#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
GPR98	84059	broad.mit.edu	37	5	90106491	90106491	+	Silent	SNP	C	C	T	rs547006152		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:90106491C>T	ENST00000405460.2	+	74	15510	c.15414C>T	c.(15412-15414)ccC>ccT	p.P5138P	GPR98_ENST00000425867.2_Silent_p.P799P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5138					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCCTTCCCCGAGACAACTG	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20668	0.0		0.0	False		,,,				2504	0.0					ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(15412-15414)ccC>ccT		G protein-coupled receptor 98							175.0	173.0	174.0					5																	90106491		1955	4155	6110	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106491C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15414C>T	5.37:g.90106491C>T						GPR98_ENST00000425867.2_Silent_p.P799P	p.P5138P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15510	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5138					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.15414C>T	CCDS47246.1																																																																																				0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		6	216	0	0	0	1	0	6	216				
TSR2	90121	broad.mit.edu	37	X	54470611	54470611	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:54470611G>C	ENST00000375151.4	+	4	456	c.435G>C	c.(433-435)gaG>gaC	p.E145D		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	145					rRNA processing (GO:0006364)					breast(1)|endometrium(3)|lung(2)	6						GTGTGGAAGAGATGGAGGTGA	0.498																																						ENST00000375151.4																			0				breast(1)|endometrium(3)|lung(2)	6						c.(433-435)gaG>gaC		TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)							108.0	85.0	93.0					X																	54470611		2203	4300	6503	SO:0001583	missense	90121				rRNA processing		protein binding	g.chrX:54470611G>C	BC007699	CCDS14358.1	Xp11.22	2008-10-01			ENSG00000158526	ENSG00000158526			25455	protein-coding gene	gene with protein product	"""WGG motif containing 1"""					9417904	Standard	NM_058163		Approved	DT1P1A10, RP1-112K5.2, WGG1	uc004dte.3	Q969E8	OTTHUMG00000021628	ENST00000375151.4:c.435G>C	X.37:g.54470611G>C	ENSP00000364293:p.Glu145Asp						p.E145D	NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN			4	456	+			145						Missense_Mutation	SNP	ENST00000375151.4	37	c.435G>C	CCDS14358.1	.	.	.	.	.	.	.	.	.	.	g	11.56	1.674565	0.29693	.	.	ENSG00000158526	ENST00000375151	.	.	.	6.07	2.34	0.29019	.	0.371203	0.28140	N	0.016458	T	0.34483	0.0899	L	0.29908	0.895	0.36821	D	0.886386	D	0.56521	0.976	P	0.47603	0.551	T	0.28396	-1.0045	9	0.10111	T	0.7	-23.2551	8.6503	0.34031	0.3245:0.0:0.6755:0.0	.	145	Q969E8	TSR2_HUMAN	D	145	.	ENSP00000364293:E145D	E	+	3	2	TSR2	54487336	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.441000	0.21611	0.295000	0.22570	-0.196000	0.12772	GAG		0.498	TSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056802.1	NM_058163		65	86	0	0	0	1	0	65	86				
F8	2157	broad.mit.edu	37	X	154159216	154159216	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:154159216T>C	ENST00000360256.4	-	14	3049	c.2849A>G	c.(2848-2850)gAg>gGg	p.E950G		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	950	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCACCAGACTCAGTAAGGGG	0.373																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(2848-2850)gAg>gGg		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						76.0	76.0	76.0					X																	154159216		2202	4299	6501	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154159216T>C	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2849A>G	X.37:g.154159216T>C	ENSP00000353393:p.Glu950Gly						p.E950G	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	3049	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		950			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.2849A>G	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	T	1.436	-0.568944	0.03910	.	.	ENSG00000185010	ENST00000360256	D	0.99080	-5.4	5.19	-2.98	0.05513	.	0.758830	0.12399	N	0.472309	D	0.93618	0.7962	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.89639	0.3861	10	0.24483	T	0.36	-0.0338	5.6023	0.17361	0.1526:0.2277:0.0:0.6197	.	950	P00451	FA8_HUMAN	G	950	ENSP00000353393:E950G	ENSP00000353393:E950G	E	-	2	0	F8	153812410	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.279000	0.08479	-0.264000	0.09365	-0.377000	0.06932	GAG		0.373	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			5	110	0	0	0	1	0	5	110				
OR5C1	392391	broad.mit.edu	37	9	125551909	125551909	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr9:125551909G>A	ENST00000373680.2	+	1	760	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ATCCACATGCGCTCGGTCGAG	0.592																																						ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(697-699)cGc>cAc		olfactory receptor, family 5, subfamily C, member 1							74.0	69.0	71.0					9																	125551909		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551909G>A	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.698G>A	9.37:g.125551909G>A	ENSP00000362784:p.Arg233His						p.R233H	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	760	+			233					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.698G>A	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	G	0.414	-0.912010	0.02415	.	.	ENSG00000148215	ENST00000373680	T	0.39229	1.09	5.46	-2.97	0.05530	GPCR, rhodopsin-like superfamily (1);	1.106120	0.07134	N	0.846175	T	0.20007	0.0481	N	0.12443	0.215	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.29518	-1.0009	10	0.09590	T	0.72	.	7.9826	0.30192	0.5388:0.112:0.3492:0.0	.	233	Q8NGR4	OR5C1_HUMAN	H	233	ENSP00000362784:R233H	ENSP00000362784:R233H	R	+	2	0	OR5C1	124591730	0.000000	0.05858	0.553000	0.28255	0.039000	0.13416	-1.092000	0.03366	-0.391000	0.07763	-0.137000	0.14449	CGC		0.592	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			6	77	0	0	0	1	0	6	77				
STEAP3	55240	broad.mit.edu	37	2	120003112	120003112	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:120003112C>A	ENST00000354888.5	+	3	544	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	STEAP3_ENST00000450943.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393106.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393107.2_Missense_Mutation_p.L14M|STEAP3_ENST00000409811.1_Missense_Mutation_p.L14M|STEAP3_ENST00000393108.2_Missense_Mutation_p.L14M|STEAP3_ENST00000425223.2_Missense_Mutation_p.L14M|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393110.2_Missense_Mutation_p.L24M	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	14					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CAGCCTCCACCTGGTGGACAG	0.612																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(40-42)Ctg>Atg		STEAP family member 3, metalloreductase							45.0	49.0	48.0					2																	120003112		2203	4300	6503	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120003112C>A	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.40C>A	2.37:g.120003112C>A	ENSP00000346961:p.Leu14Met					STEAP3_ENST00000393108.2_Missense_Mutation_p.L14M|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393107.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393110.2_Missense_Mutation_p.L24M|STEAP3_ENST00000409811.1_Missense_Mutation_p.L14M|STEAP3_ENST00000425223.2_Missense_Mutation_p.L14M|STEAP3_ENST00000450943.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393106.2_Missense_Mutation_p.L14M	p.L14M	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			3	544	+			14					A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.40C>A	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	4.276	0.050448	0.08243	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.09163	3.22;3.22;3.01;3.21;3.22;3.01;3.22;3.22	4.69	1.76	0.24704	.	0.382752	0.23232	N	0.050447	T	0.09069	0.0224	L	0.52266	1.64	0.09310	N	1	P;P;B	0.36438	0.553;0.545;0.214	B;B;B	0.38056	0.204;0.264;0.135	T	0.17745	-1.0359	9	.	.	.	-8.9884	2.9912	0.05983	0.1228:0.5279:0.1201:0.2292	.	14;24;14	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	M	14;14;14;24;14;14;14;14	ENSP00000376820:L14M;ENSP00000346961:L14M;ENSP00000396873:L14M;ENSP00000376822:L24M;ENSP00000376818:L14M;ENSP00000386510:L14M;ENSP00000376819:L14M;ENSP00000396214:L14M	.	L	+	1	2	STEAP3	119719582	0.000000	0.05858	0.652000	0.29579	0.147000	0.21601	0.192000	0.17096	0.557000	0.29117	0.655000	0.94253	CTG		0.612	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		3	73	1	0	1	1	1	3	73				
SBK1	388228	broad.mit.edu	37	16	28331453	28331453	+	Silent	SNP	G	G	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr16:28331453G>C	ENST00000341901.4	+	4	1275	c.486G>C	c.(484-486)ctG>ctC	p.L162L		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	162	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						GCCTGGCGCTGGACTTCATGC	0.692																																						ENST00000341901.4																			0				kidney(1)|lung(3)|ovary(1)	5						c.(484-486)ctG>ctC		SH3 domain binding kinase 1							8.0	9.0	8.0					16																	28331453		2163	4247	6410	SO:0001819	synonymous_variant	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28331453G>C		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.486G>C	16.37:g.28331453G>C							p.L162L	NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN			4	1275	+			162			Protein kinase.			Silent	SNP	ENST00000341901.4	37	c.486G>C	CCDS32416.1																																																																																				0.692	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		2	9	0	0	0	1	0	2	9				
ARHGEF9	23229	broad.mit.edu	37	X	62917174	62917174	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:62917174T>G	ENST00000253401.6	-	4	1192	c.392A>C	c.(391-393)aAg>aCg	p.K131T	ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K78T|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K129T|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K29T|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K110T	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	131	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CCGGCACTGCTTCAGATAGCC	0.453																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(391-393)aAg>aCg		Cdc42 guanine nucleotide exchange factor (GEF) 9							75.0	65.0	68.0					X																	62917174		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62917174T>G	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.392A>C	X.37:g.62917174T>G	ENSP00000253401:p.Lys131Thr					ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K29T|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K78T|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K110T|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K129T	p.K131T	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			4	1192	-			131			DH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.392A>C	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.452988	0.43531	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.59	5.59	0.84812	Dbl homology (DH) domain (5);	0.058413	0.64402	D	0.000002	T	0.54481	0.1861	L	0.41124	1.26	0.48135	D	0.99959	B;B;B	0.23891	0.093;0.093;0.093	B;B;B	0.27380	0.072;0.079;0.05	T	0.50833	-0.8781	10	0.31617	T	0.26	.	13.4906	0.61393	0.0:0.0:0.0:1.0	.	78;129;131	B4DHC7;B1AMR4;O43307	.;.;ARHG9_HUMAN	T	131;129;78;29;110	ENSP00000253401:K131T;ENSP00000364012:K129T;ENSP00000399994:K78T;ENSP00000364004:K29T;ENSP00000364006:K110T	ENSP00000253401:K131T	K	-	2	0	ARHGEF9	62833899	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.426000	0.59882	1.865000	0.54081	0.417000	0.27973	AAG		0.453	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			4	76	0	0	0	1	0	4	76				
