#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
ADAMTS2	9509	broad.mit.edu	37	5	178552090	178552090	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr5:178552090C>T	ENST00000251582.7	-	19	2943	c.2842G>A	c.(2842-2844)Gac>Aac	p.D948N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	948	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGGTGTTGTCGTGTAGCGGC	0.692																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2842-2844)Gac>Aac		ADAM metallopeptidase with thrombospondin type 1 motif, 2							112.0	113.0	113.0					5																	178552090		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552090C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2842G>A	5.37:g.178552090C>T	ENSP00000251582:p.Asp948Asn						p.D948N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2943	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	948			TSP type-1 3.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2842G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775731	0.02951	.	.	ENSG00000087116	ENST00000251582	T	0.53857	0.6	5.31	2.0	0.26442	.	0.301971	0.27792	N	0.017833	T	0.26774	0.0655	N	0.12422	0.21	0.80722	D	1	B	0.24317	0.101	B	0.22601	0.04	T	0.10730	-1.0617	10	0.06757	T	0.87	.	8.4694	0.32975	0.0:0.7177:0.0:0.2823	.	948	O95450	ATS2_HUMAN	N	948	ENSP00000251582:D948N	ENSP00000251582:D948N	D	-	1	0	ADAMTS2	178484696	0.966000	0.33281	0.957000	0.39632	0.030000	0.12068	1.550000	0.36223	0.026000	0.15269	-1.140000	0.01884	GAC		0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		4	196	0	0	0	1	0	4	196				
PAX1	5075	broad.mit.edu	37	20	21689898	21689898	+	Silent	SNP	C	C	T	rs201381441		TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr20:21689898C>T	ENST00000398485.2	+	4	1152	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	PAX1_ENST00000444366.2_Silent_p.P342P|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	366					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCTTTCTCCCCGCCTGCGCCT	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		11972	0.0		0.001	False		,,,				2504	0.0					ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1096-1098)ccC>ccT		paired box 1							54.0	67.0	63.0					20																	21689898		2195	4284	6479	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689898C>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1098C>T	20.37:g.21689898C>T						PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.P342P	p.P366P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			4	1152	+			366					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.1098C>T	CCDS13146.2																																																																																				0.711	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			42	62	0	0	0	1	0	42	62				
UNC79	57578	broad.mit.edu	37	14	94170982	94170982	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr14:94170982G>A	ENST00000393151.2	+	49	7677	c.7677G>A	c.(7675-7677)atG>atA	p.M2559I	UNC79_ENST00000555664.1_Missense_Mutation_p.M2520I|UNC79_ENST00000256339.4_Missense_Mutation_p.M2382I|UNC79_ENST00000553484.1_Missense_Mutation_p.M2581I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2559					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGATACCTATGTGGTTGCCAA	0.438																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7741-7743)atG>atA		unc-79 homolog (C. elegans)							184.0	174.0	177.0					14																	94170982		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94170982G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7677G>A	14.37:g.94170982G>A	ENSP00000376858:p.Met2559Ile					UNC79_ENST00000256339.4_Missense_Mutation_p.M2382I|UNC79_ENST00000393151.2_Missense_Mutation_p.M2559I|UNC79_ENST00000555664.1_Missense_Mutation_p.M2520I	p.M2581I			Q9P2D8	UNC79_HUMAN			50	7897	+			2559					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7743G>A		.	.	.	.	.	.	.	.	.	.	g	33	5.282132	0.95489	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20598	2.07;2.09;2.06;2.07	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	L	0.58101	1.795	0.80722	D	1	D	0.55385	0.971	D	0.63877	0.919	T	0.19031	-1.0318	10	0.72032	D	0.01	-28.5987	20.15	0.98084	0.0:0.0:1.0:0.0	.	2581	C9JQL1	.	I	2382;2520;2581;2559;2581	ENSP00000256339:M2382I;ENSP00000450868:M2520I;ENSP00000451360:M2581I;ENSP00000376858:M2559I	ENSP00000256339:M2382I	M	+	3	0	KIAA1409	93240735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.150000	0.94667	2.749000	0.94314	0.651000	0.88453	ATG		0.438	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		7	120	0	0	0	1	0	7	120				
GLI3	2737	broad.mit.edu	37	7	42004585	42004585	+	Silent	SNP	G	G	A			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:42004585G>A	ENST00000395925.3	-	15	4170	c.4086C>T	c.(4084-4086)agC>agT	p.S1362S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1362					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGGCAGGCAGCTCTCTGGCC	0.652									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(4084-4086)agC>agT		GLI family zinc finger 3							33.0	33.0	33.0					7																	42004585		2203	4299	6502	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42004585G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4086C>T	7.37:g.42004585G>A						GLI3_ENST00000479210.1_5'UTR	p.S1362S	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	4170	-			1362					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.4086C>T	CCDS5465.1																																																																																				0.652	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		25	25	0	0	0	1	0	25	25				
