#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
TRANK1	9881	broad.mit.edu	37	3	36875229	36875229	+	Silent	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr3:36875229A>G	ENST00000429976.2	-	21	5960	c.5713T>C	c.(5713-5715)Tta>Cta	p.L1905L	TRANK1_ENST00000301807.6_Silent_p.L1355L|TRANK1_ENST00000428977.2_Silent_p.L1355L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1905							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTTCTGCTAAGCGTTTCCGA	0.512																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(4063-4065)Tta>Cta		tetratricopeptide repeat and ankyrin repeat containing 1							118.0	117.0	117.0					3																	36875229		1968	4159	6127	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36875229A>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5713T>C	3.37:g.36875229A>G						TRANK1_ENST00000428977.2_Silent_p.L1355L|TRANK1_ENST00000429976.2_Silent_p.L1905L	p.L1355L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	5960	-			1905					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.4063T>C	CCDS46789.2																																																																																				0.512	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		8	107	0	0	0	1	0	8	107				
EBF3	253738	broad.mit.edu	37	10	131671806	131671806	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr10:131671806T>G	ENST00000355311.5	-	8	763	c.691A>C	c.(691-693)Aac>Cac	p.N231H	EBF3_ENST00000368648.3_Missense_Mutation_p.N231H			Q9H4W6	COE3_HUMAN	early B-cell factor 3	231					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ACAAACATGTTGTCTGACACG	0.512																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(691-693)Aac>Cac		early B-cell factor 3							64.0	61.0	62.0					10																	131671806		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131671806T>G		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.691A>C	10.37:g.131671806T>G	ENSP00000347463:p.Asn231His					EBF3_ENST00000355311.5_Missense_Mutation_p.N231H	p.N231H	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	8	763	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	231					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.691A>C		.	.	.	.	.	.	.	.	.	.	T	24.2	4.500008	0.85176	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.56776	0.44;0.5	4.87	4.87	0.63330	.	0.091794	0.64402	D	0.000001	T	0.74756	0.3758	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.80134	-0.1509	10	0.87932	D	0	-20.9951	14.8159	0.70034	0.0:0.0:0.0:1.0	.	231	Q9H4W6-2	.	H	231	ENSP00000347463:N231H;ENSP00000357637:N231H	ENSP00000347463:N231H	N	-	1	0	EBF3	131561796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.936000	0.87665	1.973000	0.57446	0.533000	0.62120	AAC		0.512	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		4	47	0	0	0	1	0	4	47				
MMP26	56547	broad.mit.edu	37	11	5012621	5012621	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:5012621T>A	ENST00000380390.1	+	5	706	c.490T>A	c.(490-492)Ttt>Att	p.F164I	MMP26_ENST00000300762.1_Missense_Mutation_p.F164I			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	164					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	TGGTTGGCCCTTTGATGGGCC	0.463																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(490-492)Ttt>Att		matrix metallopeptidase 26							283.0	273.0	276.0					11																	5012621		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5012621T>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.490T>A	11.37:g.5012621T>A	ENSP00000369753:p.Phe164Ile					MMP26_ENST00000300762.1_Missense_Mutation_p.F164I	p.F164I			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	5	706	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	164					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.490T>A	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192603	0.78902	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.37915	1.17;1.17	3.93	3.93	0.45458	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.41097	U	0.000952	T	0.62258	0.2413	M	0.86420	2.815	0.37385	D	0.912214	D	0.89917	1.0	D	0.97110	1.0	T	0.72481	-0.4280	10	0.87932	D	0	.	10.7633	0.46277	0.0:0.0:0.0:1.0	.	164	Q9NRE1	MMP26_HUMAN	I	164	ENSP00000369753:F164I;ENSP00000300762:F164I	ENSP00000300762:F164I	F	+	1	0	MMP26	4969197	1.000000	0.71417	0.818000	0.32626	0.800000	0.45204	5.494000	0.66905	1.415000	0.47037	0.533000	0.62120	TTT		0.463	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		53	192	0	0	0	1	0	53	192				
PCDHB3	56132	broad.mit.edu	37	5	140480508	140480508	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:140480508G>A	ENST00000231130.2	+	1	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATTGGACCGGGAGGAGCTA	0.483																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(274-276)cGg>cAg									84.0	90.0	88.0					5																	140480508		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480508G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.275G>A	5.37:g.140480508G>A	ENSP00000231130:p.Arg92Gln					AC005754.7_ENST00000607216.1_RNA	p.R92Q	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	275	+			92			Cadherin 1.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.275G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404657	0.83230	.	.	ENSG00000113205	ENST00000231130	T	0.53206	0.63	4.7	4.7	0.59300	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.82403	0.5029	H	0.99286	4.5	0.35609	D	0.808506	D	0.89917	1.0	D	0.97110	1.0	D	0.92863	0.6307	9	0.87932	D	0	.	17.6382	0.88129	0.0:0.0:1.0:0.0	.	92	Q9Y5E6	PCDB3_HUMAN	Q	92	ENSP00000231130:R92Q	ENSP00000231130:R92Q	R	+	2	0	PCDHB3	140460692	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	9.394000	0.97261	2.305000	0.77605	0.655000	0.94253	CGG		0.483	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		10	104	0	0	0	1	0	10	104				
NCOA2	10499	broad.mit.edu	37	8	71044226	71044226	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr8:71044226C>T	ENST00000452400.2	-	16	3351	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	NCOA2_ENST00000267974.4_Missense_Mutation_p.G145D	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1057					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGGAGAACTGCCAAATGGCTG	0.453			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(3169-3171)gGc>gAc		nuclear receptor coactivator 2							49.0	48.0	49.0					8																	71044226		1948	4154	6102	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71044226C>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3170G>A	8.37:g.71044226C>T	ENSP00000399968:p.Gly1057Asp					NCOA2_ENST00000267974.4_Missense_Mutation_p.G145D	p.G1057D	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		16	3351	-	Breast(64;0.201)		1057					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.3170G>A	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.83|17.83	3.486411|3.486411	0.63962|0.63962	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.06849	.|4.79;3.25	5.81|5.81	4.01|4.01	0.46588|0.46588	.|.	.|0.409870	.|0.28488	.|N	.|0.015180	T|T	0.21631|0.21631	0.0521|0.0521	M|M	0.66939|0.66939	2.045|2.045	0.49915|0.49915	D|D	0.999839|0.999839	.|D;D	.|0.65815	.|0.995;0.968	.|P;P	.|0.60609	.|0.877;0.587	T|T	0.00356|0.00356	-1.1793|-1.1793	5|10	.|0.44086	.|T	.|0.13	.|.	11.601|11.601	0.51003|0.51003	0.0:0.8076:0.1254:0.067|0.0:0.8076:0.1254:0.067	.|.	.|145;1057	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	T|D	158|1057;145	.|ENSP00000399968:G1057D;ENSP00000267974:G145D	.|ENSP00000267974:G145D	A|G	-|-	1|2	0|0	NCOA2|NCOA2	71206780|71206780	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.689000|0.689000	0.40095|0.40095	3.817000|3.817000	0.55668|0.55668	0.802000|0.802000	0.34089|0.34089	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.453	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			3	25	0	0	0	1	0	3	25				
MYCBP2	23077	broad.mit.edu	37	13	77862494	77862494	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr13:77862494A>T	ENST00000544440.2	-	3	299	c.282T>A	c.(280-282)aaT>aaA	p.N94K	MYCBP2_ENST00000357337.6_Missense_Mutation_p.N94K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.N132K					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATTACTGTATTCTCTAAGT	0.323																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(394-396)aaT>aaA		MYC binding protein 2, E3 ubiquitin protein ligase							88.0	89.0	89.0					13																	77862494		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77862494A>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.282T>A	13.37:g.77862494A>T	ENSP00000444596:p.Asn94Lys					MYCBP2_ENST00000544440.2_Missense_Mutation_p.N94K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N94K	p.N132K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	3	662	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	94						Missense_Mutation	SNP	ENST00000544440.2	37	c.396T>A		.	.	.	.	.	.	.	.	.	.	A	14.02	2.411716	0.42817	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.27402	1.68;1.67;1.68	5.87	2.19	0.27852	.	0.126066	0.56097	D	0.000034	T	0.17534	0.0421	N	0.22421	0.69	0.27113	N	0.96233	B	0.20052	0.041	B	0.14023	0.01	T	0.21965	-1.0230	10	0.19590	T	0.45	.	9.3528	0.38149	0.7407:0.0:0.2593:0.0	.	94	O75592	MYCB2_HUMAN	K	94;132;94	ENSP00000349892:N94K;ENSP00000384288:N132K;ENSP00000444596:N94K	ENSP00000349892:N94K	N	-	3	2	MYCBP2	76760495	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	2.378000	0.44309	0.153000	0.19213	0.482000	0.46254	AAT		0.323	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		6	39	0	0	0	1	0	6	39				
SMC1B	27127	broad.mit.edu	37	22	45779410	45779410	+	Silent	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr22:45779410G>A	ENST00000357450.4	-	12	1994	c.1995C>T	c.(1993-1995)tgC>tgT	p.C665C	SMC1B_ENST00000404354.3_Silent_p.C665C	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	665	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTCATCCCAGCATCTAGCCT	0.343																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1993-1995)tgC>tgT		structural maintenance of chromosomes 1B							175.0	158.0	163.0					22																	45779410		1823	4080	5903	SO:0001819	synonymous_variant	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45779410G>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1995C>T	22.37:g.45779410G>A						SMC1B_ENST00000404354.3_Silent_p.C665C	p.C665C	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	12	1994	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	665			Flexible hinge.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	ENST00000357450.4	37	c.1995C>T	CCDS43027.1																																																																																				0.343	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		8	41	0	0	0	1	0	8	41				
