#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
ZFYVE1	53349	broad.mit.edu	37	14	73459968	73459968	+	Silent	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr14:73459968C>T	ENST00000556143.1	-	4	1806	c.1086G>A	c.(1084-1086)acG>acA	p.T362T	ZFYVE1_ENST00000553891.1_Silent_p.T362T|ZFYVE1_ENST00000318876.5_Silent_p.T362T	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	362					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TGTAAGTCCTCGTTCCCTTGT	0.562																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(1084-1086)acG>acA		zinc finger, FYVE domain containing 1							79.0	82.0	81.0					14																	73459968		2203	4300	6503	SO:0001819	synonymous_variant	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73459968C>T	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1086G>A	14.37:g.73459968C>T						ZFYVE1_ENST00000553891.1_Silent_p.T362T|ZFYVE1_ENST00000318876.5_Silent_p.T362T	p.T362T	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	4	1806	-		all_lung(585;1.33e-09)	362					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	ENST00000556143.1	37	c.1086G>A	CCDS9811.1																																																																																				0.562	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		43	61	0	0	0	0.139131	0	43	61				
MUC4	4585	broad.mit.edu	37	3	195512117	195512117	+	Missense_Mutation	SNP	C	C	G	rs200655750	byFrequency	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:195512117C>G	ENST00000463781.3	-	2	6793	c.6334G>C	c.(6334-6336)Gct>Cct	p.A2112P	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2112P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCATGAAGAGCGGTGGCGTGA	0.567																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6334-6336)Gct>Cct		mucin 4, cell surface associated							73.0	62.0	65.0					3																	195512117		691	1589	2280	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512117C>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6334G>C	3.37:g.195512117C>G	ENSP00000417498:p.Ala2112Pro					MUC4_ENST00000475231.1_Missense_Mutation_p.A2112P|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.A2112P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6793	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	880			EGF-like 2.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.6334G>C	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	G	7.400	0.632537	0.14322	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.43688	0.94;0.97	.	.	.	.	.	.	.	.	T	0.11750	0.0286	N	0.02539	-0.55	0.19575	N	0.999964	B	0.27316	0.175	B	0.12156	0.007	T	0.15263	-1.0443	7	.	.	.	.	2.7487	0.05274	0.0:0.2996:0.4009:0.2994	.	2112	E7ESK3	.	P	2112	ENSP00000417498:A2112P;ENSP00000420243:A2112P	.	A	-	1	0	MUC4	196996512	.	.	0.012000	0.15200	0.011000	0.07611	.	.	-2.075000	0.00876	-2.332000	0.00249	GCT		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	4	0	0	0	0.115264	0	2	4				
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3																			5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		3	102	0	0	0	0.150653	0	3	102				
CAPNS1	826	broad.mit.edu	37	19	36636739	36636739	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:36636739A>C	ENST00000246533.3	+	7	1086	c.488A>C	c.(487-489)gAa>gCa	p.E163A	CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Missense_Mutation_p.E133A|CAPNS1_ENST00000588815.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000588780.1_Missense_Mutation_p.E173A|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Missense_Mutation_p.E163A	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	163	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCTTTGAGGAATTCAAGTAC	0.532																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(487-489)gAa>gCa		calpain, small subunit 1							108.0	92.0	97.0					19																	36636739		2203	4300	6503	SO:0001583	missense	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36636739A>C	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.488A>C	19.37:g.36636739A>C	ENSP00000246533:p.Glu163Ala					CAPNS1_ENST00000588815.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000587718.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000589146.1_Intron|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Missense_Mutation_p.E133A|CAPNS1_ENST00000588780.1_Missense_Mutation_p.E173A	p.E163A	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		7	1086	+	Esophageal squamous(110;0.162)		163			EF-hand 2.		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	ENST00000246533.3	37	c.488A>C	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	a	25.0	4.594134	0.86953	.	.	ENSG00000126247	ENST00000246533	D	0.90504	-2.68	5.19	5.19	0.71726	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98206	1.0470	10	0.72032	D	0.01	.	13.2811	0.60214	1.0:0.0:0.0:0.0	.	163	P04632	CPNS1_HUMAN	A	163	ENSP00000246533:E163A	ENSP00000246533:E163A	E	+	2	0	CAPNS1	41328579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.474000	0.90413	2.086000	0.62901	0.459000	0.35465	GAA		0.532	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			38	69	0	0	0	0.117977	0	38	69				
MMP16	4325	broad.mit.edu	37	8	89058941	89058941	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr8:89058941C>T	ENST00000286614.6	-	9	1726	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	482					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TTCAGGGATCCCTTTCCAGAC	0.373																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1444-1446)gGg>gAg		matrix metallopeptidase 16 (membrane-inserted)							174.0	162.0	166.0					8																	89058941		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89058941C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1445G>A	8.37:g.89058941C>T	ENSP00000286614:p.Gly482Glu						p.G482E	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			9	1726	-			482			Hemopexin-like 3.		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1445G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297149	0.95574	.	.	ENSG00000156103	ENST00000286614	T	0.04156	3.69	5.82	5.82	0.92795	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.63501	-0.6623	10	0.87932	D	0	.	20.0856	0.97800	0.0:1.0:0.0:0.0	.	482	P51512	MMP16_HUMAN	E	482	ENSP00000286614:G482E	ENSP00000286614:G482E	G	-	2	0	MMP16	89128057	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	7.772000	0.85439	2.734000	0.93682	0.655000	0.94253	GGG		0.373	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		7	75	0	0	0	0.058154	0	7	75				
PTEN	5728	broad.mit.edu	37	10	89692849	89692849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr10:89692849G>A	ENST00000371953.3	+	5	1690	c.333G>A	c.(331-333)tgG>tgA	p.W111*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	111	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTGACCAATGGCTAAGTGAAG	0.393		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		50	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(331-333)tgG>tgA		phosphatase and tensin homolog							127.0	118.0	121.0					10																	89692849		2203	4297	6500	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692849G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.333G>A	10.37:g.89692849G>A	ENSP00000361021:p.Trp111*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.W111*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1690	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	111			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.333G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	48	14.202966	0.99784	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.635	18.4584	0.90729	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	.	W	+	3	0	PTEN	89682829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.425000	0.97467	2.318000	0.78349	0.655000	0.94253	TGG		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		19	86	0	0	0	0.055883	0	19	86				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		5	212	0	0	0	0.021553	0	5	212				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	88	0	0	0	0.014758	0	5	88				
TNPO1	3842	broad.mit.edu	37	5	72195834	72195834	+	Splice_Site	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:72195834A>G	ENST00000337273.5	+	21	2766	c.2340A>G	c.(2338-2340)gcA>gcG	p.A780A	TNPO1_ENST00000523768.1_Splice_Site_p.A730A|TNPO1_ENST00000506351.2_Splice_Site_p.A772A|TNPO1_ENST00000454282.1_Splice_Site_p.A730A	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	780					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TTACCTTAGCAATAACAATTG	0.398																																						ENST00000337273.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.e21-1		transportin 1							252.0	202.0	219.0					5																	72195834		2203	4300	6503	SO:0001630	splice_region_variant	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72195834A>G	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2339-1A>G	5.37:g.72195834A>G						TNPO1_ENST00000523768.1_Splice_Site_p.A730_splice|TNPO1_ENST00000454282.1_Splice_Site_p.A730_splice|TNPO1_ENST00000506351.2_Splice_Site_p.A772_splice	p.A780_splice	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	21	2766	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	780					B4DVC6|Q92957|Q92975	Splice_Site	SNP	ENST00000337273.5	37	c.2338_splice	CCDS43329.1																																																																																				0.398	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	Silent	41	69	0	0	0	0.111260	0	41	69				
PROSER1	80209	broad.mit.edu	37	13	39587196	39587196	+	Silent	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr13:39587196G>A	ENST00000352251.3	-	11	3026	c.2193C>T	c.(2191-2193)acC>acT	p.T731T	PROSER1_ENST00000350125.3_Silent_p.T709T|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	731	Ser-rich.																AGGTGGCAGCGGTAGATGAGG	0.498																																						ENST00000352251.3																			0											c.(2191-2193)acC>acT		proline and serine rich 1							178.0	191.0	186.0					13																	39587196		2203	4300	6503	SO:0001819	synonymous_variant	80209							g.chr13:39587196G>A	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2193C>T	13.37:g.39587196G>A						PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Silent_p.T709T	p.T731T	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN			11	3026	-			731			Ser-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	c.2193C>T	CCDS9368.2																																																																																				0.498	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		11	171	0	0	0	0.093190	0	11	171				