MUC16	94025	broad.mit.edu	37	19	9020016	9020016	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr19:9020016G>T	ENST00000397910.4	-	21	37682	c.37479C>A	c.(37477-37479)taC>taA	p.Y12493*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12495	SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						TGTCCAGGGTGTAGGGGCCCA	0.512																																						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.(37477-37479)taC>taA		mucin 16, cell surface associated							237.0	205.0	216.0					19																	9020016		1973	4160	6133	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9020016G>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.37479C>A	19.37:g.9020016G>T	ENSP00000381008:p.Tyr12493*						p.Y12493*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			21	37682	-			12495			SEA 3.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.37479C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	61	57.461472	0.99989	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.32	-0.537	0.11872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.6559	0.22986	0.3614:0.0:0.6386:0.0	.	.	.	.	X	12493	.	ENSP00000381008:Y12493X	Y	-	3	2	MUC16	8881016	0.982000	0.34865	0.000000	0.03702	0.209000	0.24338	1.183000	0.32041	-0.116000	0.11893	0.555000	0.69702	TAC		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	239	1	0	1.68575e-08	1	1.73132e-08	24	239				
GPR162	27239	broad.mit.edu	37	12	6935934	6935934	+	Silent	SNP	C	C	T			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr12:6935934C>T	ENST00000311268.3	+	5	2119	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA|GPR162_ENST00000382315.3_Silent_p.A140A|GPR162_ENST00000428545.2_Silent_p.A160A	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	444						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TCCTCCCAGCCCAGAGCCGGG	0.612																																						ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(1330-1332)gcC>gcT		G protein-coupled receptor 162							55.0	64.0	61.0					12																	6935934		2203	4300	6503	SO:0001819	synonymous_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6935934C>T	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1332C>T	12.37:g.6935934C>T						GPR162_ENST00000428545.2_Silent_p.A160A|GPR162_ENST00000382315.3_Silent_p.A140A	p.A444A	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			5	2119	+			444					Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.1332C>T	CCDS8563.1																																																																																				0.612	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		7	39	0	0	0	1	0	7	39				
MPDZ	8777	broad.mit.edu	37	9	13190215	13190215	+	Silent	SNP	T	T	C			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr9:13190215T>C	ENST00000319217.7	-	16	2299	c.2052A>G	c.(2050-2052)acA>acG	p.T684T	MPDZ_ENST00000381015.4_Silent_p.T684T|MPDZ_ENST00000381022.2_Silent_p.T684T|MPDZ_ENST00000536827.1_Silent_p.T684T|MPDZ_ENST00000447879.1_Silent_p.T684T|MPDZ_ENST00000546205.1_Silent_p.T684T|MPDZ_ENST00000541718.1_Silent_p.T684T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	684					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GAACCTCTTCTGTACTCTGAC	0.488																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(2050-2052)acA>acG		multiple PDZ domain protein							79.0	75.0	76.0					9																	13190215		2072	4217	6289	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13190215T>C	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2052A>G	9.37:g.13190215T>C						MPDZ_ENST00000381015.4_Silent_p.T684T|MPDZ_ENST00000447879.1_Silent_p.T684T|MPDZ_ENST00000541718.1_Silent_p.T684T|MPDZ_ENST00000536827.1_Silent_p.T684T|MPDZ_ENST00000381022.2_Silent_p.T684T|MPDZ_ENST00000546205.1_Silent_p.T684T	p.T684T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	16	2299	-			684					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.2052A>G																																																																																					0.488	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		4	18	0	0	0	1	0	4	18				
CYP19A1	1588	broad.mit.edu	37	15	51503017	51503017	+	Missense_Mutation	SNP	A	A	C			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr15:51503017A>C	ENST00000396402.1	-	10	1653	c.1500T>G	c.(1498-1500)tgT>tgG	p.C500W	CYP19A1_ENST00000396404.4_Missense_Mutation_p.C500W|CYP19A1_ENST00000260433.2_Missense_Mutation_p.C500W|CYP19A1_ENST00000559878.1_Missense_Mutation_p.C500W|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	500					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	AGTGTTCCAGACACCTGTCTG	0.448																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(1498-1500)tgT>tgG		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						222.0	214.0	217.0					15																	51503017		2196	4293	6489	SO:0001583	missense	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51503017A>C	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1500T>G	15.37:g.51503017A>C	ENSP00000379683:p.Cys500Trp					CYP19A1_ENST00000260433.2_Missense_Mutation_p.C500W|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.C500W|CYP19A1_ENST00000396404.4_Missense_Mutation_p.C500W	p.C500W	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	10	1653	-			500					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.1500T>G	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.382268	0.24944	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.70749	-0.51;-0.51;-0.51	4.93	2.97	0.34412	.	0.692542	0.14760	N	0.300072	T	0.53530	0.1802	L	0.36672	1.1	0.28521	N	0.91308	P	0.51933	0.949	B	0.36666	0.23	T	0.52845	-0.8521	10	0.59425	D	0.04	-0.4721	6.5953	0.22669	0.3047:0.0:0.6953:0.0	.	500	P11511	CP19A_HUMAN	W	500	ENSP00000379683:C500W;ENSP00000260433:C500W;ENSP00000379685:C500W	ENSP00000260433:C500W	C	-	3	2	CYP19A1	49290309	0.335000	0.24748	0.087000	0.20705	0.018000	0.09664	0.619000	0.24388	0.779000	0.33543	-0.177000	0.13119	TGT		0.448	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			5	181	0	0	0	1	0	5	181				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	48	0	0	0	1	0	4	48				
