#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
SHROOM2	357	broad.mit.edu	37	X	9900279	9900279	+	Missense_Mutation	SNP	G	G	C	rs199645557		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:9900279G>C	ENST00000380913.3	+	6	3046	c.2956G>C	c.(2956-2958)Gca>Cca	p.A986P	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	986					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GAGTCAGAAGGCACCGAACCC	0.587																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(2956-2958)Gca>Cca		shroom family member 2							112.0	94.0	100.0					X																	9900279		2203	4300	6503	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9900279G>C	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2956G>C	X.37:g.9900279G>C	ENSP00000370299:p.Ala986Pro					SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	p.A986P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			6	3046	+		Hepatocellular(5;0.000888)	986					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.2956G>C	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	g	5.762	0.324945	0.10900	.	.	ENSG00000146950	ENST00000380913	T	0.15017	2.46	4.15	-8.3	0.01005	.	2.317560	0.01492	N	0.017102	T	0.07954	0.0199	N	0.12182	0.205	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.19647	-1.0299	10	0.31617	T	0.26	.	5.3107	0.15829	0.0835:0.1127:0.42:0.3839	.	986	Q13796	SHRM2_HUMAN	P	986	ENSP00000370299:A986P	ENSP00000370299:A986P	A	+	1	0	SHROOM2	9860279	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.060000	0.01392	-1.762000	0.01308	-1.189000	0.01698	GCA		0.587	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		8	168	0	0	0	1	0	8	168				
OSMR	9180	broad.mit.edu	37	5	38923283	38923283	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:38923283C>T	ENST00000274276.3	+	13	2199	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	599	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GATATGACTTCAGAATTTATG	0.328																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1795-1797)ttC>ttT		oncostatin M receptor							77.0	80.0	79.0					5																	38923283		2203	4299	6502	SO:0001819	synonymous_variant	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38923283C>T	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1797C>T	5.37:g.38923283C>T							p.F599F	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			13	2199	+	all_lung(31;0.000365)		599			Fibronectin type-III 3.		Q6P4E8|Q96QJ6	Silent	SNP	ENST00000274276.3	37	c.1797C>T	CCDS3928.1																																																																																				0.328	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		22	42	0	0	0	1	0	22	42				
ABLIM1	3983	broad.mit.edu	37	10	116199848	116199848	+	Splice_Site	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr10:116199848T>C	ENST00000277895.5	-	20	2157	c.2060A>G	c.(2059-2061)gAt>gGt	p.D687G	ABLIM1_ENST00000392952.3_Splice_Site_p.D364G|ABLIM1_ENST00000369266.3_Intron|ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369253.2_Splice_Site_p.D310G|ABLIM1_ENST00000369252.4_Splice_Site_p.D627G	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	687					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TACCTGGTAATCTGAAAAGGA	0.403																																						ENST00000369252.4																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.e20-1		actin binding LIM protein 1							84.0	82.0	83.0					10																	116199848		2203	4300	6503	SO:0001630	splice_region_variant	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116199848T>C	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.2060-1A>G	10.37:g.116199848T>C						ABLIM1_ENST00000369253.2_Splice_Site_p.D310_splice|ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369266.3_Intron|ABLIM1_ENST00000277895.5_Splice_Site_p.D687_splice|ABLIM1_ENST00000392952.3_Splice_Site_p.D364_splice	p.D627_splice	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	20	2181	-		Colorectal(252;0.0373)|Breast(234;0.231)	687					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Splice_Site	SNP	ENST00000277895.5	37	c.1879_splice	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.71|13.71	2.317207|2.317207	0.40996|0.40996	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369256;ENST00000277895;ENST00000369253|ENST00000392955	T;T|.	0.32023|.	1.6;1.47|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|.	.|.	.|.	.|.	T|T	0.52435|0.52435	0.1734|0.1734	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49457|0.49457	-0.8938|-0.8938	7|5	0.52906|.	T|.	0.07|.	.|.	13.7855|13.7855	0.63108|0.63108	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	G|V	687;627;364;310;611;755;439|561	ENSP00000358256:D627G;ENSP00000376679:D364G|.	ENSP00000277895:D755G|.	D|I	-|-	2|1	0|0	ABLIM1|ABLIM1	116189838|116189838	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	4.357000|4.357000	0.59436|0.59436	2.137000|2.137000	0.66172|0.66172	0.533000|0.533000	0.62120|0.62120	GAT|ATT		0.403	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		Missense_Mutation	9	13	0	0	0	1	0	9	13				
UGT1A3	54659	broad.mit.edu	37	2	234638340	234638340	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:234638340C>T	ENST00000482026.1	+	1	587	c.568C>T	c.(568-570)Cct>Tct	p.P190S	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.P190S|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	190					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	GTGTCCAAACCCTTCCTCCTA	0.453																																						ENST00000482026.1																			0				breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46						c.(568-570)Cct>Tct									192.0	188.0	189.0					2																	234638340		2203	4300	6503	SO:0001583	missense	0							g.chr2:234638340C>T	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.568C>T	2.37:g.234638340C>T	ENSP00000418532:p.Pro190Ser					UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron	p.P190S	NM_019093.2	NP_061966.1				Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	587	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.568C>T	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	c	15.50	2.852809	0.51270	.	.	ENSG00000243135	ENST00000482026	T	0.64438	-0.1	4.35	4.35	0.52113	.	.	.	.	.	D	0.85141	0.5629	H	0.95114	3.625	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90370	0.4380	9	0.72032	D	0.01	.	16.8421	0.85971	0.0:1.0:0.0:0.0	.	190;190	Q5DT01;P35503	.;UD13_HUMAN	S	190	ENSP00000418532:P190S	ENSP00000418532:P190S	P	+	1	0	UGT1A3	234303079	0.994000	0.37717	0.574000	0.28523	0.028000	0.11728	3.270000	0.51600	1.953000	0.56701	0.585000	0.79938	CCT		0.453	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		5	246	0	0	0	1	0	5	246				
FRG1B	284802	broad.mit.edu	37	20	29628296	29628296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:29628296A>T	ENST00000278882.3	+	6	678	c.298A>T	c.(298-300)Aaa>Taa	p.K100*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.K100*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.K105*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	100										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CATAGAAGCAAAAAGTAAAAC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(298-300)Aaa>Taa																																						SO:0001587	stop_gained	0							g.chr20:29628296A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.298A>T	20.37:g.29628296A>T	ENSP00000278882:p.Lys100*					FRG1B_ENST00000439954.2_Nonsense_Mutation_p.K105*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.K100*	p.K100*							6	678	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.298A>T		.	.	.	.	.	.	.	.	.	.	a	35	5.542616	0.96474	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	2.08	2.08	0.27032	.	0.204250	0.50627	D	0.000116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1326	0.14919	0.6914:0.3086:0.0:0.0	.	.	.	.	X	100;105;100	.	ENSP00000278882:K100X	K	+	1	0	FRG1B	28241957	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.124000	0.71620	1.208000	0.43306	0.347000	0.21830	AAA		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	76	0	0	0	1	0	4	76				
GALNT14	79623	broad.mit.edu	37	2	31215747	31215747	+	Missense_Mutation	SNP	G	G	A	rs143970227		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:31215747G>A	ENST00000349752.5	-	2	895	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	GALNT14_ENST00000406653.1_Missense_Mutation_p.R66W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R86W|AC009305.1_ENST00000449780.1_RNA|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000420311.2_Missense_Mutation_p.R51W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	86					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTGGAGATCCGCTCACTCTCC	0.557																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(256-258)Cgg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)		G	TRP/ARG	0,4406		0,0,2203	108.0	101.0	104.0		256	5.0	1.0	2	dbSNP_134	104	3,8597	3.0+/-9.4	0,3,4297	yes	missense	GALNT14	NM_024572.2	101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	86/553	31215747	3,13003	2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31215747G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.256C>T	2.37:g.31215747G>A	ENSP00000288988:p.Arg86Trp					GALNT14_ENST00000406653.1_Missense_Mutation_p.R66W|GALNT14_ENST00000420311.2_Missense_Mutation_p.R51W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R86W|GALNT14_ENST00000324589.5_Intron	p.R86W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			2	895	-	Acute lymphoblastic leukemia(172;0.155)		86					B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.256C>T	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869720	0.72065	0.0	3.49E-4	ENSG00000158089	ENST00000349752;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T	0.66099	0.24;0.25;0.06;0.26;-0.19	4.96	4.96	0.65561	.	.	.	.	.	T	0.76856	0.4046	M	0.75150	2.29	0.58432	D	0.999995	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.995;1.0	D;D;D;P;D	0.91635	0.99;0.991;0.999;0.853;0.998	T	0.79040	-0.1966	9	0.87932	D	0	.	11.2822	0.49201	0.0:0.0:0.69:0.31	.	51;51;86;86;66	F5H263;B7Z5C5;Q96FL9-2;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	W	86;66;86;51;86	ENSP00000288988:R86W;ENSP00000385435:R66W;ENSP00000348497:R86W;ENSP00000415514:R51W;ENSP00000406399:R86W	ENSP00000288988:R86W	R	-	1	2	GALNT14	31069251	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.773000	0.55333	2.564000	0.86499	0.561000	0.74099	CGG		0.557	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		13	131	0	0	0	1	0	13	131				
ADRA2B	151	broad.mit.edu	37	2	96781415	96781415	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:96781415C>T	ENST00000409345.3	-	1	569	c.474G>A	c.(472-474)ccG>ccA	p.P158P		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	158					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGCGCCCGCGCGGCTGGGGGC	0.637																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(472-474)ccG>ccA		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						26.0	33.0	31.0					2																	96781415		2079	4199	6278	SO:0001819	synonymous_variant	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781415C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.474G>A	2.37:g.96781415C>T							p.P158P	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	569	-			158					Q4TUH9|Q53RF2|Q9BZK0	Silent	SNP	ENST00000409345.3	37	c.474G>A	CCDS56129.1																																																																																				0.637	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			10	52	0	0	0	1	0	10	52				
MRO	83876	broad.mit.edu	37	18	48327796	48327796	+	Missense_Mutation	SNP	A	A	T	rs141296827		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:48327796A>T	ENST00000428869.2	-	7	766	c.508T>A	c.(508-510)Ttt>Att	p.F170I	MRO_ENST00000256425.2_Missense_Mutation_p.F170I|MRO_ENST00000398439.3_Missense_Mutation_p.F170I|MRO_ENST00000431965.2_Intron|MRO_ENST00000588444.1_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000436348.2_Missense_Mutation_p.F184I			Q9BYG7	MSTRO_HUMAN	maestro	170						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CTGGTGAAAAATTTTTTCCAT	0.483																																						ENST00000428869.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10						c.(508-510)Ttt>Att		maestro		A	,,ILE/PHE,ILE/PHE	1,4405		0,1,2202	155.0	153.0	153.0		,,550,508	5.7	0.9	18	dbSNP_134	153	0,8600		0,0,4300	no	intron,intron,missense,missense	MRO	NM_001127174.1,NM_001127175.1,NM_001127176.1,NM_031939.3	,,21,21	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	,,probably-damaging,probably-damaging	,,184/263,170/249	48327796	1,13005	2203	4300	6503	SO:0001583	missense	83876					nucleolus	binding	g.chr18:48327796A>T	AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.508T>A	18.37:g.48327796A>T	ENSP00000409509:p.Phe170Ile					MRO_ENST00000256425.2_Missense_Mutation_p.F170I|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000436348.2_Missense_Mutation_p.F184I|MRO_ENST00000588444.1_Intron|MRO_ENST00000398439.3_Missense_Mutation_p.F170I	p.F170I			Q9BYG7	MSTRO_HUMAN		Colorectal(21;0.082)	7	766	-		Colorectal(6;0.0596)	170					B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	ENST00000428869.2	37	c.508T>A	CCDS11947.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070054	0.76301	2.27E-4	0.0	ENSG00000134042	ENST00000436348;ENST00000398439;ENST00000256425	T;T;T	0.13089	2.62;2.65;2.65	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	T	0.34135	0.0887	M	0.87269	2.87	0.38485	D	0.94781	D;D	0.56287	0.975;0.975	P;P	0.56788	0.806;0.752	T	0.36720	-0.9736	10	0.22109	T	0.4	-35.5825	12.3363	0.55069	1.0:0.0:0.0:0.0	.	184;170	E9PAT5;Q9BYG7	.;MSTRO_HUMAN	I	184;170;170	ENSP00000397900:F184I;ENSP00000381465:F170I;ENSP00000256425:F170I	ENSP00000256425:F170I	F	-	1	0	MRO	46581794	0.997000	0.39634	0.950000	0.38849	0.468000	0.32798	4.598000	0.61069	2.165000	0.68154	0.528000	0.53228	TTT		0.483	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		80	101	0	0	0	1	0	80	101				
FERMT3	83706	broad.mit.edu	37	11	63987951	63987951	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:63987951C>T	ENST00000279227.5	+	12	1462	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	FERMT3_ENST00000345728.5_Missense_Mutation_p.S452F	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	456	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGCCTGGCCTCCAAAGGCCGC	0.682																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1366-1368)tCc>tTc		fermitin family member 3							14.0	17.0	16.0					11																	63987951		2189	4270	6459	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63987951C>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1367C>T	11.37:g.63987951C>T	ENSP00000279227:p.Ser456Phe					FERMT3_ENST00000345728.5_Missense_Mutation_p.S452F	p.S456F	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			12	1462	+			456			FERM.|PH.		Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1367C>T	CCDS8060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.437882|4.437882	0.83885|0.83885	.|.	.|.	ENSG00000149781|ENSG00000149781	ENST00000545896|ENST00000345728;ENST00000279227	T|D;D	0.57752|0.96427	0.38|-4.01;-4.01	4.31|4.31	4.31|4.31	0.51392|0.51392	.|Band 4.1 domain (1);FERM central domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.065608	.|0.64402	.|D	.|0.000007	D|D	0.97945|0.97945	0.9324|0.9324	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D;D	.|0.65815	.|0.995;0.992	.|D;D	.|0.68353	.|0.957;0.954	D|D	0.98758|0.98758	1.0723|1.0723	7|10	0.25751|0.87932	T|D	0.34|0	-32.108|-32.108	16.0698|16.0698	0.80914|0.80914	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|452;456	.|Q86UX7-2;Q86UX7	.|.;URP2_HUMAN	S|F	15|452;456	ENSP00000440209:P15S|ENSP00000339950:S452F;ENSP00000279227:S456F	ENSP00000440209:P15S|ENSP00000279227:S456F	P|S	+|+	1|2	0|0	FERMT3|FERMT3	63744527|63744527	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.653000|0.653000	0.38743|0.38743	7.293000|7.293000	0.78740|0.78740	2.395000|2.395000	0.81488|0.81488	0.561000|0.561000	0.74099|0.74099	CCA|TCC		0.682	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		8	27	0	0	0	1	0	8	27				
VSTM2L	128434	broad.mit.edu	37	20	36560093	36560093	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:36560093A>G	ENST00000373461.4	+	2	425	c.178A>G	c.(178-180)Atg>Gtg	p.M60V	VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.M60V	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	60	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GGACGTGGAGATGGCCTGCTC	0.632																																						ENST00000373461.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8						c.(178-180)Atg>Gtg		V-set and transmembrane domain containing 2 like							141.0	127.0	132.0					20																	36560093		2203	4300	6503	SO:0001583	missense	128434							g.chr20:36560093A>G	AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"""Immunoglobulin superfamily / V-set domain containing"""	16096	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 102"""	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.178A>G	20.37:g.36560093A>G	ENSP00000362560:p.Met60Val					VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.M60V	p.M60V	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN			2	425	+		Myeloproliferative disorder(115;0.00878)	60			Ig-like.		E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Missense_Mutation	SNP	ENST00000373461.4	37	c.178A>G	CCDS13299.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.525533	0.44969	.	.	ENSG00000132821	ENST00000373458;ENST00000373461;ENST00000448944	T;T;T	0.26810	1.71;1.71;1.71	4.66	3.55	0.40652	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.082372	0.85682	D	0.000000	T	0.31949	0.0813	M	0.79258	2.445	0.49915	D	0.999837	B	0.29481	0.245	B	0.32090	0.14	T	0.15235	-1.0444	10	0.87932	D	0	-22.9165	10.6334	0.45549	0.8224:0.1776:0.0:0.0	.	60	Q96N03	VTM2L_HUMAN	V	60	ENSP00000362557:M60V;ENSP00000362560:M60V;ENSP00000406537:M60V	ENSP00000362557:M60V	M	+	1	0	VSTM2L	35993507	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.859000	0.69539	0.729000	0.32403	0.397000	0.26171	ATG		0.632	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079133.1			41	210	0	0	0	1	0	41	210				