KIAA1804	84451	broad.mit.edu	37	1	233518097	233518097	+	Silent	SNP	C	C	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:233518097C>G	ENST00000366624.3	+	10	3012	c.2751C>G	c.(2749-2751)ctC>ctG	p.L917L	MLK4_ENST00000366622.1_Silent_p.L363L	NM_032435.2	NP_115811.2																					CACTGCCACTCTGCCCCTCAC	0.532																																						ENST00000366624.3																			0											c.(2749-2751)ctC>ctG									76.0	72.0	74.0					1																	233518097		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:233518097C>G																												ENST00000366624.3:c.2751C>G	1.37:g.233518097C>G						MLK4_ENST00000366622.1_Silent_p.L363L	p.L917L	NM_032435.2	NP_115811.2					10	3012	+									Silent	SNP	ENST00000366624.3	37	c.2751C>G	CCDS1598.1																																																																																				0.532	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			3	113	0	0	0	0.150653	0	3	113				
RELA	5970	broad.mit.edu	37	11	65423213	65423213	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:65423213G>A	ENST00000406246.3	-	10	1240	c.979C>T	c.(979-981)Cca>Tca	p.P327S	RELA_ENST00000308639.9_Missense_Mutation_p.P324S|RELA_ENST00000525693.1_Missense_Mutation_p.P327S	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	327					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CGTCGAGGTGGAGGCCGGGGG	0.622																																						ENST00000525693.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(979-981)Cca>Tca		v-rel avian reticuloendotheliosis viral oncogene homolog A							100.0	97.0	98.0					11																	65423213		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65423213G>A	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.979C>T	11.37:g.65423213G>A	ENSP00000384273:p.Pro327Ser					RELA_ENST00000308639.9_Missense_Mutation_p.P324S|RELA_ENST00000406246.3_Missense_Mutation_p.P327S	p.P327S			Q04206	TF65_HUMAN			10	1041	-			327					Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.979C>T	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206647	0.39003	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.61	1.52	0.23074	.	0.780131	0.11630	N	0.544854	T	0.26048	0.0635	N	0.21448	0.665	0.31636	N	0.648429	B;B;B;B;B;B	0.20988	0.05;0.05;0.007;0.004;0.002;0.002	B;B;B;B;B;B	0.17433	0.018;0.01;0.005;0.002;0.003;0.001	T	0.34304	-0.9834	10	0.08179	T	0.78	-0.3644	4.8112	0.13344	0.2055:0.1764:0.6181:0.0	.	317;314;324;327;338;327	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	S	327;327;324;338;338	ENSP00000384273:P327S;ENSP00000432537:P327S;ENSP00000311508:P324S;ENSP00000433526:P338S	ENSP00000311508:P324S	P	-	1	0	RELA	65179789	0.998000	0.40836	0.975000	0.42487	0.963000	0.63663	1.359000	0.34113	0.351000	0.24027	0.555000	0.69702	CCA		0.622	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		27	34	0	0	0	0.153744	0	27	34				
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1939-1941)aTt>aGt		zinc finger protein 208							108.0	112.0	110.0					19																	22155896		2126	4263	6389	SO:0001583	missense	7757							g.chr19:22155896A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1940T>G	19.37:g.22155896A>C	ENSP00000380315:p.Ile647Ser					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.I647S	NM_007153.3	NP_009084.2					4	2088	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1940T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.852850	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.34472	1.36	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.28385	0.089	T	0.08932	-1.0698	8	0.02654	T	1	.	3.9444	0.09343	0.0966:0.28:0.437:0.1864	.	547	O43345	ZN208_HUMAN	S	647;547	ENSP00000380315:I647S	ENSP00000380315:I647S	I	-	2	0	ZNF208	21947736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.082000	0.00014	-4.116000	0.00072	-4.061000	0.00012	ATT		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	108	0	0	0	0.150653	0	3	108				
RASGEF1C	255426	broad.mit.edu	37	5	179564990	179564990	+	Silent	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:179564990G>A	ENST00000393371.2	-	1	359	c.63C>T	c.(61-63)acC>acT	p.T21T	RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Silent_p.T21T|RASGEF1C_ENST00000522500.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	21					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTGGGCTCGGTGGGGGGTG	0.652																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(61-63)acC>acT		RasGEF domain family, member 1C							51.0	50.0	50.0					5																	179564990		2203	4299	6502	SO:0001819	synonymous_variant	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179564990G>A	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.63C>T	5.37:g.179564990G>A						RASGEF1C_ENST00000361132.4_Silent_p.T21T	p.T21T			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	359	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	21					D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	ENST00000393371.2	37	c.63C>T	CCDS4452.1																																																																																				0.652	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		9	97	0	0	0	0.093190	0	9	97				
KRT6A	3853	broad.mit.edu	37	12	52881722	52881722	+	Missense_Mutation	SNP	C	C	T	rs201432146		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr12:52881722C>T	ENST00000330722.6	-	9	1545	c.1477G>A	c.(1477-1479)Gtc>Atc	p.V493I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	493	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCACTGGAGACGGTGGACTGC	0.612													c|||	1	0.000199681	0.0	0.0014	5008	,	,		21240	0.0		0.0	False		,,,				2504	0.0					ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1477-1479)Gtc>Atc		keratin 6A							70.0	70.0	70.0					12																	52881722		2203	4300	6503	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52881722C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1477G>A	12.37:g.52881722C>T	ENSP00000369317:p.Val493Ile						p.V493I	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1545	-			493			Tail.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.1477G>A	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	5.674	0.309038	0.10733	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.92911	-3.13	5.06	1.09	0.20402	.	0.339004	0.21394	N	0.075243	D	0.88559	0.6469	M	0.73217	2.22	0.27708	N	0.945549	B	0.15719	0.014	B	0.08055	0.003	T	0.73940	-0.3824	10	0.15952	T	0.53	.	10.1679	0.42890	0.0:0.6305:0.0:0.3695	.	493	P02538	K2C6A_HUMAN	I	493;449	ENSP00000369317:V493I	ENSP00000369317:V493I	V	-	1	0	KRT6A	51167989	0.004000	0.15560	0.812000	0.32479	0.177000	0.22998	0.230000	0.17852	-0.001000	0.14495	-0.236000	0.12185	GTC		0.612	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		24	12	0	0	0	0.076483	0	24	12				
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	byFrequency	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:32031962A>G	ENST00000360311.4	+	2	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418													a|||	3114	0.621805	0.9054	0.4813	5008	,	,		19471	0.7599		0.2773	False		,,,				2504	0.5501					ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1390-1392)cAt>cGt		zinc finger protein 860							22.0	58.0	48.0					3																	32031962		627	1568	2195	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031962A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1391A>G	3.37:g.32031962A>G	ENSP00000373274:p.His464Arg						p.H464R	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1940	+			464					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1391A>G	CCDS46784.1	991	0.45375457875457875	324	0.6585365853658537	145	0.4005524861878453	368	0.6433566433566433	154	0.20316622691292877	a	0.169	-1.073378	0.01918	.	.	ENSG00000197385	ENST00000360311	T	0.17370	2.28	0.3	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00399	-1.545	0.80722	P	0.0	B	0.11235	0.004	B	0.04013	0.001	T	0.42032	-0.9475	7	.	.	.	.	4.0852	0.09943	0.2146:0.4157:0.3696:0.0	rs1808125;rs60384157	464	A6NHJ4	ZN860_HUMAN	R	464	ENSP00000373274:H464R	.	H	+	2	0	ZNF860	32006966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.083000	0.03397	-3.961000	0.00087	-3.988000	0.00014	CAT		0.418	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			5	130	0	0	0	0.029380	0	5	130				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G	p.E557G			Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		3	98	0	0	0	0.115264	0	3	98				
NUMBL	9253	broad.mit.edu	37	19	41174032	41174032	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:41174032A>G	ENST00000252891.4	-	10	1338	c.1171T>C	c.(1171-1173)Tgg>Cgg	p.W391R	NUMBL_ENST00000598779.1_Missense_Mutation_p.W350R|NUMBL_ENST00000540131.1_Missense_Mutation_p.W350R	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	391					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GGCTCACCCCAGGCAGAAGTC	0.652																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(1171-1173)Tgg>Cgg		numb homolog (Drosophila)-like							10.0	12.0	11.0					19																	41174032		2192	4276	6468	SO:0001583	missense	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41174032A>G	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1171T>C	19.37:g.41174032A>G	ENSP00000252891:p.Trp391Arg					NUMBL_ENST00000540131.1_Missense_Mutation_p.W350R|NUMBL_ENST00000598779.1_Missense_Mutation_p.W350R	p.W391R	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		10	1338	-			391					Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	c.1171T>C	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	A	7.698	0.692410	0.15039	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.59772	0.24;0.28	4.61	4.61	0.57282	.	0.204155	0.45606	D	0.000356	T	0.56077	0.1961	L	0.46157	1.445	0.47698	D	0.999499	D;D	0.54964	0.969;0.969	P;P	0.49276	0.605;0.605	T	0.52909	-0.8512	10	0.24483	T	0.36	-11.5921	13.1072	0.59253	1.0:0.0:0.0:0.0	.	391;391	A8K033;Q9Y6R0	.;NUMBL_HUMAN	R	391;350	ENSP00000252891:W391R;ENSP00000442759:W350R	ENSP00000252891:W391R	W	-	1	0	NUMBL	45865872	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	5.109000	0.64615	1.936000	0.56123	0.459000	0.35465	TGG		0.652	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		2	12	0	0	0	0.115264	0	2	12				