GABRA4	2557	broad.mit.edu	37	4	46967155	46967155	+	Missense_Mutation	SNP	G	G	T	rs41301813		TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr4:46967155G>T	ENST00000264318.3	-	8	1948	c.966C>A	c.(964-966)ttC>ttA	p.F322L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	322					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGACAGCTATGAACCAGTCCA	0.433																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(964-966)ttC>ttA		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						153.0	130.0	138.0					4																	46967155		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46967155G>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.966C>A	4.37:g.46967155G>T	ENSP00000264318:p.Phe322Leu						p.F322L	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			8	1948	-			322					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.966C>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966040	0.92855	.	.	ENSG00000109158	ENST00000264318	D	0.86769	-2.17	4.81	3.97	0.46021	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92113	0.7500	M	0.75447	2.3	0.58432	D	0.999992	D	0.69078	0.997	D	0.74348	0.983	D	0.92519	0.6023	10	0.87932	D	0	.	11.8776	0.52556	0.0836:0.0:0.9164:0.0	.	322	P48169	GBRA4_HUMAN	L	322	ENSP00000264318:F322L	ENSP00000264318:F322L	F	-	3	2	GABRA4	46661912	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.618000	0.67722	1.238000	0.43771	0.591000	0.81541	TTC		0.433	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			32	50	1	0	1.22384e-17	1	1.36782e-17	32	50				
ALG1L	200810	broad.mit.edu	37	3	125647387	125647387	+	IGR	SNP	G	G	A			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr3:125647387G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						ACCAGAAACTGTTTCCCTATG	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	100125556							g.chr3:125647387G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647387G>A								NR_024251.1						0	532	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		4	85	0	0	0	1	0	4	85				
TMPRSS11D	9407	broad.mit.edu	37	4	68693212	68693212	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr4:68693212G>A	ENST00000283916.6	-	8	817	c.719C>T	c.(718-720)gCc>gTc	p.A240V	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A123V|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	240	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACCAGACGTGGCAATCCAGTC	0.308																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(718-720)gCc>gTc		transmembrane protease, serine 11D							40.0	39.0	40.0					4																	68693212		2203	4299	6502	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68693212G>A	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.719C>T	4.37:g.68693212G>A	ENSP00000283916:p.Ala240Val					TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A123V|RP11-453E17.1_ENST00000500538.2_RNA	p.A240V	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			8	817	-			240			Peptidase S1.		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.719C>T	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	G	2.401	-0.337611	0.05278	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	T;T	0.48836	0.8;0.8	5.58	-2.82	0.05787	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.631703	0.14891	N	0.292439	T	0.12732	0.0309	N	0.00602	-1.34	0.23896	N	0.996531	B	0.17667	0.023	B	0.15870	0.014	T	0.34925	-0.9809	10	0.05620	T	0.96	.	11.2734	0.49153	0.6799:0.0:0.3201:0.0	.	240	O60235	TM11D_HUMAN	V	240;123	ENSP00000283916:A240V;ENSP00000442045:A123V	ENSP00000283916:A240V	A	-	2	0	TMPRSS11D	68375807	0.001000	0.12720	0.704000	0.30370	0.030000	0.12068	-0.281000	0.08456	-0.693000	0.05121	-0.136000	0.14681	GCC		0.308	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		3	40	0	0	0	1	0	3	40				
SRRM2	23524	broad.mit.edu	37	16	2818182	2818182	+	Silent	SNP	G	G	C	rs149616150	byFrequency	TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr16:2818182G>C	ENST00000301740.8	+	11	8202	c.7653G>C	c.(7651-7653)tcG>tcC	p.S2551S	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2551	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						cgtcgtcgtcgtcctcctcct	0.577													g|||	5	0.000998403	0.0008	0.0029	5008	,	,		16692	0.001		0.001	False		,,,				2504	0.0					ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7651-7653)tcG>tcC		serine/arginine repetitive matrix 2		G		0,4396		0,0,2198	66.0	58.0	61.0		7653	-11.8	0.0	16	dbSNP_134	61	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	SRRM2	NM_016333.3		0,4,6494	CC,CG,GG		0.0465,0.0,0.0308		2551/2753	2818182	4,12992	2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2818182G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7653G>C	16.37:g.2818182G>C						SRRM2_ENST00000574593.1_3'UTR	p.S2551S	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	8202	+			2551			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.7653G>C	CCDS32373.1																																																																																				0.577	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			15	11	0	0	0	1	0	15	11				
CA12	771	broad.mit.edu	37	15	63637696	63637696	+	Missense_Mutation	SNP	C	C	T	rs201238727		TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr15:63637696C>T	ENST00000178638.3	-	4	849	c.409G>A	c.(409-411)Gga>Aga	p.G137R	CA12_ENST00000344366.3_Missense_Mutation_p.G137R|CA12_ENST00000422263.2_Missense_Mutation_p.G77R	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	137					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	AAGTGCTGTCCGCTGACGGTG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		20213	0.0		0.001	False		,,,				2504	0.0					ENST00000178638.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(409-411)Gga>Aga		carbonic anhydrase XII	Acetazolamide(DB00819)						64.0	58.0	60.0					15																	63637696		2203	4300	6503	SO:0001583	missense	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63637696C>T	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.409G>A	15.37:g.63637696C>T	ENSP00000178638:p.Gly137Arg					CA12_ENST00000422263.2_Missense_Mutation_p.G77R|CA12_ENST00000344366.3_Missense_Mutation_p.G137R	p.G137R	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN			4	849	-			137					B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	c.409G>A	CCDS10185.