FLG	2312	broad.mit.edu	37	1	152280318	152280318	+	Silent	SNP	G	G	A	rs147071702		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:152280318G>A	ENST00000368799.1	-	3	7079	c.7044C>T	c.(7042-7044)caC>caT	p.H2348H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2348	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCTTGTCCGTGCCCAATGC	0.552									Ichthyosis				G|||	1	0.000199681	0.0	0.0014	5008	,	,		22653	0.0		0.0	False		,,,				2504	0.0					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7042-7044)caC>caT		filaggrin		G		0,4346		0,0,2173	107.0	142.0	130.0		7044	-8.6	0.0	1	dbSNP_134	130	9,8551		0,9,4271	no	coding-synonymous	FLG	NM_002016.1		0,9,6444	AA,AG,GG		0.1051,0.0,0.0697		2348/4062	152280318	9,12897	2173	4280	6453	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280318G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7044C>T	1.37:g.152280318G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H2348H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7079	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2348			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.7044C>T	CCDS30860.1																																																																																				0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		6	636	0	0	0	1	0	6	636				
ZNF263	10127	broad.mit.edu	37	16	3339765	3339765	+	Missense_Mutation	SNP	G	G	A	rs149007034		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:3339765G>A	ENST00000219069.5	+	6	2135	c.1259G>A	c.(1258-1260)cGt>cAt	p.R420H	ZNF263_ENST00000574253.1_3'UTR|ZNF263_ENST00000538765.1_Missense_Mutation_p.R68H	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	420					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGGAACCCACGTTTCCTGTCA	0.493																																						ENST00000219069.5																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(1258-1260)cGt>cAt		zinc finger protein 263		G	HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	123.0	109.0	114.0		1259	3.8	0.5	16	dbSNP_134	114	0,8600		0,0,4300	no	missense	ZNF263	NM_005741.4	29	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	benign	420/684	3339765	1,12993	2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339765G>A	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1259G>A	16.37:g.3339765G>A	ENSP00000219069:p.Arg420His					ZNF263_ENST00000538765.1_Missense_Mutation_p.R68H|ZNF263_ENST00000574253.1_3'UTR	p.R420H	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN			6	2135	+			420					B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.1259G>A	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.478937	0.00165	2.28E-4	0.0	ENSG00000006194	ENST00000538765;ENST00000219069	T;T	0.06371	3.31;3.4	6.02	3.81	0.43845	.	0.240396	0.30151	N	0.010281	T	0.01661	0.0053	N	0.00652	-1.29	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.46261	-0.9204	10	0.06625	T	0.88	.	8.3964	0.32559	0.8388:0.0:0.1612:0.0	.	420	O14978	ZN263_HUMAN	H	68;420	ENSP00000444497:R68H;ENSP00000219069:R420H	ENSP00000219069:R420H	R	+	2	0	ZNF263	3279766	0.000000	0.05858	0.537000	0.28052	0.610000	0.37248	0.685000	0.25378	0.544000	0.28883	-0.302000	0.09304	CGT		0.493	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			53	93	0	0	0	1	0	53	93				
MBD1	4152	broad.mit.edu	37	18	47800597	47800597	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:47800597G>A	ENST00000591416.1	-	11	1536	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	MBD1_ENST00000588937.1_Missense_Mutation_p.R346C|MBD1_ENST00000590208.1_Missense_Mutation_p.R369C|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.R369C|MBD1_ENST00000585672.1_Missense_Mutation_p.R319C|MBD1_ENST00000585595.1_Missense_Mutation_p.R394C|MBD1_ENST00000591535.1_Missense_Mutation_p.R346C|MBD1_ENST00000457839.2_Missense_Mutation_p.R394C|MBD1_ENST00000339998.6_Missense_Mutation_p.R369C|MBD1_ENST00000353909.3_Missense_Mutation_p.R320C|MBD1_ENST00000269471.5_Missense_Mutation_p.R346C|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000269468.5_Missense_Mutation_p.R369C|MBD1_ENST00000424334.2_Missense_Mutation_p.R420C|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000436910.1_Missense_Mutation_p.R346C|MBD1_ENST00000398493.1_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	369					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CACTTCTGGCGCTTCTGGTTG	0.662																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1105-1107)Cgc>Tgc		methyl-CpG binding domain protein 1							76.0	74.0	75.0					18																	47800597		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47800597G>A	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1105C>T	18.37:g.47800597G>A	ENSP00000467017:p.Arg369Cys					MBD1_ENST00000398488.1_Intron|MBD1_ENST00000588937.1_Missense_Mutation_p.R346C|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.R369C|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000436910.1_Missense_Mutation_p.R346C|MBD1_ENST00000585672.1_Missense_Mutation_p.R319C|MBD1_ENST00000457839.2_Missense_Mutation_p.R394C|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000424334.2_Missense_Mutation_p.R420C|MBD1_ENST00000590208.1_Missense_Mutation_p.R369C|MBD1_ENST00000591535.1_Missense_Mutation_p.R346C|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000353909.3_Missense_Mutation_p.R320C|MBD1_ENST00000339998.6_Missense_Mutation_p.R369C|MBD1_ENST00000585595.1_Missense_Mutation_p.R394C|MBD1_ENST00000269471.5_Missense_Mutation_p.R346C|MBD1_ENST00000269468.5_Missense_Mutation_p.R369C	p.R369C			Q9UIS9	MBD1_HUMAN			11	1536	-			369					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.1105C>T	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920332	0.73098	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000269468;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839	D;D;D;D;D;D;D;D	0.97480	-4.33;-4.37;-4.33;-4.32;-4.31;-4.4;-4.3;-4.37	5.71	5.71	0.89125	Zinc finger, CXXC-type (2);	0.000000	0.64402	D	0.000001	D	0.98432	0.9478	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.978;0.993;0.984;0.995;0.994;0.993;0.994	D	0.99110	1.0846	10	0.87932	D	0	-17.0908	17.7362	0.88394	0.0:0.0:1.0:0.0	.	420;346;369;369;346;320;369;394	B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9;B4DXJ5	.;.;.;.;.;.;MBD1_HUMAN;.	C	369;320;369;346;346;420;369;369;394	ENSP00000372407:R369C;ENSP00000269469:R320C;ENSP00000269468:R369C;ENSP00000409561:R346C;ENSP00000269471:R346C;ENSP00000408846:R420C;ENSP00000339546:R369C;ENSP00000405268:R394C	ENSP00000269468:R369C	R	-	1	0	MBD1	46054595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.849000	0.62882	2.873000	0.98535	0.561000	0.74099	CGC		0.662	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		25	175	0	0	0	1	0	25	175				
FLG	2312	broad.mit.edu	37	1	152285513	152285513	+	Missense_Mutation	SNP	G	G	C	rs559407887		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:152285513G>C	ENST00000368799.1	-	3	1884	c.1849C>G	c.(1849-1851)Cag>Gag	p.Q617E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	617	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGATCCCTGGTTCCTACTT	0.552									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1849-1851)Cag>Gag		filaggrin							272.0	268.0	269.0					1																	152285513		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285513G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1849C>G	1.37:g.152285513G>C	ENSP00000357789:p.Gln617Glu					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.Q617E	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1884	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		617			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1849C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.709335	0.00712	.	.	ENSG00000143631	ENST00000368799	T	0.04360	3.64	3.71	0.402	0.16344	.	.	.	.	.	T	0.01765	0.0056	M	0.72479	2.2	0.09310	N	1	B	0.24963	0.115	B	0.28139	0.086	T	0.48570	-0.9024	9	0.07482	T	0.82	.	9.1677	0.37060	0.0:0.0:0.4246:0.5754	.	617	P20930	FILA_HUMAN	E	617	ENSP00000357789:Q617E	ENSP00000357789:Q617E	Q	-	1	0	FLG	150552137	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.283000	0.08433	-0.005000	0.14395	0.650000	0.86243	CAG		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		13	492	0	0	0	1	0	13	492				
USH2A	7399	broad.mit.edu	37	1	215972309	215972309	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:215972309C>A	ENST00000307340.3	-	50	10284	c.9898G>T	c.(9898-9900)Gtg>Ttg	p.V3300L	USH2A_ENST00000366943.2_Missense_Mutation_p.V3300L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3300					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCGTTGCTCACAATCTGTCTG	0.527										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9898-9900)Gtg>Ttg		Usher syndrome 2A (autosomal recessive, mild)							175.0	148.0	157.0					1																	215972309		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215972309C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9898G>T	1.37:g.215972309C>A	ENSP00000305941:p.Val3300Leu	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.V3300L	p.V3300L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	50	10284	-			3300					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9898G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793630	0.90453	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.14022	2.55;2.54	5.81	5.81	0.92471	Fibronectin, type III (2);	0.000000	0.39544	N	0.001335	T	0.16769	0.0403	M	0.81497	2.545	0.46521	D	0.999088	P	0.49253	0.921	B	0.34489	0.184	T	0.03534	-1.1027	10	0.72032	D	0.01	.	11.3705	0.49697	0.0:0.8609:0.0:0.1391	.	3300	O75445	USH2A_HUMAN	L	3300	ENSP00000305941:V3300L;ENSP00000355910:V3300L	ENSP00000305941:V3300L	V	-	1	0	USH2A	214038932	0.958000	0.32768	1.000000	0.80357	0.980000	0.70556	2.092000	0.41700	2.736000	0.93811	0.655000	0.94253	GTG		0.527	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	115	1	0	0.000602214	1	0.000634394	5	115				
MAN2B1	4125	broad.mit.edu	37	19	12763077	12763077	+	Missense_Mutation	SNP	C	C	T	rs148661421		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:12763077C>T	ENST00000456935.2	-	16	1976	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T	MAN2B1_ENST00000221363.4_Missense_Mutation_p.A645T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	646					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTATACTGGCGTTGTACCTG	0.592																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1936-1938)Gcc>Acc		mannosidase, alpha, class 2B, member 1							131.0	102.0	112.0					19																	12763077		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12763077C>T		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1936G>A	19.37:g.12763077C>T	ENSP00000395473:p.Ala646Thr					MAN2B1_ENST00000221363.4_Missense_Mutation_p.A645T	p.A646T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			16	1976	-			646					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.1936G>A	CCDS32919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.94|16.94	3.261308|3.261308	0.59431|0.59431	.|.	.|.	ENSG00000104774|ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363|ENST00000433513	T;T|.	0.78707|.	-1.2;-1.2|.	5.6|5.6	4.53|4.53	0.55603|0.55603	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);|.	0.000000|.	0.38663|.	N|.	0.001603|.	T|T	0.59569|0.59569	0.2203|0.2203	L|L	0.43646|0.43646	1.37|1.37	0.58432|0.58432	D|D	0.99999|0.99999	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.70227|.	0.968;0.961|.	T|T	0.55042|0.55042	-0.8202|-0.8202	10|5	0.35671|.	T|.	0.21|.	-41.2352|-41.2352	13.7407|13.7407	0.62847|0.62847	0.1537:0.8463:0.0:0.0|0.1537:0.8463:0.0:0.0	.|.	645;646|.	G5E928;O00754|.	.;MA2B1_HUMAN|.	T|H	646;585;645|181	ENSP00000395473:A646T;ENSP00000221363:A645T|.	ENSP00000221363:A645T|.	A|R	-|-	1|2	0|0	MAN2B1|MAN2B1	12624077|12624077	1.000000|1.000000	0.71417|0.71417	0.925000|0.925000	0.36789|0.36789	0.005000|0.005000	0.04900|0.04900	4.381000|4.381000	0.59587|0.59587	2.616000|2.616000	0.88540|0.88540	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.592	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			7	105	0	0	0	1	0	7	105				
KIAA1045	23349	broad.mit.edu	37	9	34971620	34971620	+	Missense_Mutation	SNP	C	C	T	rs201860472	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:34971620C>T	ENST00000242315.3	+	2	407	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R109W	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	109							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCGCCCCACCCGGAAGCTGGA	0.602													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17652	0.0		0.001	False		,,,				2504	0.0					ENST00000242315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(325-327)Cgg>Tgg		KIAA1045		C	TRP/ARG	1,3859		0,1,1929	122.0	132.0	129.0		325	3.1	1.0	9		129	1,8283		0,1,4141	no	missense	KIAA1045	NM_015297.1	101	0,2,6070	TT,TC,CC		0.0121,0.0259,0.0165	probably-damaging	109/401	34971620	2,12142	1930	4142	6072	SO:0001583	missense	23349						calcium ion binding	g.chr9:34971620C>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.325C>T	9.37:g.34971620C>T	ENSP00000242315:p.Arg109Trp					KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R109W	p.R109W	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	407	+			109					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.325C>T	CCDS43796.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	c	17.62	3.434676	0.62955	2.59E-4	1.21E-4	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	6.03	3.06	0.35304	.	0.132195	0.49916	D	0.000121	T	0.74543	0.3730	L	0.56769	1.78	0.41888	D	0.990352	D	0.89917	1.0	D	0.87578	0.998	T	0.73104	-0.4088	8	.	.	.	-11.2039	15.1757	0.72910	0.5084:0.4916:0.0:0.0	.	109	Q9UPV7	K1045_HUMAN	W	109	.	.	R	+	1	2	KIAA1045	34961620	0.987000	0.35691	0.993000	0.49108	0.787000	0.44495	1.874000	0.39568	0.362000	0.24319	-0.169000	0.13324	CGG		0.602	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		5	354	0	0	0	1	0	5	354				
KCNB2	9312	broad.mit.edu	37	8	73480218	73480218	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:73480218C>T	ENST00000523207.1	+	2	837	c.249C>T	c.(247-249)aaC>aaT	p.N83N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	83					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ATAATCTGAACGAGAACGAGT	0.517																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(247-249)aaC>aaT		potassium voltage-gated channel, Shab-related subfamily, member 2							83.0	81.0	82.0					8																	73480218		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480218C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.249C>T	8.37:g.73480218C>T							p.N83N	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	837	+	Breast(64;0.137)		83					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.249C>T	CCDS6209.1																																																																																				0.517	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		33	66	0	0	0	1	0	33	66				
CES2	8824	broad.mit.edu	37	16	66974478	66974478	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:66974478G>A	ENST00000317091.4	+	5	1872	c.888G>A	c.(886-888)acG>acA	p.T296T	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Silent_p.T296T	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	232					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	CGGGTGGCACGAGTGTGTCTT	0.597																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(886-888)acG>acA		carboxylesterase 2							237.0	190.0	206.0					16																	66974478		2200	4300	6500	SO:0001819	synonymous_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66974478G>A	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.888G>A	16.37:g.66974478G>A						CES2_ENST00000417689.1_Silent_p.T296T	p.T296T	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	5	1872	+		Ovarian(137;0.0563)	232					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Silent	SNP	ENST00000317091.4	37	c.888G>A	CCDS10825.1																																																																																				0.597	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		54	78	0	0	0	1	0	54	78				
RNASE8	122665	broad.mit.edu	37	14	21526423	21526423	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:21526423C>G	ENST00000308227.2	+	1	443	c.372C>G	c.(370-372)caC>caG	p.H124Q	NDRG2_ENST00000403829.3_Intron	NM_138331.1	NP_612204.1	Q8TDE3	RNAS8_HUMAN	ribonuclease, RNase A family, 8	124					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		AAGAGAAGCACCTGAACACAC	0.537																																						ENST00000308227.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(370-372)caC>caG		ribonuclease, RNase A family, 8							164.0	138.0	146.0					14																	21526423		2203	4300	6503	SO:0001583	missense	122665					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21526423C>G	AF473854	CCDS9567.1	14q11.1	2003-03-13			ENSG00000173431	ENSG00000173431		"""Ribonucleases, RNase A"""	19277	protein-coding gene	gene with protein product		612485				11861908	Standard	NM_138331		Approved		uc010tlm.2	Q8TDE3	OTTHUMG00000029645	ENST00000308227.2:c.372C>G	14.37:g.21526423C>G	ENSP00000311398:p.His124Gln					NDRG2_ENST00000403829.3_Intron	p.H124Q	NM_138331.1	NP_612204.1	Q8TDE3	RNAS8_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)	1	443	+	all_cancers(95;0.000759)		124					B2RPP6|B2RPP7	Missense_Mutation	SNP	ENST00000308227.2	37	c.372C>G	CCDS9567.1	.	.	.	.	.	.	.	.	.	.	c	1.225	-0.625757	0.03610	.	.	ENSG00000173431	ENST00000308227	T	0.71579	-0.58	4.28	-3.71	0.04424	Ribonuclease A, domain (4);	2.157330	0.01713	N	0.027806	T	0.42314	0.1197	N	0.02960	-0.455	0.09310	N	1	B	0.06786	0.001	B	0.15870	0.014	T	0.36817	-0.9732	10	0.13108	T	0.6	-0.3284	6.5209	0.22275	0.4104:0.4364:0.0:0.1532	.	124	Q8TDE3	RNAS8_HUMAN	Q	124	ENSP00000311398:H124Q	ENSP00000311398:H124Q	H	+	3	2	RNASE8	20596263	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.211000	0.02997	-0.355000	0.08199	-1.110000	0.02074	CAC		0.537	RNASE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073925.3	NM_138331		26	166	0	0	0	1	0	26	166				
HCG17	414778	broad.mit.edu	37	6	30227450	30227450	+	lincRNA	SNP	C	C	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:30227450C>G	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		CTTGGGGGCCCTGGCCCTGAC	0.716																																						ENST00000453558.1																			0																																																			0							g.chr6:30227450C>G	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30227450C>G						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	SNP	ENST00000453558.1	37																																																																																						0.716	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		3	41	0	0	0	1	0	3	41				