MYOCD	93649	broad.mit.edu	37	17	12655919	12655919	+	Silent	SNP	T	T	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:12655919T>A	ENST00000343344.4	+	10	1314	c.1314T>A	c.(1312-1314)tcT>tcA	p.S438S	MYOCD_ENST00000425538.1_Silent_p.S438S|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.S342S			Q8IZQ8	MYCD_HUMAN	myocardin	438	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTCCTCTTCTACCAGTGCCC	0.582																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1312-1314)tcT>tcA		myocardin							138.0	121.0	127.0					17																	12655919		2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12655919T>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1314T>A	17.37:g.12655919T>A						MYOCD_ENST00000343344.4_Silent_p.S438S|MYOCD_ENST00000395988.1_Silent_p.S342S	p.S438S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1514	+			438			Ser-rich.		Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.1314T>A	CCDS11163.1																																																																																				0.582	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		9	126	0	0	0	1	0	9	126				
MUC17	140453	broad.mit.edu	37	7	100679992	100679992	+	Missense_Mutation	SNP	G	G	T	rs148096926	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr7:100679992G>T	ENST00000306151.4	+	3	5359	c.5295G>T	c.(5293-5295)gaG>gaT	p.E1765D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1765	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGTTCTGAGGCTAGCACCC	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5293-5295)gaG>gaT		mucin 17, cell surface associated							290.0	303.0	299.0					7																	100679992		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679992G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5295G>T	7.37:g.100679992G>T	ENSP00000302716:p.Glu1765Asp						p.E1765D	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5359	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1765			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5295G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.171	-0.640978	0.03557	.	.	ENSG00000169876	ENST00000306151	T	0.01998	4.51	0.824	-1.65	0.08291	.	.	.	.	.	T	0.01353	0.0044	L	0.27053	0.805	0.09310	N	1	P	0.50156	0.932	B	0.38954	0.286	T	0.45673	-0.9245	9	0.13108	T	0.6	.	4.0827	0.09934	0.5284:0.0:0.4716:0.0	.	1765	Q685J3	MUC17_HUMAN	D	1765	ENSP00000302716:E1765D	ENSP00000302716:E1765D	E	+	3	2	MUC17	100466712	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-1.344000	0.02639	-0.647000	0.05444	-1.368000	0.01194	GAG		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		87	416	1	0	3.62344e-47	1	4.03254e-47	87	416				
DCLK2	166614	broad.mit.edu	37	4	151153981	151153981	+	Splice_Site	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:151153981G>A	ENST00000296550.7	+	10	2320		c.e10+1		DCLK2_ENST00000302176.8_Splice_Site|DCLK2_ENST00000506325.1_Splice_Site	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2						intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GAATCTCTTGGTATGTCATCC	0.438																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.e10+1		doublecortin-like kinase 2							222.0	194.0	203.0					4																	151153981		2203	4300	6503	SO:0001630	splice_region_variant	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151153981G>A	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1566+1G>A	4.37:g.151153981G>A						DCLK2_ENST00000506325.1_Splice_Site|DCLK2_ENST00000302176.8_Splice_Site		NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN			10	2320	+	all_hematologic(180;0.151)							C9J5Q9|Q59GC8|Q8N399	Splice_Site	SNP	ENST00000296550.7	37		CCDS34076.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206723	0.95033	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCLK2	151373431	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.729000	0.98795	2.865000	0.98341	0.655000	0.94253	.		0.438	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260	Intron	9	112	0	0	0	1	0	9	112				
RNF183	138065	broad.mit.edu	37	9	116060197	116060197	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:116060197G>A	ENST00000478815.1	-	1	1848	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	RNF183_ENST00000441031.3_Missense_Mutation_p.H90Y|RNF183_ENST00000478493.1_5'Flank|RNF183_ENST00000297894.5_Missense_Mutation_p.H90Y|RNF183_ENST00000416588.2_Missense_Mutation_p.H90Y			Q96D59	RN183_HUMAN	ring finger protein 183	90						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			lung(1)|prostate(1)|skin(1)	3						AGGATGACATGGTGGGGCTCC	0.652																																						ENST00000478815.1																			0				lung(1)|prostate(1)|skin(1)	3						c.(268-270)Cat>Tat		ring finger protein 183							37.0	44.0	41.0					9																	116060197		2128	4254	6382	SO:0001583	missense	138065					integral to membrane	zinc ion binding	g.chr9:116060197G>A		CCDS43866.1	9q32	2007-04-24			ENSG00000165188	ENSG00000165188		"""RING-type (C3HC4) zinc fingers"""	28721	protein-coding gene	gene with protein product						12477932	Standard	NM_145051		Approved	MGC4734	uc004bgz.3	Q96D59	OTTHUMG00000020520	ENST00000478815.1:c.268C>T	9.37:g.116060197G>A	ENSP00000419454:p.His90Tyr					RNF183_ENST00000297894.5_Missense_Mutation_p.H90Y|RNF183_ENST00000416588.2_Missense_Mutation_p.H90Y|RNF183_ENST00000441031.3_Missense_Mutation_p.H90Y	p.H90Y			Q96D59	RN183_HUMAN			1	1848	-			90						Missense_Mutation	SNP	ENST00000478815.1	37	c.268C>T	CCDS43866.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172852	0.57584	.	.	ENSG00000165188	ENST00000441031;ENST00000416588;ENST00000478815;ENST00000297894	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.17	5.17	0.71159	.	0.600320	0.15215	N	0.274300	T	0.21022	0.0506	N	0.14661	0.345	0.38369	D	0.94482	D	0.62365	0.991	P	0.54544	0.755	T	0.09885	-1.0654	10	0.56958	D	0.05	-34.5331	16.2083	0.82142	0.0:0.0:1.0:0.0	.	90	Q96D59	RN183_HUMAN	Y	90	ENSP00000417176:H90Y;ENSP00000420740:H90Y;ENSP00000419454:H90Y;ENSP00000417943:H90Y	ENSP00000417943:H90Y	H	-	1	0	RNF183	115100018	1.000000	0.71417	0.997000	0.53966	0.295000	0.27426	3.251000	0.51453	2.692000	0.91855	0.655000	0.94253	CAT		0.652	RNF183-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356360.1	NM_145051		4	122	0	0	0	1	0	4	122				
TBP	6908	broad.mit.edu	37	6	170871040	170871040	+	Silent	SNP	A	A	G	rs71815788|rs55736770	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:170871040A>G	ENST00000392092.2	+	3	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_ENST00000540980.1_Silent_p.Q52Q|TBP_ENST00000230354.6_Silent_p.Q72Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	72	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacagcaacagc	0.567																																						ENST00000392092.2																			3	Deletion - In frame(3)	p.Q72del(3)	ovary(1)|prostate(1)|breast(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(214-216)caA>caG		TATA box binding protein							12.0	14.0	13.0					6																	170871040		1995	3894	5889	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871040A>G	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.216A>G	6.37:g.170871040A>G						TBP_ENST00000230354.6_Silent_p.Q72Q|TBP_ENST00000540980.1_Silent_p.Q52Q	p.Q72Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	495	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	72			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.216A>G	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	68	0	0	0	1	0	4	68				
BCAM	4059	broad.mit.edu	37	19	45322041	45322041	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:45322041C>T	ENST00000270233.6	+	10	1260	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	BCAM_ENST00000589651.1_Missense_Mutation_p.S413F	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	413	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)	p.S413F(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TCGCTCAGTTCTATCACCTTC	0.627																																						ENST00000391955.1																			1	Substitution - Missense(1)	p.S413F(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1237-1239)tCt>tTt		basal cell adhesion molecule (Lutheran blood group)							131.0	113.0	119.0					19																	45322041		2203	4300	6503	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322041C>T	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1238C>T	19.37:g.45322041C>T	ENSP00000270233:p.Ser413Phe					BCAM_ENST00000270233.6_Missense_Mutation_p.S413F	p.S413F			P50895	BCAM_HUMAN			10	1282	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	413			Ig-like C2-type 2.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.1238C>T	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	17.84	3.487291	0.63962	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.11277	2.79;2.79	4.6	-2.5	0.06384	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15089	0.0364	M	0.85373	2.75	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.36986	-0.9725	9	0.72032	D	0.01	0.346	7.1033	0.25351	0.5514:0.3606:0.0:0.088	.	413	P50895	BCAM_HUMAN	F	413	ENSP00000270233:S413F;ENSP00000375817:S413F	ENSP00000270233:S413F	S	+	2	0	BCAM	50013881	0.000000	0.05858	0.000000	0.03702	0.347000	0.29111	0.144000	0.16135	-0.122000	0.11766	0.491000	0.48974	TCT		0.627	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		20	138	0	0	0	1	0	20	138				
GFAP	2670	broad.mit.edu	37	17	42989133	42989133	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:42989133G>C	ENST00000253408.5	-	5	878	c.813C>G	c.(811-813)aaC>aaG	p.N271K	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.N271K|GFAP_ENST00000586793.1_Missense_Mutation_p.N271K|GFAP_ENST00000591327.1_5'Flank	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	271	Coil 2B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GCAGCTCCGCGTTGCGGGCAG	0.662																																						ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(811-813)aaC>aaG		glial fibrillary acidic protein							47.0	46.0	46.0					17																	42989133		2203	4299	6502	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42989133G>C	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.813C>G	17.37:g.42989133G>C	ENSP00000253408:p.Asn271Lys					GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.N271K|GFAP_ENST00000586793.1_Missense_Mutation_p.N271K	p.N271K	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			5	878	-		Prostate(33;0.0959)	271			Coil 2B.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.813C>G	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449126	0.63178	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.89681	-2.55;-2.55	4.42	1.37	0.22104	Filament (1);	0.053490	0.64402	D	0.000001	D	0.93354	0.7881	M	0.85099	2.735	0.41720	D	0.989503	D;D	0.76494	0.998;0.999	D;D	0.71870	0.927;0.975	D	0.92408	0.5935	10	0.72032	D	0.01	.	9.7489	0.40464	0.2284:0.0:0.7716:0.0	.	271;271	E9PAX3;P14136	.;GFAP_HUMAN	K	271;246;271	ENSP00000253408:N271K;ENSP00000403962:N271K	ENSP00000253408:N271K	N	-	3	2	GFAP	40344659	0.453000	0.25721	0.094000	0.20943	0.004000	0.04260	0.726000	0.25984	0.382000	0.24878	0.655000	0.94253	AAC		0.662	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		5	106	0	0	0	1	0	5	106				