FYCO1	79443	broad.mit.edu	37	3	46023170	46023170	+	Splice_Site	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:46023170T>C	ENST00000296137.2	-	3	261		c.e3-2		FYCO1_ENST00000535325.1_Splice_Site	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1						plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCACAGCATCTTTAAGACAAC	0.408																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.e3-2		FYVE and coiled-coil domain containing 1							115.0	112.0	113.0					3																	46023170		2203	4300	6503	SO:0001630	splice_region_variant	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46023170T>C	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.56-2A>G	3.37:g.46023170T>C						FYCO1_ENST00000535325.1_Splice_Site		NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	3	261	-								B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Splice_Site	SNP	ENST00000296137.2	37		CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405671	0.83230	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7731	0.69693	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FYCO1	45998174	1.000000	0.71417	0.939000	0.37840	0.982000	0.71751	7.627000	0.83176	2.285000	0.76669	0.533000	0.62120	.		0.408	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513	Intron	26	33	0	0	0	1	0	26	33				
KLHDC7A	127707	broad.mit.edu	37	1	18808237	18808237	+	Silent	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:18808237C>T	ENST00000400664.1	+	1	814	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	254						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGGAGGGCGCCCCCAACT	0.612																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(760-762)ggC>ggT		kelch domain containing 7A							60.0	63.0	62.0					1																	18808237		2203	4300	6503	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18808237C>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.762C>T	1.37:g.18808237C>T							p.G254G	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	814	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	254					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.762C>T	CCDS185.2																																																																																				0.612	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		6	138	0	0	0	1	0	6	138				
AFF2	2334	broad.mit.edu	37	X	148035253	148035253	+	Missense_Mutation	SNP	G	G	A	rs369100046		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:148035253G>A	ENST00000370460.2	+	10	2020	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	AFF2_ENST00000286437.5_Missense_Mutation_p.R155H|AFF2_ENST00000370457.5_Missense_Mutation_p.R481H|AFF2_ENST00000342251.3_Missense_Mutation_p.R481H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	514					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCACCTCGTGTGGCAACT	0.567																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1540-1542)cGt>cAt		AF4/FMR2 family, member 2		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3834		0,0,1,1632,570	104.0	96.0	99.0		1442,1511,1436,1424,464,1541	4.2	0.9	X		99	0,6728		0,0,0,2428,1872	no	missense,missense,missense,missense,missense,missense	AFF2	NM_001169122.1,NM_001169123.1,NM_001169124.1,NM_001169125.1,NM_001170628.1,NM_002025.3	29,29,29,29,29,29	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	481/1277,504/1302,479/1277,475/1273,155/953,514/1312	148035253	1,10562	2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148035253G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1541G>A	X.37:g.148035253G>A	ENSP00000359489:p.Arg514His					AFF2_ENST00000370457.5_Missense_Mutation_p.R481H|AFF2_ENST00000342251.3_Missense_Mutation_p.R481H|AFF2_ENST00000286437.5_Missense_Mutation_p.R155H	p.R514H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			10	2020	+	Acute lymphoblastic leukemia(192;6.56e-05)		514					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1541G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118873	0.56505	2.61E-4	0.0	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.12	4.24	0.50183	.	0.060464	0.64402	D	0.000005	T	0.69369	0.3103	L	0.41027	1.25	0.51767	D	0.999932	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.69824	0.966;0.942;0.942;0.942;0.942;0.966	T	0.65825	-0.6074	10	0.28530	T	0.3	.	14.3204	0.66482	0.0:0.0:0.8505:0.1495	.	155;479;481;475;504;514	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	514;481;481;155	ENSP00000359489:R514H;ENSP00000359486:R481H;ENSP00000345459:R481H;ENSP00000286437:R155H	ENSP00000286437:R155H	R	+	2	0	AFF2	147842953	0.997000	0.39634	0.851000	0.33527	0.893000	0.52053	3.371000	0.52379	1.020000	0.39573	0.600000	0.82982	CGT		0.567	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		75	100	0	0	0	1	0	75	100				
COLEC11	78989	broad.mit.edu	37	2	3691639	3691639	+	Silent	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:3691639C>T	ENST00000349077.4	+	7	850	c.747C>T	c.(745-747)ggC>ggT	p.G249G	COLEC11_ENST00000382062.2_Silent_p.G225G|COLEC11_ENST00000418971.2_Silent_p.G263G|COLEC11_ENST00000403096.3_Silent_p.G223G|COLEC11_ENST00000402794.1_Silent_p.G199G|COLEC11_ENST00000236693.7_Silent_p.G246G|COLEC11_ENST00000404205.1_Silent_p.G175G|COLEC11_ENST00000402922.1_Silent_p.G199G|COLEC11_ENST00000487365.1_3'UTR	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	249	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TGGCCTCGGGCGGCTGGAACG	0.617																																						ENST00000403096.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(667-669)ggC>ggT		collectin sub-family member 11							58.0	61.0	60.0					2																	3691639		2203	4300	6503	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3691639C>T	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.747C>T	2.37:g.3691639C>T						COLEC11_ENST00000418971.2_Silent_p.G263G|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Silent_p.G175G|COLEC11_ENST00000402922.1_Silent_p.G199G|COLEC11_ENST00000382062.2_Silent_p.G225G|COLEC11_ENST00000349077.4_Silent_p.G249G|COLEC11_ENST00000236693.7_Silent_p.G246G|COLEC11_ENST00000402794.1_Silent_p.G199G	p.G223G	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	1160	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		249			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	c.669C>T	CCDS1649.1																																																																																				0.617	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		47	59	0	0	0	1	0	47	59				
PNN	5411	broad.mit.edu	37	14	39648579	39648579	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:39648579A>G	ENST00000216832.4	+	8	773	c.706A>G	c.(706-708)Aag>Gag	p.K236E	PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	236	Glu-rich.|Necessary for interaction with RNPS1.|Sufficient for PSAP complex assembly.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TATAAGAACTAAGACAAAGCC	0.338																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(706-708)Aag>Gag		pinin, desmosome associated protein							60.0	63.0	62.0					14																	39648579		2202	4299	6501	SO:0001583	missense	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39648579A>G	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.706A>G	14.37:g.39648579A>G	ENSP00000216832:p.Lys236Glu					PNN_ENST00000557680.1_3'UTR	p.K236E	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	8	773	+	Hepatocellular(127;0.213)		236			Glu-rich.|Necessary for interaction with RNPS1.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.706A>G	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.746867	0.89663	.	.	ENSG00000100941	ENST00000216832	T	0.39406	1.08	5.96	5.96	0.96718	Pinin/SDK/MemA protein (1);	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	M	0.76433	2.335	0.80722	D	1	D	0.57571	0.98	P	0.56474	0.799	T	0.63655	-0.6588	10	0.56958	D	0.05	-17.7915	16.4338	0.83864	1.0:0.0:0.0:0.0	.	236	Q9H307	PININ_HUMAN	E	236	ENSP00000216832:K236E	ENSP00000216832:K236E	K	+	1	0	PNN	38718330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.058000	0.93896	2.270000	0.75569	0.533000	0.62120	AAG		0.338	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		3	24	0	0	0	1	0	3	24				
PHF7	51533	broad.mit.edu	37	3	52454349	52454349	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:52454349A>G	ENST00000327906.3	+	6	971	c.311A>G	c.(310-312)aAg>aGg	p.K104R	PHF7_ENST00000347025.2_Missense_Mutation_p.K104R	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	104						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TGCAAGAAAAAGGGAGCTGCT	0.453																																						ENST00000327906.3																			0				breast(2)|large_intestine(4)|lung(3)	9						c.(310-312)aAg>aGg		PHD finger protein 7							144.0	143.0	143.0					3																	52454349		2203	4300	6503	SO:0001583	missense	51533					nucleus	zinc ion binding	g.chr3:52454349A>G	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.311A>G	3.37:g.52454349A>G	ENSP00000333024:p.Lys104Arg					PHF7_ENST00000478707.1_Missense_Mutation_p.K104R|PHF7_ENST00000347025.2_Missense_Mutation_p.K104R	p.K104R	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	6	971	+			104					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.311A>G	CCDS2854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.74|16.74	3.205791|3.205791	0.58234|0.58234	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916|ENST00000454052;ENST00000461861	T;T;T|.	0.71222|.	-0.55;-0.55;-0.55|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);|.	0.170104|.	0.53938|.	D|.	0.000050|.	T|T	0.51550|0.51550	0.1681|0.1681	L|L	0.35723|0.35723	1.085|1.085	0.34093|0.34093	D|D	0.660913|0.660913	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.81914|.	0.995;0.995|.	T|T	0.63363|0.63363	-0.6654|-0.6654	10|6	0.18276|0.36615	T|T	0.48|0.2	-11.2602|-11.2602	12.457|12.457	0.55710|0.55710	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	104;104|.	A8K856;Q9BWX1|.	.;PHF7_HUMAN|.	R|G	104;104;104;12|69;64	ENSP00000419316:K104R;ENSP00000333024:K104R;ENSP00000246282:K104R|.	ENSP00000333024:K104R|ENSP00000399257:R69G	K|R	+|+	2|1	0|2	PHF7|PHF7	52429389|52429389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.718000|2.718000	0.47236|0.47236	2.187000|2.187000	0.69744|0.69744	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.453	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		3	154	0	0	0	1	0	3	154				
METAP1D	254042	broad.mit.edu	37	2	172930372	172930372	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:172930372G>T	ENST00000315796.4	+	4	776	c.389G>T	c.(388-390)cGg>cTg	p.R130L	METAP1D_ENST00000488581.1_Intron	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	130					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CTTGTTCATCGGGAAATCATC	0.368																																						ENST00000315796.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(388-390)cGg>cTg		methionyl aminopeptidase type 1D (mitochondrial)							212.0	173.0	186.0					2																	172930372		2203	4300	6503	SO:0001583	missense	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172930372G>T	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.389G>T	2.37:g.172930372G>T	ENSP00000315152:p.Arg130Leu					METAP1D_ENST00000488581.1_Intron	p.R130L	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN			4	776	+			130					Q1WNX3	Missense_Mutation	SNP	ENST00000315796.4	37	c.389G>T	CCDS2246.1	.	.	.	.	.	.	.	.	.	.	G	5.039	0.192835	0.09599	.	.	ENSG00000172878	ENST00000315796	T	0.76709	-1.04	5.68	1.77	0.24775	Peptidase M24, structural domain (3);	0.314175	0.39615	N	0.001313	T	0.62196	0.2408	L	0.33710	1.025	0.23776	N	0.996878	B	0.12630	0.006	B	0.11329	0.006	T	0.48811	-0.9002	10	0.35671	T	0.21	-8.3285	5.7714	0.18255	0.7353:0.0:0.1401:0.1246	.	130	Q6UB28	AMP1D_HUMAN	L	130	ENSP00000315152:R130L	ENSP00000315152:R130L	R	+	2	0	METAP1D	172638618	1.000000	0.71417	0.998000	0.56505	0.003000	0.03518	4.660000	0.61511	0.153000	0.19213	-1.348000	0.01239	CGG		0.368	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		3	92	1	0	1	1	1	3	92				