INTS4	92105	broad.mit.edu	37	11	77672047	77672047	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:77672047G>A	ENST00000534064.1	-	5	643	c.609C>T	c.(607-609)taC>taT	p.Y203Y	INTS4_ENST00000529807.1_Silent_p.Y203Y	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	203					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GGTCACTGAAGTAATCCCCTA	0.428																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(607-609)taC>taT		integrator complex subunit 4							235.0	222.0	226.0					11																	77672047		2200	4292	6492	SO:0001819	synonymous_variant	92105				snRNA processing	integrator complex	protein binding	g.chr11:77672047G>A	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.609C>T	11.37:g.77672047G>A						INTS4_ENST00000529807.1_Silent_p.Y203Y	p.Y203Y	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		5	643	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		203					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	ENST00000534064.1	37	c.609C>T	CCDS31644.1																																																																																				0.428	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		64	128	0	0	0	1	0	64	128				
MUC17	140453	broad.mit.edu	37	7	100677937	100677937	+	Silent	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:100677937T>C	ENST00000306151.4	+	3	3304	c.3240T>C	c.(3238-3240)agT>agC	p.S1080S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1080	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCAAGCCAGTTCATCTTCTA	0.512																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3238-3240)agT>agC		mucin 17, cell surface associated							452.0	376.0	402.0					7																	100677937		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677937T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3240T>C	7.37:g.100677937T>C							p.S1080S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3304	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1080			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3240T>C	CCDS34711.1																																																																																				0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	1238	0	0	0	1	0	7	1238				
CHAC1	79094	broad.mit.edu	37	15	41247728	41247728	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:41247728C>T	ENST00000446533.3	+	3	860	c.551C>T	c.(550-552)gCc>gTc	p.A184V	CHAC1_ENST00000487220.1_5'UTR|CHAC1_ENST00000444189.2_Intron	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	184					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein processing (GO:0010955)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|trans-Golgi network (GO:0005802)	Notch binding (GO:0005112)			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AAGGCATTGGCCTATGTGGCC	0.597																																						ENST00000446533.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(550-552)gCc>gTc		ChaC, cation transport regulator homolog 1 (E. coli)							178.0	149.0	158.0					15																	41247728		2203	4300	6503	SO:0001583	missense	79094				apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding	g.chr15:41247728C>T	BC019625	CCDS10070.2, CCDS45233.1	15q15.1	2013-09-12	2006-09-12		ENSG00000128965	ENSG00000128965			28680	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 1"""	614587	"""ChaC, cation transport regulator-like 1 (E. coli)"""			23070364	Standard	NM_024111		Approved	MGC4504	uc001znh.2	Q9BUX1	OTTHUMG00000130208	ENST00000446533.3:c.551C>T	15.37:g.41247728C>T	ENSP00000398105:p.Ala184Val					CHAC1_ENST00000487220.1_5'UTR|CHAC1_ENST00000444189.2_Intron	p.A184V	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)	3	860	+		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	184					Q0VIA0	Missense_Mutation	SNP	ENST00000446533.3	37	c.551C>T	CCDS10070.2	.	.	.	.	.	.	.	.	.	.	C	0.786	-0.760561	0.02996	.	.	ENSG00000128965	ENST00000446533	T	0.35973	1.28	6.03	5.12	0.69794	Butirosin biosynthesis, BtrG-like (1);	0.110266	0.64402	D	0.000011	T	0.07413	0.0187	N	0.00201	-1.865	0.80722	D	1	B	0.20550	0.046	B	0.20184	0.028	T	0.27297	-1.0078	10	0.02654	T	1	-26.1268	7.226	0.26016	0.0:0.7242:0.0:0.2758	.	184	Q9BUX1	CHAC1_HUMAN	V	184	ENSP00000398105:A184V	ENSP00000398105:A184V	A	+	2	0	CHAC1	39035020	1.000000	0.71417	0.993000	0.49108	0.001000	0.01503	6.070000	0.71220	1.561000	0.49584	-0.136000	0.14681	GCC		0.597	CHAC1-001	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252526.3	NM_024111		22	246	0	0	0	1	0	22	246				
FCRLA	84824	broad.mit.edu	37	1	161681131	161681131	+	Silent	SNP	C	C	T	rs376754195	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:161681131C>T	ENST00000236938.6	+	3	659	c.417C>T	c.(415-417)ccC>ccT	p.P139P	FCRLA_ENST00000367953.3_Silent_p.P128P|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367959.2_Silent_p.P145P|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540926.1_Silent_p.P128P|FCRLA_ENST00000349527.4_Silent_p.P122P	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	122	Ig-like C2-type 1.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGGGTCCCCCCGGGCCTAACA	0.602													C|||	3	0.000599042	0.0	0.0	5008	,	,		19472	0.0		0.0	False		,,,				2504	0.0031					ENST00000540926.1																			0				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34						c.(382-384)ccC>ccT		Fc receptor-like A		C	,,,,,,	0,4406		0,0,2203	51.0	54.0	53.0		435,,,,,,417	-10.0	0.2	1		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	FCRLA	NM_001184866.1,NM_001184867.1,NM_001184870.1,NM_001184871.1,NM_001184872.1,NM_001184873.1,NM_032738.3	,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	145/383,,,,,,139/377	161681131	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161681131C>T	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.417C>T	1.37:g.161681131C>T						FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367959.2_Silent_p.P145P|FCRLA_ENST00000349527.4_Silent_p.P122P|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367953.3_Silent_p.P128P|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000236938.6_Silent_p.P139P|FCRLA_ENST00000309691.6_Intron	p.P128P			Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		4	677	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		122			Ig-like C2-type 1.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Silent	SNP	ENST00000236938.6	37	c.384C>T	CCDS30926.1																																																																																				0.602	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		31	72	0	0	0	1	0	31	72				
UGT1A3	54659	broad.mit.edu	37	2	234638622	234638622	+	Missense_Mutation	SNP	A	A	G	rs201645683	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:234638622A>G	ENST00000482026.1	+	1	869	c.850A>G	c.(850-852)Agg>Ggg	p.R284G	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R284G|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	284					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	CTGTGCCAACAGGAAGCCACT	0.438													A|||	2	0.000399361	0.0	0.0	5008	,	,		20202	0.002		0.0	False		,,,				2504	0.0					ENST00000482026.1																			0				breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46						c.(850-852)Agg>Ggg									82.0	87.0	86.0					2																	234638622		2202	4300	6502	SO:0001583	missense	0							g.chr2:234638622A>G	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.850A>G	2.37:g.234638622A>G	ENSP00000418532:p.Arg284Gly					UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron	p.R284G	NM_019093.2	NP_061966.1				Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	869	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.850A>G	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	a	5.773	0.327051	0.10900	.	.	ENSG00000243135	ENST00000482026	T	0.60171	0.21	4.0	1.33	0.21861	.	.	.	.	.	T	0.35128	0.0921	N	0.12422	0.21	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.20306	-1.0279	9	0.41790	T	0.15	.	6.4869	0.22093	0.7587:0.1543:0.087:0.0	.	284;284	Q5DT01;P35503	.;UD13_HUMAN	G	284	ENSP00000418532:R284G	ENSP00000418532:R284G	R	+	1	2	UGT1A3	234303361	0.003000	0.15002	0.975000	0.42487	0.949000	0.60115	2.046000	0.41260	0.378000	0.24764	0.373000	0.22412	AGG		0.438	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		5	160	0	0	0	1	0	5	160				
DNAH9	1770	broad.mit.edu	37	17	11593161	11593161	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:11593161G>A	ENST00000262442.4	+	20	4090	c.4022G>A	c.(4021-4023)cGg>cAg	p.R1341Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1341Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1341	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTTTGCCCGGCATATCCGA	0.562																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(4021-4023)cGg>cAg		dynein, axonemal, heavy chain 9							36.0	29.0	31.0					17																	11593161		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11593161G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4022G>A	17.37:g.11593161G>A	ENSP00000262442:p.Arg1341Gln					DNAH9_ENST00000454412.2_Missense_Mutation_p.R1341Q	p.R1341Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	20	4090	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1341			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.4022G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754550	0.69648	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.61392	0.11;0.11	5.73	4.57	0.56435	Dynein heavy chain, domain-2 (1);	0.125421	0.53938	D	0.000057	T	0.55513	0.1925	M	0.67569	2.06	0.80722	D	1	P	0.34977	0.478	B	0.36666	0.23	T	0.61544	-0.7041	10	0.72032	D	0.01	.	10.3326	0.43831	0.2004:0.0:0.7996:0.0	.	1341	Q9NYC9	DYH9_HUMAN	Q	1341	ENSP00000262442:R1341Q;ENSP00000414874:R1341Q	ENSP00000262442:R1341Q	R	+	2	0	DNAH9	11533886	0.999000	0.42202	0.890000	0.34922	0.806000	0.45545	4.022000	0.57203	2.721000	0.93114	0.655000	0.94253	CGG		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		13	19	0	0	0	1	0	13	19				
FBRS	64319	broad.mit.edu	37	16	30680745	30680745	+	Missense_Mutation	SNP	G	G	A	rs370740280		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:30680745G>A	ENST00000287468.5	+	12	1425	c.1162G>A	c.(1162-1164)Ggg>Agg	p.G388R	FBRS_ENST00000356166.6_Missense_Mutation_p.G908R|FBRS_ENST00000568722.1_Missense_Mutation_p.G300R|FBRS_ENST00000395073.2_Missense_Mutation_p.G300R	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	388	Pro-rich.									ovary(1)	1			Colorectal(24;0.103)			AACTGGACCCGGGGCCGTGGC	0.687																																						ENST00000356166.6																			0				ovary(1)	1						c.(2722-2724)Ggg>Agg		fibrosin		G	ARG/GLY	0,4388		0,0,2194	37.0	46.0	43.0		1162	4.1	0.7	16		43	1,8583		0,1,4291	no	missense	FBRS	NM_001105079.1	125	0,1,6485	AA,AG,GG		0.0116,0.0,0.0077	benign	388/461	30680745	1,12971	2194	4292	6486	SO:0001583	missense	64319							g.chr16:30680745G>A	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.1162G>A	16.37:g.30680745G>A	ENSP00000287468:p.Gly388Arg					FBRS_ENST00000287468.5_Missense_Mutation_p.G388R|FBRS_ENST00000395073.2_Missense_Mutation_p.G300R|FBRS_ENST00000568722.1_Missense_Mutation_p.G300R	p.G908R			Q9HAH7	FBRS_HUMAN	Colorectal(24;0.103)		18	3810	+			388					B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	ENST00000287468.5	37	c.2722G>A		.	.	.	.	.	.	.	.	.	.	G	10.61	1.399924	0.25291	0.0	1.16E-4	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.36878	1.23	5.09	4.13	0.48395	.	0.325533	0.25964	N	0.027177	T	0.23965	0.0580	N	0.22421	0.69	0.22342	N	0.999186	B	0.06786	0.001	B	0.06405	0.002	T	0.16837	-1.0389	10	0.54805	T	0.06	-5.3266	9.2087	0.37304	0.1668:0.0:0.8332:0.0	.	388	Q9HAH7	FBRS_HUMAN	R	908;388;300	ENSP00000348489:G908R	ENSP00000287468:G388R	G	+	1	0	FBRS	30588246	0.985000	0.35326	0.706000	0.30403	0.524000	0.34500	1.974000	0.40559	1.387000	0.46486	0.561000	0.74099	GGG		0.687	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022452		78	98	0	0	0	1	0	78	98				
RTN3	10313	broad.mit.edu	37	11	63487943	63487943	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:63487943G>A	ENST00000377819.5	+	3	2123	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.A545T|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.A638T	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	657					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CCTGATAGCAGCCTTTACAGA	0.358																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1969-1971)Gcc>Acc		reticulon 3							45.0	48.0	47.0					11																	63487943		2201	4298	6499	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487943G>A	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1969G>A	11.37:g.63487943G>A	ENSP00000367050:p.Ala657Thr					RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.A545T|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.A638T|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron	p.A657T	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	2123	+			657					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.1969G>A	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	3.262	-0.150962	0.06585	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.26518	1.76;1.75;1.73	5.77	3.85	0.44370	.	0.840905	0.10344	N	0.685945	T	0.11495	0.0280	N	0.14661	0.345	0.18873	N	0.999987	P;P;P	0.41673	0.759;0.647;0.759	B;B;B	0.34652	0.187;0.091;0.187	T	0.02813	-1.1107	10	0.07644	T	0.81	-2.2239	7.8385	0.29384	0.0851:0.0:0.7511:0.1639	.	545;657;638	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	T	657;638;545	ENSP00000367050:A657T;ENSP00000344106:A638T;ENSP00000442733:A545T	ENSP00000344106:A638T	A	+	1	0	RTN3	63244519	0.205000	0.23458	0.062000	0.19696	0.024000	0.10985	0.869000	0.27996	1.541000	0.49316	0.655000	0.94253	GCC		0.358	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		5	76	0	0	0	1	0	5	76				
GSS	2937	broad.mit.edu	37	20	33533879	33533879	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:33533879G>A	ENST00000216951.2	-	3	250	c.152C>T	c.(151-153)aCg>aTg	p.T51M	GSS_ENST00000541098.1_De_novo_Start_InFrame|GSS_ENST00000451957.2_Missense_Mutation_p.T51M	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	51					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GGGGAAGAGCGTGAATGGGGC	0.567																																						ENST00000216951.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(151-153)aCg>aTg		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						127.0	109.0	115.0					20																	33533879		2203	4300	6503	SO:0001583	missense	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33533879G>A		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.152C>T	20.37:g.33533879G>A	ENSP00000216951:p.Thr51Met					GSS_ENST00000451957.2_Missense_Mutation_p.T51M|GSS_ENST00000541098.1_De_novo_Start_InFrame	p.T51M	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		3	250	-			51					B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	c.152C>T	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092027	0.94149	.	.	ENSG00000100983	ENST00000216951;ENST00000451957	D;D	0.92397	-3.03;-3.03	6.07	6.07	0.98685	Glutathione synthase, N-terminal, eukaryotic (1);	0.000000	0.85682	D	0.000000	D	0.96759	0.8942	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.97110	1.0;0.591	D	0.96569	0.9421	10	0.66056	D	0.02	-9.7033	19.4308	0.94765	0.0:0.0:1.0:0.0	.	51;51	B6F210;P48637	.;GSHB_HUMAN	M	51	ENSP00000216951:T51M;ENSP00000407517:T51M	ENSP00000216951:T51M	T	-	2	0	GSS	32997540	1.000000	0.71417	0.989000	0.46669	0.984000	0.73092	9.352000	0.97076	2.885000	0.99019	0.655000	0.94253	ACG		0.567	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			4	169	0	0	0	1	0	4	169				
TIMP4	7079	broad.mit.edu	37	3	12195065	12195065	+	Missense_Mutation	SNP	G	G	A	rs144326666	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:12195065G>A	ENST00000287814.4	-	5	1135	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	209					central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGGTGGCCCCGGTACCAGCTG	0.532																																					Melanoma(199;1446 2144 30617 38794 51714)	ENST00000287814.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(625-627)Cgg>Tgg		TIMP metallopeptidase inhibitor 4		G	,TRP/ARG,	5,4401	9.9+/-24.2	0,5,2198	139.0	125.0	129.0		,625,	3.0	1.0	3	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense,intron	SYN2,TIMP4	NM_003178.4,NM_003256.3,NM_133625.3	,101,	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	,possibly-damaging,	,209/225,	12195065	6,13000	2203	4300	6503	SO:0001583	missense	7079						metal ion binding|metalloendopeptidase inhibitor activity	g.chr3:12195065G>A	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.625C>T	3.37:g.12195065G>A	ENSP00000287814:p.Arg209Trp					SYN2_ENST00000432424.2_RNA	p.R209W	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN			5	1135	-			209					B2R7K6	Missense_Mutation	SNP	ENST00000287814.4	37	c.625C>T	CCDS2608.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196997	0.58126	0.001135	1.16E-4	ENSG00000157150	ENST00000287814	D	0.95412	-3.7	4.78	2.95	0.34219	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.642280	0.16353	N	0.218128	D	0.91851	0.7421	L	0.39245	1.2	0.50632	D	0.99988	B	0.12630	0.006	B	0.06405	0.002	D	0.89449	0.3729	10	0.87932	D	0	.	11.0384	0.47816	0.1529:0.0:0.8471:0.0	.	209	Q99727	TIMP4_HUMAN	W	209	ENSP00000287814:R209W	ENSP00000287814:R209W	R	-	1	2	TIMP4	12170065	0.999000	0.42202	0.962000	0.40283	0.994000	0.84299	2.131000	0.42074	1.247000	0.43917	0.491000	0.48974	CGG		0.532	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		5	181	0	0	0	1	0	5	181				
KALRN	8997	broad.mit.edu	37	3	124385314	124385314	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:124385314G>A	ENST00000291478.5	+	13	1433	c.1270G>A	c.(1270-1272)Ggg>Agg	p.G424R	KALRN_ENST00000360013.3_Missense_Mutation_p.G2121R|KALRN_ENST00000459915.1_Missense_Mutation_p.G213R|KALRN_ENST00000393496.1_Missense_Mutation_p.G462R|KALRN_ENST00000428018.2_Missense_Mutation_p.G392R	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2120					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTGCTCAGGGGAAGCTGCT	0.572																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(6361-6363)Ggg>Agg		kalirin, RhoGEF kinase							58.0	56.0	57.0					3																	124385314		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124385314G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1270G>A	3.37:g.124385314G>A	ENSP00000291478:p.Gly424Arg					KALRN_ENST00000428018.2_Missense_Mutation_p.G392R|KALRN_ENST00000393496.1_Missense_Mutation_p.G462R|KALRN_ENST00000291478.4_Missense_Mutation_p.G424R|KALRN_ENST00000459915.1_Missense_Mutation_p.G213R	p.G2121R	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			46	6488	+			2120			PH 2.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.6361G>A	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123280	0.94429	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.31	5.31	0.75309	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.060936	0.64402	D	0.000003	T	0.79902	0.4526	H	0.95950	3.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85889	0.1427	10	0.72032	D	0.01	.	19.1722	0.93583	0.0:0.0:1.0:0.0	.	213;424;462;2120	E7EUZ8;C9JQ37;O60229-5;O60229	.;.;.;KALRN_HUMAN	R	2121;462;424;392;213	ENSP00000353109:G2121R;ENSP00000377134:G462R;ENSP00000291478:G424R;ENSP00000402419:G392R;ENSP00000420318:G213R	ENSP00000291478:G424R	G	+	1	0	KALRN	125868004	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.657000	0.98554	2.763000	0.94921	0.563000	0.77884	GGG		0.572	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		4	50	0	0	0	1	0	4	50				