RBPJ	3516	broad.mit.edu	37	4	26432517	26432517	+	Missense_Mutation	SNP	A	A	G	rs1064404		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:26432517A>G	ENST00000361572.6	+	11	1585	c.1391A>G	c.(1390-1392)aAt>aGt	p.N464S	RBPJ_ENST00000507561.1_Missense_Mutation_p.N429S|RBPJ_ENST00000355476.3_Missense_Mutation_p.N450S|RBPJ_ENST00000345843.3_Missense_Mutation_p.N449S|RBPJ_ENST00000342295.1_Missense_Mutation_p.N464S|RBPJ_ENST00000348160.4_Missense_Mutation_p.N451S|RBPJ_ENST00000342320.4_Missense_Mutation_p.N450S|RBPJ_ENST00000504907.1_3'UTR			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	464					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CTTCGAGCCAATTCAAGCCAG	0.498																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(1348-1350)aAt>aGt		recombination signal binding protein for immunoglobulin kappa J region							63.0	64.0	64.0					4																	26432517		2203	4300	6503	SO:0001583	missense	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26432517A>G	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.1391A>G	4.37:g.26432517A>G	ENSP00000354528:p.Asn464Ser					RBPJ_ENST00000507561.1_Missense_Mutation_p.N429S|RBPJ_ENST00000345843.3_Missense_Mutation_p.N449S|RBPJ_ENST00000342295.1_Missense_Mutation_p.N464S|RBPJ_ENST00000504907.1_3'UTR|RBPJ_ENST00000348160.4_Missense_Mutation_p.N451S|RBPJ_ENST00000355476.3_Missense_Mutation_p.N450S|RBPJ_ENST00000361572.6_Missense_Mutation_p.N464S	p.N450S			Q06330	SUH_HUMAN			11	1525	+		Breast(46;0.0503)	464					B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	c.1349A>G	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	A	6.874	0.530669	0.13127	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000342320	T;T;T;T;T;T;T	0.33216	1.43;1.43;1.43;1.43;1.42;1.43;1.42	5.31	0.12	0.14691	.	0.356314	0.35378	N	0.003257	T	0.12008	0.0292	N	0.08118	0	0.30364	N	0.783538	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.34378	-0.9831	10	0.09843	T	0.71	-5.5964	9.144	0.36921	0.7197:0.0:0.2803:0.0	rs1064404;rs1064404	451;450;449;464	B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;SUH_HUMAN	S	449;464;464;451;450;429;450	ENSP00000305815:N449S;ENSP00000345206:N464S;ENSP00000354528:N464S;ENSP00000339699:N451S;ENSP00000347659:N450S;ENSP00000423907:N429S;ENSP00000340124:N450S	ENSP00000345206:N464S	N	+	2	0	RBPJ	26041615	0.150000	0.22732	0.137000	0.22149	0.996000	0.88848	0.769000	0.26604	-0.179000	0.10654	0.533000	0.62120	AAT		0.498	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		8	84	0	0	0	1	0	8	84				
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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"""		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(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	CM971506	TP53	M	rs121913344	c.(916-918)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							120.0	106.0	110.0					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7577022G>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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	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_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	p.R306*	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	1048	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	64	0	0	0	1	0	27	64				
TUBB8P7	197331	broad.mit.edu	37	16	90161609	90161609	+	RNA	SNP	A	A	G	rs371305733		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr16:90161609A>G	ENST00000564451.1	+	0	962				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGATGGAGTCAGTGATGGACG	0.617																																						ENST00000564451.1																			0																																																			0							g.chr16:90161609A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161609A>G						TUBB8P7_ENST00000567960.1_RNA								0	962	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.617	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	44	0	0	0	1	0	3	44				
TH	7054	broad.mit.edu	37	11	2190969	2190969	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:2190969C>T	ENST00000381178.1	-	3	334	c.316G>A	c.(316-318)Gag>Aag	p.E106K	TH_ENST00000352909.3_Missense_Mutation_p.E75K|TH_ENST00000381175.1_Missense_Mutation_p.E102K|TH_ENST00000333684.5_Missense_Mutation_p.E79K	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	106					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCCTCCTTCTCCTCAAAGGCC	0.692																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(316-318)Gag>Aag		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						41.0	43.0	42.0					11																	2190969		2202	4299	6501	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2190969C>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.316G>A	11.37:g.2190969C>T	ENSP00000370571:p.Glu106Lys					TH_ENST00000333684.5_Missense_Mutation_p.E79K|TH_ENST00000352909.3_Missense_Mutation_p.E75K|TH_ENST00000381175.1_Missense_Mutation_p.E102K	p.E106K	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	3	334	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	106					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.316G>A	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125047	0.77436	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89	3.06	2.08	0.27032	.	0.130022	0.49916	D	0.000127	D	0.96140	0.8742	M	0.69823	2.125	0.47245	D	0.999363	P;P;P;B;B;B	0.41041	0.736;0.455;0.455;0.078;0.047;0.135	B;B;B;B;B;B	0.33196	0.159;0.102;0.102;0.099;0.03;0.067	D	0.93907	0.7193	10	0.72032	D	0.01	.	10.9263	0.47193	0.0:0.8073:0.1927:0.0	.	79;79;75;75;106;102	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	K	106;102;75;79	ENSP00000370571:E106K;ENSP00000370567:E102K;ENSP00000325951:E75K;ENSP00000328814:E79K	ENSP00000328814:E79K	E	-	1	0	TH	2147545	1.000000	0.71417	0.002000	0.10522	0.707000	0.40811	5.259000	0.65485	0.572000	0.29383	0.491000	0.48974	GAG		0.692	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		6	53	0	0	0	1	0	6	53				
TTN	7273	broad.mit.edu	37	2	179585690	179585690	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:179585690C>A	ENST00000591111.1	-	77	22329	c.22105G>T	c.(22105-22107)Ggt>Tgt	p.G7369C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G7686C|TTN_ENST00000342992.6_Missense_Mutation_p.G6442C|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12929	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCAACACCATTATGAGCC	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23056-23058)Ggt>Tgt		titin							76.0	77.0	77.0					2																	179585690		2051	4206	6257	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585690C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22105G>T	2.37:g.179585690C>A	ENSP00000465570:p.Gly7369Cys					TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6442C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7369C|TTN_ENST00000359218.5_Intron	p.G7686C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		79	23280	-			7369			Ig-like 59.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23056G>T		.	.	.	.	.	.	.	.	.	.	C	12.91	2.078282	0.36662	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67487	0.2898	L	0.37897	1.145	0.80722	D	1	P	0.50528	0.936	P	0.50791	0.65	T	0.69610	-0.5099	9	0.87932	D	0	.	15.4294	0.75081	0.1705:0.8295:0.0:0.0	.	7369	Q8WZ42	TITIN_HUMAN	C	6442	ENSP00000343764:G6442C	ENSP00000343764:G6442C	G	-	1	0	TTN	179293935	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.428000	0.52792	2.937000	0.99478	0.650000	0.86243	GGT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	60	1	0	0.014758	1	0.014758	5	60				
MUC16	94025	broad.mit.edu	37	19	9069935	9069935	+	Silent	SNP	G	G	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:9069935G>T	ENST00000397910.4	-	3	17714	c.17511C>A	c.(17509-17511)ccC>ccA	p.P5837P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5839	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAGATGTAGGGTGACATTT	0.473																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17509-17511)ccC>ccA		mucin 16, cell surface associated							212.0	199.0	203.0					19																	9069935		1953	4134	6087	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069935G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17511C>A	19.37:g.9069935G>T							p.P5837P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	17714	-			5839			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.17511C>A	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	119	1	0	1.58986e-06	1	1.71407e-06	11	119				
CRHBP	1393	broad.mit.edu	37	5	76259212	76259212	+	Silent	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:76259212G>A	ENST00000274368.4	+	6	1160	c.738G>A	c.(736-738)ctG>ctA	p.L246L	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	246					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTGTGGAGCTGCTGGGAGGAA	0.458																																						ENST00000274368.4																			0				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(736-738)ctG>ctA		corticotropin releasing hormone binding protein							173.0	175.0	175.0					5																	76259212		2203	4300	6503	SO:0001819	synonymous_variant	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76259212G>A	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.738G>A	5.37:g.76259212G>A						CRHBP_ENST00000514258.1_3'UTR	p.L246L	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	6	1160	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	246					Q53F32|Q6FHT5	Silent	SNP	ENST00000274368.4	37	c.738G>A	CCDS4034.1																																																																																				0.458	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		9	104	0	0	0	1	0	9	104				
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr22:18778612C>T	ENST00000412448.1	-	0	793							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GCGGCCACGGCAGCCCTGGTG	0.637																																						ENST00000412448.1																			0																																																			0							g.chr22:18778612C>T			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778612C>T														0	793	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	25	0	0	0	1	0	4	25				