PIEZO2	63895	broad.mit.edu	37	18	10691360	10691360	+	Silent	SNP	A	A	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr18:10691360A>C	ENST00000503781.3	-	44	6872	c.6873T>G	c.(6871-6873)gtT>gtG	p.V2291V	PIEZO2_ENST00000285141.4_Silent_p.V146V|PIEZO2_ENST00000302079.6_Silent_p.V2291V|PIEZO2_ENST00000580640.1_Silent_p.V2316V|PIEZO2_ENST00000538948.1_Silent_p.V248V	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2291					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										AAAGCTGGGCAACCAGGTTCT	0.428																																						ENST00000302079.6																			0											c.(6871-6873)gtT>gtG		piezo-type mechanosensitive ion channel component 2							82.0	74.0	76.0					18																	10691360		2203	4300	6503	SO:0001819	synonymous_variant	63895					integral to membrane	ion channel activity	g.chr18:10691360A>C	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6873T>G	18.37:g.10691360A>C						PIEZO2_ENST00000285141.4_Silent_p.V146V|PIEZO2_ENST00000580640.1_Silent_p.V2316V|PIEZO2_ENST00000503781.3_Silent_p.V2291V|PIEZO2_ENST00000538948.1_Silent_p.V248V	p.V2291V			Q9H5I5	PIEZ2_HUMAN			44	6872	-			2291					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37	c.6873T>G																																																																																					0.428	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		4	71	0	0	0	1	0	4	71				
ALG13	79868	broad.mit.edu	37	X	110952273	110952273	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:110952273G>C	ENST00000394780.3	+	5	843	c.831G>C	c.(829-831)gaG>gaC	p.E277D	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Missense_Mutation_p.E173D	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	277	Deubiquitinase activity.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						AAACTTTTGAGTCTGTAAGTA	0.388																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(829-831)gaG>gaC		ALG13, UDP-N-acetylglucosaminyltransferase subunit							92.0	75.0	80.0					X																	110952273		1567	3577	5144	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110952273G>C	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.831G>C	X.37:g.110952273G>C	ENSP00000378260:p.Glu277Asp					ALG13_ENST00000251943.4_Missense_Mutation_p.E173D|ALG13-AS1_ENST00000430794.1_RNA	p.E277D	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			5	843	+			277			OTU.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.831G>C	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086733	0.76642	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283	T;T;T	0.33654	1.4;1.4;1.4	5.41	1.66	0.24008	Ovarian tumour, otubain (2);	0.000000	0.64402	U	0.000020	T	0.57592	0.2064	M	0.87269	2.87	0.34799	D	0.73656	D;D;D	0.63046	0.99;0.992;0.99	P;D;P	0.63488	0.861;0.915;0.861	T	0.68322	-0.5439	10	0.72032	D	0.01	-9.3363	9.0041	0.36100	0.412:0.0:0.588:0.0	.	199;277;173	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	D	173;277;173	ENSP00000251943:E173D;ENSP00000378260:E277D;ENSP00000427093:E173D	ENSP00000251943:E173D	E	+	3	2	ALG13	110838929	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.402000	0.20965	0.222000	0.20900	0.600000	0.82982	GAG		0.388	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		3	7	0	0	0	1	0	3	7				
SLCO4C1	353189	broad.mit.edu	37	5	101631898	101631898	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:101631898C>G	ENST00000310954.6	-	1	355	c.69G>C	c.(67-69)ttG>ttC	p.L23F		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCGACGCAGACAAGCGGCGCA	0.577																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(67-69)ttG>ttC		solute carrier organic anion transporter family, member 4C1							74.0	83.0	80.0					5																	101631898		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101631898C>G	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.69G>C	5.37:g.101631898C>G	ENSP00000309741:p.Leu23Phe						p.L23F	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	1	355	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	23						Missense_Mutation	SNP	ENST00000310954.6	37	c.69G>C	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093572	0.20471	.	.	ENSG00000173930	ENST00000310954	T	0.40476	1.03	4.11	-0.0722	0.13740	.	4.406720	0.00531	N	0.000211	T	0.29491	0.0735	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05582	-1.0876	10	0.09843	T	0.71	.	3.6401	0.08163	0.1483:0.4116:0.3446:0.0955	.	23	Q6ZQN7	SO4C1_HUMAN	F	23	ENSP00000309741:L23F	ENSP00000309741:L23F	L	-	3	2	SLCO4C1	101659797	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.322000	0.08007	0.010000	0.14839	-0.282000	0.10007	TTG		0.577	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		21	31	0	0	0	1	0	21	31				
ERICH5	203111	broad.mit.edu	37	8	99101917	99101917	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr8:99101917G>C	ENST00000318528.3	+	2	1031	c.672G>C	c.(670-672)gaG>gaC	p.E224D	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		224	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TTTCCAAAGAGAATGAATCTC	0.483																																						ENST00000318528.3																			0				kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13						c.(670-672)gaG>gaC		chromosome 8 open reading frame 47							30.0	30.0	30.0					8																	99101917		2203	4298	6501	SO:0001583	missense	203111							g.chr8:99101917G>C																												ENST00000318528.3:c.672G>C	8.37:g.99101917G>C	ENSP00000315614:p.Glu224Asp					C8orf47_ENST00000545282.1_Intron	p.E224D	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.214)		2	1031	+	Breast(36;2.31e-06)		224			Glu-rich.		G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	c.672G>C	CCDS34929.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560750	0.65538	.	.	ENSG00000177459	ENST00000318528	T	0.50548	0.74	5.23	2.36	0.29203	.	0.242590	0.29246	N	0.012709	T	0.45377	0.1339	L	0.56769	1.78	0.09310	N	1	P	0.52316	0.952	P	0.49301	0.606	T	0.33574	-0.9863	10	0.51188	T	0.08	-2.6275	4.223	0.10567	0.1864:0.0:0.6313:0.1823	.	224	Q6P6B1	CH047_HUMAN	D	224	ENSP00000315614:E224D	ENSP00000315614:E224D	E	+	3	2	C8orf47	99171093	0.013000	0.17824	0.022000	0.16811	0.322000	0.28314	0.301000	0.19174	1.435000	0.47434	0.655000	0.94253	GAG		0.483	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			17	33	0	0	0	1	0	17	33				
OR6N2	81442	broad.mit.edu	37	1	158747181	158747181	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:158747181A>G	ENST00000339258.1	-	1	244	c.245T>C	c.(244-246)tTg>tCg	p.L82S		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AATATTAGACAACATCTTAGG	0.448																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(244-246)tTg>tCg		olfactory receptor, family 6, subfamily N, member 2							156.0	149.0	151.0					1																	158747181		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747181A>G	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.245T>C	1.37:g.158747181A>G	ENSP00000344101:p.Leu82Ser						p.L82S	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	244	-	all_hematologic(112;0.0378)		82					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.245T>C	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.846918	0.71603	.	.	ENSG00000188340	ENST00000339258	T	0.00428	7.44	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30419	N	0.009661	T	0.01189	0.0039	H	0.96333	3.805	0.38858	D	0.956418	D	0.89917	1.0	D	0.87578	0.998	T	0.15549	-1.0433	10	0.87932	D	0	-6.0412	14.1215	0.65189	1.0:0.0:0.0:0.0	.	82	Q8NGY6	OR6N2_HUMAN	S	82	ENSP00000344101:L82S	ENSP00000344101:L82S	L	-	2	0	OR6N2	157013805	0.891000	0.30450	0.989000	0.46669	0.903000	0.53119	7.180000	0.77674	2.169000	0.68431	0.528000	0.53228	TTG		0.448	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			9	149	0	0	0	1	0	9	149				
PAGE1	8712	broad.mit.edu	37	X	49455852	49455852	+	Splice_Site	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:49455852C>T	ENST00000376150.3	-	4	424	c.292G>A	c.(292-294)Ggg>Agg	p.G98R		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	98					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GACTACCTACCTTCTGCGGGC	0.468																																						ENST00000376150.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7						c.e4+1		P antigen family, member 1 (prostate associated)							142.0	112.0	122.0					X																	49455852		2203	4300	6503	SO:0001630	splice_region_variant	8712				cellular defense response			g.chrX:49455852C>T	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.292+1G>A	X.37:g.49455852C>T							p.G98_splice	NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN			4	424	-	Ovarian(276;0.236)		98					Q6FGM3|Q9BSS7	Splice_Site	SNP	ENST00000376150.3	37	c.292_splice	CCDS14327.1	.	.	.	.	.	.	.	.	.	.	.	12.31	1.898741	0.33535	.	.	ENSG00000068985	ENST00000376150	T	0.16324	2.35	1.47	1.47	0.22746	.	.	.	.	.	T	0.38904	0.1058	M	0.82323	2.585	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.06991	-1.0796	8	.	.	.	.	5.8786	0.18842	0.0:1.0:0.0:0.0	.	98	O75459	GAGB1_HUMAN	R	98	ENSP00000365320:G98R	.	G	-	1	0	PAGE1	49342556	0.483000	0.25956	0.040000	0.18447	0.049000	0.14656	0.723000	0.25939	1.027000	0.39758	0.462000	0.41574	GGG		0.468	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1		Missense_Mutation	13	52	0	0	0	1	0	13	52				
EPHA3	2042	broad.mit.edu	37	3	89480429	89480429	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:89480429A>G	ENST00000336596.2	+	13	2491	c.2266A>G	c.(2266-2268)Agt>Ggt	p.S756G	EPHA3_ENST00000494014.1_Missense_Mutation_p.S756G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	756	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTTGATCAACAGTAACTTGGT	0.478										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(2266-2268)Agt>Ggt		EPH receptor A3							168.0	152.0	157.0					3																	89480429		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89480429A>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2266A>G	3.37:g.89480429A>G	ENSP00000337451:p.Ser756Gly	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.S756G	p.S756G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	13	2491	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	756			Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2266A>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420760	0.62622	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.83250	-1.7;-1.7	5.33	5.33	0.75918	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83972	0.5370	N	0.17764	0.52	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.83367	0.0005	9	.	.	.	.	15.5821	0.76452	1.0:0.0:0.0:0.0	.	756	P29320	EPHA3_HUMAN	G	756	ENSP00000337451:S756G;ENSP00000419190:S756G	.	S	+	1	0	EPHA3	89563119	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.287000	0.95975	2.139000	0.66308	0.477000	0.44152	AGT		0.478	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		18	37	0	0	0	1	0	18	37				
CACNB2	783	broad.mit.edu	37	10	18787332	18787332	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr10:18787332G>A	ENST00000324631.7	+	4	442	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	CACNB2_ENST00000377315.4_Missense_Mutation_p.A80T|CACNB2_ENST00000377328.1_Missense_Mutation_p.A128T|CACNB2_ENST00000282343.8_Missense_Mutation_p.A100T|CACNB2_ENST00000352115.6_Missense_Mutation_p.A128T|CACNB2_ENST00000377319.3_Missense_Mutation_p.A73T|CACNB2_ENST00000396576.2_Missense_Mutation_p.A73T|CACNB2_ENST00000377331.2_Missense_Mutation_p.A100T|CACNB2_ENST00000377329.4_Missense_Mutation_p.A74T	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	128	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTACAGTGCGGCCCATGAAGA	0.423																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(217-219)Gcc>Acc		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						144.0	126.0	132.0					10																	18787332		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18787332G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.382G>A	10.37:g.18787332G>A	ENSP00000320025:p.Ala128Thr					CACNB2_ENST00000282343.8_Missense_Mutation_p.A100T|CACNB2_ENST00000324631.7_Missense_Mutation_p.A128T|CACNB2_ENST00000377329.4_Missense_Mutation_p.A74T|CACNB2_ENST00000377315.4_Missense_Mutation_p.A80T|CACNB2_ENST00000352115.6_Missense_Mutation_p.A128T|CACNB2_ENST00000377319.3_Missense_Mutation_p.A73T|CACNB2_ENST00000377331.2_Missense_Mutation_p.A100T|CACNB2_ENST00000377328.1_Missense_Mutation_p.A128T	p.A73T	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			3	718	+			128					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.217G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081037	0.55753	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.74	5.74	0.90152	Src homology-3 domain (3);	0.159276	0.56097	D	0.000036	T	0.71978	0.3404	N	0.16037	0.36	0.50313	D	0.999861	B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B	0.40731	0.039;0.001;0.001;0.002;0.001;0.728;0.005;0.038;0.001;0.001;0.107;0.007;0.001;0.204;0.013;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.35114	0.08;0.002;0.003;0.001;0.0;0.196;0.003;0.036;0.003;0.002;0.061;0.024;0.001;0.082;0.053;0.001	T	0.73636	-0.3920	10	0.38643	T	0.18	-15.68	19.9145	0.97053	0.0:0.0:1.0:0.0	.	80;80;74;74;100;128;80;74;74;84;73;100;100;128;128;128	B7Z1U5;B7Z2U3;Q5QJ99;Q6TME0;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	T	128;128;128;100;100;73;73;74;80	ENSP00000320025:A128T;ENSP00000344474:A128T;ENSP00000366545:A128T;ENSP00000282343:A100T;ENSP00000366548:A100T;ENSP00000379821:A73T;ENSP00000366536:A73T;ENSP00000366546:A74T;ENSP00000366532:A80T	ENSP00000282343:A100T	A	+	1	0	CACNB2	18827338	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.888000	0.63164	2.709000	0.92574	0.655000	0.94253	GCC		0.423	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		4	81	0	0	0	1	0	4	81				
