGATCTGACAT	0.38																																						ENST00000326237.3																			0																																																			0							g.chr3:10035779_10035783delAGTCT																													3.37:g.10035779_10035783delAGTCT														0	354	+									RNA	DEL	ENST00000326237.3	37																																																																																						0.380	AC034193.5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339468.1			10	40						10	40	---	---	---	---
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861|rs3832595	byFrequency	TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcagcc>gcc	p.13_14AA>A	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13				Missing (in Ref. 1 and 3). {ECO:0000305}.	bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764														1558	0.311102	0.0401	0.389	5008	,	,		9448	0.4038		0.3956	False		,,,				2504	0.4397					ENST00000220772.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7						c.(37-42)gcc>gc		secreted frizzled-related protein 1				337,0,3741		45,0,247,0,0,1747						1.6	0.3		dbSNP_107	8	2693,2,5163		669,0,1355,0,2,1903	no	codingComplex	SFRP1	NM_003012.4		714,0,1602,0,2,3650	A1A1,A1A2,A1R,A2A2,A2R,RR		34.2963,8.2639,25.4021				3030,2,8904				SO:0001651	inframe_deletion	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41166638_41166640delGCT	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.39_41delAGC	8.37:g.41166638_41166640delGCT	ENSP00000220772:p.Ala14del						p.AA13del	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		1	376_378	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	13					O00546|O14779	In_Frame_Del	DEL	ENST00000220772.3	37	c.39_41delAGC	CCDS34886.1																																																																																				0.764	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		3	6						3	6	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77493648	77493650	+	In_Frame_Del	DEL	GCG	GCG	-	rs371633333		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr14:77493648_77493650delGCG	ENST00000238647.3	-	1	1384_1386	c.486_488delCGC	c.(484-489)gccgct>gct	p.162_163AA>A		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	162	Poly-Ala.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TTCCACCgcagcggcggcggcgg	0.749																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(484-489)gct>gc		interferon regulatory factor 2 binding protein-like																																				SO:0001651	inframe_deletion	64207					nucleus		g.chr14:77493648_77493650delGCG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.486_488delCGC	14.37:g.77493657_77493659delGCG	ENSP00000238647:p.Ala164del						p.AA162del	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1384_1386	-			162			Poly-Ala.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	c.486_488delCGC	CCDS9854.1																																																																																				0.749	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		8	8						8	8	---	---	---	---
TCF12	6938	broad.mit.edu	37	15	57523394	57523394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr15:57523394delT	ENST00000267811.5	+	9	928	c.624delT	c.(622-624)tctfs	p.S208fs	TCF12_ENST00000543579.1_Frame_Shift_Del_p.S38fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000537840.1_Frame_Shift_Del_p.L20fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.S38fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S208fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S204fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S208fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S208fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	208					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACCGTGAATCTCCTAGTTATC	0.353			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(622-624)tcfs		transcription factor 12							171.0	155.0	160.0					15																	57523394		2192	4292	6484	SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57523394delT	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.624delT	15.37:g.57523394delT	ENSP00000267811:p.Ser208fs					TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S208fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S204fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S208fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.S38fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.S38fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.L20fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S208fs	p.S208fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	9	928	+		Colorectal(260;0.0907)	208					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.624delT	CCDS10159.1																																																																																				0.353	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		45	106						45	106	---	---	---	---