SCN1A	6323	broad.mit.edu	37	2	166897764	166897764	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:166897764T>A	ENST00000303395.4	-	13	2391	c.2392A>T	c.(2392-2394)Aat>Tat	p.N798Y	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.N798Y|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N770Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.N787Y			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	798					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTAAGCACATTATTGAAATGG	0.363																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(2392-2394)Aat>Tat		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						80.0	72.0	75.0					2																	166897764		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166897764T>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2392A>T	2.37:g.166897764T>A	ENSP00000303540:p.Asn798Tyr					AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N770Y|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N787Y|SCN1A_ENST00000303395.4_Missense_Mutation_p.N798Y|AC010127.3_ENST00000595268.1_RNA	p.N798Y	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			13	2409	-			798					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2392A>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	1.021	-0.684857	0.03328	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.39	-2.09	0.07232	.	0.345579	0.28166	N	0.016360	D	0.93703	0.7988	L	0.55481	1.735	0.28406	N	0.918406	B;B;B	0.14805	0.005;0.011;0.0	B;B;B	0.17722	0.019;0.014;0.001	D	0.87483	0.2422	10	0.62326	D	0.03	.	8.5615	0.33514	0.0:0.167:0.5378:0.2951	.	787;770;798	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Y	798;798;787;770	ENSP00000407030:N798Y;ENSP00000303540:N798Y;ENSP00000364554:N787Y;ENSP00000386312:N770Y	ENSP00000303540:N798Y	N	-	1	0	SCN1A	166606010	0.002000	0.14202	0.926000	0.36857	0.871000	0.50021	-0.571000	0.05889	-0.251000	0.09542	-0.438000	0.05819	AAT		0.363	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		18	60	0	0	0	1	0	18	60				
ROR2	4920	broad.mit.edu	37	9	94486641	94486641	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:94486641G>A	ENST00000375708.3	-	9	2333	c.2135C>T	c.(2134-2136)cCt>cTt	p.P712L	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.P572L	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	712	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCGGGGCAAGGCAGCACCTG	0.642																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2134-2136)cCt>cTt		receptor tyrosine kinase-like orphan receptor 2							64.0	53.0	57.0					9																	94486641		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486641G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2135C>T	9.37:g.94486641G>A	ENSP00000364860:p.Pro712Leu					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.P572L	p.P712L	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2333	-			712			Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2135C>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398375	0.25205	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.83075	-1.68;-1.68	4.65	4.65	0.58169	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41938	D	0.000792	T	0.80773	0.4687	L	0.49256	1.55	0.58432	D	0.999992	B;B	0.30526	0.045;0.283	B;B	0.37731	0.014;0.257	T	0.80783	-0.1228	10	0.59425	D	0.04	.	11.2494	0.49017	0.0831:0.0:0.9169:0.0	.	712;572	Q01974;B1APY4	ROR2_HUMAN;.	L	572;712	ENSP00000364867:P572L;ENSP00000364860:P712L	ENSP00000364860:P712L	P	-	2	0	ROR2	93526462	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	5.470000	0.66756	2.415000	0.81967	0.561000	0.74099	CCT		0.642	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			4	55	0	0	0	1	0	4	55				
GAPVD1	26130	broad.mit.edu	37	9	128094894	128094894	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:128094894A>G	ENST00000495955.1	+	15	2704	c.2414A>G	c.(2413-2415)gAt>gGt	p.D805G	GAPVD1_ENST00000312123.9_Missense_Mutation_p.D784G|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D805G|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D784G|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D805G|GAPVD1_ENST00000470056.1_Missense_Mutation_p.D805G|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D805G|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D805G			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	805					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCAGACATGGATGAAATAACT	0.448																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2413-2415)gAt>gGt		GTPase activating protein and VPS9 domains 1							88.0	88.0	88.0					9																	128094894		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128094894A>G		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2414A>G	9.37:g.128094894A>G	ENSP00000419063:p.Asp805Gly					GAPVD1_ENST00000312123.9_Missense_Mutation_p.D784G|GAPVD1_ENST00000495955.1_Missense_Mutation_p.D805G|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D805G|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D784G|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D805G|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D805G|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D805G	p.D805G			Q14C86	GAPD1_HUMAN			13	2574	+			805					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2414A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.31|19.31	3.802522|3.802522	0.70682|0.70682	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329	T;T;T;T;T;T;T;T;T|.	0.14266|.	2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.049381|.	0.85682|.	D|.	0.000000|.	T|T	0.48205|0.48205	0.1487|0.1487	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999994|0.999994	B;B;B;B;B;P|.	0.39480|.	0.135;0.083;0.135;0.135;0.135;0.675|.	B;B;B;B;B;B|.	0.41813|.	0.157;0.075;0.101;0.101;0.101;0.367|.	T|T	0.45673|0.45673	-0.9245|-0.9245	10|5	0.40728|.	T|.	0.16|.	.|.	15.148|15.148	0.72674|0.72674	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	805;805;805;784;805;805|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	G|V	805;805;805;805;784;805;805;805;784|668	ENSP00000419767:D805G;ENSP00000377665:D805G;ENSP00000377664:D805G;ENSP00000265956:D805G;ENSP00000377645:D784G;ENSP00000419063:D805G;ENSP00000418747:D805G;ENSP00000297933:D805G;ENSP00000309582:D784G|.	ENSP00000265956:D805G|.	D|M	+|+	2|1	0|0	GAPVD1|GAPVD1	127134715|127134715	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	9.339000|9.339000	0.96797|0.96797	2.182000|2.182000	0.69389|0.69389	0.459000|0.459000	0.35465|0.35465	GAT|ATG		0.448	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			14	58	0	0	0	1	0	14	58				
DDX52	11056	broad.mit.edu	37	17	35974371	35974371	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:35974371C>G	ENST00000349699.2	-	15	1813	c.1770G>C	c.(1768-1770)aaG>aaC	p.K590N	DDX52_ENST00000394367.3_Missense_Mutation_p.K482N|RP11-697E22.1_ENST00000591689.1_RNA	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	590	Lys-rich.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CTACTTTCTTCTTGCTGTTCT	0.323																																						ENST00000349699.2																			0				biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17						c.(1768-1770)aaG>aaC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							93.0	86.0	88.0					17																	35974371		2201	4300	6501	SO:0001583	missense	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35974371C>G	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.1770G>C	17.37:g.35974371C>G	ENSP00000268854:p.Lys590Asn					DDX52_ENST00000394367.3_Missense_Mutation_p.K482N	p.K590N	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN			15	1813	-		Breast(25;0.00637)|Ovarian(249;0.15)	590			Lys-rich.		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	c.1770G>C	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348810	0.41599	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	T;T	0.15603	2.41;2.43	5.6	2.4	0.29515	.	1.819250	0.02473	N	0.087707	T	0.20659	0.0497	L	0.55834	1.745	0.36411	D	0.863719	B	0.13594	0.008	B	0.09377	0.004	T	0.10451	-1.0629	10	0.41790	T	0.15	.	7.9099	0.29785	0.0:0.6085:0.3079:0.0836	.	590	Q9Y2R4	DDX52_HUMAN	N	590;482	ENSP00000268854:K590N;ENSP00000377893:K482N	ENSP00000268854:K590N	K	-	3	2	DDX52	33048484	1.000000	0.71417	0.955000	0.39395	0.900000	0.52787	1.318000	0.33643	0.357000	0.24183	0.655000	0.94253	AAG		0.323	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		5	26	0	0	0	1	0	5	26				
MAN1B1	11253	broad.mit.edu	37	9	139996094	139996094	+	Silent	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:139996094C>T	ENST00000371589.4	+	8	1297	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	MAN1B1_ENST00000474902.1_Silent_p.L111L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	408					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCCGGGAGCTCTCCCGTCTCA	0.597																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(1222-1224)ctC>ctT		mannosidase, alpha, class 1B, member 1							36.0	35.0	36.0					9																	139996094		2203	4300	6503	SO:0001819	synonymous_variant	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139996094C>T	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1224C>T	9.37:g.139996094C>T						MAN1B1_ENST00000474902.1_Silent_p.L111L	p.L408L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	8	1297	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	408					Q5VSG3|Q9BRS9|Q9Y5K7	Silent	SNP	ENST00000371589.4	37	c.1224C>T	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	4.042	0.005450	0.07866	.	.	ENSG00000177239	ENST00000535144	D	0.94232	-3.38	4.85	-0.939	0.10408	.	0.098846	0.42172	U	0.000759	D	0.92818	0.7716	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.88125	0.2834	6	.	.	.	-16.1983	11.413	0.49935	0.137:0.3293:0.5337:0.0	.	.	.	.	F	382	ENSP00000441398:L382F	.	L	+	1	0	MAN1B1	139115915	0.717000	0.27966	0.638000	0.29380	0.357000	0.29423	-0.120000	0.10660	-0.357000	0.08175	-0.314000	0.08810	CTC		0.597	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		5	18	0	0	0	1	0	5	18				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			11	48	0	0	0	1	0	11	48				
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																						ENST00000414583.2																			0																																																			0							g.chr22:24659578A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659578A>G								NR_003714.1						0	3103	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		6	35	0	0	0	1	0	6	35				
FAT4	79633	broad.mit.edu	37	4	126239282	126239282	+	Silent	SNP	C	C	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:126239282C>G	ENST00000394329.3	+	1	1729	c.1716C>G	c.(1714-1716)ctC>ctG	p.L572L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	572	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAGTAACTCTCCTAGATGTGA	0.498											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(1714-1716)ctC>ctG		FAT atypical cadherin 4							51.0	53.0	53.0					4																	126239282		1954	4156	6110	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239282C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1716C>G	4.37:g.126239282C>G			OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.L572L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	1729	+			572			Cadherin 5.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.1716C>G	CCDS3732.3																																																																																				0.498	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	58	0	0	0	1	0	6	58				