ABCB10	23456	broad.mit.edu	37	1	229666080	229666080	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:229666080C>T	ENST00000344517.4	-	8	1553	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	504	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CACCTCTGGGCGAGCTGGATA	0.458																																						ENST00000344517.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31						c.(1510-1512)cGc>cAc		ATP-binding cassette, sub-family B (MDR/TAP), member 10							132.0	130.0	131.0					1																	229666080		2203	4300	6503	SO:0001583	missense	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229666080C>T	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1511G>A	1.37:g.229666080C>T	ENSP00000355637:p.Arg504His						p.R504H	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN			8	1553	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	504			ABC transporter.		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	c.1511G>A	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184083	0.94885	.	.	ENSG00000135776	ENST00000344517	D	0.90788	-2.73	5.53	5.53	0.82687	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.94023	0.8085	L	0.48877	1.53	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94225	0.7471	10	0.87932	D	0	-16.7775	19.8115	0.96547	0.0:1.0:0.0:0.0	.	504	Q9NRK6	ABCBA_HUMAN	H	504	ENSP00000355637:R504H	ENSP00000355637:R504H	R	-	2	0	ABCB10	227732703	1.000000	0.71417	0.998000	0.56505	0.800000	0.45204	6.780000	0.75063	2.745000	0.94114	0.563000	0.77884	CGC		0.458	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		51	174	0	0	0	1	0	51	174				
FUBP3	8939	broad.mit.edu	37	9	133470894	133470894	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:133470894C>A	ENST00000319725.9	+	2	184	c.109C>A	c.(109-111)Cct>Act	p.P37T		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	37					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TGATTCAATTCCTCACTTGAA	0.413																																						ENST00000319725.9																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21						c.(109-111)Cct>Act		far upstream element (FUSE) binding protein 3							184.0	167.0	172.0					9																	133470894		1853	4099	5952	SO:0001583	missense	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133470894C>A	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.109C>A	9.37:g.133470894C>A	ENSP00000318177:p.Pro37Thr						p.P37T	NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	2	184	+			37					A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	c.109C>A	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	C	9.953	1.220589	0.22457	.	.	ENSG00000107164	ENST00000358721;ENST00000319725	T	0.46063	0.88	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	L	0.35723	1.085	0.80722	D	1	P	0.36222	0.544	B	0.27170	0.077	T	0.12811	-1.0533	10	0.07482	T	0.82	-7.5006	18.4771	0.90797	0.0:1.0:0.0:0.0	.	37	Q96I24	FUBP3_HUMAN	T	24;37	ENSP00000318177:P37T	ENSP00000318177:P37T	P	+	1	0	FUBP3	132460715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.322000	0.65852	2.721000	0.93114	0.655000	0.94253	CCT		0.413	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			7	75	1	0	0.00198382	1	0.00207399	7	75				
B3GNT4	79369	broad.mit.edu	37	12	122691360	122691360	+	Missense_Mutation	SNP	G	G	A	rs372099054		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:122691360G>A	ENST00000324189.4	+	3	918	c.562G>A	c.(562-564)Gag>Aag	p.E188K	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000535274.1_Missense_Mutation_p.E163K|B3GNT4_ENST00000546192.1_Missense_Mutation_p.E163K	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	188					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GGACTTCACTGAGGACTTCTT	0.597																																						ENST00000535274.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(487-489)Gag>Aag		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4							40.0	43.0	42.0					12																	122691360		2203	4300	6503	SO:0001583	missense	79369				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr12:122691360G>A	AB049586	CCDS9227.1	12q24	2013-02-19						"""Beta 3-glycosyltransferases"""	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.562G>A	12.37:g.122691360G>A	ENSP00000319636:p.Glu188Lys					B3GNT4_ENST00000546192.1_Missense_Mutation_p.E163K|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Missense_Mutation_p.E188K	p.E163K			Q9C0J1	B3GN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	1	2214	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		188					Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Missense_Mutation	SNP	ENST00000324189.4	37	c.487G>A	CCDS9227.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351325	0.82132	.	.	ENSG00000176383	ENST00000324189;ENST00000546192;ENST00000535274	T;T;T	0.51817	0.69;0.69;0.69	5.2	4.3	0.51218	.	0.206543	0.31922	N	0.006851	T	0.56202	0.1969	M	0.83774	2.66	0.54753	D	0.999981	P	0.35793	0.521	B	0.38378	0.272	T	0.65022	-0.6269	10	0.87932	D	0	.	15.8496	0.78916	0.0:0.1361:0.8639:0.0	.	188	Q9C0J1	B3GN4_HUMAN	K	188;163;163	ENSP00000319636:E188K;ENSP00000438840:E163K;ENSP00000444534:E163K	ENSP00000319636:E188K	E	+	1	0	B3GNT4	121257313	1.000000	0.71417	0.899000	0.35326	0.950000	0.60333	6.412000	0.73303	1.316000	0.45131	0.655000	0.94253	GAG		0.597	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		31	58	0	0	0	1	0	31	58				
METTL3	56339	broad.mit.edu	37	14	21971990	21971990	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:21971990G>A	ENST00000298717.4	-	2	286	c.135C>T	c.(133-135)acC>acT	p.T45T	METTL3_ENST00000538267.1_Silent_p.T45T	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	45					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CACTACGGAAGGTTGGAGACA	0.473																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(133-135)acC>acT		methyltransferase like 3							112.0	108.0	109.0					14																	21971990		2203	4300	6503	SO:0001819	synonymous_variant	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21971990G>A	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.135C>T	14.37:g.21971990G>A						METTL3_ENST00000538267.1_Silent_p.T45T	p.T45T	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	2	286	-	all_cancers(95;0.000628)		45					O14736|Q86V05|Q9HB32	Silent	SNP	ENST00000298717.4	37	c.135C>T	CCDS32044.1																																																																																				0.473	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		12	101	0	0	0	1	0	12	101				
MUC17	140453	broad.mit.edu	37	7	100678887	100678887	+	Missense_Mutation	SNP	C	C	T	rs141608296		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:100678887C>T	ENST00000306151.4	+	3	4254	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1397	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAACCACTCCGTTAACAAGT	0.507													N|||	1	0.000199681	0.0008	0.0	5008	,	,		25227	0.0		0.0	False		,,,				2504	0.0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4189-4191)cCg>cTg		mucin 17, cell surface associated							264.0	270.0	268.0					7																	100678887		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678887C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4190C>T	7.37:g.100678887C>T	ENSP00000302716:p.Pro1397Leu						p.P1397L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4254	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1397			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4190C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	3.380	-0.126650	0.06795	.	.	ENSG00000169876	ENST00000306151	T	0.03242	4.0	0.73	0.73	0.18271	.	.	.	.	.	T	0.01730	0.0055	L	0.27053	0.805	0.09310	N	1	P	0.47841	0.901	B	0.26202	0.067	T	0.48163	-0.9059	9	0.19590	T	0.45	.	4.9076	0.13806	0.0:1.0:0.0:0.0	.	1397	Q685J3	MUC17_HUMAN	L	1397	ENSP00000302716:P1397L	ENSP00000302716:P1397L	P	+	2	0	MUC17	100465607	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	1.355000	0.34068	0.720000	0.32209	0.134000	0.15878	CCG		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		48	495	0	0	0	1	0	48	495				
CD93	22918	broad.mit.edu	37	20	23065099	23065099	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:23065099G>A	ENST00000246006.4	-	1	1878	c.1731C>T	c.(1729-1731)gaC>gaT	p.D577D		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	577					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCTTTTGCCCGTCAGTGCCAT	0.617																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1729-1731)gaC>gaT		CD93 molecule							145.0	137.0	140.0					20																	23065099		2203	4300	6503	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065099G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1731C>T	20.37:g.23065099G>A							p.D577D	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1878	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		577					O00274	Silent	SNP	ENST00000246006.4	37	c.1731C>T	CCDS13149.1																																																																																				0.617	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		45	104	0	0	0	1	0	45	104				
UQCR11	10975	broad.mit.edu	37	19	1605408	1605408	+	Start_Codon_SNP	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:1605408T>C	ENST00000591899.3	-	1	72	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	UQCR11_ENST00000585937.1_Start_Codon_SNP_p.M1V|UQCR11_ENST00000589880.1_Start_Codon_SNP_p.M1V|UQCR11_ENST00000585671.1_Start_Codon_SNP_p.M1V|UQCR11_ENST00000593029.1_5'UTR	NM_006830.3	NP_006821.1	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit XI	1					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	electron carrier activity (GO:0009055)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|lung(2)|ovary(1)|prostate(1)	5						CGGGTCACCATCGCGGCGGAG	0.766																																						ENST00000262946.4																			0				breast(1)|lung(2)|ovary(1)|prostate(1)	5						c.(1-3)Atg>Gtg		ubiquinol-cytochrome c reductase, complex III subunit XI							18.0	18.0	18.0					19																	1605408		2190	4281	6471	SO:0001582	initiator_codon_variant	10975				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity	g.chr19:1605408T>C	D55636	CCDS12073.1	19p13.3	2011-07-04	2010-01-26	2010-01-26	ENSG00000127540	ENSG00000127540		"""Mitochondrial respiratory chain complex / Complex III"""	30862	protein-coding gene	gene with protein product	"""complex III subunit 10"""	609711	"""ubiquinol-cytochrome c reductase, 6.4kDa subunit"""	UQCR		9161705	Standard	NM_006830		Approved	QCR10	uc002ltm.3	O14957		ENST00000591899.3:c.1A>G	19.37:g.1605408T>C	ENSP00000467262:p.Met1Val					UQCR11_ENST00000591899.3_Start_Codon_SNP_p.M1V|UQCR11_ENST00000585671.1_Start_Codon_SNP_p.M1V|UQCR11_ENST00000593029.1_5'UTR|UQCR11_ENST00000589880.1_Start_Codon_SNP_p.M1V	p.M1V	NM_006830.3	NP_006821.1	O14957	QCR10_HUMAN			1	75	-			1					B2R542|D6W5Z4|Q9UEA3|Q9UPK4	Translation_Start_Site	SNP	ENST00000591899.3	37	c.1A>G	CCDS12073.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.902107	0.33628	.	.	ENSG00000127540	ENST00000262946	.	.	.	4.76	4.76	0.60689	.	0.056069	0.64402	D	0.000003	T	0.58235	0.2108	.	.	.	0.80722	D	1	B	0.29481	0.245	B	0.35182	0.197	T	0.61486	-0.7053	8	0.59425	D	0.04	-62.4508	12.1352	0.53966	0.0:0.0:0.0:1.0	.	1	O14957	QCR10_HUMAN	V	1	.	ENSP00000262946:M1V	M	-	1	0	UQCR11	1556408	0.988000	0.35896	0.963000	0.40424	0.014000	0.08584	1.965000	0.40471	2.002000	0.58637	0.533000	0.62120	ATG		0.766	UQCR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449668.3	NM_006830	Missense_Mutation	4	12	0	0	0	1	0	4	12				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	150	0	0	0	1	0	7	150				
HOXA11	3207	broad.mit.edu	37	7	27224590	27224590	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:27224590G>A	ENST00000006015.3	-	1	245	c.174C>T	c.(172-174)cgC>cgT	p.R58R	HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|RP1-170O19.14_ENST00000523331.1_lincRNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000479766.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	58					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						AGGTCACTTCGCGCACGGGTT	0.612			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000006015.3				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						c.(172-174)cgC>cgT		homeobox A11							74.0	82.0	79.0					7																	27224590		2203	4300	6503	SO:0001819	synonymous_variant	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27224590G>A		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.174C>T	7.37:g.27224590G>A			OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	p.R58R	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN			1	245	-			58					A4D190	Silent	SNP	ENST00000006015.3	37	c.174C>T	CCDS5411.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895341	0.33442	.	.	ENSG00000005073	ENST00000517402	.	.	.	5.6	3.61	0.41365	.	.	.	.	.	T	0.56688	0.2002	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53265	-0.8463	4	.	.	.	.	7.8495	0.29446	0.0:0.1124:0.4882:0.3994	.	.	.	.	V	28	.	.	A	-	2	0	HOXA11	27191115	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.353000	0.44089	1.348000	0.45733	0.650000	0.86243	GCG		0.612	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			21	141	0	0	0	1	0	21	141				
FRG1B	284802	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:29625971C>A	ENST00000278882.3	+	5	595	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	72										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(214-216)cCa>cAa																																						SO:0001583	missense	0							g.chr20:29625971C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.215C>A	20.37:g.29625971C>A	ENSP00000278882:p.Pro72Gln					FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q	p.P72Q							5	595	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.215C>A		.	.	.	.	.	.	.	.	.	.	c	12.14	1.847531	0.32606	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49720	0.77	1.68	1.68	0.24146	.	0.112402	0.64402	D	0.000009	T	0.63271	0.2497	.	.	.	0.49483	D	0.999795	D	0.63046	0.992	D	0.79784	0.993	T	0.65948	-0.6044	9	0.66056	D	0.02	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	77	F5H5R5	.	Q	72;77;72	ENSP00000408863:P77Q	ENSP00000278882:P72Q	P	+	2	0	FRG1B	28239632	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CCA		0.328	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	97	1	0	0.00909568	1	0.00936719	4	97				
PLD1	5337	broad.mit.edu	37	3	171455769	171455769	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:171455769T>A	ENST00000351298.4	-	2	199	c.73A>T	c.(73-75)Ata>Tta	p.I25L	PLD1_ENST00000356327.5_Missense_Mutation_p.I25L|PLD1_ENST00000340989.4_Missense_Mutation_p.I25L|PLD1_ENST00000342215.6_Missense_Mutation_p.I25L	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	25					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGATTTTCTATGATATTACTC	0.458																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(73-75)Ata>Tta		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						94.0	90.0	91.0					3																	171455769		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171455769T>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.73A>T	3.37:g.171455769T>A	ENSP00000342793:p.Ile25Leu					PLD1_ENST00000340989.4_Missense_Mutation_p.I25L|PLD1_ENST00000351298.4_Missense_Mutation_p.I25L|PLD1_ENST00000342215.6_Missense_Mutation_p.I25L	p.I25L	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		2	143	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		25						Missense_Mutation	SNP	ENST00000351298.4	37	c.73A>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.785322	0.31593	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989;ENST00000418087	T;T;T;T;T	0.44881	3.46;3.45;1.49;3.31;0.91	5.51	4.37	0.52481	.	0.185523	0.46145	D	0.000303	T	0.28499	0.0705	L	0.34521	1.04	0.38418	D	0.94609	B;B	0.28378	0.105;0.209	B;B	0.20577	0.03;0.03	T	0.14420	-1.0473	10	0.25106	T	0.35	-24.1439	10.5742	0.45217	0.0:0.0758:0.0:0.9241	.	48;25	Q59EA4;Q13393	.;PLD1_HUMAN	L	25	ENSP00000348681:I25L;ENSP00000342793:I25L;ENSP00000339936:I25L;ENSP00000340326:I25L;ENSP00000400639:I25L	ENSP00000340326:I25L	I	-	1	0	PLD1	172938463	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	4.709000	0.61867	2.092000	0.63282	0.533000	0.62120	ATA		0.458	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		23	66	0	0	0	1	0	23	66				
NLRP5	126206	broad.mit.edu	37	19	56515215	56515215	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:56515215C>A	ENST00000390649.3	+	2	196	c.196C>A	c.(196-198)Caa>Aaa	p.Q66K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	66	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTACGGGCTGCAATGGTGTCT	0.418																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(196-198)Caa>Aaa		NLR family, pyrin domain containing 5							110.0	104.0	106.0					19																	56515215		1870	4112	5982	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515215C>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.196C>A	19.37:g.56515215C>A	ENSP00000375063:p.Gln66Lys						p.Q66K	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	2	196	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	66			DAPIN.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.196C>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832482	0.02713	.	.	ENSG00000171487	ENST00000390649	T	0.47869	0.83	3.15	-0.556	0.11803	Pyrin (1);DEATH-like (2);	.	.	.	.	T	0.40719	0.1128	M	0.63843	1.955	0.09310	N	1	P	0.39624	0.681	B	0.40741	0.339	T	0.27640	-1.0068	9	0.36615	T	0.2	.	3.7324	0.08498	0.4279:0.4456:0.0:0.1265	.	66	P59047	NALP5_HUMAN	K	66	ENSP00000375063:Q66K	ENSP00000375063:Q66K	Q	+	1	0	NLRP5	61207027	0.015000	0.18098	0.000000	0.03702	0.004000	0.04260	0.690000	0.25451	0.000000	0.14550	0.558000	0.71614	CAA		0.418	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		9	56	1	0	0.0692343	1	0.0702525	9	56				