NLRP5	126206	broad.mit.edu	37	19	56539141	56539141	+	Silent	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr19:56539141C>T	ENST00000390649.3	+	7	1542	c.1542C>T	c.(1540-1542)ggC>ggT	p.G514G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	514	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCCCTCGAGGCGTGGTCCGGC	0.592																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1540-1542)ggC>ggT		NLR family, pyrin domain containing 5							41.0	42.0	42.0					19																	56539141		2123	4230	6353	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539141C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1542C>T	19.37:g.56539141C>T							p.G514G	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1542	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	514			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1542C>T	CCDS12938.1																																																																																				0.592	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		14	16	0	0	0	1	0	14	16				
HECTD1	25831	broad.mit.edu	37	14	31590686	31590686	+	Missense_Mutation	SNP	C	C	T	rs370774239		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:31590686C>T	ENST00000399332.1	-	28	5629	c.5141G>A	c.(5140-5142)cGt>cAt	p.R1714H	HECTD1_ENST00000553700.1_Missense_Mutation_p.R1714H	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1714					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCCAGCTCGACGTTGCAGGGA	0.507																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(5140-5142)cGt>cAt		HECT domain containing E3 ubiquitin protein ligase 1		C	HIS/ARG	1,3875		0,1,1937	63.0	68.0	66.0		5141	4.6	1.0	14		66	0,8262		0,0,4131	no	missense	HECTD1	NM_015382.2	29	0,1,6068	TT,TC,CC		0.0,0.0258,0.0082	benign	1714/2611	31590686	1,12137	1938	4131	6069	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31590686C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5141G>A	14.37:g.31590686C>T	ENSP00000382269:p.Arg1714His					HECTD1_ENST00000553700.1_Missense_Mutation_p.R1714H	p.R1714H	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	28	5629	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1714					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.5141G>A	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.17|10.17	1.276533|1.276533	0.23307|0.23307	2.58E-4|2.58E-4	0.0|0.0	ENSG00000092148|ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957|ENST00000554882	T;T;T|.	0.08102|.	3.13;3.13;3.13|.	5.5|5.5	4.61|4.61	0.57282|0.57282	.|.	0.373597|.	0.17807|.	U|.	0.161334|.	T|T	0.20659|0.20659	0.0497|0.0497	N|N	0.08118|0.08118	0|0	0.27686|0.27686	N|N	0.946275|0.946275	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.18272|0.18272	-1.0342|-1.0342	10|5	0.21014|.	T|.	0.42|.	-8.564|-8.564	10.4469|10.4469	0.44499|0.44499	0.0:0.9099:0.0:0.0901|0.0:0.9099:0.0:0.0901	.|.	1714;1714|.	D3DS86;Q9ULT8|.	.;HECD1_HUMAN|.	H|I	1714;1716;1714;1141|80	ENSP00000450697:R1714H;ENSP00000382269:R1714H;ENSP00000451860:R1141H|.	ENSP00000261312:R1716H|.	R|V	-|-	2|1	0|0	HECTD1|HECTD1	30660437|30660437	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.016000|0.016000	0.09150|0.09150	3.549000|3.549000	0.53681|0.53681	1.317000|1.317000	0.45149|0.45149	-0.150000|-0.150000	0.13652|0.13652	CGT|GTC		0.507	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			15	31	0	0	0	1	0	15	31				
KIF25	3834	broad.mit.edu	37	6	168430272	168430272	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:168430272T>A	ENST00000443060.2	+	3	398	c.7T>A	c.(7-9)Tgg>Agg	p.W3R	KIF25_ENST00000351261.3_Missense_Mutation_p.W3R|KIF25_ENST00000354419.2_Missense_Mutation_p.W3R			Q9UIL4	KIF25_HUMAN	kinesin family member 25	3					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W3R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCAGATGACATGGACCTCAGG	0.612																																						ENST00000443060.2																			1	Substitution - Missense(1)	p.W3R(1)	skin(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(7-9)Tgg>Agg		kinesin family member 25							127.0	120.0	122.0					6																	168430272		2203	4300	6503	SO:0001583	missense	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168430272T>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.7T>A	6.37:g.168430272T>A	ENSP00000388878:p.Trp3Arg					KIF25_ENST00000354419.2_Missense_Mutation_p.W3R|KIF25_ENST00000351261.3_Missense_Mutation_p.W3R	p.W3R			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	3	398	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	3			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.7T>A	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	t	0.006	-2.097855	0.00360	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.72725	-0.68;-0.68;0.12	0.785	0.785	0.18584	.	0.000000	0.46758	U	0.000269	T	0.19604	0.0471	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21552	-1.0242	9	.	.	.	.	3.8317	0.08877	0.0:0.0:0.0:1.0	.	3;3	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	R	3	ENSP00000388878:W3R;ENSP00000346401:W3R;ENSP00000252688:W3R	.	W	+	1	0	KIF25	168173121	0.001000	0.12720	0.011000	0.14972	0.015000	0.08874	-0.031000	0.12287	0.590000	0.29694	0.334000	0.21626	TGG		0.612	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			5	200	0	0	0	1	0	5	200				
XDH	7498	broad.mit.edu	37	2	31589846	31589846	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:31589846C>T	ENST00000379416.3	-	21	2260	c.2212G>A	c.(2212-2214)Ggt>Agt	p.G738S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	738					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TCTTGGCCACCGATGTATATC	0.537																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(2212-2214)Ggt>Agt		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						131.0	104.0	113.0					2																	31589846		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31589846C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2212G>A	2.37:g.31589846C>T	ENSP00000368727:p.Gly738Ser						p.G738S	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			21	2260	-	Acute lymphoblastic leukemia(172;0.155)		738					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2212G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	35	5.472564	0.96274	.	.	ENSG00000158125	ENST00000379416	T	0.46451	0.87	5.84	5.84	0.93424	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.70771	0.3262	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73956	-0.3819	10	0.72032	D	0.01	.	19.745	0.96248	0.0:1.0:0.0:0.0	.	738	P47989	XDH_HUMAN	S	738	ENSP00000368727:G738S	ENSP00000368727:G738S	G	-	1	0	XDH	31443350	1.000000	0.71417	0.873000	0.34254	0.835000	0.47333	7.703000	0.84585	2.765000	0.95021	0.655000	0.94253	GGT		0.537	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		8	117	0	0	0	1	0	8	117				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			0							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	39	0	0	0	1	0	4	39				
TAF1	6872	broad.mit.edu	37	X	70618475	70618475	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:70618475G>A	ENST00000373790.4	+	24	3722	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q	TAF1_ENST00000423759.1_Missense_Mutation_p.R1245Q|TAF1_ENST00000276072.3_Missense_Mutation_p.R1245Q|TAF1_ENST00000449580.1_Missense_Mutation_p.R1224Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1224					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CGAAAAGAACGGCGGAGGATT	0.473																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(3670-3672)cGg>cAg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							89.0	76.0	80.0					X																	70618475		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70618475G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3671G>A	X.37:g.70618475G>A	ENSP00000362895:p.Arg1224Gln					TAF1_ENST00000423759.1_Missense_Mutation_p.R1245Q|TAF1_ENST00000373790.4_Missense_Mutation_p.R1224Q|TAF1_ENST00000276072.3_Missense_Mutation_p.R1245Q	p.R1224Q			P21675	TAF1_HUMAN			24	3722	+	Renal(35;0.156)	all_lung(315;0.000321)	1224					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3671G>A	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	36|36	5.661902|5.661902	0.96734|0.96734	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000483985|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	.|T;T;T;T	.|0.63096	.|-0.02;-0.02;-0.02;-0.02	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.105596	.|0.64402	.|D	.|0.000005	T|T	0.69904|0.69904	0.3163|0.3163	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.997;0.988;0.998	.|P;P;P	.|0.59948	.|0.809;0.57;0.866	T|T	0.72232|0.72232	-0.4353|-0.4353	5|10	.|0.59425	.|D	.|0.04	.|.	18.5393|18.5393	0.91022|0.91022	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1224;1224;1245	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	S|Q	135|1224;1224;1245;1245	.|ENSP00000362895:R1224Q;ENSP00000389000:R1224Q;ENSP00000406549:R1245Q;ENSP00000276072:R1245Q	.|ENSP00000276072:R1245Q	G|R	+|+	1|2	0|0	TAF1|TAF1	70535200|70535200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.473000|9.473000	0.97714|0.97714	2.321000|2.321000	0.78463|0.78463	0.468000|0.468000	0.43344|0.43344	GGC|CGG		0.473	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		24	34	0	0	0	1	0	24	34				
KHNYN	23351	broad.mit.edu	37	14	24909470	24909470	+	3'UTR	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:24909470G>A	ENST00000251343.5	+	0	5155				SDR39U1_ENST00000554698.1_Missense_Mutation_p.A126V|SDR39U1_ENST00000555365.1_Missense_Mutation_p.A67V|SDR39U1_ENST00000399390.1_Missense_Mutation_p.A139V|SDR39U1_ENST00000553930.1_Missense_Mutation_p.A109V|SDR39U1_ENST00000538105.2_Missense_Mutation_p.A152V|SDR39U1_ENST00000399395.3_Missense_Mutation_p.A234V|SDR39U1_ENST00000555561.1_5'UTR			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCCCAGGGCAGCACCCAAGGT	0.622																																						ENST00000554698.1																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						c.(376-378)gCt>gTt		short chain dehydrogenase/reductase family 39U, member 1							42.0	51.0	48.0					14																	24909470		2077	4206	6283	SO:0001624	3_prime_UTR_variant	56948						binding	g.chr14:24909470G>A	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.*2979G>A	14.37:g.24909470G>A						SDR39U1_ENST00000553930.1_Missense_Mutation_p.A109V|KHNYN_ENST00000251343.5_3'UTR|SDR39U1_ENST00000399395.3_Missense_Mutation_p.A234V|SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000399390.1_Missense_Mutation_p.A139V|SDR39U1_ENST00000555365.1_Missense_Mutation_p.A67V|SDR39U1_ENST00000538105.2_Missense_Mutation_p.A152V	p.A126V			Q9NRG7	D39U1_HUMAN			4	884	-			260					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.377C>T	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749207	0.30955	.	.	ENSG00000100445	ENST00000399395;ENST00000336353;ENST00000399390;ENST00000553930;ENST00000538105;ENST00000554698;ENST00000555365;ENST00000553343;ENST00000555225;ENST00000555355	T;T;T;T;T;T;T;T;T	0.32988	2.19;1.88;1.85;1.88;1.89;1.89;1.88;1.44;1.43	4.71	3.8	0.43715	NAD(P)-binding domain (1);	0.540563	0.18577	N	0.137150	T	0.34454	0.0898	M	0.62088	1.915	0.09310	N	1	P;B;B;P;B	0.40211	0.637;0.098;0.262;0.707;0.04	B;B;B;B;B	0.43103	0.408;0.107;0.147;0.234;0.04	T	0.11518	-1.0584	10	0.32370	T	0.25	-15.7999	11.2395	0.48962	0.0:0.3588:0.6412:0.0	.	109;234;260;152;126	G3V5T1;Q9NRG7-2;Q9NRG7;F6RWC2;Q86TZ5	.;.;D39U1_HUMAN;.;.	V	234;260;139;109;152;126;67;128;67;109	ENSP00000382327:A234V;ENSP00000382322:A139V;ENSP00000452499:A109V;ENSP00000446077:A152V;ENSP00000452438:A126V;ENSP00000451903:A67V;ENSP00000452076:A128V;ENSP00000451593:A67V;ENSP00000450946:A109V	ENSP00000336854:A260V	A	-	2	0	SDR39U1	23979310	0.094000	0.21725	0.062000	0.19696	0.712000	0.41017	2.828000	0.48120	1.161000	0.42604	0.563000	0.77884	GCT		0.622	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			3	54	0	0	0	1	0	3	54				