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.42	3.118585	0.56505	.	.	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	T;T;T	0.61040	0.14;0.14;0.14	5.09	5.09	0.68999	Carbonic anhydrase, alpha-class, conserved site (1);Carbonic anhydrase, alpha-class, catalytic domain (4);	0.098396	0.64402	D	0.000001	T	0.80287	0.4595	M	0.89353	3.025	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.84601	0.0672	10	0.87932	D	0	.	17.0591	0.86542	0.0:1.0:0.0:0.0	.	77;137;137	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	R	137;137;77	ENSP00000178638:G137R;ENSP00000343088:G137R;ENSP00000403028:G77R	ENSP00000178638:G137R	G	-	1	0	CA12	61424749	1.000000	0.71417	0.851000	0.33527	0.002000	0.02628	5.915000	0.69973	2.357000	0.79964	0.462000	0.41574	GGA		0.642	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		8	17	0	0	0	1	0	8	17				
PSG8	440533	broad.mit.edu	37	19	43268092	43268092	+	Missense_Mutation	SNP	C	C	G			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr19:43268092C>G	ENST00000306511.4	-	2	503	c.406G>C	c.(406-408)Gga>Cga	p.G136R	PSG8_ENST00000401467.2_Missense_Mutation_p.G136R|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.G136R	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	136	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTGAAATGTCCAGTTACTCCT	0.488																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(406-408)Gga>Cga		pregnancy specific beta-1-glycoprotein 8							328.0	317.0	320.0					19																	43268092		2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43268092C>G	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.406G>C	19.37:g.43268092C>G	ENSP00000305005:p.Gly136Arg					PSG8_ENST00000306511.4_Missense_Mutation_p.G136R|PSG8_ENST00000401467.2_Missense_Mutation_p.G136R|PSG8_ENST00000406636.3_Intron	p.G136R	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			2	502	-		Prostate(69;0.00899)	136			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.406G>C	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.588855	0.28357	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.20069	2.1;3.2;2.11	1.35	1.35	0.21983	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37571	0.1008	M	0.65320	2	0.09310	N	1	B;D;B;B;B	0.89917	0.1;1.0;0.002;0.186;0.223	B;D;B;P;P	0.91635	0.302;0.999;0.026;0.453;0.589	T	0.06391	-1.0829	9	0.56958	D	0.05	.	6.1568	0.20342	0.0:1.0:0.0:0.0	.	136;136;136;136;136	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	R	136;11;136;136;136	ENSP00000385869:G136R;ENSP00000386090:G136R;ENSP00000305005:G136R	ENSP00000292109:G11R	G	-	1	0	PSG8	47959932	0.209000	0.23505	0.005000	0.12908	0.018000	0.09664	1.546000	0.36179	1.063000	0.40649	0.184000	0.17185	GGA		0.488	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			106	260	0	0	0	1	0	106	260				
CHST10	9486	broad.mit.edu	37	2	101010155	101010155	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr2:101010155C>T	ENST00000264249.3	-	7	1008	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	CHST10_ENST00000409701.1_Missense_Mutation_p.R208Q|CHST10_ENST00000542617.1_Missense_Mutation_p.R256Q	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	208					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AGGCTCAAACCGGGGATTGTG	0.408																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(622-624)cGg>cAg		carbohydrate sulfotransferase 10							105.0	107.0	106.0					2																	101010155		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101010155C>T	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.623G>A	2.37:g.101010155C>T	ENSP00000264249:p.Arg208Gln					CHST10_ENST00000542617.1_Missense_Mutation_p.R256Q|CHST10_ENST00000409701.1_Missense_Mutation_p.R208Q	p.R208Q	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1008	-			208					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.623G>A	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395673	0.96009	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.74106	-0.81;-0.81;-0.81	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.84047	0.5386	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.63192	0.912	T	0.77843	-0.2437	10	0.14656	T	0.56	-34.0748	20.6208	0.99490	0.0:1.0:0.0:0.0	.	208	O43529	CHSTA_HUMAN	Q	208;256;208	ENSP00000264249:R208Q;ENSP00000438869:R256Q;ENSP00000387309:R208Q	ENSP00000264249:R208Q	R	-	2	0	CHST10	100376587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.625000	0.83145	2.882000	0.98803	0.655000	0.94253	CGG		0.408	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		27	31	0	0	0	1	0	27	31				
HABP2	3026	broad.mit.edu	37	10	115340448	115340448	+	Missense_Mutation	SNP	C	C	G			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr10:115340448C>G	ENST00000351270.3	+	8	931	c.835C>G	c.(835-837)Cag>Gag	p.Q279E	HABP2_ENST00000542051.1_Missense_Mutation_p.Q253E|HABP2_ENST00000541666.1_Missense_Mutation_p.Q279E	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	279					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	CTGCTCAGCCCAGGGTAAAGG	0.527																																						ENST00000351270.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(835-837)Cag>Gag		hyaluronan binding protein 2							76.0	75.0	75.0					10																	115340448		2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115340448C>G		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.835C>G	10.37:g.115340448C>G	ENSP00000277903:p.Gln279Glu					HABP2_ENST00000542051.1_Missense_Mutation_p.Q253E|HABP2_ENST00000541666.1_Missense_Mutation_p.Q279E	p.Q279E	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	8	931	+		Colorectal(252;0.0233)|Breast(234;0.0672)	279					A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.835C>G	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	C	0.643	-0.812615	0.02798	.	.	ENSG00000148702	ENST00000542051;ENST00000351270;ENST00000541666	T;T;D	0.84944	0.09;0.09;-1.92	5.45	-4.02	0.04034	Kringle (1);Kringle-like fold (1);	1.139670	0.06287	N	0.698561	T	0.68229	0.2978	L	0.36672	1.1	0.09310	N	1	B	0.15930	0.015	B	0.04013	0.001	T	0.57418	-0.7815	10	0.02654	T	1	.	0.53	0.00626	0.2033:0.2737:0.1883:0.3348	.	279	Q14520	HABP2_HUMAN	E	253;279;279	ENSP00000443283:Q253E;ENSP00000277903:Q279E;ENSP00000438373:Q279E	ENSP00000277903:Q279E	Q	+	1	0	HABP2	115330438	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-0.254000	0.08781	-0.555000	0.06142	0.462000	0.41574	CAG		0.527	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		27	35	0	0	0	1	0	27	35				