THEMIS2	9473	broad.mit.edu	37	1	28208811	28208811	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:28208811C>T	ENST00000373921.3	+	4	980	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	THEMIS2_ENST00000328928.7_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	326	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAAGCTGCGGCGGCGGCCAAG	0.677																																						ENST00000373921.3																			0											c.(976-978)Cgg>Tgg		thymocyte selection associated family member 2							14.0	17.0	16.0					1																	28208811		1955	4153	6108	SO:0001583	missense	9473							g.chr1:28208811C>T	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.976C>T	1.37:g.28208811C>T	ENSP00000363031:p.Arg326Trp					THEMIS2_ENST00000328928.7_Intron|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron	p.R326W	NM_001105556.1	NP_001099026.1					4	980	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.976C>T	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926177	0.52759	.	.	ENSG00000130775	ENST00000442118;ENST00000373921	T;T	0.15718	2.4;2.4	5.06	3.1	0.35709	.	0.154190	0.56097	D	0.000026	T	0.44095	0.1277	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49254	-0.8959	10	0.87932	D	0	-25.9197	13.6142	0.62097	0.2834:0.7166:0.0:0.0	.	326	Q5TEJ8	THMS2_HUMAN	W	189;326	ENSP00000413725:R189W;ENSP00000363031:R326W	ENSP00000363031:R326W	R	+	1	2	C1orf38	28081398	0.775000	0.28604	0.956000	0.39512	0.560000	0.35617	1.061000	0.30542	0.591000	0.29711	-0.500000	0.04577	CGG		0.677	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		6	18	0	0	0	1	0	6	18				
BSG	682	broad.mit.edu	37	19	579583	579583	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:579583A>T	ENST00000333511.3	+	3	569	c.499A>T	c.(499-501)Aca>Tca	p.T167S	BSG_ENST00000346916.4_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Missense_Mutation_p.T51S|BSG_ENST00000545507.2_5'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	167	Ig-like C2-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGAGGTCACAGGGCACCG	0.632																																						ENST00000333511.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(499-501)Aca>Tca		basigin							60.0	53.0	55.0					19																	579583		2202	4299	6501	SO:0001583	missense	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:579583A>T	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.499A>T	19.37:g.579583A>T	ENSP00000333769:p.Thr167Ser					BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_5'UTR|BSG_ENST00000353555.4_Missense_Mutation_p.T51S|BSG_ENST00000574970.1_3'UTR	p.T167S	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	569	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	167			Ig-like C2-type.		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	c.499A>T	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	A	5.330	0.246140	0.10130	.	.	ENSG00000172270	ENST00000333511;ENST00000353555	T;T	0.13657	2.57;3.09	4.24	-8.47	0.00939	Immunoglobulin-like (1);	3.931470	0.00622	N	0.000459	T	0.10208	0.0250	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.14438	0.008;0.004;0.01;0.004	B;B;B;B	0.13407	0.005;0.009;0.009;0.009	T	0.16482	-1.0401	10	0.29301	T	0.29	-1.6934	10.3658	0.44024	0.132:0.2357:0.6324:0.0	.	51;167;51;167	P35613-2;B4DNE1;Q54A51;P35613	.;.;.;BASI_HUMAN	S	167;51	ENSP00000333769:T167S;ENSP00000343809:T51S	ENSP00000333769:T167S	T	+	1	0	BSG	530583	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.214000	0.09292	-1.469000	0.01890	0.454000	0.30748	ACA		0.632	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		8	85	0	0	0	1	0	8	85				
CA12	771	broad.mit.edu	37	15	63637713	63637713	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:63637713G>A	ENST00000178638.3	-	4	832	c.392C>T	c.(391-393)tCt>tTt	p.S131F	CA12_ENST00000422263.2_Missense_Mutation_p.S71F|CA12_ENST00000344366.3_Missense_Mutation_p.S131F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	131					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)	GGTGTGCTCAGAGCCGTGCGG	0.647																																						ENST00000178638.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(391-393)tCt>tTt		carbonic anhydrase XII	Acetazolamide(DB00819)						81.0	72.0	75.0					15																	63637713		2203	4300	6503	SO:0001583	missense	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63637713G>A	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.392C>T	15.37:g.63637713G>A	ENSP00000178638:p.Ser131Phe					CA12_ENST00000422263.2_Missense_Mutation_p.S71F|CA12_ENST00000344366.3_Missense_Mutation_p.S131F	p.S131F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN			4	832	-			131					B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	c.392C>T	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479626	0.63849	.	.	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	T;T;T	0.70164	-0.46;-0.46;-0.46	5.09	5.09	0.68999	Carbonic anhydrase, alpha-class, conserved site (1);Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.89795	0.6818	H	0.99169	4.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94207	0.7455	10	0.87932	D	0	.	17.0591	0.86542	0.0:0.0:1.0:0.0	.	71;131;131	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	F	131;131;71	ENSP00000178638:S131F;ENSP00000343088:S131F;ENSP00000403028:S71F	ENSP00000178638:S131F	S	-	2	0	CA12	61424766	1.000000	0.71417	0.944000	0.38274	0.016000	0.09150	9.736000	0.98828	2.357000	0.79964	0.462000	0.41574	TCT		0.647	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		19	42	0	0	0	1	0	19	42				
AJUBA	84962	broad.mit.edu	37	14	23451447	23451447	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:23451447C>T	ENST00000262713.2	-	1	404	c.29G>A	c.(28-30)cGc>cAc	p.R10H	RP11-298I3.5_ENST00000555074.1_Silent_p.S7S|RP11-298I3.4_ENST00000557615.1_RNA|AJUBA_ENST00000361265.4_Missense_Mutation_p.R10H|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	10	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CTCCAGCAGGCGACTGGCTTT	0.697																																						ENST00000262713.2																			0											c.(28-30)cGc>cAc		ajuba LIM protein							39.0	49.0	46.0					14																	23451447		2152	4242	6394	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23451447C>T	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.29G>A	14.37:g.23451447C>T	ENSP00000262713:p.Arg10His					RP11-298I3.5_ENST00000555074.1_Silent_p.S7S|AJUBA_ENST00000361265.4_Missense_Mutation_p.R10H	p.R10H	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			1	404	-			10			PreLIM.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.29G>A	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799773	0.70567	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	T;T	0.62788	-0.0;-0.0	4.84	4.84	0.62591	.	0.406803	0.23427	N	0.048283	T	0.56156	0.1966	N	0.14661	0.345	0.34049	D	0.65588	D	0.64830	0.994	P	0.51415	0.669	T	0.70809	-0.4771	10	0.87932	D	0	.	15.481	0.75528	0.0:1.0:0.0:0.0	.	10	Q96IF1	JUB_HUMAN	H	10	ENSP00000262713:R10H;ENSP00000354491:R10H	ENSP00000262713:R10H	R	-	2	0	JUB	22521287	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.635000	0.37134	2.511000	0.84671	0.561000	0.74099	CGC		0.697	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			7	83	0	0	0	1	0	7	83				
KLK15	55554	broad.mit.edu	37	19	51330971	51330971	+	Silent	SNP	G	G	A	rs371448196		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:51330971G>A	ENST00000598239.1	-	2	174	c.144C>T	c.(142-144)ggC>ggT	p.G48G	KLK15_ENST00000326856.4_Silent_p.G47G|KLK15_ENST00000416184.1_Silent_p.G48G|AC011523.2_ENST00000598079.1_RNA|KLK15_ENST00000596931.1_Silent_p.G47G|KLK15_ENST00000301421.2_Silent_p.G48G	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	48	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGAGGGAAGCGCCACAGTTAA	0.632																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(139-141)ggC>ggT		kallikrein-related peptidase 15		G	,,	0,4406		0,0,2203	86.0	64.0	72.0		144,144,144	-9.3	0.0	19		72	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	KLK15	NM_017509.2,NM_138563.1,NM_138564.1	,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,	48/257,48/162,48/172	51330971	1,12995	2203	4295	6498	SO:0001819	synonymous_variant	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330971G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.144C>T	19.37:g.51330971G>A						KLK15_ENST00000301421.2_Silent_p.G48G|KLK15_ENST00000598239.1_Silent_p.G48G|KLK15_ENST00000596931.1_Silent_p.G47G|KLK15_ENST00000416184.1_Silent_p.G48G	p.G47G	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	270	-		all_neural(266;0.057)	48			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	ENST00000598239.1	37	c.141C>T	CCDS12805.1																																																																																				0.632	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		3	34	0	0	0	1	0	3	34				
SEMA6D	80031	broad.mit.edu	37	15	48063381	48063381	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:48063381A>G	ENST00000316364.5	+	19	3060	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	SEMA6D_ENST00000536845.2_Missense_Mutation_p.D874G|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D855G|SEMA6D_ENST00000558014.1_Missense_Mutation_p.D812G|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D812G|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D818G|SEMA6D_ENST00000389428.3_Missense_Mutation_p.D799G|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D812G|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D831G	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	874					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CGTTCTGTTGATTCCAGAAAT	0.438																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(2620-2622)gAt>gGt		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							87.0	80.0	82.0					15																	48063381		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063381A>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2621A>G	15.37:g.48063381A>G	ENSP00000324857:p.Asp874Gly					SEMA6D_ENST00000358066.4_Missense_Mutation_p.D812G|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D855G|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D831G|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D874G|SEMA6D_ENST00000389428.3_Missense_Mutation_p.D799G|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D818G|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D812G|SEMA6D_ENST00000558014.1_Missense_Mutation_p.D812G	p.D874G	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	3060	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	874					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2621A>G	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276675	0.40294	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.18810	2.19;2.24;2.24;2.24;2.19;2.19;2.19;2.2	5.83	5.83	0.93111	.	1.435210	0.03752	N	0.256649	T	0.43033	0.1229	L	0.44542	1.39	0.80722	D	1	D;B;D;B	0.76494	0.993;0.037;0.999;0.029	P;B;D;B	0.81914	0.73;0.042;0.995;0.019	T	0.17930	-1.0353	10	0.10902	T	0.67	.	16.194	0.82011	1.0:0.0:0.0:0.0	.	799;818;874;812	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	G	812;874;874;855;831;818;812;799	ENSP00000442040:D812G;ENSP00000446152:D874G;ENSP00000324857:D874G;ENSP00000374084:D855G;ENSP00000374083:D831G;ENSP00000346786:D818G;ENSP00000350770:D812G;ENSP00000374079:D799G	ENSP00000324857:D874G	D	+	2	0	SEMA6D	45850673	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.962000	0.93254	2.225000	0.72522	0.460000	0.39030	GAT		0.438	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		9	122	0	0	0	1	0	9	122				
IGSF8	93185	broad.mit.edu	37	1	160062140	160062140	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:160062140G>A	ENST00000368086.1	-	5	1874	c.1658C>T	c.(1657-1659)gCc>gTc	p.A553V	IGSF8_ENST00000460351.1_5'Flank|IGSF8_ENST00000314485.7_Missense_Mutation_p.A553V			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	553	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A553V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCTGTAGTCGGCATGCTGCAC	0.647																																						ENST00000368086.1																			1	Substitution - Missense(1)	p.A553V(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33						c.(1657-1659)gCc>gTc		immunoglobulin superfamily, member 8							64.0	70.0	68.0					1																	160062140		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160062140G>A	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1658C>T	1.37:g.160062140G>A	ENSP00000357065:p.Ala553Val					IGSF8_ENST00000314485.7_Missense_Mutation_p.A553V	p.A553V			Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		5	1874	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		553			Ig-like C2-type 4.		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.1658C>T	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658156	0.47467	.	.	ENSG00000162729	ENST00000314485;ENST00000368086	T;T	0.22336	1.96;1.96	3.5	3.5	0.40072	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.197161	0.31601	U	0.007362	T	0.06096	0.0158	L	0.29908	0.895	0.32600	N	0.526062	P	0.34462	0.454	B	0.24541	0.054	T	0.16600	-1.0397	10	0.40728	T	0.16	.	13.8026	0.63212	0.0:0.0:1.0:0.0	.	553	Q969P0	IGSF8_HUMAN	V	553	ENSP00000316664:A553V;ENSP00000357065:A553V	ENSP00000316664:A553V	A	-	2	0	IGSF8	158328764	0.952000	0.32445	0.951000	0.38953	0.985000	0.73830	4.854000	0.62918	1.481000	0.48307	0.400000	0.26472	GCC		0.647	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		4	165	0	0	0	1	0	4	165				
ZNF208	7757	broad.mit.edu	37	19	22155989	22155989	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:22155989T>C	ENST00000397126.4	-	4	1995	c.1847A>G	c.(1846-1848)aAa>aGa	p.K616R	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	616					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTAAAGGTTTTGCCACATTC	0.368																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1846-1848)aAa>aGa		zinc finger protein 208							69.0	74.0	72.0					19																	22155989		2117	4243	6360	SO:0001583	missense	7757							g.chr19:22155989T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1847A>G	19.37:g.22155989T>C	ENSP00000380315:p.Lys616Arg					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.K616R	NM_007153.3	NP_009084.2					4	1995	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1847A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.411402	0.25465	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.26223	1.75	2.8	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40448	0.1117	.	.	.	0.27109	N	0.962417	D	0.67145	0.996	D	0.65010	0.931	T	0.17107	-1.0380	8	0.51188	T	0.08	.	6.417	0.21721	0.0:0.132:0.0:0.868	.	516	O43345	ZN208_HUMAN	R	616;516	ENSP00000380315:K616R	ENSP00000380315:K616R	K	-	2	0	ZNF208	21947829	0.997000	0.39634	0.173000	0.22940	0.100000	0.18952	3.103000	0.50298	0.069000	0.16605	0.254000	0.18369	AAA		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	60	0	0	0	1	0	6	60				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	42	0	0	0	1	0	21	42				
SETBP1	26040	broad.mit.edu	37	18	42531834	42531834	+	Silent	SNP	C	C	T	rs199582335		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:42531834C>T	ENST00000282030.5	+	4	2825	c.2529C>T	c.(2527-2529)tgC>tgT	p.C843C		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	843						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACACCTGTGCGAGATTGGCT	0.552									Schinzel-Giedion syndrome				C|||	1	0.000199681	0.0008	0.0	5008	,	,		18632	0.0		0.0	False		,,,				2504	0.0					ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(2527-2529)tgC>tgT		SET binding protein 1							94.0	68.0	77.0					18																	42531834		2203	4300	6503	SO:0001819	synonymous_variant	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42531834C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2529C>T	18.37:g.42531834C>T							p.C843C	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	2825	+			843					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.2529C>T	CCDS11923.2																																																																																				0.552	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		6	68	0	0	0	1	0	6	68				
NOTCH1	4851	broad.mit.edu	37	9	139404348	139404348	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:139404348C>A	ENST00000277541.6	-	18	2881	c.2806G>T	c.(2806-2808)Ggc>Tgc	p.G936C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	936	EGF-like 24. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCCGGAAGCCGGGCAGGCAG	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(2806-2808)Ggc>Tgc		notch 1							72.0	85.0	81.0					9																	139404348		2021	4179	6200	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139404348C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2806G>T	9.37:g.139404348C>A	ENSP00000277541:p.Gly936Cys	HNSCC(8;0.001)					p.G936C	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	18	2881	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	936			EGF-like 24.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2806G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121482	0.94385	.	.	ENSG00000148400	ENST00000277541	T	0.73897	-0.79	4.88	4.88	0.63580	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92737	0.7691	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96094	0.9064	10	0.72032	D	0.01	.	16.5962	0.84797	0.0:1.0:0.0:0.0	.	936	P46531	NOTC1_HUMAN	C	936	ENSP00000277541:G936C	ENSP00000277541:G936C	G	-	1	0	NOTCH1	138524169	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.649000	0.83500	2.235000	0.73313	0.655000	0.94253	GGC		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		70	93	1	0	5.96624e-29	1	6.63985e-29	70	93				
FUBP1	8880	broad.mit.edu	37	1	78432436	78432436	+	Splice_Site	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:78432436C>T	ENST00000370768.2	-	7	497		c.e7-1		FUBP1_ENST00000370767.1_Splice_Site|FUBP1_ENST00000436586.2_Splice_Site	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCACCACTGTCTACAATTTAA	0.318			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.e7-1		far upstream element (FUSE) binding protein 1							54.0	57.0	56.0					1																	78432436		2203	4300	6503	SO:0001630	splice_region_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78432436C>T	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.416-1G>A	1.37:g.78432436C>T						FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site				Q96AE4	FUBP1_HUMAN			7	503	-								Q12828	Splice_Site	SNP	ENST00000370768.2	37		CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846307	0.91277	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1284	0.97992	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FUBP1	78205024	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.566000	0.67372	2.829000	0.97493	0.650000	0.86243	.		0.318	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	Intron	9	14	0	0	0	1	0	9	14				