LPA	4018	broad.mit.edu	37	6	161016555	161016555	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:161016555C>G	ENST00000316300.5	-	21	3344	c.3300G>C	c.(3298-3300)agG>agC	p.R1100S	LPA_ENST00000447678.1_Missense_Mutation_p.R1100S			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3608	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGCAGTAGTTCCTGGTCAGGC	0.498																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3298-3300)agG>agC		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						68.0	66.0	67.0					6																	161016555		2055	4214	6269	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161016555C>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3300G>C	6.37:g.161016555C>G	ENSP00000321334:p.Arg1100Ser					LPA_ENST00000316300.5_Missense_Mutation_p.R1100S	p.R1100S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	22	3420	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3608			Kringle 10.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3300G>C	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	9.668	1.145921	0.21288	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61742	0.08;0.08	2.31	1.39	0.22231	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.24586	0.0596	N	0.04387	-0.21	0.09310	N	0.999998	B	0.27416	0.178	P	0.50570	0.644	T	0.54275	-0.8318	9	0.13108	T	0.6	.	4.2332	0.10613	0.0:0.7889:0.0:0.2111	.	3608	P08519	APOA_HUMAN	S	1100	ENSP00000321334:R1100S;ENSP00000395608:R1100S	ENSP00000321334:R1100S	R	-	3	2	LPA	160936545	0.681000	0.27614	0.769000	0.31535	0.627000	0.37826	0.723000	0.25939	1.265000	0.44215	0.205000	0.17691	AGG		0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		6	66	0	0	0	1	0	6	66				
CD248	57124	broad.mit.edu	37	11	66084109	66084109	+	Silent	SNP	G	G	A	rs574387936		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr11:66084109G>A	ENST00000311330.3	-	1	406	c.390C>T	c.(388-390)cgC>cgT	p.R130R	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	130	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GGGCCACACAGCGCTGGGCCG	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		15904	0.0		0.0	False		,,,				2504	0.001					ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(388-390)cgC>cgT		CD248 molecule, endosialin	Cefalotin(DB00456)						19.0	19.0	19.0					11																	66084109		2161	4236	6397	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66084109G>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.390C>T	11.37:g.66084109G>A						RP11-867G23.13_ENST00000534065.1_RNA	p.R130R	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	406	-			130			C-type lectin.		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.390C>T	CCDS8134.1																																																																																				0.701	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		31	17	0	0	0	1	0	31	17				
CDCP1	64866	broad.mit.edu	37	3	45152168	45152168	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:45152168C>G	ENST00000296129.1	-	4	955	c.821G>C	c.(820-822)tGt>tCt	p.C274S	CDCP1_ENST00000490471.1_5'Flank|CDCP1_ENST00000425231.2_Missense_Mutation_p.C274S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	274						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTTCCTCTCACAGTTGGAGAG	0.592																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(820-822)tGt>tCt		CUB domain containing protein 1							114.0	110.0	111.0					3																	45152168		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45152168C>G	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.821G>C	3.37:g.45152168C>G	ENSP00000296129:p.Cys274Ser					CDCP1_ENST00000425231.2_Missense_Mutation_p.C274S	p.C274S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	4	955	-			274					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.821G>C	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692471	0.88735	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.28069	1.63;1.63	5.87	5.87	0.94306	CUB (1);	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	M	0.71581	2.175	0.48762	D	0.999705	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.58002	-0.7713	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	274;274	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	S	274	ENSP00000296129:C274S;ENSP00000399342:C274S	ENSP00000296129:C274S	C	-	2	0	CDCP1	45127172	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.634000	0.67833	2.941000	0.99782	0.655000	0.94253	TGT		0.592	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		3	137	0	0	0	1	0	3	137				
ATRX	546	broad.mit.edu	37	X	76813058	76813058	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:76813058C>T	ENST00000373344.5	-	30	6777	c.6563G>A	c.(6562-6564)cGa>cAa	p.R2188Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R2150Q	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2188	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATCAACAACTCGAAAAGACAG	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6562-6564)cGa>cAa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						143.0	130.0	135.0					X																	76813058		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76813058C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6563G>A	X.37:g.76813058C>T	ENSP00000362441:p.Arg2188Gln					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R2150Q	p.R2188Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6777	-			2188			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6563G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253862	0.80135	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.91945	-2.94;-2.94	5.57	5.57	0.84162	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.95004	0.8383	L	0.49571	1.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.95483	0.8562	10	0.87932	D	0	-4.7575	18.5479	0.91054	0.0:1.0:0.0:0.0	.	2150;2188	P46100-4;P46100	.;ATRX_HUMAN	Q	2188;2150	ENSP00000362441:R2188Q;ENSP00000378967:R2150Q	ENSP00000362441:R2188Q	R	-	2	0	ATRX	76699714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.323000	0.78572	0.600000	0.82982	CGA		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		53	59	0	0	0	1	0	53	59				
NOS2	4843	broad.mit.edu	37	17	26116671	26116671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:26116671G>A	ENST00000313735.6	-	3	387	c.154C>T	c.(154-156)Cag>Tag	p.Q52*		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	52					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TCATTCTGCTGCTTGCTGAGG	0.567																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(154-156)Cag>Tag		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						203.0	163.0	177.0					17																	26116671		2203	4300	6503	SO:0001587	stop_gained	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26116671G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.154C>T	17.37:g.26116671G>A	ENSP00000327251:p.Gln52*						p.Q52*	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			3	387	-			52					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Nonsense_Mutation	SNP	ENST00000313735.6	37	c.154C>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396258	0.96009	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	.	.	.	4.99	4.01	0.46588	.	1.133310	0.06563	N	0.747114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8704	0.18801	0.0973:0.0:0.7105:0.1923	.	.	.	.	X	52	.	ENSP00000305638:Q52X	Q	-	1	0	NOS2	23140798	0.970000	0.33590	0.237000	0.24090	0.344000	0.29017	2.050000	0.41297	2.497000	0.84241	0.455000	0.32223	CAG		0.567	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		8	184	0	0	0	1	0	8	184				
HDX	139324	broad.mit.edu	37	X	83723854	83723854	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:83723854A>G	ENST00000297977.5	-	3	988	c.877T>C	c.(877-879)Tgt>Cgt	p.C293R	HDX_ENST00000506585.2_Missense_Mutation_p.C235R|HDX_ENST00000373177.2_Missense_Mutation_p.C293R	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	293						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGGACAAACAATTTCCTTCT	0.473																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(877-879)Tgt>Cgt		highly divergent homeobox							117.0	103.0	108.0					X																	83723854		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83723854A>G	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.877T>C	X.37:g.83723854A>G	ENSP00000297977:p.Cys293Arg					HDX_ENST00000506585.2_Missense_Mutation_p.C235R|HDX_ENST00000373177.2_Missense_Mutation_p.C293R	p.C293R	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	988	-			293					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.877T>C	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	A	10.06	1.246894	0.22796	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.31769	1.5;1.48;1.5	4.94	4.94	0.65067	.	0.239138	0.43747	D	0.000532	T	0.27134	0.0665	L	0.43152	1.355	0.58432	D	0.999992	P	0.37015	0.578	B	0.33042	0.157	T	0.09684	-1.0663	10	0.72032	D	0.01	-19.276	13.9638	0.64196	1.0:0.0:0.0:0.0	.	293	Q7Z353	HDX_HUMAN	R	293;235;293	ENSP00000297977:C293R;ENSP00000362272:C235R;ENSP00000423670:C293R	ENSP00000297977:C293R	C	-	1	0	HDX	83610510	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	4.438000	0.59961	1.743000	0.51761	0.345000	0.21793	TGT		0.473	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		9	121	0	0	0	1	0	9	121				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			40	46	0	0	0	1	0	40	46				
MGAT4C	25834	broad.mit.edu	37	12	86373270	86373270	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr12:86373270C>G	ENST00000604798.1	-	8	2438	c.1234G>C	c.(1234-1236)Gat>Cat	p.D412H	MGAT4C_ENST00000549405.2_Missense_Mutation_p.D412H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D412H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D441H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D412H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.D412H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	412					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCCCCAACATCTAGGGCTCCA	0.318																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1234-1236)Gat>Cat		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							88.0	88.0	88.0					12																	86373270		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373270C>G		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1234G>C	12.37:g.86373270C>G	ENSP00000474896:p.Asp412His					MGAT4C_ENST00000548651.1_Missense_Mutation_p.D412H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D441H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.D412H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D412H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D412H	p.D412H			Q9UBM8	MGT4C_HUMAN			8	2438	-			412					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.1234G>C	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875886	0.33162	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651	T;T;T;T;T	0.30981	1.52;1.51;1.52;1.52;1.52	5.76	5.76	0.90799	.	0.168546	0.49916	D	0.000121	T	0.36496	0.0969	L	0.40543	1.245	0.58432	D	0.999993	P;P	0.43287	0.802;0.694	P;B	0.45037	0.467;0.444	T	0.07673	-1.0760	10	0.62326	D	0.03	-7.2935	19.9607	0.97248	0.0:1.0:0.0:0.0	.	441;412	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	412;441;412;412;412;412	ENSP00000331664:D412H;ENSP00000376900:D441H;ENSP00000449022:D412H;ENSP00000446647:D412H;ENSP00000447253:D412H	ENSP00000331664:D412H	D	-	1	0	MGAT4C	84897401	1.000000	0.71417	0.999000	0.59377	0.040000	0.13550	7.814000	0.86154	2.713000	0.92767	0.585000	0.79938	GAT		0.318	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		4	52	0	0	0	1	0	4	52				