FNDC1	84624	broad.mit.edu	37	6	159636159	159636159	+	Missense_Mutation	SNP	C	C	T	rs202140596		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr6:159636159C>T	ENST00000297267.9	+	5	843	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	FNDC1_ENST00000340366.6_Missense_Mutation_p.R215W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	215	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAGAGATGAACGGACACACGA	0.443																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(643-645)Cgg>Tgg		fibronectin type III domain containing 1							95.0	97.0	96.0					6																	159636159		1900	4118	6018	SO:0001583	missense	84624					extracellular region		g.chr6:159636159C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.643C>T	6.37:g.159636159C>T	ENSP00000297267:p.Arg215Trp					FNDC1_ENST00000340366.6_Missense_Mutation_p.R215W	p.R215W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	5	843	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	215			Fibronectin type-III 2.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.643C>T	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.278464|3.278464	0.59758|0.59758	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.55052|.	0.54;0.54|.	6.06|6.06	4.24|4.24	0.50183|0.50183	Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.077037|.	0.53938|.	D|.	0.000046|.	T|T	0.36908|0.36908	0.0984|0.0984	L|L	0.39245|0.39245	1.2|1.2	0.34253|0.34253	D|D	0.679045|0.679045	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.995|.	T|T	0.23655|0.23655	-1.0182|-1.0182	10|5	0.87932|.	D|.	0|.	-22.1651|-22.1651	14.254|14.254	0.66038|0.66038	0.2796:0.7204:0.0:0.0|0.2796:0.7204:0.0:0.0	.|.	215;215|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	W|M	215|173	ENSP00000297267:R215W;ENSP00000342460:R215W|.	ENSP00000297267:R215W|.	R|T	+|+	1|2	2|0	FNDC1|FNDC1	159556147|159556147	0.843000|0.843000	0.29541|0.29541	0.961000|0.961000	0.40146|0.40146	0.974000|0.974000	0.67602|0.67602	0.805000|0.805000	0.27112|0.27112	0.830000|0.830000	0.34757|0.34757	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.443	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		4	108	0	0	0	0.150653	0	4	108				
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469). {ECO:0000305}.	transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393																																						ENST00000300619.7																			1	Substitution - Missense(1)	p.R333H(1)	large_intestine(1)								c.(997-999)cGt>cAt		zinc finger protein 91							72.0	76.0	75.0					19																	23544783		2120	4254	6374	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544783C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.998G>A	19.37:g.23544783C>T	ENSP00000300619:p.Arg333His					ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	p.R333H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1203	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	333	R -> H (in Ref. 1; AAA59469).				A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.998G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075438	0.08485	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17854	2.25;2.25	1.97	-3.94	0.04130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07279	0.0184	N	0.20845	0.615	0.09310	N	1	P;D	0.61080	0.566;0.989	B;B	0.41988	0.043;0.372	T	0.25257	-1.0137	9	0.14252	T	0.57	.	3.5074	0.07696	0.1773:0.4543:0.0:0.3684	rs410211	301;333	Q05481-2;Q05481	.;ZNF91_HUMAN	H	333;301	ENSP00000300619:R333H;ENSP00000380272:R301H	ENSP00000300619:R333H	R	-	2	0	ZNF91	23336623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.928000	0.03761	0.162000	0.16502	CGT		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		5	152	0	0	0	0.021553	0	5	152				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		7	148	0	0	0	0.038147	0	7	148				
IFITM1	8519	broad.mit.edu	37	11	314253	314253	+	Missense_Mutation	SNP	A	A	G	rs201402251		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:314253A>G	ENST00000408968.3	+	1	401	c.83A>G	c.(82-84)cAc>cGc	p.H28R	IFITM1_ENST00000328221.5_Missense_Mutation_p.H28R|IFITM1_ENST00000528780.1_Missense_Mutation_p.H28R	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	28					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCAACATCCACAGCGAGACC	0.582																																						ENST00000408968.3																			0				large_intestine(1)|lung(3)	4						c.(82-84)cAc>cGc		interferon induced transmembrane protein 1							114.0	120.0	118.0					11																	314253		2043	4176	6219	SO:0001583	missense	8519				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	g.chr11:314253A>G	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.83A>G	11.37:g.314253A>G	ENSP00000386187:p.His28Arg					IFITM1_ENST00000528780.1_Missense_Mutation_p.H28R|IFITM1_ENST00000328221.5_Missense_Mutation_p.H28R	p.H28R	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	401	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	28					Q15322|Q53XZ0	Missense_Mutation	SNP	ENST00000408968.3	37	c.83A>G	CCDS41584.1	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.432268	0.01108	.	.	ENSG00000185885	ENST00000528780;ENST00000328221;ENST00000408968;ENST00000452428	D;D;D	0.85013	-1.93;-1.93;-1.93	3.14	-6.28	0.02020	.	0.896444	0.09111	N	0.847118	T	0.63082	0.2481	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.52881	-0.8516	10	0.13108	T	0.6	.	7.7417	0.28845	0.1721:0.4097:0.4181:0.0	.	28	P13164	IFM1_HUMAN	R	28;28;28;33	ENSP00000437057:H28R;ENSP00000330825:H28R;ENSP00000386187:H28R	ENSP00000330825:H28R	H	+	2	0	IFITM1	304253	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-2.626000	0.00874	-2.029000	0.00930	0.172000	0.16884	CAC		0.582	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641		5	137	0	0	0	0.021553	0	5	137				
CDC7	8317	broad.mit.edu	37	1	91967356	91967356	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:91967356T>A	ENST00000428239.1	+	2	342	c.83T>A	c.(82-84)tTa>tAa	p.L28*	CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	28					cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAAC	0.403																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(82-84)tTa>tAa		cell division cycle 7							89.0	96.0	94.0					1																	91967356		2203	4300	6503	SO:0001587	stop_gained	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91967356T>A	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.83T>A	1.37:g.91967356T>A	ENSP00000393139:p.Leu28*					CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*|CDC7_ENST00000497611.1_3'UTR	p.L28*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	2	342	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	28					D3DT31|O00558|Q5T5U5	Nonsense_Mutation	SNP	ENST00000428239.1	37	c.83T>A	CCDS734.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.919905	0.73098	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	.	.	.	5.22	2.9	0.33743	.	1.340040	0.04577	N	0.394259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7639	5.0268	0.14389	0.0:0.1687:0.1674:0.6639	.	.	.	.	X	28	.	ENSP00000234626:L28X	L	+	2	0	CDC7	91739944	0.004000	0.15560	0.151000	0.22473	0.174000	0.22865	0.295000	0.19065	0.391000	0.25143	-0.346000	0.07831	TTA		0.403	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		4	87	0	0	0	0.014758	0	4	87				
OR10K1	391109	broad.mit.edu	37	1	158435743	158435743	+	Missense_Mutation	SNP	G	G	A	rs571768202		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:158435743G>A	ENST00000289451.2	+	1	472	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R131H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AACCCACTGCGCTACTCAGTG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		21651	0.0		0.0	False		,,,				2504	0.001					ENST00000289451.2																			1	Substitution - Missense(1)	p.R131H(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(391-393)cGc>cAc		olfactory receptor, family 10, subfamily K, member 1							217.0	202.0	207.0					1																	158435743		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435743G>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.392G>A	1.37:g.158435743G>A	ENSP00000289451:p.Arg131His						p.R131H	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	472	+	all_hematologic(112;0.0378)		131					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.392G>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	0.675	-0.800257	0.02841	.	.	ENSG00000173285	ENST00000289451	T	0.00669	5.9	4.5	-1.76	0.08006	GPCR, rhodopsin-like superfamily (1);	0.502354	0.16830	N	0.197805	T	0.00178	0.0005	N	0.16862	0.45	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.19976	-1.0289	10	0.08837	T	0.75	.	11.9741	0.53081	0.5943:0.0:0.4057:0.0	.	131	Q8NGX5	O10K1_HUMAN	H	131	ENSP00000289451:R131H	ENSP00000289451:R131H	R	+	2	0	OR10K1	156702367	0.000000	0.05858	0.031000	0.17742	0.007000	0.05969	-0.628000	0.05515	-0.961000	0.03609	-2.049000	0.00408	CGC		0.537	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			5	195	0	0	0	0.014758	0	5	195				
CDC23	8697	broad.mit.edu	37	5	137524750	137524750	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:137524750A>G	ENST00000394886.2	-	16	1741	c.1711T>C	c.(1711-1713)Ttt>Ctt	p.F571L		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	571					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAGGAAAAAGGGAGCAGGC	0.532																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(1711-1713)Ttt>Ctt		cell division cycle 23							204.0	185.0	191.0					5																	137524750		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137524750A>G	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1711T>C	5.37:g.137524750A>G	ENSP00000378350:p.Phe571Leu						p.F571L	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		16	1741	-			571					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.1711T>C	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	A	7.213	0.595865	0.13875	.	.	ENSG00000094880	ENST00000394886	T	0.40225	1.04	5.29	5.29	0.74685	.	0.117044	0.64402	D	0.000014	T	0.16085	0.0387	N	0.00926	-1.1	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.18053	-1.0349	10	0.10111	T	0.7	-20.9996	15.3818	0.74664	1.0:0.0:0.0:0.0	.	571	Q9UJX2	CDC23_HUMAN	L	571	ENSP00000378350:F571L	ENSP00000378350:F571L	F	-	1	0	CDC23	137552649	1.000000	0.71417	0.996000	0.52242	0.358000	0.29455	4.545000	0.60698	2.225000	0.72522	0.379000	0.24179	TTT		0.532	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			3	89	0	0	0	0.150653	0	3	89				
LGSN	51557	broad.mit.edu	37	6	63995626	63995626	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr6:63995626G>T	ENST00000370657.4	-	3	229	c.196C>A	c.(196-198)Cca>Aca	p.P66T	LGSN_ENST00000370658.5_Missense_Mutation_p.P66T			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	66					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGTTGAGGTGGGGTCAAAATT	0.438																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(196-198)Cca>Aca		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						104.0	96.0	99.0					6																	63995626		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63995626G>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.196C>A	6.37:g.63995626G>T	ENSP00000359691:p.Pro66Thr					LGSN_ENST00000370657.4_Missense_Mutation_p.P66T	p.P66T	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			3	229	-			66					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.196C>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	2.176	-0.388613	0.04932	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.23147	1.92;2.01	5.61	-0.0578	0.13800	.	0.859656	0.10751	N	0.638282	T	0.05364	0.0142	L	0.43152	1.355	0.09310	N	1	B;B	0.18610	0.029;0.0	B;B	0.17722	0.019;0.002	T	0.42799	-0.9430	10	0.18710	T	0.47	0.6153	2.8202	0.05469	0.0977:0.1485:0.3246:0.4292	.	66;66	Q5TDP6-2;Q5TDP6	.;LGSN_HUMAN	T	66	ENSP00000359692:P66T;ENSP00000359691:P66T	ENSP00000359691:P66T	P	-	1	0	LGSN	64053585	0.638000	0.27225	0.012000	0.15200	0.353000	0.29299	0.793000	0.26944	-0.243000	0.09653	-0.274000	0.10170	CCA		0.438	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		3	65	1	0	0.00024832	0.150653	0.000255961	3	65				