CSH2	1443	broad.mit.edu	37	17	61949673	61949673	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:61949673T>A	ENST00000392886.2	-	5	618	c.467A>T	c.(466-468)gAc>gTc	p.D156V	CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.D61V|CSH2_ENST00000560142.1_Missense_Mutation_p.D99V	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	156						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						GCGGCTGCCGTCTTCCAGCCT	0.557																																						ENST00000392886.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(466-468)gAc>gTc		chorionic somatomammotropin hormone 2							55.0	59.0	58.0					17																	61949673		2202	4296	6498	SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949673T>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.467A>T	17.37:g.61949673T>A	ENSP00000376623:p.Asp156Val					CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.D99V|CSH2_ENST00000345366.7_Missense_Mutation_p.D61V	p.D156V	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN			5	618	-			156					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	c.467A>T	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	N	13.26	2.184434	0.38609	.	.	ENSG00000213218	ENST00000345366;ENST00000392886	D;D	0.91351	-2.83;-2.25	3.97	3.97	0.46021	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2574.410000	0.00604	N	0.000396	D	0.96984	0.9015	M	0.93763	3.455	0.80722	D	1	P;P;D	0.76494	0.934;0.934;0.999	P;P;D	0.72338	0.628;0.628;0.977	D	0.88022	0.2769	10	0.87932	D	0	.	11.8008	0.52126	0.0:0.0:0.0:1.0	.	156;156;61	P01243;A8K6C2;B1A4H9	CSH_HUMAN;.;.	V	61;156	ENSP00000308396:D61V;ENSP00000376623:D156V	ENSP00000308396:D61V	D	-	2	0	CSH2	59303405	1.000000	0.71417	0.985000	0.45067	0.033000	0.12548	5.191000	0.65110	1.652000	0.50683	0.379000	0.24179	GAC		0.557	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		17	146	0	0	0	1	0	17	146				
USP9X	8239	broad.mit.edu	37	X	41075260	41075260	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:41075260G>A	ENST00000324545.8	+	35	6073	c.5440G>A	c.(5440-5442)Gat>Aat	p.D1814N	USP9X_ENST00000378308.2_Missense_Mutation_p.D1814N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1814	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAAGTTCAATGATTATTTTGA	0.408																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5440-5442)Gat>Aat		ubiquitin specific peptidase 9, X-linked							106.0	100.0	102.0					X																	41075260		2094	4247	6341	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075260G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5440G>A	X.37:g.41075260G>A	ENSP00000316357:p.Asp1814Asn					USP9X_ENST00000378308.2_Missense_Mutation_p.D1814N	p.D1814N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			35	6073	+			1814					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5440G>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914087	0.92178	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.31769	1.48;1.48	5.89	5.89	0.94794	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.91635	0.999;0.984	T	0.60622	-0.7227	10	0.62326	D	0.03	.	19.178	0.93611	0.0:0.0:1.0:0.0	.	1814;1814	Q93008-1;Q93008	.;USP9X_HUMAN	N	1814	ENSP00000367558:D1814N;ENSP00000316357:D1814N	ENSP00000316357:D1814N	D	+	1	0	USP9X	40960204	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.480000	0.83734	0.600000	0.82982	GAT		0.408	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		16	91	0	0	0	1	0	16	91				
MORC4	79710	broad.mit.edu	37	X	106224616	106224616	+	Missense_Mutation	SNP	C	C	A	rs371544849		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:106224616C>A	ENST00000355610.4	-	6	1040	c.766G>T	c.(766-768)Ggt>Tgt	p.G256C	MORC4_ENST00000255495.7_Missense_Mutation_p.G256C|MORC4_ENST00000535534.1_Missense_Mutation_p.G4C	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	256						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GAGGTAACACCGCCAGTCATT	0.353																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(766-768)Ggt>Tgt		MORC family CW-type zinc finger 4							134.0	127.0	130.0					X																	106224616		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106224616C>A	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.766G>T	X.37:g.106224616C>A	ENSP00000347821:p.Gly256Cys					MORC4_ENST00000535534.1_Missense_Mutation_p.G4C|MORC4_ENST00000255495.7_Missense_Mutation_p.G256C	p.G256C	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN			6	1040	-			256					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.766G>T	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	C	9.945	1.218475	0.22373	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.36520	2.62;1.25;2.61	4.81	3.94	0.45596	ATPase-like, ATP-binding domain (1);	0.865215	0.10486	N	0.669014	T	0.51686	0.1689	M	0.71871	2.18	0.18873	N	0.999981	D;D;D	0.71674	0.998;0.998;0.983	P;P;P	0.61658	0.892;0.87;0.641	T	0.33059	-0.9883	10	0.37606	T	0.19	0.0044	6.3543	0.21393	0.0:0.7102:0.1836:0.1062	.	4;256;256	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	C	256;4;256	ENSP00000347821:G256C;ENSP00000440359:G4C;ENSP00000255495:G256C	ENSP00000255495:G256C	G	-	1	0	MORC4	106111272	0.004000	0.15560	0.130000	0.21974	0.062000	0.15995	0.841000	0.27613	1.087000	0.41251	0.594000	0.82650	GGT		0.353	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		12	117	1	0	1.08611e-07	1	1.18018e-07	12	117				
SLC5A7	60482	broad.mit.edu	37	2	108604713	108604713	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:108604713C>T	ENST00000264047.2	+	2	378	c.102C>T	c.(100-102)agC>agT	p.S34S	SLC5A7_ENST00000409059.1_Silent_p.S34S|SLC5A7_ENST00000540517.1_Intron	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	34					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ACAGTGGCAGCGCAGAAGAGC	0.502																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(100-102)agC>agT		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						140.0	125.0	130.0					2																	108604713		2203	4300	6503	SO:0001819	synonymous_variant	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108604713C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.102C>T	2.37:g.108604713C>T						SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Silent_p.S34S	p.S34S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			2	378	+			34					Q53TF2	Silent	SNP	ENST00000264047.2	37	c.102C>T	CCDS2074.1																																																																																				0.502	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			30	75	0	0	0	1	0	30	75				
NAV3	89795	broad.mit.edu	37	12	78513090	78513090	+	Silent	SNP	T	T	G	rs183631319	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:78513090T>G	ENST00000397909.2	+	15	3287	c.3114T>G	c.(3112-3114)ccT>ccG	p.P1038P	NAV3_ENST00000536525.2_Silent_p.P1038P|NAV3_ENST00000266692.7_Silent_p.P1038P|NAV3_ENST00000228327.6_Silent_p.P1038P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1038	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAGATCTCCTTCAGATGCAG	0.438										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(3112-3114)ccT>ccG		neuron navigator 3							108.0	104.0	105.0					12																	78513090		1858	4097	5955	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513090T>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3114T>G	12.37:g.78513090T>G		HNSCC(70;0.22)				NAV3_ENST00000266692.7_Silent_p.P1038P|NAV3_ENST00000228327.6_Silent_p.P1038P|NAV3_ENST00000536525.2_Silent_p.P1038P	p.P1038P			Q8IVL0	NAV3_HUMAN			15	3287	+			1038			Ser-rich.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.3114T>G		.	.	.	.	.	.	.	.	.	.	T	9.820	1.185550	0.21870	.	.	ENSG00000067798	ENST00000552895	.	.	.	6.0	-0.769	0.11009	.	.	.	.	.	T	0.49201	0.1543	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33240	-0.9876	4	.	.	.	-17.8521	4.3125	0.10977	0.4223:0.2374:0.0:0.3404	.	.	.	.	V	110	.	.	F	+	1	0	NAV3	77037221	0.127000	0.22367	0.991000	0.47740	0.998000	0.95712	-0.576000	0.05854	-0.364000	0.08088	0.533000	0.62120	TTC		0.438	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		4	164	0	0	0	1	0	4	164				
KSR1	8844	broad.mit.edu	37	17	25932758	25932758	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:25932758A>G	ENST00000319524.6	+	15	1979	c.1979A>G	c.(1978-1980)aAc>aGc	p.N660S	KSR1_ENST00000398988.3_Missense_Mutation_p.N523S|KSR1_ENST00000509603.2_Missense_Mutation_p.N638S|KSR1_ENST00000268763.6_Missense_Mutation_p.N523S			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	660	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GAGGTGATGAACTACCGGCAG	0.617																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1567-1569)aAc>aGc		kinase suppressor of ras 1							21.0	23.0	22.0					17																	25932758		2049	4183	6232	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25932758A>G	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1979A>G	17.37:g.25932758A>G	ENSP00000323178:p.Asn660Ser					KSR1_ENST00000268763.6_Missense_Mutation_p.N523S|KSR1_ENST00000509603.2_Missense_Mutation_p.N638S|KSR1_ENST00000319524.6_Missense_Mutation_p.N660S	p.N523S	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	16	2013	+	Lung NSC(42;0.00836)		658					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.1568A>G		.	.	.	.	.	.	.	.	.	.	A	16.22	3.061089	0.55432	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	D;D;D	0.82344	-1.6;-1.6;-1.6	5.67	5.67	0.87782	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83797	0.5332	N	0.12961	0.28	0.54753	D	0.999981	D;B	0.76494	0.999;0.054	D;B	0.87578	0.998;0.245	D	0.85824	0.1387	10	0.49607	T	0.09	.	15.0899	0.72185	1.0:0.0:0.0:0.0	.	658;638	Q8IVT5;F5H0K8	KSR1_HUMAN;.	S	660;638;523;523	ENSP00000323178:N660S;ENSP00000438795:N638S;ENSP00000268763:N523S	ENSP00000268763:N523S	N	+	2	0	KSR1	22956885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.446000	0.80609	2.165000	0.68154	0.533000	0.62120	AAC		0.617	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		4	39	0	0	0	1	0	4	39				
REPS2	9185	broad.mit.edu	37	X	17065569	17065569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:17065569C>T	ENST00000357277.3	+	6	1042	c.871C>T	c.(871-873)Cga>Tga	p.R291*	REPS2_ENST00000303843.7_Nonsense_Mutation_p.R290*|REPS2_ENST00000380064.4_Nonsense_Mutation_p.R151*|SNORA16_ENST00000364597.1_RNA	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	291	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CAATCAGTTCCGATCCCTTCA	0.488																																						ENST00000357277.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17						c.(871-873)Cga>Tga		RALBP1 associated Eps domain containing 2							219.0	180.0	193.0					X																	17065569		2203	4300	6503	SO:0001587	stop_gained	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17065569C>T	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.871C>T	X.37:g.17065569C>T	ENSP00000349824:p.Arg291*					REPS2_ENST00000303843.7_Nonsense_Mutation_p.R290*|REPS2_ENST00000380064.4_Nonsense_Mutation_p.R151*	p.R291*	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN			6	1042	+	Hepatocellular(33;0.183)		291			EH 2.		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Nonsense_Mutation	SNP	ENST00000357277.3	37	c.871C>T	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	C	38	6.693858	0.97768	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	.	.	.	5.56	1.05	0.20165	.	0.127108	0.34314	N	0.004064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-11.3897	13.869	0.63605	0.749:0.251:0.0:0.0	.	.	.	.	X	291;291;290;151	.	ENSP00000306033:R290X	R	+	1	2	REPS2	16975490	1.000000	0.71417	0.787000	0.31911	0.913000	0.54294	2.382000	0.44345	0.206000	0.20587	0.600000	0.82982	CGA		0.488	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726		72	137	0	0	0	1	0	72	137				
PROKR1	10887	broad.mit.edu	37	2	68873234	68873234	+	Missense_Mutation	SNP	G	G	A	rs371409546		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:68873234G>A	ENST00000303786.3	+	2	701	c.281G>A	c.(280-282)cGc>cAc	p.R94H	PROKR1_ENST00000394342.2_Missense_Mutation_p.R94H			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	94					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AAGAAACTGCGCAACCTCACC	0.557																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(280-282)cGc>cAc		prokineticin receptor 1							195.0	162.0	173.0					2																	68873234		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68873234G>A	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.281G>A	2.37:g.68873234G>A	ENSP00000303775:p.Arg94His					PROKR1_ENST00000394342.2_Missense_Mutation_p.R94H	p.R94H			Q8TCW9	PKR1_HUMAN			2	701	+			94					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.281G>A	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621176	0.87460	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.38560	1.13;1.13	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	L	0.55990	1.75	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.54529	-0.8280	10	0.40728	T	0.16	.	16.6708	0.85266	0.0:0.0:1.0:0.0	.	94	Q8TCW9	PKR1_HUMAN	H	94	ENSP00000303775:R94H;ENSP00000377874:R94H	ENSP00000303775:R94H	R	+	2	0	PROKR1	68726738	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	7.690000	0.84178	2.890000	0.99128	0.650000	0.86243	CGC		0.557	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			18	212	0	0	0	1	0	18	212				
OR7E91P	79315	broad.mit.edu	37	2	71256288	71256288	+	RNA	SNP	C	C	T	rs190809506		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:71256288C>T	ENST00000434990.1	-	0	61																											ACCTCGGCCACGGTTCCCAAG	0.547													-|||	1	0.000199681	0.0	0.0	5008	,	,		23394	0.0		0.001	False		,,,				2504	0.0					ENST00000434990.1																			0																																																			0							g.chr2:71256288C>T																													2.37:g.71256288C>T														0	61	-									RNA	SNP	ENST00000434990.1	37																																																																																						0.547	AC007040.8-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000332235.4			5	19	0	0	0	1	0	5	19				
PNMA3	29944	broad.mit.edu	37	X	152226308	152226308	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:152226308G>T	ENST00000370264.4	+	1	922	c.896G>T	c.(895-897)aGt>aTt	p.S299I	PNMA3_ENST00000447306.1_Missense_Mutation_p.S299I|PNMA3_ENST00000370265.4_Missense_Mutation_p.S299I			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	299					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cgagtcttaagtggggccacc	0.502																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(895-897)aGt>aTt		paraneoplastic Ma antigen 3							79.0	72.0	74.0					X																	152226308		2203	4300	6503	SO:0001583	missense	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226308G>T	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.896G>T	X.37:g.152226308G>T	ENSP00000359286:p.Ser299Ile					PNMA3_ENST00000370265.4_Missense_Mutation_p.S299I|PNMA3_ENST00000370264.4_Missense_Mutation_p.S299I	p.S299I	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	1232	+	Acute lymphoblastic leukemia(192;6.56e-05)		299					D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	c.896G>T	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	g	10.78	1.448251	0.26074	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.11821	2.74;2.74;2.74	1.98	-3.21	0.05140	.	.	.	.	.	T	0.12902	0.0313	L	0.39898	1.24	0.09310	N	1	P	0.42692	0.787	P	0.46585	0.521	T	0.13899	-1.0492	9	0.39692	T	0.17	.	6.5041	0.22186	0.0:0.5637:0.2457:0.1906	.	299	Q9UL41	PNMA3_HUMAN	I	299	ENSP00000359288:S299I;ENSP00000407642:S299I;ENSP00000359286:S299I	ENSP00000359286:S299I	S	+	2	0	PNMA3	151976964	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.534000	0.02212	-1.095000	0.03050	-0.554000	0.04202	AGT		0.502	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		12	77	1	0	2.27111e-07	1	2.42956e-07	12	77				
TRIM71	131405	broad.mit.edu	37	3	32932670	32932670	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:32932670C>T	ENST00000383763.5	+	4	2037	c.1974C>T	c.(1972-1974)ggC>ggT	p.G658G		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	658					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACCAGCCGGCGTGGCCTGTG	0.622																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1972-1974)ggC>ggT		tripartite motif containing 71, E3 ubiquitin protein ligase							37.0	41.0	40.0					3																	32932670		2085	4206	6291	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932670C>T		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1974C>T	3.37:g.32932670C>T							p.G658G	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	2037	+			658						Silent	SNP	ENST00000383763.5	37	c.1974C>T	CCDS43060.1																																																																																				0.622	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		26	62	0	0	0	1	0	26	62				
NLRP1	22861	broad.mit.edu	37	17	5437298	5437298	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:5437298C>T	ENST00000572272.1	-	9	2970	c.2971G>A	c.(2971-2973)Gtg>Atg	p.V991M	NLRP1_ENST00000345221.3_Missense_Mutation_p.V991M|NLRP1_ENST00000262467.5_Missense_Mutation_p.V991M|NLRP1_ENST00000577119.1_Missense_Mutation_p.V961M|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.V961M|NLRP1_ENST00000269280.4_Missense_Mutation_p.V991M			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	991					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGGGTCATCACACTTGGTTTC	0.498																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2971-2973)Gtg>Atg		NLR family, pyrin domain containing 1							241.0	214.0	223.0					17																	5437298		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5437298C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2971G>A	17.37:g.5437298C>T	ENSP00000460475:p.Val991Met					NLRP1_ENST00000354411.3_Missense_Mutation_p.V961M|NLRP1_ENST00000572272.1_Missense_Mutation_p.V991M|NLRP1_ENST00000577119.1_Missense_Mutation_p.V961M|NLRP1_ENST00000262467.5_Missense_Mutation_p.V991M|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.V991M	p.V991M	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			9	3525	-		Colorectal(1115;3.48e-05)	991					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.2971G>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	c	5.032	0.191660	0.09547	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.71341	-0.56;-0.56;-0.54;-0.56;-0.54	3.35	-1.24	0.09435	.	1.145690	0.06860	N	0.798974	T	0.54255	0.1847	L	0.31926	0.97	0.09310	N	1	B;B;B;B;B;B	0.20459	0.045;0.045;0.018;0.011;0.045;0.015	B;B;B;B;B;B	0.24269	0.052;0.032;0.032;0.014;0.032;0.014	T	0.34079	-0.9843	10	0.23891	T	0.37	.	3.5623	0.07887	0.0:0.4495:0.1947:0.3559	.	257;961;961;991;991;991	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	M	991;991;991;961;991;257	ENSP00000442029:V991M;ENSP00000262467:V991M;ENSP00000269280:V991M;ENSP00000346390:V961M;ENSP00000324366:V991M	ENSP00000262467:V991M	V	-	1	0	NLRP1	5378022	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.631000	0.05496	-0.162000	0.10964	0.639000	0.83563	GTG		0.498	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		14	303	0	0	0	1	0	14	303				