PCDH20	64881	broad.mit.edu	37	13	61987072	61987072	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr13:61987072C>T	ENST00000409186.1	-	5	3265	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	PCDH20_ENST00000409204.4_Missense_Mutation_p.G387E			Q8N6Y1	PCD20_HUMAN	protocadherin 20	387	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AACACTTCCTCCAATCTTACT	0.398																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1159-1161)gGa>gAa		protocadherin 20							100.0	97.0	98.0					13																	61987072		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987072C>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1160G>A	13.37:g.61987072C>T	ENSP00000386653:p.Gly387Glu					PCDH20_ENST00000409204.4_Missense_Mutation_p.G387E	p.G387E			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3265	-		Breast(118;0.195)|Prostate(109;0.229)	360			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1160G>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	6.387	0.439475	0.12104	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.48201	0.82;0.82	5.91	5.06	0.68205	.	0.097560	0.45867	D	0.000327	T	0.31199	0.0789	N	0.16743	0.435	0.34264	D	0.68021	B	0.30146	0.27	B	0.31812	0.136	T	0.45160	-0.9280	10	0.87932	D	0	.	8.0351	0.30488	0.0:0.7614:0.0:0.2386	.	387	A8K1K9	.	E	387;387;133	ENSP00000387250:G387E;ENSP00000386653:G387E	ENSP00000351500:G133E	G	-	2	0	PCDH20	60885073	0.994000	0.37717	0.940000	0.37924	0.178000	0.23041	2.649000	0.46656	2.813000	0.96785	0.655000	0.94253	GGA		0.398	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		8	100	0	0	0	1	0	8	100				
GAST	2520	broad.mit.edu	37	17	39871798	39871798	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:39871798G>A	ENST00000329402.3	+	2	177	c.110G>A	c.(109-111)gGg>gAg	p.G37E	RNA5SP442_ENST00000365050.1_RNA|JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	37					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTAGGTACAGGGGCCAACAGG	0.627																																						ENST00000329402.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(109-111)gGg>gAg		gastrin							85.0	87.0	86.0					17																	39871798		2203	4300	6503	SO:0001583	missense	2520					extracellular region	hormone activity	g.chr17:39871798G>A		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"""Endogenous ligands"""	4164	protein-coding gene	gene with protein product	"""preprogastrin"""	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.110G>A	17.37:g.39871798G>A	ENSP00000331358:p.Gly37Glu					JUP_ENST00000540235.1_Intron	p.G37E	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		2	177	+		Breast(137;0.000307)	37					P78463|P78464	Missense_Mutation	SNP	ENST00000329402.3	37	c.110G>A	CCDS11404.1	.	.	.	.	.	.	.	.	.	.	G	7.319	0.616532	0.14129	.	.	ENSG00000184502	ENST00000329402	T	0.26223	1.75	4.56	-8.38	0.00973	Gastrin/cholecystokinin peptide hormone (1);	1.382690	0.04550	N	0.389646	T	0.16938	0.0407	L	0.57536	1.79	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.27262	-1.0079	10	0.13108	T	0.6	-0.7376	2.181	0.03874	0.1898:0.261:0.3953:0.1539	.	37	P01350	GAST_HUMAN	E	37	ENSP00000331358:G37E	ENSP00000331358:G37E	G	+	2	0	GAST	37125324	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-1.057000	0.03486	-1.300000	0.02341	-0.262000	0.10625	GGG		0.627	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1			8	147	0	0	0	1	0	8	147				
LSM11	134353	broad.mit.edu	37	5	157178479	157178479	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:157178479A>G	ENST00000286307.5	+	2	586	c.530A>G	c.(529-531)aAg>aGg	p.K177R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	177	SM 1.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGCACTTTCAAGGGACTTCGG	0.507																																						ENST00000286307.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(529-531)aAg>aGg		LSM11, U7 small nuclear RNA associated							139.0	133.0	135.0					5																	157178479		2203	4300	6503	SO:0001583	missense	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157178479A>G	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.530A>G	5.37:g.157178479A>G	ENSP00000286307:p.Lys177Arg						p.K177R	NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	586	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	177			SM 1.		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	c.530A>G	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.858863	0.91433	.	.	ENSG00000155858	ENST00000286307	T	0.42900	0.96	5.87	5.87	0.94306	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	N	0.17872	0.535	0.58432	D	0.999992	D	0.52996	0.957	P	0.55785	0.784	T	0.47058	-0.9146	10	0.62326	D	0.03	-16.256	16.5764	0.84681	1.0:0.0:0.0:0.0	.	177	P83369	LSM11_HUMAN	R	177	ENSP00000286307:K177R	ENSP00000286307:K177R	K	+	2	0	LSM11	157111057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.488000	0.81441	2.371000	0.80710	0.533000	0.62120	AAG		0.507	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		7	90	0	0	0	1	0	7	90				
OR8U1	219417	broad.mit.edu	37	11	56143129	56143129	+	Silent	SNP	A	A	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:56143129A>T	ENST00000302270.1	+	1	30	c.30A>T	c.(28-30)acA>acT	p.T10T		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CCCAGGCGACAGAGTTTATTC	0.418																																						ENST00000302270.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39						c.(28-30)acA>acT		olfactory receptor, family 8, subfamily U, member 1							118.0	108.0	111.0					11																	56143129		1868	4098	5966	SO:0001819	synonymous_variant	219417							g.chr11:56143129A>T	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.30A>T	11.37:g.56143129A>T							p.T10T	NM_001005204.1	NP_001005204.1					1	30	+	Esophageal squamous(21;0.00448)								Silent	SNP	ENST00000302270.1	37	c.30A>T	CCDS41647.1																																																																																				0.418	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204		4	90	0	0	0	1	0	4	90				
GALNT6	11226	broad.mit.edu	37	12	51751986	51751986	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr12:51751986G>T	ENST00000543196.2	-	8	1633	c.1428C>A	c.(1426-1428)aaC>aaA	p.N476K	GALNT6_ENST00000356317.3_Missense_Mutation_p.N476K			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	476					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACCAGGAAAAGTTGTGACAGT	0.517																																						ENST00000543196.2																			0				endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1426-1428)aaC>aaA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)							283.0	227.0	246.0					12																	51751986		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51751986G>T	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1428C>A	12.37:g.51751986G>T	ENSP00000444171:p.Asn476Lys					GALNT6_ENST00000356317.3_Missense_Mutation_p.N476K	p.N476K			Q8NCL4	GALT6_HUMAN			8	1633	-			476					Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.1428C>A	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	g	15.05	2.718766	0.48622	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.28895	1.59;1.59	4.0	4.0	0.46444	.	0.139109	0.64402	D	0.000005	T	0.29491	0.0735	M	0.62088	1.915	0.48975	D	0.999737	P	0.44260	0.83	B	0.39185	0.293	T	0.14671	-1.0464	10	0.66056	D	0.02	.	10.1076	0.42544	0.0988:0.0:0.9012:0.0	.	476	Q8NCL4	GALT6_HUMAN	K	476;476;457	ENSP00000444171:N476K;ENSP00000348668:N476K	ENSP00000348668:N476K	N	-	3	2	GALNT6	50038253	1.000000	0.71417	0.998000	0.56505	0.743000	0.42351	2.139000	0.42149	2.518000	0.84900	0.457000	0.33378	AAC		0.517	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		21	100	1	0	2.27731e-05	1	2.41745e-05	21	100				
TIE1	7075	broad.mit.edu	37	1	43783268	43783268	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTGACTTTGCGGGAGAACTG	0.502																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2653-2655)gCg>gTg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							165.0	180.0	175.0					1																	43783268		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783268C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2654C>T	1.37:g.43783268C>T	ENSP00000361554:p.Ala885Val					TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	p.A885V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			16	2733	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	885			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2654C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120241	0.77323	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.82167	-1.58;-1.58	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001216	T	0.67562	0.2906	L	0.28115	0.83	0.80722	D	1	D;P;D	0.58268	0.982;0.908;0.982	B;B;B	0.32928	0.155;0.055;0.155	T	0.72357	-0.4318	10	0.02654	T	1	.	19.7383	0.96217	0.0:1.0:0.0:0.0	.	840;530;885	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	V	885;288;168;530	ENSP00000361554:A885V;ENSP00000411728:A530V	ENSP00000361553:A288V	A	+	2	0	TIE1	43555855	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.818000	0.86416	2.675000	0.91044	0.655000	0.94253	GCG		0.502	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		5	257	0	0	0	1	0	5	257				
ST18	9705	broad.mit.edu	37	8	53079464	53079464	+	Silent	SNP	C	C	T	rs73587538		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr8:53079464C>T	ENST00000276480.7	-	11	1835	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	384					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGCGGTGGTGCGGGTAGAGCC	0.557																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1150-1152)ccG>ccA		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							105.0	104.0	105.0					8																	53079464		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53079464C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1152G>A	8.37:g.53079464C>T							p.P384P	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			11	1835	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	384					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.1152G>A	CCDS6149.1																																																																																				0.557	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			5	106	0	0	0	1	0	5	106				