OR5L2	26338	broad.mit.edu	37	11	55594795	55594795	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:55594795T>C	ENST00000378397.1	+	1	101	c.101T>C	c.(100-102)aTc>aCc	p.I34T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCCTTCTCATCTATGGAGTC	0.517										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(100-102)aTc>aCc		olfactory receptor, family 5, subfamily L, member 2							272.0	245.0	254.0					11																	55594795		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594795T>C	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.101T>C	11.37:g.55594795T>C	ENSP00000367650:p.Ile34Thr	HNSCC(27;0.073)					p.I34T	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	101	+		all_epithelial(135;0.208)	34					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.101T>C	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	16.54	3.152332	0.57259	.	.	ENSG00000205030	ENST00000378397	T	0.00441	7.41	5.13	3.99	0.46301	.	0.130327	0.34932	N	0.003577	T	0.00608	0.0020	L	0.53729	1.69	0.28857	N	0.895701	D	0.62365	0.991	P	0.56700	0.804	T	0.46317	-0.9200	10	0.87932	D	0	-24.097	8.5546	0.33474	0.0:0.1618:0.0:0.8382	.	34	Q8NGL0	OR5L2_HUMAN	T	34	ENSP00000367650:I34T	ENSP00000367650:I34T	I	+	2	0	OR5L2	55351371	0.001000	0.12720	0.975000	0.42487	0.884000	0.51177	0.488000	0.22371	0.914000	0.36822	0.509000	0.49947	ATC		0.517	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		37	291	0	0	0	0.098360	0	37	291				
NTNG1	22854	broad.mit.edu	37	1	108023234	108023234	+	Splice_Site	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:108023234G>A	ENST00000370068.1	+	8	2238	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	NTNG1_ENST00000370066.1_Splice_Site_p.A405A|NTNG1_ENST00000370071.2_Splice_Site_p.A405A|NTNG1_ENST00000370074.4_Splice_Site_p.T363T|NTNG1_ENST00000370070.2_Splice_Site_p.A385A|NTNG1_ENST00000370072.3_Splice_Site_p.A419A|NTNG1_ENST00000370065.1_Splice_Site_p.A419A|NTNG1_ENST00000370073.2_Splice_Site_p.P464P|NTNG1_ENST00000370067.1_Splice_Site_p.A385A|NTNG1_ENST00000370061.3_Splice_Site_p.P430P|NTNG1_ENST00000542803.1_Splice_Site_p.P464P			Q9Y2I2	NTNG1_HUMAN	netrin G1	464	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATTCTGCAGCGAATGTCTGCG	0.572																																						ENST00000370067.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.e7-1		netrin G1							18.0	21.0	20.0					1																	108023234		2197	4296	6493	SO:0001630	splice_region_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:108023234G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1391-1G>A	1.37:g.108023234G>A						NTNG1_ENST00000370068.1_Splice_Site_p.P464_splice|NTNG1_ENST00000542803.1_Splice_Site_p.P464_splice|NTNG1_ENST00000370071.2_Splice_Site_p.A405_splice|NTNG1_ENST00000370073.2_Splice_Site_p.P464_splice|NTNG1_ENST00000370072.3_Splice_Site_p.A419_splice|NTNG1_ENST00000370074.4_Splice_Site_p.T363_splice|NTNG1_ENST00000370070.2_Splice_Site_p.A385_splice|NTNG1_ENST00000370061.3_Splice_Site_p.P430_splice|NTNG1_ENST00000370065.1_Splice_Site_p.A419_splice|NTNG1_ENST00000370066.1_Splice_Site_p.A405_splice	p.A385_splice			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	7	1782	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	393			Laminin EGF-like 2.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Splice_Site	SNP	ENST00000370068.1	37	c.1153_splice	CCDS44180.1																																																																																				0.572	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	Silent	10	34	0	0	0	0.069234	0	10	34				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	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	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	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.chr17:7577538C>T	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	p.R248Q	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	875	-		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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	21	0	0	0	0.153744	0	28	21				
SCN3B	55800	broad.mit.edu	37	11	123516294	123516294	+	Splice_Site	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:123516294C>T	ENST00000392770.2	-	2	1022		c.e2+1		SCN3B_ENST00000530277.1_Splice_Site|SCN3B_ENST00000299333.3_Splice_Site	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit						atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCTAACATACAAGGAAATCT	0.572																																						ENST00000392770.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.e2+1		sodium channel, voltage-gated, type III, beta subunit							132.0	141.0	138.0					11																	123516294		2202	4299	6501	SO:0001630	splice_region_variant	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123516294C>T	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.219+1G>A	11.37:g.123516294C>T						SCN3B_ENST00000530277.1_Splice_Site|SCN3B_ENST00000299333.3_Splice_Site		NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	2	1022	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)						A5H1I5|Q17RL3|Q9ULR2	Splice_Site	SNP	ENST00000392770.2	37		CCDS8442.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681436	0.88542	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836;ENST00000528267	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4182	0.99029	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN3B	123021504	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.216000	0.58540	2.820000	0.97059	0.609000	0.83330	.		0.572	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400	Intron	48	89	0	0	0	0.139131	0	48	89				
PHKA1	5255	broad.mit.edu	37	X	71840634	71840634	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:71840634A>T	ENST00000373542.4	-	19	2237	c.2078T>A	c.(2077-2079)gTg>gAg	p.V693E	PHKA1_ENST00000339490.3_Missense_Mutation_p.V693E|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.V693E|PHKA1_ENST00000373545.3_Intron	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	693					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGTTGTTTGCACAGCAGCTTG	0.517																																						ENST00000339490.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2077-2079)gTg>gAg		phosphorylase kinase, alpha 1 (muscle)							151.0	102.0	119.0					X																	71840634		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71840634A>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2078T>A	X.37:g.71840634A>T	ENSP00000362643:p.Val693Glu					PHKA1_ENST00000373539.3_Missense_Mutation_p.V693E|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000373542.4_Missense_Mutation_p.V693E	p.V693E	NM_001122670.1	NP_001116142.1	P46020	KPB1_HUMAN			19	2378	-	Renal(35;0.156)		693					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.2078T>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.113578	0.37339	.	.	ENSG00000067177	ENST00000373542;ENST00000339490;ENST00000373539	D;D;D	0.90676	-2.71;-2.71;-2.7	5.58	4.38	0.52667	Glycoside hydrolase 15-related (1);	0.180712	0.49916	D	0.000137	D	0.83266	0.5217	L	0.33710	1.025	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.15052	0.011;0.012	T	0.73493	-0.3965	10	0.20046	T	0.44	.	8.9849	0.35988	0.832:0.0:0.0:0.168	.	693;693	P46020-2;P46020	.;KPB1_HUMAN	E	693	ENSP00000362643:V693E;ENSP00000342469:V693E;ENSP00000362640:V693E	ENSP00000342469:V693E	V	-	2	0	PHKA1	71757359	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.460000	0.60108	0.690000	0.31570	0.486000	0.48141	GTG		0.517	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			4	45	0	0	0	0.029380	0	4	45				
UBE2V1	7335	broad.mit.edu	37	20	48713342	48713342	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr20:48713342C>A	ENST00000371674.3	-	2	82	c.38G>T	c.(37-39)cGc>cTc	p.R13L	UBE2V1_ENST00000420027.2_Intron|UBE2V1_ENST00000415862.2_Intron|UBE2V1_ENST00000396059.3_Intron|UBE2V1_ENST00000340309.3_Missense_Mutation_p.R36L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.R236L|TMEM189_ENST00000557021.1_Missense_Mutation_p.R236L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.R13L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.R36L	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	13					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			TCGGAAATTGCGAGGGACTTT	0.448																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(706-708)cGc>cTc		transmembrane protein 189							78.0	79.0	79.0					20																	48713342		2203	4300	6503	SO:0001583	missense	387521							g.chr20:48713342C>A	U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.38G>T	20.37:g.48713342C>A	ENSP00000360739:p.Arg13Leu					UBE2V1_ENST00000415862.2_Intron|UBE2V1_ENST00000371677.3_Missense_Mutation_p.R36L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.R13L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.R13L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.R36L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.R236L|UBE2V1_ENST00000396059.3_Intron|UBE2V1_ENST00000420027.2_Intron	p.R236L	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		6	867	-								E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	ENST00000371674.3	37	c.707G>T	CCDS33483.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544333	0.96488	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371657;ENST00000371674;ENST00000340309;ENST00000371677;ENST00000557021	T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19	5.86	5.86	0.93980	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.48767	U	0.000167	T	0.36026	0.0952	M	0.90309	3.105	0.80722	D	1	D;P;P	0.69078	0.997;0.954;0.955	P;P;P	0.61397	0.814;0.888;0.698	T	0.13629	-1.0502	10	0.46703	T	0.11	-11.5502	20.5632	0.99335	0.0:1.0:0.0:0.0	.	236;36;13	G3V2F7;Q13404-7;Q13404	.;.;UB2V1_HUMAN	L	236;13;13;36;36;236	ENSP00000344166:R236L;ENSP00000360720:R13L;ENSP00000360739:R13L;ENSP00000340305:R36L;ENSP00000360742:R36L;ENSP00000450635:R236L	ENSP00000344166:R236L	R	-	2	0	TMEM189-UBE2V1;UBE2V1;TMEM189	48146749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.750000	0.85110	2.937000	0.99478	0.650000	0.86243	CGC		0.448	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988		4	104	1	0	0.150653	0.150653	0.152936	4	104				