NHS	4810	broad.mit.edu	37	X	17394316	17394316	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:17394316G>A	ENST00000380060.3	+	1	774	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	146	WAVE homology domain (WHD).				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GGCCCGGCACGCTTGCAGCCT	0.726																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(436-438)Gct>Act		Nance-Horan syndrome (congenital cataracts and dental anomalies)							6.0	6.0	6.0					X																	17394316		2018	3869	5887	SO:0001583	missense	4810					nucleus		g.chrX:17394316G>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.436G>A	X.37:g.17394316G>A	ENSP00000369400:p.Ala146Thr						p.A146T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			1	774	+	Hepatocellular(33;0.183)		146					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.436G>A	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.915821	0.92178	.	.	ENSG00000188158	ENST00000380060	T	0.65178	-0.14	3.84	3.84	0.44239	.	0.106553	0.34362	U	0.004038	T	0.62368	0.2422	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.54431	0.752;0.673	T	0.68815	-0.5309	10	0.87932	D	0	-5.5375	14.8859	0.70570	0.0:0.0:1.0:0.0	.	146;146	B7ZVX8;Q6T4R5	.;NHS_HUMAN	T	146	ENSP00000369400:A146T	ENSP00000369400:A146T	A	+	1	0	NHS	17304237	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.278000	0.89899	1.762000	0.52044	0.279000	0.19357	GCT		0.726	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		10	13	0	0	0	1	0	10	13				
SP3	6670	broad.mit.edu	37	2	174777827	174777827	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:174777827T>C	ENST00000310015.6	-	6	2530	c.2000A>G	c.(1999-2001)gAa>gGa	p.E667G	SP3_ENST00000455789.2_Missense_Mutation_p.E614G|SP3_ENST00000418194.2_Missense_Mutation_p.E599G	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	667					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CCTCTGTAATTCATCACTTCG	0.378																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(1999-2001)gAa>gGa		Sp3 transcription factor							104.0	96.0	99.0					2																	174777827		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174777827T>C	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2000A>G	2.37:g.174777827T>C	ENSP00000310301:p.Glu667Gly					SP3_ENST00000418194.2_Missense_Mutation_p.E599G|SP3_ENST00000455789.2_Missense_Mutation_p.E614G	p.E667G	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		6	2530	-			667					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.2000A>G	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.8|22.8	4.332152|4.332152	0.81801|0.81801	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194|ENST00000416195	T;T;T|.	0.52057|.	0.68;0.68;0.68|.	5.71|5.71	5.71|5.71	0.89125|0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48892|0.48892	0.1525|0.1525	N|N	0.16016|0.16016	0.355|0.355	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.46373|0.46373	-0.9196|-0.9196	10|5	0.87932|.	D|.	0|.	.|.	15.979|15.979	0.80091|0.80091	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	664;667;614|.	B7ZLN9;Q02447;Q02447-6|.	.;SP3_HUMAN;.|.	G|D	667;614;599|624	ENSP00000310301:E667G;ENSP00000388903:E614G;ENSP00000406140:E599G|.	ENSP00000310301:E667G|.	E|N	-|-	2|1	0|0	SP3|SP3	174486073|174486073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.182000|2.182000	0.69389|0.69389	0.460000|0.460000	0.39030|0.39030	GAA|AAT		0.378	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		11	44	0	0	0	1	0	11	44				
HCG17	414778	broad.mit.edu	37	6	30227449	30227449	+	lincRNA	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:30227449C>A	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		TCTTGGGGGCCCTGGCCCTGA	0.716																																						ENST00000453558.1																			0																																																			0							g.chr6:30227449C>A	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30227449C>A						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	SNP	ENST00000453558.1	37																																																																																						0.716	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		3	41	1	0	0.150653	1	0.150653	3	41				
MYH4	4622	broad.mit.edu	37	17	10368903	10368903	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:10368903G>T	ENST00000255381.2	-	5	471	c.361C>A	c.(361-363)Ctc>Atc	p.L121I	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	121	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACACAGAAGAGGCCCGAGTAG	0.552																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(361-363)Ctc>Atc		myosin, heavy chain 4, skeletal muscle							90.0	91.0	91.0					17																	10368903		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10368903G>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.361C>A	17.37:g.10368903G>T	ENSP00000255381:p.Leu121Ile					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.L121I	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			5	471	-			121			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.361C>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361596	0.82353	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	D	0.87809	-2.3	4.95	4.95	0.65309	Myosin head, motor domain (3);	0.000000	0.33916	U	0.004432	D	0.93177	0.7827	M	0.77103	2.36	0.80722	D	1	P	0.36712	0.566	P	0.55713	0.782	D	0.93372	0.6736	10	0.87932	D	0	.	18.7315	0.91736	0.0:0.0:1.0:0.0	.	121	Q9Y623	MYH4_HUMAN	I	121	ENSP00000255381:L121I	ENSP00000431873:L121I	L	-	1	0	MYH2;MYH4	10309628	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.339000	0.52135	2.728000	0.93425	0.650000	0.86243	CTC		0.552	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		17	138	1	0	1.99824e-07	1	2.15435e-07	17	138				
IRS4	8471	broad.mit.edu	37	X	107978515	107978515	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:107978515G>T	ENST00000372129.2	-	1	1136	c.1060C>A	c.(1060-1062)Ctg>Atg	p.L354M	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	354					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCGGACAGCAGGGTTAACAGG	0.612																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1060-1062)Ctg>Atg		insulin receptor substrate 4							112.0	117.0	115.0					X																	107978515		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978515G>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1060C>A	X.37:g.107978515G>T	ENSP00000361202:p.Leu354Met						p.L354M	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1136	-			354						Missense_Mutation	SNP	ENST00000372129.2	37	c.1060C>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090952	0.36855	.	.	ENSG00000133124	ENST00000372129	T	0.36699	1.24	4.43	3.56	0.40772	.	0.088488	0.46442	D	0.000298	T	0.39118	0.1066	L	0.32530	0.975	0.27995	N	0.93549	D	0.71674	0.998	D	0.64687	0.928	T	0.18871	-1.0323	10	0.59425	D	0.04	-9.0817	3.9913	0.09538	0.2871:0.0:0.7129:0.0	.	354	O14654	IRS4_HUMAN	M	354	ENSP00000361202:L354M	ENSP00000361202:L354M	L	-	1	2	IRS4	107865171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.990000	0.56965	2.193000	0.70182	0.600000	0.82982	CTG		0.612	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		5	415	1	0	0.014758	1	0.0150859	5	415				
KIF4B	285643	broad.mit.edu	37	5	154395932	154395932	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:154395932A>T	ENST00000435029.4	+	1	2673	c.2513A>T	c.(2512-2514)cAg>cTg	p.Q838L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	838	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGACCTACAGCAGAAGCTG	0.433																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2512-2514)cAg>cTg		kinesin family member 4B							68.0	68.0	68.0					5																	154395932		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395932A>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2513A>T	5.37:g.154395932A>T	ENSP00000387875:p.Gln838Leu						p.Q838L	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2673	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	838			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2513A>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	a	15.09	2.729761	0.48833	.	.	ENSG00000226650	ENST00000435029	T	0.71222	-0.55	1.8	1.8	0.24995	.	.	.	.	.	T	0.80182	0.4576	M	0.82056	2.57	0.58432	D	0.999993	D	0.67145	0.996	D	0.66351	0.943	T	0.79529	-0.1766	9	0.59425	D	0.04	.	7.5505	0.27793	1.0:0.0:0.0:0.0	.	838	Q2VIQ3	KIF4B_HUMAN	L	838	ENSP00000387875:Q838L	ENSP00000387875:Q838L	Q	+	2	0	KIF4B	154376125	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.072000	0.50049	1.091000	0.41335	0.460000	0.39030	CAG		0.433	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			4	59	0	0	0	1	0	4	59				
GLIS3	169792	broad.mit.edu	37	9	3898784	3898784	+	Missense_Mutation	SNP	C	C	T	rs201556131		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:3898784C>T	ENST00000324333.10	-	6	1763	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M	GLIS3-AS1_ENST00000451340.2_RNA|GLIS3_ENST00000381971.3_Missense_Mutation_p.V679M|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	524					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGGACTGCACGGTGAGGCAA	0.592																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1570-1572)Gtg>Atg		GLIS family zinc finger 3							64.0	65.0	64.0					9																	3898784		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3898784C>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1570G>A	9.37:g.3898784C>T	ENSP00000325494:p.Val524Met					GLIS3-AS1_ENST00000451340.2_RNA|GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.V679M	p.V524M	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	6	1763	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	524					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1570G>A	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151096	0.38021	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.47528	0.84;0.84	5.72	4.72	0.59763	.	0.378820	0.19165	N	0.121089	T	0.34774	0.0909	N	0.24115	0.695	0.35460	D	0.796446	D;B;B;B;D	0.63046	0.992;0.265;0.162;0.401;0.977	P;B;B;B;P	0.49047	0.599;0.009;0.032;0.129;0.539	T	0.37361	-0.9709	10	0.31617	T	0.26	.	3.7431	0.08537	0.0:0.6656:0.0:0.3344	.	119;192;192;679;524	Q59FQ6;Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;.;GLIS3_HUMAN	M	524;679	ENSP00000325494:V524M;ENSP00000371398:V679M	ENSP00000325494:V524M	V	-	1	0	GLIS3	3888784	0.996000	0.38824	0.962000	0.40283	0.377000	0.30045	3.409000	0.52657	2.695000	0.91970	0.655000	0.94253	GTG		0.592	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		10	63	0	0	0	1	0	10	63				
RPA1	6117	broad.mit.edu	37	17	1798390	1798390	+	Splice_Site	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:1798390G>A	ENST00000254719.5	+	16	1856		c.e16+1			NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa						base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GACCTACAACGTAAGTAAGGG	0.493								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.e16+1	Nucleotide excision repair (NER)	replication protein A1, 70kDa							113.0	117.0	116.0					17																	1798390		2203	4300	6503	SO:0001630	splice_region_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1798390G>A	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1746+1G>A	17.37:g.1798390G>A								NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			16	1856	+								A8K0Y9|Q59ES9	Splice_Site	SNP	ENST00000254719.5	37		CCDS11014.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236694	0.39498	.	.	ENSG00000132383	ENST00000254719	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4388	0.90656	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPA1	1745140	1.000000	0.71417	0.992000	0.48379	0.071000	0.16799	9.501000	0.97979	2.595000	0.87683	0.555000	0.69702	.		0.493	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945	Intron	40	64	0	0	0	1	0	40	64				
MRPL50	54534	broad.mit.edu	37	9	104160861	104160861	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:104160861G>C	ENST00000374865.4	-	1	35	c.14C>G	c.(13-15)tCt>tGt	p.S5C	ZNF189_ENST00000339664.2_5'Flank|ZNF189_ENST00000259395.4_5'Flank|MRPL50_ENST00000539624.1_Missense_Mutation_p.S5C|ZNF189_ENST00000374861.3_5'Flank	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	5						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GCCCGACACAGATCGCGCCGC	0.547																																						ENST00000374865.4																			0				large_intestine(1)|lung(2)|prostate(2)	5						c.(13-15)tCt>tGt		mitochondrial ribosomal protein L50							101.0	92.0	95.0					9																	104160861		2203	4300	6503	SO:0001583	missense	54534					mitochondrion|ribosome		g.chr9:104160861G>C	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.14C>G	9.37:g.104160861G>C	ENSP00000363999:p.Ser5Cys					MRPL50_ENST00000539624.1_Missense_Mutation_p.S5C	p.S5C	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN			1	35	-		Acute lymphoblastic leukemia(62;0.0559)	5					B7Z358|Q5T7E0|Q9NX15	Missense_Mutation	SNP	ENST00000374865.4	37	c.14C>G	CCDS6753.1	.	.	.	.	.	.	.	.	.	.	G	8.647	0.897298	0.17686	.	.	ENSG00000136897	ENST00000374865;ENST00000539624	T	0.44482	0.92	3.99	-7.98	0.01135	.	2.292630	0.02355	N	0.076332	T	0.20659	0.0497	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09228	-1.0684	10	0.38643	T	0.18	-2.1308	3.1391	0.06450	0.2442:0.3709:0.2887:0.0962	.	5;5	B7Z358;Q8N5N7	.;RM50_HUMAN	C	5	ENSP00000363999:S5C	ENSP00000363999:S5C	S	-	2	0	MRPL50	103200682	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.313000	0.02718	-1.741000	0.01344	-1.024000	0.02432	TCT		0.547	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		14	97	0	0	0	1	0	14	97				
LRRK1	79705	broad.mit.edu	37	15	101598285	101598285	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:101598285T>A	ENST00000388948.3	+	29	4977	c.4618T>A	c.(4618-4620)Ttc>Atc	p.F1540I	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.F1537I	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCAGACAGCCTTCTTCTCATC	0.577																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(4609-4611)Ttc>Atc		leucine-rich repeat kinase 1							79.0	80.0	80.0					15																	101598285		1991	4154	6145	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101598285T>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4618T>A	15.37:g.101598285T>A	ENSP00000373600:p.Phe1540Ile					RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.F1540I	p.F1537I			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		30	5009	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1540						Missense_Mutation	SNP	ENST00000388948.3	37	c.4609T>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626787	0.46840	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.70399	-0.48;-0.48	4.57	4.57	0.56435	.	0.345193	0.31612	N	0.007342	T	0.52256	0.1723	L	0.29908	0.895	0.41952	D	0.990665	P	0.40731	0.728	B	0.28849	0.095	T	0.54193	-0.8330	10	0.20046	T	0.44	.	14.2612	0.66085	0.0:0.0:0.0:1.0	.	1540	Q38SD2	LRRK1_HUMAN	I	1540;1537;231;94	ENSP00000373600:F1540I;ENSP00000284395:F1537I	ENSP00000284395:F1537I	F	+	1	0	LRRK1	99415808	1.000000	0.71417	0.976000	0.42696	0.027000	0.11550	5.120000	0.64685	1.835000	0.53391	0.459000	0.35465	TTC		0.577	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		4	87	0	0	0	1	0	4	87				
PITPNM1	9600	broad.mit.edu	37	11	67266176	67266176	+	Missense_Mutation	SNP	C	C	T	rs151117956	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:67266176C>T	ENST00000534749.1	-	9	1563	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PITPNM1_ENST00000436757.2_Missense_Mutation_p.A459T|PITPNM1_ENST00000356404.3_Missense_Mutation_p.A459T			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	459					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCCTCGAAGGCGGAGCTCAGC	0.662													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		17161	0.0		0.0	False		,,,				2504	0.0				GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(1375-1377)Gcc>Acc		phosphatidylinositol transfer protein, membrane-associated 1							69.0	69.0	69.0					11																	67266176		2200	4295	6495	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67266176C>T	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.1375G>A	11.37:g.67266176C>T	ENSP00000437286:p.Ala459Thr					PITPNM1_ENST00000534749.1_Missense_Mutation_p.A459T|PITPNM1_ENST00000436757.2_Missense_Mutation_p.A459T	p.A459T	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			10	1600	-			459					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.1375G>A	CCDS31620.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	c	4.367	0.067703	0.08436	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.18657	2.2;2.2;2.2	3.94	3.94	0.45596	.	0.129851	0.34507	N	0.003919	T	0.06142	0.0159	N	0.12569	0.235	0.35656	D	0.812185	B;B	0.28233	0.08;0.204	B;B	0.23574	0.047;0.022	T	0.14117	-1.0484	10	0.05833	T	0.94	-1.0673	9.7974	0.40744	0.0:0.8973:0.0:0.1027	.	459;459	O00562-2;O00562	.;PITM1_HUMAN	T	459	ENSP00000437286:A459T;ENSP00000398787:A459T;ENSP00000348772:A459T	ENSP00000348772:A459T	A	-	1	0	PITPNM1	67022752	0.992000	0.36948	0.938000	0.37757	0.488000	0.33401	2.966000	0.49208	2.196000	0.70406	0.550000	0.68814	GCC		0.662	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		56	92	0	0	0	1	0	56	92				