ZKSCAN5	23660	broad.mit.edu	37	7	99129144	99129144	+	Missense_Mutation	SNP	G	G	A	rs4729542		TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:99129144G>A	ENST00000394170.2	+	7	2043	c.1792G>A	c.(1792-1794)Gtc>Atc	p.V598I	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.V598I|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.V598I	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	598					regulation of transcription, DNA-templated (GO:0006355)|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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCATCAGCGCGTCCACACAGG	0.517																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1792-1794)Gtc>Atc		zinc finger with KRAB and SCAN domains 5							84.0	79.0	81.0					7																	99129144		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99129144G>A	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1792G>A	7.37:g.99129144G>A	ENSP00000377725:p.Val598Ile					ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.V598I|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.V598I	p.V598I	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			7	2043	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		598					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.1792G>A	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	9.970	1.225228	0.22457	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.19105	2.17;2.17;2.17	5.23	5.23	0.72850	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000124	T	0.10252	0.0251	N	0.11341	0.13	0.29878	N	0.826241	P;P	0.48834	0.916;0.916	B;B	0.44108	0.441;0.441	T	0.08066	-1.0740	10	0.02654	T	1	.	9.9642	0.41715	0.0898:0.0:0.9102:0.0	rs4729542;rs4729542	598;598	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	I	598	ENSP00000322872:V598I;ENSP00000392104:V598I;ENSP00000377725:V598I	ENSP00000322872:V598I	V	+	1	0	ZKSCAN5	98967080	0.002000	0.14202	0.787000	0.31911	0.973000	0.67179	1.351000	0.34022	2.894000	0.99253	0.591000	0.81541	GTC		0.517	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		13	14	0	0	0	1	0	13	14				
GAA	2548	broad.mit.edu	37	17	78083827	78083827	+	Silent	SNP	C	C	T			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr17:78083827C>T	ENST00000302262.3	+	9	1629	c.1410C>T	c.(1408-1410)aaC>aaT	p.N470N	GAA_ENST00000390015.3_Silent_p.N470N	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	470					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TCATCACCAACGAGACCGGCC	0.667																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1408-1410)aaC>aaT		glucosidase, alpha; acid	Acarbose(DB00284)						31.0	37.0	35.0					17																	78083827		2200	4300	6500	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78083827C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1410C>T	17.37:g.78083827C>T						GAA_ENST00000390015.3_Silent_p.N470N	p.N470N	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		9	1629	+	all_neural(118;0.117)		470					Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.1410C>T	CCDS32760.1																																																																																				0.667	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			22	55	0	0	0	1	0	22	55				
CSTB	1476	broad.mit.edu	37	21	45194196	45194196	+	Missense_Mutation	SNP	C	C	T	rs147307021		TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr21:45194196C>T	ENST00000291568.5	-	3	359	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	62					adult locomotory behavior (GO:0008344)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		ACGAAGTCCTCGTCGCCGACG	0.547																																					Esophageal Squamous(58;831 1093 17019 29789 35147)	ENST00000291568.5																			0				lung(1)|prostate(1)	2						c.(184-186)Gag>Aag		cystatin B (stefin B)		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	180.0	159.0	166.0		184	3.4	0.0	21	dbSNP_134	166	0,8600		0,0,4300	no	missense	CSTB	NM_000100.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	62/99	45194196	1,13005	2203	4300	6503	SO:0001583	missense	1476					cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding	g.chr21:45194196C>T	L03558	CCDS13701.1	21q22.3	2014-09-17			ENSG00000160213	ENSG00000160213			2482	protein-coding gene	gene with protein product		601145		EPM1, STFB		8596935	Standard	NM_000100		Approved	CST6, PME	uc002zdr.4	P04080	OTTHUMG00000086886	ENST00000291568.5:c.184G>A	21.37:g.45194196C>T	ENSP00000291568:p.Glu62Lys						p.E62K	NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)	3	359	-			62						Missense_Mutation	SNP	ENST00000291568.5	37	c.184G>A	CCDS13701.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443702	0.43429	2.27E-4	0.0	ENSG00000160213	ENST00000291568	T	0.26223	1.75	5.2	3.38	0.38709	Proteinase inhibitor I25, cystatin (2);	0.380111	0.29424	N	0.012188	T	0.17323	0.0416	.	.	.	0.09310	N	1	B	0.21452	0.056	B	0.19391	0.025	T	0.16958	-1.0385	9	0.38643	T	0.18	-6.7331	8.2555	0.31754	0.0:0.8149:0.0:0.1851	.	62	P04080	CYTB_HUMAN	K	62	ENSP00000291568:E62K	ENSP00000291568:E62K	E	-	1	0	CSTB	44018624	0.777000	0.28628	0.001000	0.08648	0.004000	0.04260	2.595000	0.46197	0.578000	0.29487	0.561000	0.74099	GAG		0.547	CSTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195689.1	NM_000100		18	77	0	0	0	1	0	18	77				