DCP2	167227	broad.mit.edu	37	5	112343668	112343668	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:112343668T>C	ENST00000389063.2	+	9	1174	c.976T>C	c.(976-978)Tat>Cat	p.Y326H	DCP2_ENST00000543319.1_Missense_Mutation_p.Y115H|DCP2_ENST00000515408.1_Intron	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	326					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAGAAAACAGTATCAAGATTC	0.343																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(976-978)Tat>Cat		decapping mRNA 2							94.0	92.0	93.0					5																	112343668		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112343668T>C	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.976T>C	5.37:g.112343668T>C	ENSP00000373715:p.Tyr326His					DCP2_ENST00000515408.1_Intron|DCP2_ENST00000543319.1_Missense_Mutation_p.Y115H	p.Y326H	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	9	1174	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	326					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.976T>C	CCDS34210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.34|12.34	1.909053|1.909053	0.33721|0.33721	.|.	.|.	ENSG00000172795|ENSG00000172795	ENST00000513585|ENST00000389063;ENST00000543319	.|T	.|0.42900	.|0.96	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.347271	.|0.29565	.|N	.|0.011792	T|T	0.19765|0.19765	0.0475|0.0475	N|N	0.11560|0.11560	0.145|0.145	0.31164|0.31164	N|N	0.70399|0.70399	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.18840|0.18840	-1.0324|-1.0324	5|10	.|0.15066	.|T	.|0.55	.|.	5.3669|5.3669	0.16119|0.16119	0.197:0.0814:0.0:0.7216|0.197:0.0814:0.0:0.7216	.|.	.|326	.|Q8IU60	.|DCP2_HUMAN	A|H	307|326;115	.|ENSP00000373715:Y326H	.|ENSP00000373715:Y326H	V|Y	+|+	2|1	0|0	DCP2|DCP2	112371567|112371567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.441000|1.441000	0.35035|0.35035	2.136000|2.136000	0.66102|0.66102	0.477000|0.477000	0.44152|0.44152	GTA|TAT		0.343	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		28	41	0	0	0	0.144211	0	28	41				
TRIM42	287015	broad.mit.edu	37	3	140406902	140406902	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:140406902A>G	ENST00000286349.3	+	3	1569	c.1378A>G	c.(1378-1380)Acc>Gcc	p.T460A		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	460	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATCCAGACCACCTACAGGCC	0.577																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1378-1380)Acc>Gcc		tripartite motif containing 42							74.0	58.0	64.0					3																	140406902		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406902A>G	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1378A>G	3.37:g.140406902A>G	ENSP00000286349:p.Thr460Ala						p.T460A	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			3	1569	+			460			COS.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1378A>G	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.106172	0.37145	.	.	ENSG00000155890	ENST00000286349	T	0.37752	1.18	5.63	5.63	0.86233	COS domain (1);	0.580733	0.17344	N	0.177659	T	0.29850	0.0746	N	0.24115	0.695	0.32381	N	0.554565	P	0.49961	0.93	P	0.46110	0.504	T	0.24657	-1.0154	10	0.27082	T	0.32	-14.2668	12.5296	0.56106	1.0:0.0:0.0:0.0	.	460	Q8IWZ5	TRI42_HUMAN	A	460	ENSP00000286349:T460A	ENSP00000286349:T460A	T	+	1	0	TRIM42	141889592	1.000000	0.71417	0.995000	0.50966	0.282000	0.26991	5.763000	0.68818	2.281000	0.76405	0.533000	0.62120	ACC		0.577	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		6	52	0	0	0	0.029380	0	6	52				
ADAMTS18	170692	broad.mit.edu	37	16	77327095	77327095	+	Missense_Mutation	SNP	C	C	T	rs370743740	byFrequency	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr16:77327095C>T	ENST00000282849.5	-	20	3485	c.3067G>A	c.(3067-3069)Gca>Aca	p.A1023T	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1023	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGGGTTTCTGCGGCAGAGCCC	0.562													C|||	6	0.00119808	0.0	0.0	5008	,	,		15228	0.006		0.0	False		,,,				2504	0.0					ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(3067-3069)Gca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 18		C	THR/ALA	1,4395	2.1+/-5.4	0,1,2197	90.0	87.0	88.0		3067	-0.5	0.0	16		88	0,8600		0,0,4300	no	missense	ADAMTS18	NM_199355.2	58	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	1023/1222	77327095	1,12995	2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77327095C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3067G>A	16.37:g.77327095C>T	ENSP00000282849:p.Ala1023Thr						p.A1023T	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			20	3485	-			1023			TSP type-1 3.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.3067G>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432950	0.25813	2.27E-4	0.0	ENSG00000140873	ENST00000282849	T	0.60672	0.17	6.03	-0.519	0.11939	.	0.394048	0.26499	N	0.024034	T	0.30572	0.0769	N	0.17800	0.525	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.18561	0.003;0.022	T	0.06232	-1.0838	10	0.23891	T	0.37	.	0.4633	0.00520	0.2131:0.2963:0.2276:0.263	.	1023;1023	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	T	1023	ENSP00000282849:A1023T	ENSP00000282849:A1023T	A	-	1	0	ADAMTS18	75884596	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.057000	0.14279	-0.279000	0.09167	-1.136000	0.01936	GCA		0.562	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			4	144	0	0	0	0.150653	0	4	144				
SLC37A1	54020	broad.mit.edu	37	21	43967227	43967227	+	Silent	SNP	A	A	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr21:43967227A>C	ENST00000352133.2	+	9	1727	c.745A>C	c.(745-747)Agg>Cgg	p.R249R	SLC37A1_ENST00000398341.3_Silent_p.R249R			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	249					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GAACGACGTCAGGTGCTCCTC	0.552																																						ENST00000352133.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						c.(745-747)Agg>Cgg		solute carrier family 37 (glucose-6-phosphate transporter), member 1							332.0	243.0	273.0					21																	43967227		2203	4300	6503	SO:0001819	synonymous_variant	54020				carbohydrate transport|transmembrane transport	integral to membrane		g.chr21:43967227A>C	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.745A>C	21.37:g.43967227A>C						SLC37A1_ENST00000398341.3_Silent_p.R249R	p.R249R			P57057	GLPT_HUMAN			9	1727	+			249					D3DSJ7|Q9HAQ1	Silent	SNP	ENST00000352133.2	37	c.745A>C	CCDS13689.1																																																																																				0.552	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			27	118	0	0	0	0.153744	0	27	118				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		7	152	0	0	0	0.038147	0	7	152				
ZNF611	81856	broad.mit.edu	37	19	53209167	53209167	+	Missense_Mutation	SNP	G	G	A	rs148756171		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:53209167G>A	ENST00000319783.1	-	7	1457	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000453741.2_Missense_Mutation_p.R312W|ZNF611_ENST00000540744.1_Missense_Mutation_p.R381W|ZNF611_ENST00000543227.1_Missense_Mutation_p.R381W|ZNF611_ENST00000595798.1_Missense_Mutation_p.R312W|ZNF611_ENST00000602162.1_Missense_Mutation_p.R312W	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GTTGATTTCCGACTGAAAACT	0.383																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1141-1143)Cgg>Tgg		zinc finger protein 611		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4403		0,1,2201	54.0	55.0	54.0		1141,1141,934,1141	1.5	0.0	19	dbSNP_134	54	0,8598		0,0,4299	no	missense,missense,missense,missense	ZNF611	NM_001161499.1,NM_001161500.1,NM_001161501.1,NM_030972.3	101,101,101,101	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	381/706,381/706,312/637,381/706	53209167	1,13001	2202	4299	6501	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53209167G>A	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1141C>T	19.37:g.53209167G>A	ENSP00000322427:p.Arg381Trp					ZNF611_ENST00000540744.1_Missense_Mutation_p.R381W|ZNF611_ENST00000319783.1_Missense_Mutation_p.R381W|ZNF611_ENST00000453741.2_Missense_Mutation_p.R312W|ZNF611_ENST00000602162.1_Missense_Mutation_p.R312W|ZNF611_ENST00000595798.1_Missense_Mutation_p.R312W	p.R381W	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	1415	-			381					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1141C>T	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	10.73	1.433272	0.25813	2.27E-4	0.0	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.19806	2.37;2.37;2.12;2.37	1.47	1.47	0.22746	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19927	0.0479	M	0.61703	1.905	0.09310	N	1	B	0.20459	0.045	B	0.16289	0.015	T	0.19095	-1.0316	9	0.32370	T	0.25	.	7.4554	0.27264	0.0:0.2728:0.7272:0.0	.	381	Q8N823	ZN611_HUMAN	W	381;381;312;381	ENSP00000437616:R381W;ENSP00000439211:R381W;ENSP00000443505:R312W;ENSP00000322427:R381W	ENSP00000322427:R381W	R	-	1	2	ZNF611	57900979	0.000000	0.05858	0.022000	0.16811	0.097000	0.18754	-2.038000	0.01419	0.788000	0.33755	0.194000	0.17425	CGG		0.383	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		6	87	0	0	0	0.021553	0	6	87				
CYYR1	116159	broad.mit.edu	37	21	27840931	27840931	+	Silent	SNP	G	G	A	rs576432831		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr21:27840931G>A	ENST00000299340.4	-	4	697	c.354C>T	c.(352-354)caC>caT	p.H118H	AP001596.6_ENST00000444306.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001596.6_ENST00000421771.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	118						integral component of membrane (GO:0016021)		p.H118H(1)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						TCTCGTGGTCGTGACCGTAGG	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19304	0.0		0.0	False		,,,				2504	0.0					ENST00000299340.4																			1	Substitution - coding silent(1)	p.H118H(1)	pancreas(1)	large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						c.(352-354)caC>caT		cysteine/tyrosine-rich 1							113.0	92.0	99.0					21																	27840931		2203	4300	6503	SO:0001819	synonymous_variant	116159					integral to membrane		g.chr21:27840931G>A	AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"""cysteine and tyrosine-rich 1"""	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.354C>T	21.37:g.27840931G>A						CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000421771.1_RNA|AP001596.6_ENST00000429340.1_RNA|AP001596.6_ENST00000444306.1_RNA|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA	p.H118H	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN			4	697	-			118					A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Silent	SNP	ENST00000299340.4	37	c.354C>T	CCDS13578.1																																																																																				0.527	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171654.2	NM_052954		45	67	0	0	0	0.139131	0	45	67				
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303																																						ENST00000582557.1																			0																																																			0							g.chr17:29061941T>C																													17.37:g.29061941T>C														0	861	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.303	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			4	96	0	0	0	0.150653	0	4	96				