ASXL3	80816	broad.mit.edu	37	18	31323665	31323665	+	Missense_Mutation	SNP	A	A	G	rs548915343		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr18:31323665A>G	ENST00000269197.5	+	12	3853	c.3853A>G	c.(3853-3855)Atc>Gtc	p.I1285V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1285	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTTAAAAACCATCCAGGGAAC	0.408																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(3853-3855)Atc>Gtc		additional sex combs like 3 (Drosophila)							84.0	81.0	82.0					18																	31323665		1905	4119	6024	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323665A>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3853A>G	18.37:g.31323665A>G	ENSP00000269197:p.Ile1285Val						p.I1285V	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	3853	+			1285			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3853A>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.041698	0.35989	.	.	ENSG00000141431	ENST00000269197	T	0.17213	2.29	5.92	4.76	0.60689	.	.	.	.	.	T	0.14098	0.0341	L	0.29908	0.895	0.32105	N	0.590129	B	0.06786	0.001	B	0.06405	0.002	T	0.05354	-1.0890	9	0.44086	T	0.13	.	12.0109	0.53286	0.9326:0.0:0.0674:0.0	.	1285	Q9C0F0	ASXL3_HUMAN	V	1285	ENSP00000269197:I1285V	ENSP00000269197:I1285V	I	+	1	0	ASXL3	29577663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.593000	0.46180	1.062000	0.40625	0.533000	0.62120	ATC		0.408	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			17	70	0	0	0	1	0	17	70				
PCDHA3	56145	broad.mit.edu	37	5	140181052	140181052	+	Silent	SNP	A	A	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:140181052A>C	ENST00000522353.2	+	1	270	c.270A>C	c.(268-270)atA>atC	p.I90I	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.I90I|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	90	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATAGACCGCGAGG	0.592																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(268-270)atA>atC									124.0	140.0	135.0					5																	140181052		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140181052A>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.270A>C	5.37:g.140181052A>C						PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.I90I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	p.I90I	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	270	+								O75286	Silent	SNP	ENST00000522353.2	37	c.270A>C	CCDS54915.1																																																																																				0.592	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	292	0	0	0	1	0	5	292				
STAB2	55576	broad.mit.edu	37	12	104099417	104099417	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr12:104099417A>G	ENST00000388887.2	+	37	4112	c.3908A>G	c.(3907-3909)gAg>gGg	p.E1303G		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGGTAATGAGAAGAGGAGA	0.428																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(3907-3909)gAg>gGg		stabilin 2							127.0	109.0	115.0					12																	104099417		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104099417A>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3908A>G	12.37:g.104099417A>G	ENSP00000373539:p.Glu1303Gly						p.E1303G	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			37	4112	+			1303						Missense_Mutation	SNP	ENST00000388887.2	37	c.3908A>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.685408	0.47991	.	.	ENSG00000136011	ENST00000388887	T	0.64438	-0.1	5.76	5.76	0.90799	Growth factor, receptor (1);	0.614265	0.17467	N	0.173216	T	0.50650	0.1628	N	0.25031	0.7	0.38744	D	0.953956	P	0.46706	0.883	B	0.44224	0.444	T	0.50338	-0.8840	10	0.24483	T	0.36	.	12.3036	0.54889	0.8734:0.0:0.0:0.1266	.	1303	Q8WWQ8	STAB2_HUMAN	G	1303	ENSP00000373539:E1303G	ENSP00000373539:E1303G	E	+	2	0	STAB2	102623547	1.000000	0.71417	0.821000	0.32701	0.019000	0.09904	3.161000	0.50747	2.209000	0.71365	0.533000	0.62120	GAG		0.428	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			7	30	0	0	0	1	0	7	30				
CRISP1	167	broad.mit.edu	37	6	49814258	49814258	+	Missense_Mutation	SNP	T	T	C	rs185407783		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:49814258T>C	ENST00000335847.4	-	5	511	c.410A>G	c.(409-411)gAc>gGc	p.D137G	CRISP1_ENST00000536021.1_Missense_Mutation_p.D137G|CRISP1_ENST00000329411.5_Missense_Mutation_p.D137G|CRISP1_ENST00000507853.1_Missense_Mutation_p.D137G|CRISP1_ENST00000355791.2_Missense_Mutation_p.D137G|CRISP1_ENST00000505118.1_Missense_Mutation_p.D137G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	137	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					AGTAGTTATGTCATCATCCGT	0.403																																						ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(409-411)gAc>gGc		cysteine-rich secretory protein 1							433.0	341.0	372.0					6																	49814258		2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49814258T>C	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.410A>G	6.37:g.49814258T>C	ENSP00000338276:p.Asp137Gly					CRISP1_ENST00000507853.1_Missense_Mutation_p.D137G|CRISP1_ENST00000355791.2_Missense_Mutation_p.D137G|CRISP1_ENST00000329411.5_Missense_Mutation_p.D137G|CRISP1_ENST00000536021.1_Missense_Mutation_p.D137G|CRISP1_ENST00000505118.1_Missense_Mutation_p.D137G	p.D137G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN			5	511	-	Lung NSC(77;0.0358)		137					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.410A>G	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	T	3.323	-0.138241	0.06669	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12	5.35	-10.7	0.00240	CAP domain (3);	1.042900	0.07610	N	0.925165	T	0.00666	0.0022	N	0.05259	-0.085	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.45160	-0.9280	9	.	.	.	.	4.7286	0.12954	0.2499:0.4711:0.0922:0.1868	.	137;137	P54107-2;P54107	.;CRIS1_HUMAN	G	137	ENSP00000425020:D137G;ENSP00000338276:D137G;ENSP00000348044:D137G;ENSP00000331317:D137G;ENSP00000427589:D137G;ENSP00000441798:D137G	.	D	-	2	0	CRISP1	49922217	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.218000	0.02976	-2.433000	0.00555	-1.054000	0.02325	GAC		0.403	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		6	79	0	0	0	1	0	6	79				
FAM92A1P2	403315	broad.mit.edu	37	4	183959255	183959255	+	RNA	SNP	C	C	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:183959255C>A	ENST00000502308.1	+	0	438					NR_003612.1				family with sequence similarity 92, member A1 pseudogene 2																		ACGGGATGACCCCAAAGCAAC	0.418																																						ENST00000502308.1																			0																																																			0							g.chr4:183959255C>A	BC022019		4q35.1	2012-04-19	2012-04-19	2012-04-19	ENSG00000230219	ENSG00000230219			32287	pseudogene	pseudogene			"""family with sequence similarity 92, member A3"""	FAM92A3		12477932	Standard	NR_003612		Approved	MGC71735, MGC102964	uc003ivi.4		OTTHUMG00000160675		4.37:g.183959255C>A								NR_003612.1						0	438	+									RNA	SNP	ENST00000502308.1	37																																																																																						0.418	FAM92A1P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361814.1			3	20	1	0	0.004672	1	0.00481146	3	20				
TINAG	27283	broad.mit.edu	37	6	54254705	54254705	+	Silent	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:54254705G>A	ENST00000259782.4	+	11	1509	c.1413G>A	c.(1411-1413)acG>acA	p.T471T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	471					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCCAACTGACGAGTTCTGATG	0.408																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1411-1413)acG>acA		tubulointerstitial nephritis antigen							126.0	124.0	125.0					6																	54254705		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54254705G>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1413G>A	6.37:g.54254705G>A							p.T471T	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		11	1509	+	Lung NSC(77;0.0518)		471					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.1413G>A	CCDS4955.1																																																																																				0.408	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		9	123	0	0	0	1	0	9	123				
JAKMIP3	282973	broad.mit.edu	37	10	133967332	133967332	+	Splice_Site	SNP	G	G	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr10:133967332G>T	ENST00000298622.4	+	17	2274		c.e17+1		JAKMIP3_ENST00000477275.1_Splice_Site	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3							Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAGCGAGAAGGTTGGTGGCAC	0.592																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.e17+1		Janus kinase and microtubule interacting protein 3							137.0	137.0	137.0					10																	133967332		2203	4300	6503	SO:0001630	splice_region_variant	282973							g.chr10:133967332G>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2136+1G>T	10.37:g.133967332G>T						JAKMIP3_ENST00000477275.1_Splice_Site		NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	17	2274	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Splice_Site	SNP	ENST00000298622.4	37		CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547593	0.86022	.	.	ENSG00000188385	ENST00000298622	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7977	0.88578	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	JAKMIP3	133817322	1.000000	0.71417	0.994000	0.49952	0.926000	0.56050	9.251000	0.95483	2.185000	0.69588	0.585000	0.79938	.		0.592	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	Intron	12	178	1	0	2.80697e-09	1	3.07431e-09	12	178				
CHERP	10523	broad.mit.edu	37	19	16640580	16640580	+	Silent	SNP	T	T	C	rs528619775	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:16640580T>C	ENST00000198939.6	-	8	1077	c.1041A>G	c.(1039-1041)caA>caG	p.Q347Q	CHERP_ENST00000546361.2_Silent_p.Q336Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein									p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgctgttgctgctgct	0.667													T|||	23	0.00459265	0.0129	0.0043	5008	,	,		16097	0.001		0.001	False		,,,				2504	0.001					ENST00000546361.2																			2	Substitution - coding silent(2)	p.Q336Q(2)	lung(2)	endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1006-1008)caA>caG		calcium homeostasis endoplasmic reticulum protein							21.0	29.0	26.0					19																	16640580		2193	4293	6486	SO:0001819	synonymous_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640580T>C	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1041A>G	19.37:g.16640580T>C						CHERP_ENST00000198939.6_Silent_p.Q347Q|CTD-3222D19.2_ENST00000409035.1_Intron	p.Q336Q	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1159	-			336			Gln-rich.			Silent	SNP	ENST00000198939.6	37	c.1008A>G																																																																																					0.667	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		4	43	0	0	0	1	0	4	43				
BCRP7	100133163	broad.mit.edu	37	22	18845939	18845939	+	3'UTR	SNP	G	G	A	rs4473486		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr22:18845939G>A	ENST00000412938.1	+	0	3297																											TGCCTGGGCCGTGGAGCACTC	0.483																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18845939G>A																												ENST00000412938.1:c.*3294G>A	22.37:g.18845939G>A														0	3297	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.483	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	34	0	0	0	1	0	4	34				