SOGA1	140710	broad.mit.edu	37	20	35445842	35445842	+	Silent	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr20:35445842G>A	ENST00000357779.3	-	4	714	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	SOGA1_ENST00000456801.2_5'Flank|SOGA1_ENST00000279034.6_Silent_p.L130L|SOGA1_ENST00000237536.4_Silent_p.L368L			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	130					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GCCTTCCCCAGGGAGCGGGTT	0.453																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(1102-1104)Ctg>Ttg		suppressor of glucose, autophagy associated 1							38.0	36.0	37.0					20																	35445842		1815	4069	5884	SO:0001819	synonymous_variant	140710							g.chr20:35445842G>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.388C>T	20.37:g.35445842G>A						SOGA1_ENST00000279034.5_Silent_p.L130L|SOGA1_ENST00000357779.3_Silent_p.L130L	p.L368L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			4	1443	-			130					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.1102C>T																																																																																					0.453	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		9	10	0	0	0	1	0	9	10				
F8	2157	broad.mit.edu	37	X	154250803	154250803	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:154250803A>G	ENST00000360256.4	-	1	225	c.25T>C	c.(25-27)Ttc>Ctc	p.F9L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	9					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACAGAAAGAAGCAGGTGGAG	0.433																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(25-27)Ttc>Ctc		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						167.0	143.0	151.0					X																	154250803		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154250803A>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.25T>C	X.37:g.154250803A>G	ENSP00000353393:p.Phe9Leu						p.F9L	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			1	225	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		9					Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.25T>C	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.522273	0.27211	.	.	ENSG00000185010	ENST00000360256	D	0.98987	-5.3	5.18	2.72	0.32119	.	0.547442	0.20457	N	0.091973	D	0.95943	0.8679	L	0.43923	1.385	0.26021	N	0.981863	B	0.12013	0.005	B	0.12156	0.007	D	0.88036	0.2778	10	0.12103	T	0.63	-1.5335	3.9911	0.09537	0.7135:0.0:0.1013:0.1852	.	9	P00451	FA8_HUMAN	L	9	ENSP00000353393:F9L	ENSP00000353393:F9L	F	-	1	0	F8	153903997	1.000000	0.71417	0.773000	0.31616	0.313000	0.28021	0.716000	0.25836	0.235000	0.21160	0.430000	0.28490	TTC		0.433	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			3	129	0	0	0	1	0	3	129				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	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)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	2	0	0	0	1	0	28	2				
KRTAP13-3	337960	broad.mit.edu	37	21	31798186	31798186	+	Silent	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr21:31798186G>A	ENST00000390690.2	-	1	100	c.45C>T	c.(43-45)caC>caT	p.H15H		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	15						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AGTAACCCCCGTGGGAGCAGG	0.542																																						ENST00000390690.2																			0				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(43-45)caC>caT		keratin associated protein 13-3							83.0	86.0	85.0					21																	31798186		2203	4300	6503	SO:0001819	synonymous_variant	337960					intermediate filament		g.chr21:31798186G>A	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.45C>T	21.37:g.31798186G>A							p.H15H	NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN			1	100	-			15					Q3LI78	Silent	SNP	ENST00000390690.2	37	c.45C>T	CCDS13591.1																																																																																				0.542	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			67	83	0	0	0	1	0	67	83				
PCNT	5116	broad.mit.edu	37	21	47754527	47754527	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr21:47754527A>G	ENST00000359568.5	+	3	591	c.484A>G	c.(484-486)Agt>Ggt	p.S162G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	162					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.552																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(484-486)Agt>Ggt		pericentrin							206.0	129.0	155.0					21																	47754527		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754527A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.484A>G	21.37:g.47754527A>G	ENSP00000352572:p.Ser162Gly					PCNT_ENST00000480896.1_3'UTR	p.S162G	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	591	+	Breast(49;0.112)		162					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.484A>G	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	a	0.030	-1.341863	0.01277	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01705	4.68	0.235	0.235	0.15431	.	.	.	.	.	T	0.02767	0.0083	L	0.36672	1.1	0.09310	N	1	P;P	0.46395	0.877;0.805	P;P	0.51866	0.682;0.483	T	0.50215	-0.8854	8	0.25751	T	0.34	.	.	.	.	.	44;162	O95613-2;O95613	.;PCNT_HUMAN	G	162;149	ENSP00000352572:S162G	ENSP00000338675:S149G	S	+	1	0	PCNT	46578955	0.036000	0.19791	0.005000	0.12908	0.005000	0.04900	1.077000	0.30741	0.263000	0.21812	0.260000	0.18958	AGT		0.552	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	153	0	0	0	1	0	5	153				
CELSR1	9620	broad.mit.edu	37	22	46793715	46793715	+	Missense_Mutation	SNP	C	C	T	rs370579193		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr22:46793715C>T	ENST00000262738.3	-	12	5556	c.5557G>A	c.(5557-5559)Gtc>Atc	p.V1853I		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1853	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGGTGGCGACGTTGGTGGGC	0.602																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(5557-5559)Gtc>Atc		cadherin, EGF LAG seven-pass G-type receptor 1		C	ILE/VAL	0,4404		0,0,2202	117.0	71.0	87.0		5557	0.6	1.0	22		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR1	NM_014246.1	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	1853/3015	46793715	1,13003	2202	4300	6502	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46793715C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5557G>A	22.37:g.46793715C>T	ENSP00000262738:p.Val1853Ile						p.V1853I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	12	5556	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1853			Laminin G-like 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.5557G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	4.544	0.100918	0.08731	0.0	1.16E-4	ENSG00000075275	ENST00000262738	T	0.68479	-0.33	3.98	0.547	0.17202	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.309767	0.25897	N	0.027588	T	0.29288	0.0729	N	0.01168	-0.975	0.80722	D	1	B;B	0.24618	0.107;0.006	B;B	0.14578	0.011;0.001	T	0.05468	-1.0883	10	0.12430	T	0.62	.	8.3492	0.32292	0.0:0.3457:0.0:0.6543	.	174;1853	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	I	1853	ENSP00000262738:V1853I	ENSP00000262738:V1853I	V	-	1	0	CELSR1	45172379	0.868000	0.29978	0.984000	0.44739	0.534000	0.34807	0.054000	0.14205	-0.162000	0.10964	-0.339000	0.08088	GTC		0.602	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		14	16	0	0	0	1	0	14	16				
HOXD3	3232	broad.mit.edu	37	2	177033896	177033896	+	Silent	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:177033896G>A	ENST00000468418.3	+	3	2144	c.54G>A	c.(52-54)caG>caA	p.Q18Q	HOXD3_ENST00000410016.1_Silent_p.Q18Q|HOXD3_ENST00000249440.3_Silent_p.Q18Q			P31249	HXD3_HUMAN	homeobox D3	18					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCACAATGCAGAAGGCTGCTT	0.527																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(52-54)caG>caA		homeobox D3							103.0	100.0	101.0					2																	177033896		2203	4300	6503	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177033896G>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.54G>A	2.37:g.177033896G>A						HOXD3_ENST00000410016.1_Silent_p.Q18Q|HOXD3_ENST00000249440.3_Silent_p.Q18Q	p.Q18Q			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	2144	+			18					Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.54G>A	CCDS2270.1																																																																																				0.527	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			3	74	0	0	0	1	0	3	74				
FILIP1	27145	broad.mit.edu	37	6	76024718	76024718	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:76024718T>C	ENST00000237172.7	-	5	1160	c.830A>G	c.(829-831)gAa>gGa	p.E277G	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.E277G|FILIP1_ENST00000370020.1_Missense_Mutation_p.E178G	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	277										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCTTCTTCTTCCCTCAGCTT	0.423																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(829-831)gAa>gGa		filamin A interacting protein 1							189.0	177.0	181.0					6																	76024718		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76024718T>C	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.830A>G	6.37:g.76024718T>C	ENSP00000237172:p.Glu277Gly					FILIP1_ENST00000237172.7_Missense_Mutation_p.E277G|FILIP1_ENST00000370020.1_Missense_Mutation_p.E178G|FILIP1_ENST00000498523.1_5'UTR	p.E277G			Q7Z7B0	FLIP1_HUMAN			5	1051	-			277					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.830A>G	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.415046	0.62511	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.21932	1.99;1.98;2.03	5.75	5.75	0.90469	.	0.049718	0.85682	D	0.000000	T	0.19287	0.0463	M	0.61703	1.905	0.80722	D	1	P;B;B	0.34562	0.457;0.288;0.411	B;B;B	0.39503	0.11;0.158;0.301	T	0.02042	-1.1224	10	0.72032	D	0.01	-29.53	16.3473	0.83146	0.0:0.0:0.0:1.0	.	277;277;277	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	G	277;277;178	ENSP00000376728:E277G;ENSP00000237172:E277G;ENSP00000359037:E178G	ENSP00000237172:E277G	E	-	2	0	FILIP1	76081438	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.945000	0.70226	2.320000	0.78422	0.528000	0.53228	GAA		0.423	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		4	87	0	0	0	1	0	4	87				
SNHG14	104472715	broad.mit.edu	37	15	25344651	25344651	+	RNA	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr15:25344651G>A	ENST00000546682.1	+	0	1475				SNHG14_ENST00000549804.2_RNA|SNORD116-27_ENST00000516087.1_RNA|SNORD116-26_ENST00000516006.1_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-25_ENST00000516517.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGCCTGGATCGATGATGACTA	0.443																																						ENST00000546682.1																			0																				94.0	90.0	91.0					15																	25344651		876	1991	2867			0							g.chr15:25344651G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25344651G>A						SNHG14_ENST00000553108.1_RNA|SNORD116-26_ENST00000516006.1_RNA|SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	1475	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.443	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			18	35	0	0	0	1	0	18	35				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			7	86	1	0	0.00198382	1	0.0020468	7	86				