IGHG1	3500	broad.mit.edu	37	14	106208446	106208446	+	RNA	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr14:106208446C>T	ENST00000390548.2	-	0	453							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TCAGGGTCTTCGTGGCTCACG	0.597																																						ENST00000390548.2																			0																				136.0	123.0	128.0					14																	106208446		2136	4223	6359			0							g.chr14:106208446C>T	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208446C>T														0	453	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.597	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		6	148	0	0	0	0.038147	0	6	148				
RAG1	5896	broad.mit.edu	37	11	36597480	36597480	+	Missense_Mutation	SNP	G	G	A	rs145772007	byFrequency	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:36597480G>A	ENST00000299440.5	+	2	2738	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	876					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AATTCCTTCCGAGGAGAGGCA	0.483									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2626-2628)Gag>Aag		recombination activating gene 1		G	LYS/GLU	1,4403	2.1+/-5.4	0,1,2201	138.0	132.0	134.0		2626	-2.2	0.0	11	dbSNP_134	134	3,8593	3.0+/-9.4	0,3,4295	yes	missense	RAG1	NM_000448.2	56	0,4,6496	AA,AG,GG		0.0349,0.0227,0.0308	benign	876/1044	36597480	4,12996	2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597480G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2626G>A	11.37:g.36597480G>A	ENSP00000299440:p.Glu876Lys						p.E876K	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	2738	+	all_lung(20;0.226)	all_hematologic(20;0.107)	876					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2626G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	8.542	0.873497	0.17322	2.27E-4	3.49E-4	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.90955	-2.76;-2.76	5.94	-2.16	0.07080	.	0.396580	0.26719	N	0.022853	D	0.88676	0.6501	M	0.84948	2.725	0.19945	N	0.99994	B	0.06786	0.001	B	0.08055	0.003	T	0.79567	-0.1750	10	0.62326	D	0.03	.	8.8315	0.35087	0.1765:0.4075:0.416:0.0	.	876	P15918	RAG1_HUMAN	K	876	ENSP00000434610:E876K;ENSP00000299440:E876K	ENSP00000299440:E876K	E	+	1	0	RAG1	36554056	0.916000	0.31088	0.000000	0.03702	0.249000	0.25844	1.319000	0.33655	-0.692000	0.05128	-0.151000	0.13558	GAG		0.483	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		45	90	0	0	0	0.139131	0	45	90				
DLG1	1739	broad.mit.edu	37	3	196867046	196867046	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:196867046G>C	ENST00000419354.1	-	9	1063	c.777C>G	c.(775-777)atC>atG	p.I259M	DLG1_ENST00000452595.1_Missense_Mutation_p.I143M|DLG1_ENST00000450955.1_Missense_Mutation_p.I226M|DLG1_ENST00000357674.4_Missense_Mutation_p.I226M|DLG1_ENST00000448528.2_Missense_Mutation_p.I259M|DLG1_ENST00000443183.1_Missense_Mutation_p.I143M|DLG1_ENST00000422288.1_Missense_Mutation_p.I208M|DLG1_ENST00000346964.2_Missense_Mutation_p.I259M|DLG1_ENST00000392382.2_Missense_Mutation_p.I226M|DLG1_ENST00000314062.3_Missense_Mutation_p.I208M			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	259	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTCCCCCTGTGATAATTTTGG	0.443																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(775-777)atC>atG		discs, large homolog 1 (Drosophila)							138.0	133.0	135.0					3																	196867046		2203	4300	6503	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196867046G>C	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.777C>G	3.37:g.196867046G>C	ENSP00000407531:p.Ile259Met					DLG1_ENST00000357674.4_Missense_Mutation_p.I226M|DLG1_ENST00000452595.1_Missense_Mutation_p.I143M|DLG1_ENST00000443183.1_Missense_Mutation_p.I143M|DLG1_ENST00000448528.2_Missense_Mutation_p.I259M|DLG1_ENST00000450955.1_Missense_Mutation_p.I226M|DLG1_ENST00000422288.1_Missense_Mutation_p.I208M|DLG1_ENST00000392382.2_Missense_Mutation_p.I226M|DLG1_ENST00000419354.1_Missense_Mutation_p.I259M|DLG1_ENST00000314062.3_Missense_Mutation_p.I208M	p.I259M	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	9	966	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	259			PDZ 1.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.777C>G	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201117	0.58234	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466;ENST00000453607	T;T;T;T;T;T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81	5.47	3.29	0.37713	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	M	0.75615	2.305	0.49130	D	0.999759	P;D;D;D;D;D;D	0.89917	0.867;1.0;0.999;0.999;1.0;0.999;1.0	P;D;D;D;D;D;D	0.91635	0.732;0.996;0.999;0.999;0.999;0.988;0.999	T	0.32375	-0.9909	10	0.33141	T	0.24	.	2.8322	0.05503	0.4315:0.0:0.1388:0.4297	.	226;143;143;143;226;259;259	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	M	259;259;226;259;208;259;143;208;259;143;226;226;68;112	ENSP00000345731:I259M;ENSP00000350303:I226M;ENSP00000321087:I208M;ENSP00000407531:I259M;ENSP00000398939:I143M;ENSP00000413238:I208M;ENSP00000391732:I259M;ENSP00000396658:I143M;ENSP00000376187:I226M;ENSP00000411278:I226M;ENSP00000398702:I68M;ENSP00000412579:I112M	ENSP00000321087:I208M	I	-	3	3	DLG1	198351443	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.757000	0.26433	0.568000	0.29311	0.591000	0.81541	ATC		0.443	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		3	148	0	0	0	0.115264	0	3	148				
TLR7	51284	broad.mit.edu	37	X	12904067	12904067	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:12904067C>T	ENST00000380659.3	+	3	579	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	147					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CAGGGCCTCCCGCCTAGCTTA	0.458																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(439-441)cCg>cTg		toll-like receptor 7	Imiquimod(DB00724)						55.0	56.0	56.0					X																	12904067		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904067C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.440C>T	X.37:g.12904067C>T	ENSP00000370034:p.Pro147Leu						p.P147L	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	579	+			147					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.440C>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.008658	0.54361	.	.	ENSG00000196664	ENST00000380659	T	0.01313	5.02	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.19712	-1.0297	10	0.87932	D	0	.	18.7273	0.91718	0.0:1.0:0.0:0.0	.	147	Q9NYK1	TLR7_HUMAN	L	147	ENSP00000370034:P147L	ENSP00000370034:P147L	P	+	2	0	TLR7	12813988	1.000000	0.71417	0.392000	0.26245	0.026000	0.11368	7.766000	0.85320	2.368000	0.80403	0.589000	0.80489	CCG		0.458	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		39	12	0	0	0	0.092188	0	39	12				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	92	0	0	0	0.047766	0	3	92				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		7	90	0	0	0	0.105934	0	7	90				
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:12155757C>A	ENST00000547628.1	-	4	596	c.459G>T	c.(457-459)agG>agT	p.R153S	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.R200S|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(598-600)agG>agT		zinc finger protein 878							139.0	150.0	146.0					19																	12155757		2165	4283	6448	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155757C>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.459G>T	19.37:g.12155757C>A	ENSP00000447931:p.Arg153Ser					CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	p.R200S			C9JN71	ZN878_HUMAN			5	599	-			153						Missense_Mutation	SNP	ENST00000547628.1	37	c.600G>T	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	c	0.119	-1.128634	0.01756	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.13901	2.55	1.25	-2.51	0.06365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.11427	0.14	0.09310	N	1	B	0.15141	0.012	B	0.18871	0.023	T	0.39840	-0.9594	9	0.02654	T	1	.	3.7988	0.08750	0.3827:0.4258:0.0:0.1915	.	153	C9JN71	ZN878_HUMAN	S	153;200	ENSP00000447931:R153S	ENSP00000447931:R153S	R	-	3	2	AC022415.4;ZNF878	12016757	0.000000	0.05858	0.001000	0.08648	0.669000	0.39330	-2.636000	0.00867	-1.408000	0.02040	0.299000	0.19835	AGG		0.423	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		6	159	1	0	3.09899e-07	0.047766	3.29575e-07	6	159				
CD3EAP	10849	broad.mit.edu	37	19	45911967	45911967	+	Silent	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:45911967G>A	ENST00000309424.3	+	3	1229	c.741G>A	c.(739-741)ccG>ccA	p.P247P	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Silent_p.P249P|ERCC1_ENST00000300853.3_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	247					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGCTGTTCCCGTCCACCACCA	0.522																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(739-741)ccG>ccA		CD3e molecule, epsilon associated protein							69.0	77.0	74.0					19																	45911967		2203	4298	6501	SO:0001819	synonymous_variant	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911967G>A	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.741G>A	19.37:g.45911967G>A						ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Silent_p.P249P|ERCC1_ENST00000300853.3_3'UTR	p.P247P	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1229	+		all_neural(266;0.224)|Ovarian(192;0.231)	247					Q32N11|Q7Z5U2|Q9UPF6	Silent	SNP	ENST00000309424.3	37	c.741G>A	CCDS12661.1																																																																																				0.522	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		47	67	0	0	0	0.139131	0	47	67				
ROR1	4919	broad.mit.edu	37	1	64515405	64515405	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:64515405C>T	ENST00000371079.1	+	3	581	c.206C>T	c.(205-207)aCg>aTg	p.T69M	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.T69M	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	69	Ig-like C2-type.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.T69M(2)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AACATCACCACGTCTCTGGGC	0.547																																						ENST00000371079.1																			2	Substitution - Missense(2)	p.T69M(2)	ovary(1)|breast(1)	breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(205-207)aCg>aTg		receptor tyrosine kinase-like orphan receptor 1							139.0	134.0	136.0					1																	64515405		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64515405C>T	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.206C>T	1.37:g.64515405C>T	ENSP00000360120:p.Thr69Met					ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.T69M	p.T69M	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			3	581	+			69			Ig-like C2-type.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.206C>T	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134388	0.77662	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.67345	-0.26;-0.26	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000470	T	0.72550	0.3474	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.74674	0.881;0.984	T	0.72293	-0.4336	10	0.52906	T	0.07	.	20.062	0.97678	0.0:1.0:0.0:0.0	.	69;69	Q01973;Q66K77	ROR1_HUMAN;.	M	69;69;72	ENSP00000360121:T69M;ENSP00000360120:T69M	ENSP00000360120:T69M	T	+	2	0	ROR1	64287993	0.998000	0.40836	0.972000	0.41901	0.961000	0.63080	3.803000	0.55560	2.730000	0.93505	0.563000	0.77884	ACG		0.547	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		23	141	0	0	0	0.091800	0	23	141				