ITIH3	3699	broad.mit.edu	37	3	52836815	52836815	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr3:52836815G>A	ENST00000449956.2	+	13	1708	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	568					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCAGCTGCTGGAGAAGCGGTG	0.622																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(1702-1704)Gag>Aag		inter-alpha-trypsin inhibitor heavy chain 3							56.0	62.0	60.0					3																	52836815		2101	4259	6360	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52836815G>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1702G>A	3.37:g.52836815G>A	ENSP00000415769:p.Glu568Lys					ITIH3_ENST00000416872.2_Intron	p.E568K	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	13	1708	+			568					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.1702G>A	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161124	0.78226	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000449956	T	0.17054	2.3	5.28	5.28	0.74379	.	0.277370	0.39687	N	0.001290	T	0.22704	0.0548	M	0.66439	2.03	0.45867	D	0.998723	P	0.39071	0.658	B	0.37047	0.24	T	0.01810	-1.1269	9	.	.	.	-16.5601	17.8577	0.88771	0.0:0.0:1.0:0.0	.	568	Q06033	ITIH3_HUMAN	K	568;556;563;568	ENSP00000415769:E568K	.	E	+	1	0	ITIH3	52811855	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.730000	0.74780	2.746000	0.94184	0.655000	0.94253	GAG		0.622	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		4	33	0	0	0	1	0	4	33				
CIITA	4261	broad.mit.edu	37	16	11002910	11002910	+	Silent	SNP	G	G	A	rs148091568	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr16:11002910G>A	ENST00000324288.8	+	12	2815	c.2682G>A	c.(2680-2682)gcG>gcA	p.A894A	CIITA_ENST00000381835.5_Silent_p.A310A|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	894					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.A894A(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACACGGTGGCGCTGTGGGAGT	0.602			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								G|||	5	0.000998403	0.0008	0.0014	5008	,	,		19642	0.003		0.0	False		,,,				2504	0.0					ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		1	Substitution - coding silent(1)	p.A894A(1)	endometrium(1)	central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(2680-2682)gcG>gcA		class II, major histocompatibility complex, transactivator		G		6,4388	11.4+/-27.6	0,6,2191	60.0	45.0	50.0		2682	3.9	0.8	16	dbSNP_134	50	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CIITA	NM_000246.3		0,8,6489	AA,AG,GG		0.0233,0.1365,0.0616		894/1131	11002910	8,12986	2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11002910G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2682G>A	16.37:g.11002910G>A						CIITA_ENST00000381835.5_Silent_p.A310A|CIITA_ENST00000537380.1_Intron	p.A894A	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			12	2815	+			894					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.2682G>A	CCDS10544.1																																																																																				0.602	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		7	56	0	0	0	1	0	7	56				
RBPJL	11317	broad.mit.edu	37	20	43945326	43945326	+	Splice_Site	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr20:43945326G>A	ENST00000343694.3	+	12	1353	c.1281G>A	c.(1279-1281)agG>agA	p.R427R	RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Intron|RBPJL_ENST00000372741.3_Splice_Site_p.E431K	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	427	IPT/TIG.				positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCACCCCCAGGAGCCCGCGGT	0.726																																						ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e12-1		recombination signal binding protein for immunoglobulin kappa J region-like							19.0	22.0	21.0					20																	43945326		2185	4248	6433	SO:0001630	splice_region_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43945326G>A	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1281-1G>A	20.37:g.43945326G>A						RBPJL_ENST00000372741.3_Splice_Site_p.E431_splice|RBPJL_ENST00000372743.1_Intron|RBPJL_ENST00000464504.1_3'UTR	p.R427_splice	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			12	1353	+		Myeloproliferative disorder(115;0.0122)	427			IPT/TIG.		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Splice_Site	SNP	ENST00000343694.3	37	c.1280_splice	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397372	0.62177	.	.	ENSG00000124232	ENST00000372741	T	0.57436	0.4	4.94	4.94	0.65067	.	.	.	.	.	T	0.54870	0.1885	.	.	.	0.80722	D	1	P	0.52842	0.956	P	0.47528	0.549	T	0.55302	-0.8162	7	.	.	.	.	15.7304	0.77800	0.0:0.0:1.0:0.0	.	431	Q5QPV1	.	K	431	ENSP00000361826:E431K	.	E	+	1	0	RBPJL	43378740	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	5.325000	0.65869	2.442000	0.82660	0.549000	0.68633	GAG		0.726	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276	Silent	3	14	0	0	0	1	0	3	14				
NKX3-2	579	broad.mit.edu	37	4	13543758	13543758	+	Silent	SNP	G	G	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:13543758G>C	ENST00000382438.5	-	2	1496	c.861C>G	c.(859-861)cgC>cgG	p.R287R		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	287					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCTGGTCGTCGCGCACCAGCA	0.647																																						ENST00000382438.5																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(859-861)cgC>cgG		NK3 homeobox 2							34.0	31.0	32.0					4																	13543758		2202	4300	6502	SO:0001819	synonymous_variant	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13543758G>C	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.861C>G	4.37:g.13543758G>C							p.R287R	NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN			2	1496	-			287					Q2M2I7	Silent	SNP	ENST00000382438.5	37	c.861C>G	CCDS3410.1																																																																																				0.647	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			7	19	0	0	0	1	0	7	19				
BEST1	7439	broad.mit.edu	37	11	61724345	61724345	+	Silent	SNP	T	T	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:61724345T>C	ENST00000378043.4	+	5	1154	c.511T>C	c.(511-513)Ttg>Ctg	p.L171L	BEST1_ENST00000449131.2_Silent_p.L111L|BEST1_ENST00000526988.1_Silent_p.L65L|BEST1_ENST00000378042.3_Silent_p.L111L|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000435278.2_Silent_p.L171L	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	171					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						ACACAAGCAGTTGGAGAAACT	0.577																																						ENST00000449131.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(331-333)Ttg>Ctg		bestrophin 1							194.0	192.0	193.0					11																	61724345		2202	4299	6501	SO:0001819	synonymous_variant	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61724345T>C	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.511T>C	11.37:g.61724345T>C						BEST1_ENST00000435278.2_Silent_p.L171L|BEST1_ENST00000378042.3_Silent_p.L111L|BEST1_ENST00000378043.4_Silent_p.L171L|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000526988.1_Silent_p.L65L	p.L111L	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN			4	417	+			171					A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	ENST00000378043.4	37	c.331T>C	CCDS31580.1																																																																																				0.577	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		29	264	0	0	0	1	0	29	264				
FFAR2	2867	broad.mit.edu	37	19	35941277	35941277	+	Missense_Mutation	SNP	G	G	A	rs61746520	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:35941277G>A	ENST00000599180.2	+	2	741	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	FFAR2_ENST00000246549.2_Missense_Mutation_p.V221M|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	221					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCGCCGAGCCGTGGGGCTGGC	0.602													G|||	16	0.00319489	0.0121	0.0	5008	,	,		16344	0.0		0.0	False		,,,				2504	0.0				GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(661-663)Gtg>Atg		free fatty acid receptor 2		G	MET/VAL	63,4343	56.8+/-93.2	1,61,2141	63.0	67.0	66.0		661	2.2	0.2	19	dbSNP_129	66	0,8600		0,0,4300	yes	missense	FFAR2	NM_005306.2	21	1,61,6441	AA,AG,GG		0.0,1.4299,0.4844	benign	221/331	35941277	63,12943	2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941277G>A	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.661G>A	19.37:g.35941277G>A	ENSP00000473159:p.Val221Met					FFAR2_ENST00000246549.2_Missense_Mutation_p.V221M|FFAR2_ENST00000601590.1_Intron	p.V221M			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	741	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		221					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.661G>A	CCDS12461.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	1.680	-0.506789	0.04231	0.014299	0.0	ENSG00000126262	ENST00000246549	T	0.73469	-0.75	5.49	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.159452	0.47852	N	0.000207	T	0.46308	0.1386	L	0.33710	1.025	0.31513	N	0.663294	P	0.44006	0.824	B	0.31442	0.13	T	0.56739	-0.7929	10	0.41790	T	0.15	-20.6123	8.2567	0.31760	0.3005:0.0:0.6995:0.0	rs61746520	221	O15552	FFAR2_HUMAN	M	221	ENSP00000246549:V221M	ENSP00000246549:V221M	V	+	1	0	FFAR2	40633117	0.992000	0.36948	0.201000	0.23476	0.043000	0.13939	2.473000	0.45145	0.403000	0.25479	-0.219000	0.12488	GTG		0.602	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		9	120	0	0	0	1	0	9	120				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	41	0	0	0	1	0	3	41				
C6orf165	154313	broad.mit.edu	37	6	88125415	88125415	+	Missense_Mutation	SNP	G	G	A	rs377549577		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:88125415G>A	ENST00000507897.1	+	5	378	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	C6ORF165_ENST00000369562.4_Missense_Mutation_p.E99K			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	99										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GGAATTTCTCGAAGAACATCA	0.363																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(295-297)Gaa>Aaa		chromosome 6 open reading frame 165		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	64.0	67.0	66.0		295	3.8	0.9	6		66	2,8596	1.2+/-3.3	0,2,4297	no	missense	C6orf165	NM_001031743.2	56	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	benign	99/623	88125415	3,13001	2203	4299	6502	SO:0001583	missense	154313							g.chr6:88125415G>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.295G>A	6.37:g.88125415G>A	ENSP00000426769:p.Glu99Lys					C6ORF165_ENST00000369562.4_Missense_Mutation_p.E99K	p.E99K			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	5	378	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	99					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.295G>A	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698468	0.30142	2.27E-4	2.33E-4	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.22336	1.96;1.96	5.6	3.78	0.43462	.	0.300125	0.34777	N	0.003696	T	0.04497	0.0123	L	0.31207	0.915	0.39753	D	0.971913	B;B	0.24576	0.106;0.029	B;B	0.18561	0.022;0.007	T	0.24083	-1.0170	10	0.12430	T	0.62	.	8.2837	0.31915	0.1065:0.3487:0.5448:0.0	.	99;99	Q8IYR0;E1P509	CF165_HUMAN;.	K	99	ENSP00000358575:E99K;ENSP00000422494:E99K	ENSP00000358575:E99K	E	+	1	0	C6orf165	88182134	0.966000	0.33281	0.924000	0.36721	0.928000	0.56348	1.551000	0.36233	0.665000	0.31066	0.585000	0.79938	GAA		0.363	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		3	48	0	0	0	1	0	3	48				