MMGT1	93380	broad.mit.edu	37	X	135047268	135047268	+	Missense_Mutation	SNP	G	G	A	rs150859420		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:135047268G>A	ENST00000305963.2	-	4	698	c.311C>T	c.(310-312)tCg>tTg	p.S104L	MMGT1_ENST00000433339.2_Missense_Mutation_p.S169L	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	104					magnesium ion transport (GO:0015693)	early endosome (GO:0005769)|ER membrane protein complex (GO:0072546)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|endometrium(1)|kidney(1)	3						TGCTGTATCCGAAGGCCGGAA	0.358																																						ENST00000305963.2																			0				cervix(1)|endometrium(1)|kidney(1)	3						c.(310-312)tCg>tTg		membrane magnesium transporter 1		G	LEU/SER	1,3834		0,1,1631,571	190.0	176.0	181.0		311	4.8	1.0	X	dbSNP_134	181	1,6727		0,1,2427,1872	yes	missense	MMGT1	NM_173470.1	145	0,2,4058,2443	AA,AG,GG,G		0.0149,0.0261,0.0189	possibly-damaging	104/132	135047268	2,10561	2203	4300	6503	SO:0001583	missense	93380					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity	g.chrX:135047268G>A	AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446			28100	protein-coding gene	gene with protein product	"""ER membrane protein complex subunit 5"""		"""transmembrane protein 32"""	TMEM32		18057121, 22119785	Standard	NM_173470		Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.311C>T	X.37:g.135047268G>A	ENSP00000306220:p.Ser104Leu					MMGT1_ENST00000433339.2_Missense_Mutation_p.S169L	p.S104L	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN			4	698	-			104					B2R625|B4DIY3|D3DWG7|Q5JPP7	Missense_Mutation	SNP	ENST00000305963.2	37	c.311C>T	CCDS14653.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176274	0.78564	2.61E-4	1.49E-4	ENSG00000169446	ENST00000305963;ENST00000433339	.	.	.	5.67	4.81	0.61882	.	0.113599	0.64402	D	0.000013	T	0.45518	0.1346	N	0.14661	0.345	0.34242	D	0.677799	D;P	0.76494	0.999;0.553	P;B	0.61940	0.896;0.043	T	0.49360	-0.8948	9	0.10111	T	0.7	.	14.9912	0.71390	0.0:0.139:0.861:0.0	.	169;104	Q8N4V1-2;Q8N4V1	.;MMGT1_HUMAN	L	104;169	.	ENSP00000306220:S104L	S	-	2	0	MMGT1	134874934	1.000000	0.71417	0.972000	0.41901	0.909000	0.53808	7.352000	0.79404	1.264000	0.44198	0.600000	0.82982	TCG		0.358	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058453.3	NM_173470		31	213	0	0	0	1	0	31	213				
LRP2	4036	broad.mit.edu	37	2	170026253	170026253	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:170026253C>A	ENST00000263816.3	-	60	11741	c.11456G>T	c.(11455-11457)gGa>gTa	p.G3819V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3819	LDL-receptor class A 33. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTCAGCGGATCCATCGCATTT	0.428																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(11455-11457)gGa>gTa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						221.0	173.0	189.0					2																	170026253		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170026253C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11456G>T	2.37:g.170026253C>A	ENSP00000263816:p.Gly3819Val						p.G3819V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	60	11741	-			3819			LDL-receptor class A 33.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11456G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969617	0.74246	.	.	ENSG00000081479	ENST00000263816	D	0.96913	-4.17	6.03	6.03	0.97812	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98905	0.9629	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98977	1.0803	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	3819	P98164	LRP2_HUMAN	V	3819	ENSP00000263816:G3819V	ENSP00000263816:G3819V	G	-	2	0	LRP2	169734499	1.000000	0.71417	0.931000	0.37212	0.176000	0.22953	5.912000	0.69948	2.861000	0.98227	0.655000	0.94253	GGA		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		17	108	1	0	1.67942e-08	1	1.78954e-08	17	108				
SULT1E1	6783	broad.mit.edu	37	4	70709895	70709895	+	Silent	SNP	C	C	T	rs376968582		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr4:70709895C>T	ENST00000226444.3	-	7	868	c.756G>A	c.(754-756)tcG>tcA	p.S252S		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	252					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	TCATGAAGGGCGACAATTTCT	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		18143	0.0		0.0	False		,,,				2504	0.001					ENST00000226444.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(754-756)tcG>tcA		sulfotransferase family 1E, estrogen-preferring, member 1		C		0,4406		0,0,2203	265.0	233.0	244.0		756	-7.9	0.1	4		244	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SULT1E1	NM_005420.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		252/295	70709895	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70709895C>T	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.756G>A	4.37:g.70709895C>T							p.S252S	NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN			7	868	-			252					Q8N6X5	Silent	SNP	ENST00000226444.3	37	c.756G>A	CCDS3531.1																																																																																				0.393	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		58	124	0	0	0	1	0	58	124				
IGHD	3495	broad.mit.edu	37	14	106306673	106306673	+	RNA	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:106306673G>A	ENST00000390556.2	-	0	1125							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CAGAGTCCCCGTCCCAACCCT	0.662																																						ENST00000390556.2																			0																				6.0	6.0	6.0					14																	106306673		1937	4066	6003			0							g.chr14:106306673G>A	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106306673G>A														0	1125	-								Q6P4I8|Q8WU38	RNA	SNP	ENST00000390556.2	37																																																																																						0.662	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		4	5	0	0	0	1	0	4	5				
ZFAT	57623	broad.mit.edu	37	8	135649705	135649705	+	Splice_Site	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr8:135649705T>C	ENST00000377838.3	-	3	621	c.447A>G	c.(445-447)gcA>gcG	p.A149A	ZFAT_ENST00000429442.2_Splice_Site_p.A137A|ZFAT_ENST00000520356.1_Splice_Site_p.A137A|ZFAT_ENST00000520727.1_Splice_Site_p.A137A|ZFAT_ENST00000523399.1_Splice_Site_p.A149A|ZFAT_ENST00000520214.1_Splice_Site_p.A137A	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	149					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCATTTACCTGCTTCTCCTT	0.468																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.e4+1		zinc finger and AT hook domain containing							99.0	104.0	102.0					8																	135649705		2035	4194	6229	SO:0001630	splice_region_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135649705T>C	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.448+1A>G	8.37:g.135649705T>C						ZFAT_ENST00000429442.2_Splice_Site_p.A137_splice|ZFAT_ENST00000377838.3_Splice_Site_p.A149_splice|ZFAT_ENST00000520356.1_Splice_Site_p.A137_splice|ZFAT_ENST00000520214.1_Splice_Site_p.A137_splice|ZFAT_ENST00000523399.1_Splice_Site_p.A149_splice	p.A137_splice	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		4	710	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		149					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Splice_Site	SNP	ENST00000377838.3	37	c.412_splice	CCDS47924.1																																																																																				0.468	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	Silent	75	105	0	0	0	1	0	75	105				
TP53BP1	7158	broad.mit.edu	37	15	43701105	43701105	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr15:43701105T>C	ENST00000263801.3	-	26	5827	c.5575A>G	c.(5575-5577)Att>Gtt	p.I1859V	TP53BP1_ENST00000382039.3_Missense_Mutation_p.I1814V|TP53BP1_ENST00000382044.4_Missense_Mutation_p.I1864V|TP53BP1_ENST00000450115.2_Missense_Mutation_p.I1862V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1859					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAGTCCAGAATTCTTTGCTCC	0.473								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(5575-5577)Att>Gtt	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							89.0	84.0	85.0					15																	43701105		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43701105T>C	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5575A>G	15.37:g.43701105T>C	ENSP00000263801:p.Ile1859Val					TP53BP1_ENST00000450115.2_Missense_Mutation_p.I1862V|TP53BP1_ENST00000382039.3_Missense_Mutation_p.I1814V|TP53BP1_ENST00000382044.4_Missense_Mutation_p.I1864V	p.I1859V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	26	5827	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1859					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.5575A>G	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.625339	0.66901	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.34	4.21	0.49690	BRCT (1);	0.233446	0.38548	N	0.001650	D	0.84101	0.5398	N	0.21097	0.63	0.40492	D	0.980554	B;P;B	0.47910	0.296;0.902;0.42	B;P;B	0.57620	0.041;0.824;0.09	T	0.82190	-0.0580	10	0.35671	T	0.21	-12.7552	6.8316	0.23913	0.1446:0.0766:0.0:0.7789	.	1859;1864;1862	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	V	1859;1864;1814;1862	ENSP00000263801:I1859V;ENSP00000371475:I1864V;ENSP00000371470:I1814V;ENSP00000393497:I1862V	ENSP00000263801:I1859V	I	-	1	0	TP53BP1	41488397	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.160000	0.31761	2.148000	0.66965	0.528000	0.53228	ATT		0.473	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			6	91	0	0	0	1	0	6	91				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	34	0	0	0	1	0	4	34				
TRIM41	90933	broad.mit.edu	37	5	180651435	180651435	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:180651435A>T	ENST00000315073.5	+	1	1146	c.436A>T	c.(436-438)Agg>Tgg	p.R146W	MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.R146W	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	146	Glu-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ggaggacctgaggggggagga	0.627																																						ENST00000315073.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(436-438)Agg>Tgg		tripartite motif containing 41							91.0	94.0	93.0					5																	180651435		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180651435A>T	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.436A>T	5.37:g.180651435A>T	ENSP00000320869:p.Arg146Trp					TRIM41_ENST00000351937.5_Missense_Mutation_p.R146W	p.R146W	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1146	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	146			Glu-rich.		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.436A>T	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.928948	0.34002	.	.	ENSG00000146063	ENST00000351937;ENST00000315073	T;T	0.56275	0.96;0.47	4.45	1.99	0.26369	Zinc finger, RING-type (1);	0.413845	0.20089	N	0.099500	T	0.35219	0.0924	L	0.29908	0.895	0.29703	N	0.839987	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.26430	-1.0103	10	0.66056	D	0.02	.	4.7059	0.12849	0.7375:0.0:0.0949:0.1676	.	146;146;146	Q8WV44;Q8WV44-2;Q8WV44-4	TRI41_HUMAN;.;.	W	146	ENSP00000336749:R146W;ENSP00000320869:R146W	ENSP00000320869:R146W	R	+	1	2	TRIM41	180584041	0.101000	0.21875	0.998000	0.56505	0.912000	0.54170	-0.019000	0.12546	0.227000	0.20999	-0.415000	0.06103	AGG		0.627	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		28	47	0	0	0	1	0	28	47				
FAM76B	143684	broad.mit.edu	37	11	95512812	95512812	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr11:95512812C>G	ENST00000358780.5	-	7	963	c.651G>C	c.(649-651)aaG>aaC	p.K217N	FAM76B_ENST00000536839.1_Missense_Mutation_p.K217N	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	217						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGGGCTTTTTCTTTGGAGTTT	0.308																																						ENST00000358780.5																			0				breast(1)|kidney(1)|lung(1)	3						c.(649-651)aaG>aaC		family with sequence similarity 76, member B							126.0	121.0	123.0					11																	95512812		1792	4063	5855	SO:0001583	missense	143684							g.chr11:95512812C>G		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.651G>C	11.37:g.95512812C>G	ENSP00000351631:p.Lys217Asn					FAM76B_ENST00000536839.1_Missense_Mutation_p.K217N	p.K217N	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN			7	963	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	217					Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	37	c.651G>C	CCDS41700.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272360	0.59649	.	.	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	L	0.48642	1.525	0.80722	D	1	B	0.27732	0.187	B	0.24155	0.051	T	0.52298	-0.8594	9	0.25106	T	0.35	1.3526	19.5534	0.95331	0.0:1.0:0.0:0.0	.	217	Q5HYJ3	FA76B_HUMAN	N	217	.	ENSP00000351631:K217N	K	-	3	2	FAM76B	95152460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.710000	0.84655	2.683000	0.91414	0.650000	0.86243	AAG		0.308	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664		14	126	0	0	0	1	0	14	126				