TRHDE	29953	broad.mit.edu	37	12	73046874	73046874	+	Missense_Mutation	SNP	T	T	A			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr12:73046874T>A	ENST00000261180.4	+	17	2883	c.2787T>A	c.(2785-2787)aaT>aaA	p.N929K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	929					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TAGCTCGAAATCCACATGGTC	0.353																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2785-2787)aaT>aaA		thyrotropin-releasing hormone degrading enzyme							86.0	83.0	84.0					12																	73046874		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73046874T>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2787T>A	12.37:g.73046874T>A	ENSP00000261180:p.Asn929Lys						p.N929K	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			17	2883	+			929					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2787T>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261817	0.80358	.	.	ENSG00000072657	ENST00000261180	T	0.06849	3.25	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04029	-1.0983	10	0.54805	T	0.06	.	9.9807	0.41811	0.0:0.0755:0.0:0.9245	.	929	Q9UKU6	TRHDE_HUMAN	K	929	ENSP00000261180:N929K	ENSP00000261180:N929K	N	+	3	2	TRHDE	71333141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.765000	0.55272	2.087000	0.62958	0.533000	0.62120	AAT		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		24	50	0	0	0	1	0	24	50				
SETDB1	9869	broad.mit.edu	37	1	150933428	150933428	+	Missense_Mutation	SNP	C	C	A			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr1:150933428C>A	ENST00000271640.5	+	16	3080	c.2890C>A	c.(2890-2892)Cct>Act	p.P964T	SETDB1_ENST00000368969.4_Missense_Mutation_p.P964T	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	964	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCCTCAATCCCTGTAGGTGG	0.547																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2890-2892)Cct>Act		SET domain, bifurcated 1							118.0	119.0	119.0					1																	150933428		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150933428C>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2890C>A	1.37:g.150933428C>A	ENSP00000271640:p.Pro964Thr					SETDB1_ENST00000368969.4_Missense_Mutation_p.P964T	p.P964T	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		16	3080	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		964			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.2890C>A	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	9.656	1.142946	0.21205	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.86956	-2.19;-2.19;1.29	5.47	1.47	0.22746	SET domain (3);	0.575134	0.18757	N	0.132008	T	0.55609	0.1931	N	0.08118	0	0.20873	N	0.999832	B;B;B	0.19583	0.037;0.013;0.0	B;B;B	0.22880	0.042;0.01;0.0	T	0.54410	-0.8298	10	0.62326	D	0.03	.	7.4569	0.27272	0.0:0.6013:0.0:0.3987	.	964;964;964	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	T	964	ENSP00000271640:P964T;ENSP00000357965:P964T;ENSP00000432348:P964T	ENSP00000271640:P964T	P	+	1	0	SETDB1	149200052	0.023000	0.18921	0.517000	0.27799	0.702000	0.40608	0.390000	0.20768	0.434000	0.26340	0.462000	0.41574	CCT		0.547	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			4	114	1	0	1	1	1	4	114				
SETD2	29072	broad.mit.edu	37	3	47103836	47103836	+	Splice_Site	SNP	G	G	C			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr3:47103836G>C	ENST00000409792.3	-	14	6152	c.6110C>G	c.(6109-6111)aCa>aGa	p.T2037R	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2037					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCGTTCAGTTGCTAAGGGAAA	0.393			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.e14-1		SET domain containing 2							181.0	183.0	182.0					3																	47103836		2203	4300	6503	SO:0001630	splice_region_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47103836G>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6110-1C>G	3.37:g.47103836G>C						SETD2_ENST00000492397.1_5'UTR	p.T2037_splice	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	14	6152	-		Acute lymphoblastic leukemia(5;0.0169)	2037					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	ENST00000409792.3	37	c.6109_splice	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	5.763	0.325142	0.10900	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.87887	-2.31	4.77	0.95	0.19572	.	0.965558	0.08488	N	0.938463	T	0.67906	0.2943	N	0.03608	-0.345	0.27428	N	0.9541	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.55698	-0.8100	10	0.12103	T	0.63	.	6.5005	0.22166	0.4809:0.0:0.519:0.0	.	2037;2037	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	2037	ENSP00000386759:T2037R	ENSP00000386759:T2037R	T	-	2	0	SETD2	47078840	1.000000	0.71417	0.994000	0.49952	0.130000	0.20726	1.374000	0.34283	0.412000	0.25729	-0.693000	0.03709	ACA		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	Missense_Mutation	61	97	0	0	0	1	0	61	97				
FKBP9	11328	broad.mit.edu	37	7	33020059	33020059	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:33020059G>C	ENST00000242209.4	+	5	956	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	FKBP9_ENST00000490776.2_Missense_Mutation_p.E31Q|FKBP9_ENST00000538336.1_Missense_Mutation_p.E316Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Missense_Mutation_p.E125Q	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	263					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CATTTCCATTGAGAACAAGGT	0.468																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(787-789)Gag>Cag		FK506 binding protein 9, 63 kDa							150.0	140.0	144.0					7																	33020059		2203	4300	6503	SO:0001583	missense	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33020059G>C	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.787G>C	7.37:g.33020059G>C	ENSP00000242209:p.Glu263Gln					FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538336.1_Missense_Mutation_p.E316Q|FKBP9_ENST00000490776.2_Missense_Mutation_p.E31Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.E125Q	p.E263Q	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		5	956	+			263					B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	c.787G>C	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581244	0.46006	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000418354;ENST00000490776	T;T;T;T;T	0.55588	0.51;0.82;0.51;0.91;0.91	5.06	5.06	0.68205	.	