MYCBP	26292	broad.mit.edu	37	1	39330370	39330370	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr1:39330370G>A	ENST00000397572.2	-	5	1083	c.284C>T	c.(283-285)cCa>cTa	p.P95L	RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000454994.2_3'UTR|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR	NM_012333.4	NP_036465.2	Q99417	MYCBP_HUMAN	MYC binding protein	95					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)				CTCCTGAGGTGGTTCATACTG	0.328																																					Esophageal Squamous(155;912 1855 21572 25911 44247)	ENST00000397572.2																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(283-285)cCa>cTa		MYC binding protein							76.0	71.0	73.0					1																	39330370		2203	4300	6503	SO:0001583	missense	26292				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	mitochondrion|nucleus	protein binding|transcription coactivator activity	g.chr1:39330370G>A	AB007191	CCDS431.1	1p33-p32.2	2013-07-09	2013-07-09		ENSG00000214114	ENSG00000214114			7554	protein-coding gene	gene with protein product	"""associate of myc-1"""	606535	"""c-myc binding protein"""			9797456	Standard	NM_012333		Approved	AMY-1	uc001ccs.3	Q99417	OTTHUMG00000000484	ENST00000397572.2:c.284C>T	1.37:g.39330370G>A	ENSP00000380702:p.Pro95Leu					GJA9_ENST00000454994.2_3'UTR|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA	p.P95L	NM_012333.4	NP_036465.2	Q99417	MYCBP_HUMAN			5	1083	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	95					B2R4N0|Q5TA64|Q96HE2	Missense_Mutation	SNP	ENST00000397572.2	37	c.284C>T	CCDS431.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531931	0.45073	.	.	ENSG00000214114	ENST00000397572	.	.	.	5.51	5.51	0.81932	.	0.138665	0.48767	U	0.000169	T	0.54615	0.1869	L	0.29908	0.895	0.80722	D	1	B	0.19073	0.033	B	0.23018	0.043	T	0.52888	-0.8515	9	0.66056	D	0.02	0.7227	17.5956	0.88011	0.0:0.0:1.0:0.0	.	95	Q99417	MYCBP_HUMAN	L	95	.	ENSP00000380702:P95L	P	-	2	0	MYCBP	39102957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.033000	0.64146	2.577000	0.86979	0.563000	0.77884	CCA		0.328	MYCBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001209.1	NM_012333		9	47	0	0	0	1	0	9	47				
GOLGA8EP	390535	broad.mit.edu	37	15	23441125	23441125	+	RNA	SNP	T	T	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr15:23441125T>A	ENST00000526079.1	+	0	1204				RN7SL106P_ENST00000488468.2_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene																		AAATATCGGGTAGAGACGCTG	0.567																																						ENST00000526079.1																			0																				44.0	54.0	51.0					15																	23441125		1343	2514	3857			0							g.chr15:23441125T>A			15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23441125T>A								NR_027407.1|NR_033350.1						0	1204	+									RNA	SNP	ENST00000526079.1	37																																																																																						0.567	GOLGA8EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393312.1	NR_033350.1		9	282	0	0	0	1	0	9	282				
AGBL1	123624	broad.mit.edu	37	15	86838484	86838484	+	Splice_Site	SNP	A	A	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr15:86838484A>C	ENST00000441037.2	+	16	2177		c.e16-1		AGBL1_ENST00000389298.3_Splice_Site|AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000421325.2_Splice_Site|AGBL1-AS1_ENST00000566878.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1						C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTTCTGCTCCAGACTCATCTT	0.398																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.e16-1		ATP/GTP binding protein-like 1							46.0	46.0	46.0					15																	86838484		1877	4104	5981	SO:0001630	splice_region_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838484A>C	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2083-1A>C	15.37:g.86838484A>C						AGBL1_ENST00000421325.2_Splice_Site|AGBL1_ENST00000389298.3_Splice_Site		NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			16	2177	+								A1A4X5|A6NJH6|C9JHL5	Splice_Site	SNP	ENST00000441037.2	37		CCDS58398.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842447	0.32513	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5211	0.61568	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGBL1	84639488	1.000000	0.71417	0.985000	0.45067	0.180000	0.23129	7.213000	0.77950	2.133000	0.65898	0.528000	0.53228	.		0.398	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	Intron	5	28	0	0	0	1	0	5	28				
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr1:8716284_8716285delTC	ENST00000337907.3	-	3	706_707	c.72_73delGA	c.(70-75)gagaaafs	p.K25fs	RERE_ENST00000400907.2_Frame_Shift_Del_p.K25fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.K25fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	25					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCTCTTTTCtctctctctc	0.505																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(70-75)gaaafs		arginine-glutamic acid dipeptide (RE) repeats																																				SO:0001589	frameshift_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716284_8716285delTC	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.72_73delGA	1.37:g.8716294_8716295delTC	ENSP00000338629:p.Lys25fs					RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs	p.EK24fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	706_707	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	24					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Del	DEL	ENST00000337907.3	37	c.72_73delGA	CCDS95.1																																																																																				0.505	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			8	225						8	225	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TTTCTTTCCCttttttttttt	0.512																																						ENST00000457166.1																			0																																																			0							g.chr7:66304731delT			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304731delT								NR_003934.1						0	189	-									RNA	DEL	ENST00000457166.1	37																																																																																						0.512	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		2	4						2	4	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48866909	48866910	+	Frame_Shift_Ins	INS	-	-	T	rs537061158	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr8:48866909_48866910insT	ENST00000314191.2	-	5	552_553	c.496_497insA	c.(496-498)atafs	p.I166fs	PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.I166fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	166					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTATCTGGTATTTTTTTTTTC	0.267								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(496-498)accfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide																																				SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48866909_48866910insT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.497dupA	8.37:g.48866919_48866919dupT	ENSP00000313420:p.Ile166fs					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.T166fs	p.T166fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			5	552_553	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	166					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Ins	INS	ENST00000314191.2	37	c.496_497insA																																																																																					0.267	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	2						3	2	---	---	---	---
MAPK7	5598	broad.mit.edu	37	17	19285244	19285244	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:19285244delG	ENST00000308406.5	+	5	2014	c.1628delG	c.(1627-1629)cggfs	p.R543fs	MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Frame_Shift_Del_p.R404fs|MAPK7_ENST00000395604.3_Frame_Shift_Del_p.R543fs|MAPK7_ENST00000395602.4_Frame_Shift_Del_p.R543fs|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	543	Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					cgaaaggaacggggggctggg	0.677																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(1627-1629)cgfs		mitogen-activated protein kinase 7							11.0	23.0	19.0					17																	19285244		2033	4019	6052	SO:0001589	frameshift_variant	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19285244delG	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1628delG	17.37:g.19285244delG	ENSP00000311005:p.Arg543fs					MAPK7_ENST00000299612.7_Frame_Shift_Del_p.R404fs|MAPK7_ENST00000395602.4_Frame_Shift_Del_p.R543fs|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Frame_Shift_Del_p.R543fs	p.R543fs	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			5	2014	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		543			Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Frame_Shift_Del	DEL	ENST00000308406.5	37	c.1628delG	CCDS11206.1																																																																																				0.677	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		2	4						2	4	---	---	---	---
RBBP8NL	140893	broad.mit.edu	37	20	60990678	60990678	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr20:60990678delT	ENST00000252998.1	-	8	739	c.583delA	c.(583-585)atcfs	p.I195fs		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	195						extracellular space (GO:0005615)											CCTGGGGAGATTTTGGCCACT	0.677																																						ENST00000252998.1																			0											c.(583-585)tcfs		RBBP8 N-terminal like							60.0	68.0	65.0					20																	60990678		2203	4299	6502	SO:0001589	frameshift_variant	140893							g.chr20:60990678delT	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.583delA	20.37:g.60990678delT	ENSP00000252998:p.Ile195fs						p.I195fs	NM_080833.2	NP_543023.2					8	739	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Frame_Shift_Del	DEL	ENST00000252998.1	37	c.583delA	CCDS13498.1																																																																																				0.677	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		7	219						7	219	---	---	---	---