TUBG1	7283	broad.mit.edu	37	17	40765009	40765009	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:40765009A>G	ENST00000251413.3	+	6	586	c.524A>G	c.(523-525)cAg>cGg	p.Q175R	FAM134C_ENST00000585894.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	175					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	TTTCCCAACCAGGACGAGATG	0.537																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(523-525)cAg>cGg		tubulin, gamma 1							188.0	151.0	163.0					17																	40765009		2203	4300	6503	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40765009A>G	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.524A>G	17.37:g.40765009A>G	ENSP00000251413:p.Gln175Arg						p.Q175R	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	6	586	+		Breast(137;0.00116)	175					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.524A>G	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.656633	0.47467	.	.	ENSG00000131462	ENST00000251413	T	0.66995	-0.24	4.81	4.81	0.61882	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.62088	1.915	0.80722	D	1	P	0.42357	0.777	P	0.45099	0.469	T	0.72805	-0.4182	10	0.54805	T	0.06	-2.4999	14.5448	0.68020	1.0:0.0:0.0:0.0	.	175	P23258	TBG1_HUMAN	R	175	ENSP00000251413:Q175R	ENSP00000251413:Q175R	Q	+	2	0	TUBG1	38018535	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	9.137000	0.94496	2.023000	0.59567	0.482000	0.46254	CAG		0.537	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		5	181	0	0	0	1	0	5	181				
SELE	6401	broad.mit.edu	37	1	169699643	169699643	+	Silent	SNP	C	C	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:169699643C>A	ENST00000333360.7	-	5	784	c.645G>T	c.(643-645)ctG>ctT	p.L215L	SELE_ENST00000367777.1_Silent_p.L215L|SELE_ENST00000367779.4_Silent_p.L215L|SELE_ENST00000367781.4_Silent_p.L215L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367782.4_Silent_p.L215L|SELE_ENST00000367776.1_Silent_p.L215L|SELE_ENST00000367774.1_Silent_p.L215L|SELE_ENST00000367775.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	215	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TGCTGCTTGGCAGGTAACCCC	0.512																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(643-645)ctG>ctT		selectin E							128.0	117.0	121.0					1																	169699643		2203	4300	6503	SO:0001819	synonymous_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169699643C>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.645G>T	1.37:g.169699643C>A						SELE_ENST00000367777.1_Silent_p.L215L|SELE_ENST00000367776.1_Silent_p.L215L|SELE_ENST00000367779.4_Silent_p.L215L|SELE_ENST00000367775.1_Intron|SELE_ENST00000367782.4_Silent_p.L215L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Silent_p.L215L|SELE_ENST00000367774.1_Silent_p.L215L|SELE_ENST00000367780.4_Intron	p.L215L	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			5	784	-	all_hematologic(923;0.208)		215			Sushi 1.		A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	c.645G>T	CCDS1283.1																																																																																				0.512	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		5	130	1	0	2.7689e-08	1	2.90287e-08	5	130				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	55	0	0	0	1	0	4	55				
IGKV6D-41	28869	broad.mit.edu	37	2	90108679	90108680	+	RNA	INS	-	-	T	rs375873867|rs547892086|rs146434787	byFrequency	TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:90108679_90108680insT	ENST00000390271.2	+	0	75									immunoglobulin kappa variable 6D-41 (non-functional)																		TTTAAATGTGATTTTTTTTTAA	0.302																																						ENST00000390271.2																			0																																																			0							g.chr2:90108679_90108680insT	X12688		2p11.2	2012-02-10	2008-09-10		ENSG00000211626	ENSG00000211626		"""Immunoglobulins / IGK locus"""	5838	other	immunoglobulin gene			"""immunoglobulin kappa variable 6D-41"""				Standard	NG_000833		Approved				OTTHUMG00000151621		2.37:g.90108688_90108688dupT														0	75	+									RNA	INS	ENST00000390271.2	37																																																																																						0.302	IGKV6D-41-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323293.1	NG_000833		4	1						4	1	---	---	---	---
CAPN11	11131	broad.mit.edu	37	6	44140054	44140055	+	Frame_Shift_Ins	INS	-	-	GGCTGCC	rs397947482|rs57288791|rs111320370	byFrequency	TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:44140054_44140055insGGCTGCC	ENST00000398776.1	+	5	463_464	c.425_426insGGCTGCC	c.(424-429)ctggctfs	p.-143fs	CAPN11_ENST00000542245.1_Frame_Shift_Ins_p.-143fs	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11						proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGGCTGCTGGCTGCCATCG	0.584											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		330	0.0658946	0.1256	0.0519	5008	,	,		15212	0.0		0.0736	False		,,,				2504	0.0552					ENST00000542245.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(424-426)cgcfs		calpain 11				348,3260		52,244,1508						4.1	1.0		dbSNP_134	14	387,7195		36,315,3440	yes	frameshift	CAPN11	NM_007058.3		88,559,4948	A1A1,A1R,RR		5.1042,9.6452,6.5684				735,10455				SO:0001589	frameshift_variant	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44140054_44140055insGGCTGCC	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.426_432dupGGCTGCC	6.37:g.44140055_44140061dupGGCTGCC	ENSP00000381758:p.Ala143fs		OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	CAPN11_ENST00000398776.1_Frame_Shift_Ins_p.-142fs	p.-142fs			Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	463_464	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)							B2RA64|Q5T3G1|Q8N4R5	Frame_Shift_Ins	INS	ENST00000398776.1	37	c.425_426insGGCTGCC	CCDS47436.1																																																																																				0.584	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			3	5						3	5	---	---	---	---
GRIFIN	402635	broad.mit.edu	37	7	2516123	2516124	+	RNA	INS	-	-	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr7:2516123_2516124insG	ENST00000417742.1	-	0	170							A4D1Z8	GRIFN_HUMAN	galectin-related inter-fiber protein								carbohydrate binding (GO:0030246)						Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;3.23e-14)		gggggagggctgggggtgggga	0.787																																						ENST00000417742.1																			0													galectin-related inter-fiber protein																																						402635							g.chr7:2516123_2516124insG			7p22.2	2013-01-30			ENSG00000236734	ENSG00000275572			4577	protein-coding gene	gene with protein product						9786891, 18087242	Standard	NM_001291784		Approved			A4D1Z8	OTTHUMG00000152042		7.37:g.2516128_2516128dupG													UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;3.23e-14)	0	170	-		Ovarian(82;0.11)							RNA	INS	ENST00000417742.1	37																																																																																						0.787	GRIFIN-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000325020.1			4	6						4	6	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	lincRNA	DEL	CA	CA	-	rs376658666		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		GGGGTGcacgcacacacacaca	0.53																																						ENST00000606573.1																			0																																																			0							g.chr8:7191540_7191541delCA			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191550_7191551delCA														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.530	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		7	30						7	30	---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98270593	98270595	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr9:98270593_98270595delGCC	ENST00000331920.6	-	1	348_350	c.49_51delGGC	c.(49-51)ggcdel	p.G17del	PTCH1_ENST00000375274.2_Intron|PTCH1_ENST00000429896.2_5'Flank|PTCH1_ENST00000418258.1_5'Flank|PTCH1_ENST00000421141.1_5'Flank|RP11-435O5.5_ENST00000604104.1_RNA|PTCH1_ENST00000430669.2_Intron|PTCH1_ENST00000468211.2_Intron|PTCH1_ENST00000437951.1_Intron	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	17	Gly-rich.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TACAGCCGCTGCCGCCGCCGCCG	0.813																																						ENST00000331920.6																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(49-51)del		patched 1			,,	4,318		2,0,159					,,	-0.8	0.9			2	16,1124		5,6,559	no	intron,intron,coding	PTCH1	NM_001083603.1,NM_001083602.1,NM_000264.3	,,	7,6,718	A1A1,A1R,RR		1.4035,1.2422,1.368	,,	,,		20,1442				SO:0001651	inframe_deletion	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98270593_98270595delGCC	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.49_51delGGC	9.37:g.98270602_98270604delGCC	ENSP00000332353:p.Gly17del					PTCH1_ENST00000375274.2_Intron|PTCH1_ENST00000437951.1_Intron|PTCH1_ENST00000468211.2_Intron|PTCH1_ENST00000430669.2_Intron	p.G17del	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN			1	348_350	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	17			Gly-rich.		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	In_Frame_Del	DEL	ENST00000331920.6	37	c.49_51delGGC	CCDS6714.1																																																																																				0.813	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		2	4						2	4	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank|IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			8	261						8	261	---	---	---	---
SDCCAG3P1	388478	broad.mit.edu	37	18	57677882	57677882	+	lincRNA	DEL	A	A	-			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr18:57677882delA	ENST00000585691.1	+	0	370																											CGGGGTGGAGAAAAAGGAAAG	0.652																																						ENST00000585691.1																			0																																																			0							g.chr18:57677882delA																													18.37:g.57677882delA														0	370	+									RNA	DEL	ENST00000585691.1	37																																																																																						0.652	RP11-866E20.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449078.1			2	4						2	4	---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr19:50155567_50155569delAAG	ENST00000360565.3	+	7	2045_2047	c.1921_1923delAAG	c.(1921-1923)aagdel	p.K645del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	645	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(1921-1923)del		SR-related CTD-associated factor 1				45,2899		7,31,1434						4.0	1.0			2	109,6037		13,83,2977	no	coding	SCAF1	NM_021228.2		20,114,4411	A1A1,A1R,RR		1.7735,1.5285,1.6942				154,8936				SO:0001651	inframe_deletion	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50155567_50155569delAAG	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.1921_1923delAAG	19.37:g.50155576_50155578delAAG	ENSP00000353769:p.Lys645del						p.K645del	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2045_2047	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	645			Arg-rich.|Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	In_Frame_Del	DEL	ENST00000360565.3	37	c.1921_1923delAAG	CCDS33074.1																																																																																				0.744	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		2	4						2	4	---	---	---	---
FRMPD3	84443	broad.mit.edu	37	X	106843712	106843712	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:106843712delC	ENST00000276185.4	+	16	2542	c.2542delC	c.(2542-2544)cccfs	p.P848fs				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	848						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CAAGGACCTGCCCTTCCGGAT	0.607																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(2542-2544)ccfs		FERM and PDZ domain containing 3							55.0	51.0	52.0					X																	106843712		876	1991	2867	SO:0001589	frameshift_variant	84443					cytoskeleton		g.chrX:106843712delC	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.2542delC	X.37:g.106843712delC	ENSP00000276185:p.Pro848fs						p.P848fs			Q5JV73	FRPD3_HUMAN			16	2542	+			848					Q96JK8	Frame_Shift_Del	DEL	ENST00000276185.4	37	c.2542delC																																																																																					0.607	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		13	104						13	104	---	---	---	---