0.113216	0.64402	D	0.000012	T	0.58850	0.2151	M	0.62088	1.915	0.47183	D	0.999348	P;P;B;P	0.43885	0.454;0.82;0.386;0.745	B;P;B;B	0.47626	0.079;0.552;0.175;0.28	T	0.54984	-0.8211	10	0.20046	T	0.44	-12.2962	18.4263	0.90610	0.0:0.0:1.0:0.0	.	31;316;263;263	B7Z1G9;B7Z6H3;O95302;B3KQQ0	.;.;FKBP9_HUMAN;.	Q	263;316;125;31;31	ENSP00000242209:E263Q;ENSP00000439250:E316Q;ENSP00000437504:E125Q;ENSP00000391034:E31Q;ENSP00000441317:E31Q	ENSP00000242209:E263Q	E	+	1	0	FKBP9	32986584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.965000	0.63708	2.362000	0.80069	0.650000	0.86243	GAG		0.468	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		58	80	0	0	0	1	0	58	80				
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C	rs530929455	byFrequency	TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:35930362T>C	ENST00000435235.1	+	10	1230	c.798T>C	c.(796-798)taT>taC	p.Y266Y	SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000494488.2_Silent_p.Y305Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000350320.6_Silent_p.Y318Y			Q16181	SEPT7_HUMAN	septin 7	319	Septin-type G.				cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323													T|||	6	0.00119808	0.0	0.0	5008	,	,		16353	0.005		0.0	False		,,,				2504	0.001					ENST00000494488.2																			3	Substitution - coding silent(3)	p.Y320Y(3)	kidney(2)|prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(913-915)taT>taC		septin 7							47.0	41.0	43.0					7																	35930362		1836	4080	5916	SO:0001819	synonymous_variant	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35930362T>C	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.798T>C	7.37:g.35930362T>C						SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000350320.6_Silent_p.Y318Y	p.Y305Y			Q16181	SEPT7_HUMAN			10	915	+			319					Q52M76|Q6NX50	Silent	SNP	ENST00000435235.1	37	c.915T>C																																																																																					0.323	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		3	18	0	0	0	1	0	3	18				
LRP2	4036	broad.mit.edu	37	2	170055361	170055361	+	Missense_Mutation	SNP	C	C	T	rs142214474		TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr2:170055361C>T	ENST00000263816.3	-	45	8798	c.8513G>A	c.(8512-8514)cGc>cAc	p.R2838H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2838	LDL-receptor class A 19. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAAATAAACGCGAGGAATACA	0.358																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8512-8514)cGc>cAc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	109.0	111.0		8513	1.2	0.0	2	dbSNP_134	111	0,8600		0,0,4300	no	missense	LRP2	NM_004525.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2838/4656	170055361	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170055361C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8513G>A	2.37:g.170055361C>T	ENSP00000263816:p.Arg2838His						p.R2838H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	45	8798	-			2838			LDL-receptor class A 19.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8513G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877481	0.51801	2.27E-4	0.0	ENSG00000081479	ENST00000263816	D	0.95622	-3.76	5.96	1.22	0.21188	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.102682	0.64402	N	0.000002	D	0.91233	0.7237	L	0.41710	1.295	0.80722	D	1	P	0.38535	0.635	B	0.35114	0.196	D	0.86287	0.1671	10	0.45353	T	0.12	.	13.2428	0.60006	0.0:0.8697:0.0:0.1303	.	2838	P98164	LRP2_HUMAN	H	2838	ENSP00000263816:R2838H	ENSP00000263816:R2838H	R	-	2	0	LRP2	169763607	0.995000	0.38212	0.013000	0.15412	0.909000	0.53808	3.317000	0.51968	-0.049000	0.13379	0.655000	0.94253	CGC		0.358	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		3	19	0	0	0	1	0	3	19				
TGDS	23483	broad.mit.edu	37	13	95235377	95235377	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr13:95235377C>T	ENST00000261296.5	-	5	547	c.427G>A	c.(427-429)Gat>Aat	p.D143N	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	143					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TATACTTCATCTGTGCTGACA	0.373																																						ENST00000261296.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(427-429)Gat>Aat		TDP-glucose 4,6-dehydratase							150.0	139.0	142.0					13																	95235377		2203	4300	6503	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95235377C>T	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.427G>A	13.37:g.95235377C>T	ENSP00000261296:p.Asp143Asn					TGDS_ENST00000498294.1_5'UTR	p.D143N	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN			5	547	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		143					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.427G>A	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127495	0.94473	.	.	ENSG00000088451	ENST00000261296	D	0.93659	-3.26	5.76	5.76	0.90799	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.107609	0.64402	D	0.000007	D	0.98128	0.9382	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98623	1.0668	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	143	O95455	TGDS_HUMAN	N	143	ENSP00000261296:D143N	ENSP00000261296:D143N	D	-	1	0	TGDS	94033378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.947000	0.70242	2.882000	0.98803	0.655000	0.94253	GAT		0.373	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		29	56	0	0	0	1	0	29	56				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	100125556							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		5	88	0	0	0	1	0	5	88				