EFHD1	80303	broad.mit.edu	37	2	233546303	233546303	+	Silent	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:233546303C>T	ENST00000264059.3	+	4	1071	c.594C>T	c.(592-594)gcC>gcT	p.A198A	EFHD1_ENST00000409708.1_Silent_p.A86A|EFHD1_ENST00000409613.1_Silent_p.A102A|snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000410095.1_Silent_p.A86A	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	198					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGGTCCAAGCCTTGTCATCGG	0.572																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(592-594)gcC>gcT		EF-hand domain family, member D1							163.0	149.0	154.0					2																	233546303		2203	4300	6503	SO:0001819	synonymous_variant	80303						calcium ion binding|protein binding	g.chr2:233546303C>T		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.594C>T	2.37:g.233546303C>T						EFHD1_ENST00000409613.1_Silent_p.A102A|EFHD1_ENST00000410095.1_Silent_p.A86A|EFHD1_ENST00000409708.1_Silent_p.A86A	p.A198A	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	4	1071	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	198					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Silent	SNP	ENST00000264059.3	37	c.594C>T	CCDS2497.1																																																																																				0.572	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		79	130	0	0	0	0.139131	0	79	130				
PCDHB13	56123	broad.mit.edu	37	5	140595972	140595972	+	Silent	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:140595972A>G	ENST00000341948.4	+	1	2464	c.2277A>G	c.(2275-2277)tcA>tcG	p.S759S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	759					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGAGGCTCAGGGACCAATG	0.552																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(2275-2277)tcA>tcG									120.0	120.0	120.0					5																	140595972		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595972A>G	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2277A>G	5.37:g.140595972A>G							p.S759S	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2464	+			759					A8K9V6	Silent	SNP	ENST00000341948.4	37	c.2277A>G	CCDS4255.1																																																																																				0.552	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		3	127	0	0	0	0.150653	0	3	127				
ANKIB1	54467	broad.mit.edu	37	7	92020490	92020490	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr7:92020490A>G	ENST00000265742.3	+	16	2439	c.2063A>G	c.(2062-2064)gAa>gGa	p.E688G		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	688							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGACCTAGAAATGGTCACT	0.428																																						ENST00000265742.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(2062-2064)gAa>gGa		ankyrin repeat and IBR domain containing 1							78.0	77.0	77.0					7																	92020490		1902	4116	6018	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92020490A>G	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2063A>G	7.37:g.92020490A>G	ENSP00000265742:p.Glu688Gly						p.E688G	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		16	2439	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		688					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2063A>G	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.890410	0.91889	.	.	ENSG00000001629	ENST00000265742	T	0.21932	1.98	5.34	5.34	0.76211	.	0.049211	0.85682	D	0.000000	T	0.52741	0.1753	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61768	-0.6995	10	0.87932	D	0	.	15.6161	0.76769	1.0:0.0:0.0:0.0	.	688	Q9P2G1	AKIB1_HUMAN	G	688	ENSP00000265742:E688G	ENSP00000265742:E688G	E	+	2	0	ANKIB1	91858426	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.287000	0.95975	2.145000	0.66743	0.460000	0.39030	GAA		0.428	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			14	87	0	0	0	0.160694	0	14	87				
TRIM51HP	440041	broad.mit.edu	37	11	55064991	55064991	+	RNA	SNP	G	G	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:55064991G>T	ENST00000526016.1	-	0	434					NR_038174.2				tripartite motif-containing 51H, pseudogene																		CCATGTTCAGGTTTCTGAGAT	0.403																																						ENST00000526016.1																			0																																																			0							g.chr11:55064991G>T			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55064991G>T								NR_038174.2						0	434	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.403	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			3	73	1	0	1.12685e-05	0.047766	1.17967e-05	3	73				
SGIP1	84251	broad.mit.edu	37	1	67147853	67147853	+	Silent	SNP	G	G	A	rs139355833		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:67147853G>A	ENST00000371037.4	+	15	1193	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Silent_p.S376S|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	372	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATGTACTATCGCCGCTCAATT	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17901	0.0		0.0	False		,,,				2504	0.0					ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1114-1116)tcG>tcA		SH3-domain GRB2-like (endophilin) interacting protein 1		G		3,4403	6.2+/-15.9	0,3,2200	78.0	96.0	90.0		1116	-1.5	1.0	1	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SGIP1	NM_032291.2		0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384		372/829	67147853	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147853G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1116G>A	1.37:g.67147853G>A						SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.S376S	p.S372S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			15	1193	+			372			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.1116G>A	CCDS30744.1																																																																																				0.542	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		4	147	0	0	0	0.014758	0	4	147				
GPR50	9248	broad.mit.edu	37	X	150348881	150348881	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:150348881T>C	ENST00000218316.3	+	2	895	c.826T>C	c.(826-828)Tat>Cat	p.Y276H	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	276					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAACTGGCTTTATCTTGCAGC	0.512																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(826-828)Tat>Cat		G protein-coupled receptor 50							121.0	116.0	118.0					X																	150348881		2074	4203	6277	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348881T>C	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.826T>C	X.37:g.150348881T>C	ENSP00000218316:p.Tyr276His						p.Y276H	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	895	+	Acute lymphoblastic leukemia(192;6.56e-05)		276					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.826T>C	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.890604	0.52014	.	.	ENSG00000102195	ENST00000218316	T	0.57273	0.41	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.054058	0.85682	D	0.000000	T	0.44623	0.1302	L	0.38953	1.18	0.46478	D	0.999069	B	0.25809	0.135	B	0.31290	0.127	T	0.47623	-0.9103	10	0.87932	D	0	-11.3917	10.7432	0.46166	0.0:0.0:0.0:1.0	.	276	Q13585	MTR1L_HUMAN	H	276	ENSP00000218316:Y276H	ENSP00000218316:Y276H	Y	+	1	0	GPR50	150099539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.058000	0.64300	1.498000	0.48600	0.381000	0.24937	TAT		0.512	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		4	83	0	0	0	0.150653	0	4	83				
FPR2	2358	broad.mit.edu	37	19	52272719	52272719	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:52272719G>A	ENST00000598776.1	+	2	1580	c.808G>A	c.(808-810)Gag>Aag	p.E270K	FPR2_ENST00000340023.6_Missense_Mutation_p.E270K|FPR2_ENST00000598953.1_Missense_Mutation_p.E270K	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	270					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTGGCTCAAAGAGATGTTGTT	0.512																																						ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(808-810)Gag>Aag		formyl peptide receptor 2							127.0	109.0	115.0					19																	52272719		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272719G>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.808G>A	19.37:g.52272719G>A	ENSP00000468897:p.Glu270Lys					FPR2_ENST00000340023.6_Missense_Mutation_p.E270K|FPR2_ENST00000598953.1_Missense_Mutation_p.E270K	p.E270K	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN			2	1580	+			270					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.808G>A	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	12.07	1.828133	0.32329	.	.	ENSG00000171049	ENST00000340023	T	0.71817	-0.6	3.43	1.24	0.21308	GPCR, rhodopsin-like superfamily (1);	0.385641	0.25711	U	0.028820	T	0.67832	0.2935	L	0.61036	1.89	0.09310	N	1	B	0.33528	0.416	B	0.42163	0.378	T	0.60419	-0.7267	10	0.49607	T	0.09	.	6.6824	0.23127	0.1086:0.1827:0.7087:0.0	.	270	P25090	FPR2_HUMAN	K	270	ENSP00000340191:E270K	ENSP00000340191:E270K	E	+	1	0	FPR2	56964531	0.136000	0.22515	0.002000	0.10522	0.002000	0.02628	2.275000	0.43399	0.446000	0.26666	-0.350000	0.07774	GAG		0.512	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		20	32	0	0	0	0.049695	0	20	32				
TUBA4A	7277	broad.mit.edu	37	2	220116307	220116307	+	Silent	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:220116307G>A	ENST00000248437.4	-	3	528	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.L104L|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	119					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	ATCCGATCCAGCACTGGGTCA	0.502																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(310-312)Ctg>Ttg		tubulin, alpha 4a							117.0	101.0	106.0					2																	220116307		2203	4300	6503	SO:0001819	synonymous_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220116307G>A	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.355C>T	2.37:g.220116307G>A						TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Silent_p.L119L	p.L104L	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	865	-		Renal(207;0.0474)	119					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.310C>T	CCDS2438.1																																																																																				0.502	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		3	109	0	0	0	0.014758	0	3	109				