MRVI1	10335	broad.mit.edu	37	11	10647542	10647542	+	Missense_Mutation	SNP	G	G	A	rs567720854		TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr11:10647542G>A	ENST00000436272.1	-	8	1336	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	MRVI1_ENST00000545852.1_Missense_Mutation_p.R132W|MRVI1_ENST00000558540.1_Missense_Mutation_p.R132W|MRVI1_ENST00000552103.1_Missense_Mutation_p.R356W|MRVI1_ENST00000527509.2_Missense_Mutation_p.R356W|MRVI1_ENST00000421747.1_Missense_Mutation_p.R438W|MRVI1_ENST00000531107.1_Missense_Mutation_p.R439W|MRVI1_ENST00000424001.1_Missense_Mutation_p.R132W|MRVI1_ENST00000534266.2_Missense_Mutation_p.R132W|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000547195.1_Missense_Mutation_p.R356W|MRVI1_ENST00000423302.2_Missense_Mutation_p.R447W			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	420					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCTGCATCCGCACGGGCTGC	0.602																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1066-1068)Cgg>Tgg		murine retrovirus integration site 1 homolog																																				SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10647542G>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1258C>T	11.37:g.10647542G>A	ENSP00000412229:p.Arg420Trp					MRVI1_ENST00000558540.1_Missense_Mutation_p.R132W|MRVI1_ENST00000545852.1_Missense_Mutation_p.R132W|MRVI1_ENST00000421747.1_Missense_Mutation_p.R438W|MRVI1_ENST00000552103.1_Missense_Mutation_p.R356W|MRVI1_ENST00000424001.1_Missense_Mutation_p.R132W|MRVI1_ENST00000423302.2_Missense_Mutation_p.R447W|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000534266.2_Missense_Mutation_p.R132W|MRVI1_ENST00000436272.1_Missense_Mutation_p.R420W|MRVI1_ENST00000527509.2_Missense_Mutation_p.R356W|MRVI1_ENST00000531107.1_Missense_Mutation_p.R439W	p.R356W	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	8	1566	-			420					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.1066C>T		.	.	.	.	.	.	.	.	.	.	G	19.28	3.797636	0.70567	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T	0.26518	2.88;2.88;2.3;2.3;1.73;1.73;2.71;2.88;2.3	5.71	0.913	0.19354	.	0.210436	0.40302	N	0.001136	T	0.45955	0.1368	L	0.60455	1.87	0.42538	D	0.993066	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.981;0.967	T	0.53648	-0.8409	10	0.87932	D	0	-14.9475	16.5582	0.84512	0.0:0.0:0.5457:0.4543	.	420;439;438	Q9Y6F6;E9PQY6;Q9Y6F6-4	MRVI1_HUMAN;.;.	W	438;421;420;356;356;132;132;447;439;356	ENSP00000414598:R438W;ENSP00000412229:R420W;ENSP00000448278:R356W;ENSP00000446764:R356W;ENSP00000441971:R132W;ENSP00000401205:R132W;ENSP00000412130:R447W;ENSP00000432436:R439W;ENSP00000432067:R356W	ENSP00000307885:R421W	R	-	1	2	MRVI1	10604118	0.908000	0.30866	0.999000	0.59377	0.995000	0.86356	0.556000	0.23438	0.280000	0.22209	0.563000	0.77884	CGG		0.602	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		3	30	0	0	0	1	0	3	30				
SLC25A44	9673	broad.mit.edu	37	1	156182938	156182939	+	IGR	DEL	TT	TT	-			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr1:156182938_156182939delTT	ENST00000359511.4	+	0	3482				PMF1_ENST00000368277.3_Frame_Shift_Del_p.F45fs|PMF1_ENST00000567140.1_Frame_Shift_Del_p.F45fs|PMF1_ENST00000368273.4_Frame_Shift_Del_p.F45fs|PMF1_ENST00000368279.3_Frame_Shift_Del_p.F45fs|PMF1-BGLAP_ENST00000490491.1_Frame_Shift_Del_p.F45fs|PMF1-BGLAP_ENST00000320139.5_Frame_Shift_Del_p.F45fs|PMF1_ENST00000565805.1_Frame_Shift_Del_p.F45fs|PMF1-BGLAP_ENST00000368276.4_Frame_Shift_Del_p.F45fs	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TGGTGGACACTTTTCTTCAGAA	0.599																																						ENST00000368277.3																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(130-135)acttfs		polyamine-modulated factor 1																																				SO:0001628	intergenic_variant	11243							g.chr1:156182938_156182939delTT	AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816		1.37:g.156182940_156182941delTT						PMF1_ENST00000565805.1_Frame_Shift_Del_p.TF44fs|PMF1_ENST00000567140.1_Frame_Shift_Del_p.TF44fs|PMF1-BGLAP_ENST00000490491.1_Frame_Shift_Del_p.TF44fs|PMF1_ENST00000466489.1_3'UTR|PMF1_ENST00000368279.3_Frame_Shift_Del_p.TF44fs|PMF1-BGLAP_ENST00000368276.4_Frame_Shift_Del_p.TF44fs|PMF1_ENST00000368273.4_Frame_Shift_Del_p.TF44fs|PMF1-BGLAP_ENST00000320139.5_Frame_Shift_Del_p.TF44fs	p.TF44fs	NM_007221.3	NP_009152.2					1	141_142	+	Hepatocellular(266;0.158)							O75034	Frame_Shift_Del	DEL	ENST00000359511.4	37	c.132_133delTT	CCDS1133.1																																																																																				0.599	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		24	50						24	50	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			646405							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			4	4						4	4	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	7						4	7	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76777841	76777841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SR-A6MX-06A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec6403c-ac62-411c-83b9-7ec554a54d89	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chrX:76777841delG	ENST00000373344.5	-	32	7089	c.6875delC	c.(6874-6876)ccafs	p.P2292fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2292					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GGTCCCAGTTGGTATGTTGAA	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6874-6876)cafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						86.0	81.0	83.0					X																	76777841		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76777841delG	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6875delC	X.37:g.76777841delG	ENSP00000362441:p.Pro2292fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs|ATRX_ENST00000480283.1_5'UTR	p.P2292fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			32	7089	-			2292					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6875delC	CCDS14434.1																																																																																				0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		47	25						47	25	---	---	---	---