GIGYF2	26058	broad.mit.edu	37	2	233620985	233620987	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:233620985_233620987delGAG	ENST00000409547.1	+	8	631_633	c.320_322delGAG	c.(319-324)cgagga>cga	p.G111del	GIGYF2_ENST00000409196.3_In_Frame_Del_p.G111del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.G111del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.G111del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.G111del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.G111del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	111	Poly-Gly.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.G108R(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTGACAGGACGAGGAGGAGGAGG	0.424																																						ENST00000373566.3																			2	Substitution - Missense(2)	p.G108R(2)	endometrium(2)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(319-324)cga>c		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233620985_233620987delGAG	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.320_322delGAG	2.37:g.233620994_233620996delGAG	ENSP00000386537:p.Gly111del					GIGYF2_ENST00000409451.3_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.RG107del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.RG107del	p.RG107del			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	6	517_519	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	107			Poly-Gly.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.320_322delGAG	CCDS33401.1																																																																																				0.424	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		7	118						7	118	---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182602674	182602674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:182602674delT	ENST00000323116.5	+	22	2903	c.2643delT	c.(2641-2643)tatfs	p.Y881fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	881					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Y884fs*30(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTGTACAGTATTTTTTTTATA	0.269																																						ENST00000323116.5																			1	Deletion - Frameshift(1)	p.Y884fs*30(1)	large_intestine(1)	breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(2641-2643)tafs		ATPase, class VI, type 11B							60.0	64.0	63.0					3																	182602674		2202	4298	6500	SO:0001589	frameshift_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182602674delT	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2643delT	3.37:g.182602674delT	ENSP00000321195:p.Tyr881fs						p.Y881fs	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		22	2903	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		881					Q96FN1|Q9UKK7	Frame_Shift_Del	DEL	ENST00000323116.5	37	c.2643delT	CCDS33896.1																																																																																				0.269	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		7	83						7	83	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13610162	13610162	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr4:13610162delT	ENST00000040738.5	-	8	1869	c.1734delA	c.(1732-1734)aaafs	p.K578fs		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	578	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										ACCTTGAATCTTTTTTTCTCT	0.358																																						ENST00000040738.5																			0											c.(1732-1734)aafs		biorientation of chromosomes in cell division 1-like 1							58.0	60.0	59.0					4																	13610162		2201	4295	6496	SO:0001589	frameshift_variant	259282						DNA binding	g.chr4:13610162delT	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1734delA	4.37:g.13610162delT	ENSP00000040738:p.Lys578fs						p.K578fs	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			8	1869	-			578			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Frame_Shift_Del	DEL	ENST00000040738.5	37	c.1734delA	CCDS3411.2																																																																																				0.358	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		3	4						3	4	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		8	69						8	69	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs147271628|rs34427285|rs35266724|rs34222232	byFrequency	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.69														955	0.190695	0.1808	0.3184	5008	,	,		11493	0.0565		0.2356	False		,,,				2504	0.2055					ENST00000298532.2																			2	Deletion - In frame(2)	p.S542delS(2)	prostate(1)|central_nervous_system(1)	biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(1624-1626)del		small nuclear RNA activating complex, polypeptide 4, 190kDa																																				SO:0001651	inframe_deletion	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139277995_139277997delGCT	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1624_1626delAGC	9.37:g.139278004_139278006delGCT	ENSP00000298532:p.Ser542del						p.S542del	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	15	1992_1994	-		Myeloproliferative disorder(178;0.0511)	542						In_Frame_Del	DEL	ENST00000298532.2	37	c.1624_1626delAGC	CCDS6998.1																																																																																				0.690	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		7	9						7	9	---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50732139	50732141	+	In_Frame_Del	DEL	CCT	CCT	-	rs4253047	byFrequency	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr10:50732139_50732141delCCT	ENST00000355832.5	-	5	1413_1415	c.1335_1337delAGG	c.(1333-1338)ggaggt>ggt	p.445_446GG>G	PGBD3_ENST00000374127.3_5'UTR|ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.445_446GG>G|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.445_446GG>G|PGBD3_ENST00000603152.1_In_Frame_Del_p.445_446GG>G	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	445	Gly-rich.		G -> D (in dbSNP:rs4253047). {ECO:0000269|Ref.3}.		activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACTTTCCGACCTCCTCCTCCTC	0.458								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1333-1338)ggt>gg	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6																																				SO:0001651	inframe_deletion	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50732139_50732141delCCT	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1335_1337delAGG	10.37:g.50732148_50732150delCCT	ENSP00000348089:p.Gly446del					ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del	p.GG445del	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			5	1413_1415	-			445			Gly-rich.		D3DX94|Q5W0L9	In_Frame_Del	DEL	ENST00000355832.5	37	c.1335_1337delAGG	CCDS7229.1																																																																																				0.458	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		9	231						9	231	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(481-483)ttfs		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			,,	4,21,4229		0,0,4,1,19,2103	46.0	51.0	49.0		,,	2.4	0.0	13		49	5,25,8188		0,1,4,4,16,4084	no	codingComplex,intron,intron	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	,,	0,1,8,5,35,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3651,0.5877,0.441	,,	,,	20041394	9,46,12417	2200	4283	6483	SO:0001589	frameshift_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041394delA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.483delT	13.37:g.20041394delA	ENSP00000383089:p.Phe161fs					TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Intron	p.F161fs			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	527	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	161					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Frame_Shift_Del	DEL	ENST00000400230.2	37	c.483delT	CCDS45014.1																																																																																				0.303	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		7	116						7	116	---	---	---	---
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs10569304	byFrequency	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	299	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768														2057	0.410743	0.7292	0.219	5008	,	,		12737	0.501		0.2545	False		,,,				2504	0.184					ENST00000392519.2																			0				endometrium(2)|lung(1)	3						c.(877-882)gtg>gt		transmembrane protein 121				304,182		142,20,81						1.9	1.0		dbSNP_119	2	455,1007		182,91,458	no	coding	TMEM121	NM_025268.2		324,111,539	A1A1,A1R,RR		31.1218,37.4486,38.963				759,1189				SO:0001651	inframe_deletion	80757					integral to membrane		g.chr14:105996050_105996052delGCC		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.879_881delGCC	14.37:g.105996059_105996061delGCC	ENSP00000376304:p.Pro299del					TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	2	1043_1045	+		Melanoma(154;0.226)	293			Pro-rich.			In_Frame_Del	DEL	ENST00000392519.2	37	c.879_881delGCC	CCDS10006.1																																																																																				0.768	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		3	6						3	6	---	---	---	---
NPIPA8	101059953	broad.mit.edu	37	16	18441114	18441116	+	Splice_Site	DEL	CAC	CAC	-			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr16:18441114_18441116delCAC	ENST00000339303.5	-	1	15		c.e1+1					P0DM63	NPIA8_HUMAN	nuclear pore complex interacting protein family, member A8																		CGGCCATACTCACCACTGGGACT	0.709																																						ENST00000339303.5																			0											c.e1+1		nuclear pore complex interacting protein family, member A8																																				SO:0001630	splice_region_variant	101059953							g.chr16:18441114_18441116delCAC		CCDS61865.1	16p12.3	2013-06-11			ENSG00000214940	ENSG00000214940			41983	protein-coding gene	gene with protein product	"""morpheus gene family member 9"""					11586358	Standard	NM_001282511		Approved	LCR16a9		P0DM63	OTTHUMG00000166284	ENST00000339303.5:c.4043+1GTG>-	16.37:g.18441117_18441119delCAC														1	15	-									Splice_Site	DEL	ENST00000339303.5	37																																																																																						0.709	NPIPA8-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Intron	5	10						5	10	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2328)ccaaagfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs						p.PK775fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	609						7	609	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17127506	17127507	+	lincRNA	INS	-	-	A	rs546582747|rs190702005	byFrequency	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr22:17127506_17127507insA	ENST00000426585.1	+	0	442									transmembrane phosphatase with tensin homology pseudogene 1																		AGGGCCTAGAGAAAAAAAAAAT	0.421													|||unknown(NO_COVERAGE)	11	0.00219649	0.0023	0.0014	5008	,	,		23257	0.001		0.001	False		,,,				2504	0.0051					ENST00000426585.1																			0																																																			0							g.chr22:17127506_17127507insA			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17127516_17127516dupA														0	442	+									RNA	INS	ENST00000426585.1	37																																																																																						0.421	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		8	108						8	108	---	---	---	---