GPM6B	2824	broad.mit.edu	37	X	13795537	13795537	+	Silent	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:13795537A>G	ENST00000356942.5	-	5	1026	c.585T>C	c.(583-585)atT>atC	p.I195I	GPM6B_ENST00000316715.4_Silent_p.I235I|GPM6B_ENST00000493677.1_Silent_p.I209I|GPM6B_ENST00000398361.3_Silent_p.I109I|GPM6B_ENST00000355135.2_Silent_p.I235I|GPM6B_ENST00000454189.2_Silent_p.I176I	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	195					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						CATTCCAAGGAATGATACCTG	0.438																																						ENST00000454189.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						c.(526-528)atT>atC		glycoprotein M6B							127.0	106.0	113.0					X																	13795537		2203	4300	6503	SO:0001819	synonymous_variant	2824				cell differentiation|nervous system development	integral to membrane		g.chrX:13795537A>G		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.585T>C	X.37:g.13795537A>G						GPM6B_ENST00000398361.3_Silent_p.I109I|GPM6B_ENST00000355135.2_Silent_p.I235I|GPM6B_ENST00000316715.4_Silent_p.I235I|GPM6B_ENST00000356942.5_Silent_p.I195I|GPM6B_ENST00000493677.1_Silent_p.I209I	p.I176I	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN			5	655	-			195					O76077|Q86X43|Q8N956	Silent	SNP	ENST00000356942.5	37	c.528T>C	CCDS14158.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.506552	0.26949	.	.	ENSG00000046653	ENST00000472735	.	.	.	5.55	-4.33	0.03677	.	.	.	.	.	T	0.65004	0.2650	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65051	-0.6262	4	.	.	.	-10.2443	15.545	0.76090	0.3845:0.0:0.6155:0.0	rs34332022	.	.	.	P	91	.	.	S	-	1	0	GPM6B	13705458	0.700000	0.27796	0.961000	0.40146	0.994000	0.84299	-0.072000	0.11486	-0.892000	0.03935	0.486000	0.48141	TCC		0.438	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995		3	37	0	0	0	1	0	3	37				
CEP89	84902	broad.mit.edu	37	19	33444650	33444650	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:33444650C>T	ENST00000305768.5	-	4	451	c.363G>A	c.(361-363)ctG>ctA	p.L121L	CEP89_ENST00000590597.2_Silent_p.L121L	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	121					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CCCCATAGTCCAGTGTTTCAA	0.478																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(361-363)ctG>ctA		centrosomal protein 89kDa							172.0	136.0	148.0					19																	33444650		2203	4300	6503	SO:0001819	synonymous_variant	84902					centrosome|spindle pole		g.chr19:33444650C>T	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.363G>A	19.37:g.33444650C>T						CEP89_ENST00000590597.1_Silent_p.L121L	p.L121L	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			4	451	-			121					B9EGA6|Q8N5J8	Silent	SNP	ENST00000305768.5	37	c.363G>A	CCDS32987.1																																																																																				0.478	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		6	62	0	0	0	1	0	6	62				
FAM47A	158724	broad.mit.edu	37	X	34150160	34150160	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:34150160G>A	ENST00000346193.3	-	1	287	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	79										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGATATTTTGGGGAGTAAAAA	0.532																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(235-237)cCc>cTc		family with sequence similarity 47, member A							83.0	82.0	82.0					X																	34150160		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150160G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.236C>T	X.37:g.34150160G>A	ENSP00000345029:p.Pro79Leu						p.P79L	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	287	-			79					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.236C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	6.986	0.552031	0.13374	.	.	ENSG00000185448	ENST00000346193	T	0.22743	1.94	1.1	0.174	0.15040	.	.	.	.	.	T	0.24431	0.0592	L	0.45228	1.405	0.09310	N	0.999991	P	0.48089	0.905	P	0.54460	0.753	T	0.12426	-1.0548	9	0.52906	T	0.07	.	3.3101	0.07014	0.3115:0.0:0.6885:0.0	.	79	Q5JRC9	FA47A_HUMAN	L	79	ENSP00000345029:P79L	ENSP00000345029:P79L	P	-	2	0	FAM47A	34060081	0.049000	0.20398	0.003000	0.11579	0.017000	0.09413	0.645000	0.24782	-0.004000	0.14419	0.499000	0.49734	CCC		0.532	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		45	100	0	0	0	1	0	45	100				
TAF1L	138474	broad.mit.edu	37	9	32631823	32631823	+	Missense_Mutation	SNP	C	C	T	rs374131496		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:32631823C>T	ENST00000242310.4	-	1	3844	c.3755G>A	c.(3754-3756)cGg>cAg	p.R1252Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1252					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCGCTTAAGCCGCCTCAGTTG	0.448													C|||	0	0.0	0.0	0.0	5008	,	,		20383	0.0		0.0	False		,,,				2504	0.0					ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3754-3756)cGg>cAg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like		C	GLN/ARG	0,4406		0,0,2203	91.0	90.0	90.0		3755	1.0	1.0	9		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAF1L	NM_153809.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1252/1827	32631823	1,13005	2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631823C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3755G>A	9.37:g.32631823C>T	ENSP00000418379:p.Arg1252Gln						p.R1252Q	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3844	-			1252					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3755G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097932	0.76870	0.0	1.16E-4	ENSG00000122728	ENST00000242310	T	0.61158	0.13	1.04	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	L	0.54323	1.7	0.53005	D	0.999967	D	0.89917	1.0	D	0.91635	0.999	T	0.63377	-0.6651	10	0.56958	D	0.05	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	1252	Q8IZX4	TAF1L_HUMAN	Q	1252	ENSP00000418379:R1252Q	ENSP00000418379:R1252Q	R	-	2	0	TAF1L	32621823	0.999000	0.42202	0.996000	0.52242	0.423000	0.31445	4.926000	0.63433	0.507000	0.28148	0.195000	0.17529	CGG		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			15	74	0	0	0	1	0	15	74				
ROBO3	64221	broad.mit.edu	37	11	124740574	124740574	+	Missense_Mutation	SNP	C	C	T	rs201285035		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:124740574C>T	ENST00000397801.1	+	6	1175	c.983C>T	c.(982-984)gCg>gTg	p.A328V	ROBO3_ENST00000538940.1_Missense_Mutation_p.A306V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	328	Ig-like C2-type 3.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACCTGTGTGGCGGAGAACAGT	0.602																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(982-984)gCg>gTg		roundabout, axon guidance receptor, homolog 3 (Drosophila)							51.0	55.0	54.0					11																	124740574		2156	4259	6415	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124740574C>T	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.983C>T	11.37:g.124740574C>T	ENSP00000380903:p.Ala328Val					ROBO3_ENST00000538940.1_Missense_Mutation_p.A306V	p.A328V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	6	1175	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	328			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000397801.1	37	c.983C>T	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171942	0.78452	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.72505	-0.66;-0.66	4.21	4.21	0.49690	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36444	N	0.002589	T	0.78438	0.4283	M	0.64997	1.995	0.80722	D	1	D	0.59767	0.986	P	0.56127	0.792	T	0.81389	-0.0955	10	0.59425	D	0.04	.	16.7004	0.85348	0.0:1.0:0.0:0.0	.	328	Q96MS0	ROBO3_HUMAN	V	328;306	ENSP00000380903:A328V;ENSP00000441797:A306V	ENSP00000380903:A328V	A	+	2	0	ROBO3	124245784	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	5.735000	0.68587	2.344000	0.79699	0.462000	0.41574	GCG		0.602	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		3	35	0	0	0	1	0	3	35				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	26	0	0	0	1	0	3	26				
KLHL20	27252	broad.mit.edu	37	1	173726268	173726268	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:173726268A>T	ENST00000209884.4	+	7	1257	c.1121A>T	c.(1120-1122)gAt>gTt	p.D374V	KLHL20_ENST00000546011.1_Missense_Mutation_p.D185V	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	374					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GGAGGCCATGATGGATCCTCT	0.383																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(1120-1122)gAt>gTt		kelch-like family member 20							212.0	199.0	203.0					1																	173726268		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173726268A>T	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1121A>T	1.37:g.173726268A>T	ENSP00000209884:p.Asp374Val					KLHL20_ENST00000546011.1_Missense_Mutation_p.D185V	p.D374V	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN			7	1257	+			374					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.1121A>T	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486674	0.84854	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.81163	-1.46;-1.35	5.43	5.43	0.79202	Galactose oxidase, beta-propeller (1);	0.094778	0.64402	D	0.000001	D	0.90841	0.7123	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93232	0.6618	10	0.87932	D	0	.	14.4713	0.67519	1.0:0.0:0.0:0.0	.	185;374	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	V	185;374	ENSP00000443121:D185V;ENSP00000209884:D374V	ENSP00000209884:D374V	D	+	2	0	KLHL20	171992891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.104000	0.94239	2.048000	0.60808	0.528000	0.53228	GAT		0.383	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		4	121	0	0	0	1	0	4	121				
DNM1P47	100216544	broad.mit.edu	37	15	102304883	102304883	+	RNA	SNP	C	C	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:102304883C>G	ENST00000561463.1	+	0	12929									DNM1 pseudogene 47																		CGCGTGGGAACGAGAAGACAC	0.562																																						ENST00000561463.1																			0																																																			0							g.chr15:102304883C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304883C>G														0	12929	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.562	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	27	0	0	0	1	0	4	27				
SIGLEC1	6614	broad.mit.edu	37	20	3674159	3674159	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:3674159C>A	ENST00000344754.4	-	13	3442	c.3443G>T	c.(3442-3444)cGc>cTc	p.R1148L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1148L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1148	Ig-like C2-type 11.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CACACCGCAGCGGTAGGAGGT	0.657																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3442-3444)cGc>cTc		sialic acid binding Ig-like lectin 1, sialoadhesin							41.0	41.0	41.0					20																	3674159		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3674159C>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3443G>T	20.37:g.3674159C>A	ENSP00000341141:p.Arg1148Leu					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1148L	p.R1148L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			13	3442	-			1148			Ig-like C2-type 11.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3443G>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932305	0.34096	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.13901	2.55;2.55	5.52	1.15	0.20763	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.347131	0.21314	N	0.076598	T	0.18841	0.0452	M	0.73372	2.23	0.31434	N	0.672806	P;P	0.39022	0.655;0.603	P;B	0.47981	0.563;0.427	T	0.14952	-1.0454	10	0.10377	T	0.69	.	7.8017	0.29178	0.0:0.6201:0.0:0.3798	.	1148;1148	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	L	1148	ENSP00000341141:R1148L;ENSP00000202578:R1148L	ENSP00000202578:R1148L	R	-	2	0	SIGLEC1	3622159	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	0.502000	0.22594	0.233000	0.21120	-0.137000	0.14449	CGC		0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		3	40	1	0	0.115264	1	0.116105	3	40				
SLC38A6	145389	broad.mit.edu	37	14	61446302	61446302	+	5'Flank	SNP	A	A	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:61446302A>C	ENST00000267488.4	+	0	0				SLC38A6_ENST00000354886.2_5'Flank|RP11-193F5.1_ENST00000553946.1_RNA|TRMT5_ENST00000261249.6_Missense_Mutation_p.I105R|SLC38A6_ENST00000456840.2_5'Flank	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTTACTGACTATTTCTTTCCT	0.408																																						ENST00000261249.6																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11						c.(313-315)aTa>aGa		tRNA methyltransferase 5							196.0	199.0	198.0					14																	61446302		2203	4300	6503	SO:0001631	upstream_gene_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61446302A>C	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335		14.37:g.61446302A>C	Exception_encountered					RP11-193F5.1_ENST00000553946.1_RNA	p.I105R	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	2	698	-			105					C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	c.314T>G	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.724635	0.30593	.	.	ENSG00000126814	ENST00000261249;ENST00000553903;ENST00000555420	T	0.21543	2.0	4.59	4.59	0.56863	.	0.351548	0.32703	N	0.005757	T	0.22513	0.0543	M	0.61703	1.905	0.58432	D	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.05068	-1.0908	10	0.17832	T	0.49	-19.4042	14.4147	0.67142	1.0:0.0:0.0:0.0	.	105	Q32P41	TRM5_HUMAN	R	105;133;132	ENSP00000261249:I105R	ENSP00000261249:I105R	I	-	2	0	TRMT5	60516055	1.000000	0.71417	0.967000	0.41034	0.626000	0.37791	6.864000	0.75494	2.049000	0.60858	0.533000	0.62120	ATA		0.408	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			19	136	0	0	0	1	0	19	136				
DNM1P47	100216544	broad.mit.edu	37	15	102304884	102304884	+	RNA	SNP	G	G	A	rs192934815		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:102304884G>A	ENST00000561463.1	+	0	12930									DNM1 pseudogene 47																		GCGTGGGAACGAGAAGACACT	0.562																																						ENST00000561463.1																			0																																																			0							g.chr15:102304884G>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304884G>A														0	12930	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.562	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	25	0	0	0	1	0	4	25				
GCN1L1	10985	broad.mit.edu	37	12	120594273	120594273	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:120594273C>T	ENST00000300648.6	-	28	3316	c.3304G>A	c.(3304-3306)Gtg>Atg	p.V1102M	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1102					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCCGGAGCACGGTTTCCCGC	0.577																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(3304-3306)Gtg>Atg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							45.0	51.0	49.0					12																	120594273		2176	4267	6443	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120594273C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3304G>A	12.37:g.120594273C>T	ENSP00000300648:p.Val1102Met						p.V1102M	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			28	3316	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1102					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.3304G>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195926	0.38806	.	.	ENSG00000089154	ENST00000300648	T	0.38887	1.11	6.06	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.275863	0.40818	N	0.001007	T	0.28995	0.0720	L	0.29908	0.895	0.35022	D	0.757954	P	0.41498	0.752	B	0.28638	0.092	T	0.44065	-0.9352	10	0.51188	T	0.08	.	16.199	0.82057	0.1434:0.8566:0.0:0.0	.	1102	Q92616	GCN1L_HUMAN	M	1102	ENSP00000300648:V1102M	ENSP00000300648:V1102M	V	-	1	0	GCN1L1	119078656	1.000000	0.71417	0.047000	0.18901	0.054000	0.15201	5.520000	0.67080	1.495000	0.48549	0.655000	0.94253	GTG		0.577	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			13	60	0	0	0	1	0	13	60				
RABL3	285282	broad.mit.edu	37	3	120417392	120417392	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:120417392T>A	ENST00000273375.3	-	5	441	c.412A>T	c.(412-414)Aac>Tac	p.N138Y	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.N138Y	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	138	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		GGTATTTGGTTATCAGCAAAC	0.363																																						ENST00000273375.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17						c.(412-414)Aac>Tac		RAB, member of RAS oncogene family-like 3							214.0	230.0	225.0					3																	120417392		2203	4296	6499	SO:0001583	missense	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120417392T>A	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.412A>T	3.37:g.120417392T>A	ENSP00000273375:p.Asn138Tyr					RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.N138Y	p.N138Y	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	5	441	-			138			Small GTPase-like.		Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	c.412A>T	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140175	0.77775	.	.	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.77489	-1.1;-1.1	5.84	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.83229	0.5209	L	0.55990	1.75	0.58432	D	0.999996	D	0.61697	0.99	D	0.64877	0.93	D	0.84009	0.0347	10	0.54805	T	0.06	-11.9147	12.5337	0.56131	0.0:0.0:0.1385:0.8614	.	138	Q5HYI8	RABL3_HUMAN	Y	138	ENSP00000273375:N138Y;ENSP00000419986:N138Y	ENSP00000273375:N138Y	N	-	1	0	RABL3	121900082	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.847000	0.69451	2.230000	0.72887	0.528000	0.53228	AAC		0.363	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		73	157	0	0	0	1	0	73	157				
GJB6	10804	broad.mit.edu	37	13	20797370	20797370	+	Missense_Mutation	SNP	C	C	T	rs538884824		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr13:20797370C>T	ENST00000356192.6	-	5	870	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	GJB6_ENST00000400066.3_Missense_Mutation_p.V84I|GJB6_ENST00000241124.6_Missense_Mutation_p.V84I|GJB6_ENST00000400065.3_Missense_Mutation_p.V84I	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	84					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GGGGTGGAGACGAAGATCAGC	0.552													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19651	0.0		0.0	False		,,,				2504	0.0					ENST00000356192.6																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9						c.(250-252)Gtc>Atc		gap junction protein, beta 6, 30kDa							57.0	49.0	52.0					13																	20797370		2203	4300	6503	SO:0001583	missense	0				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle		g.chr13:20797370C>T	AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"""Ion channels / Gap junction proteins (connexins)"""	4288	protein-coding gene	gene with protein product	"""connexin 30"""	604418	"""ectodermal dysplasia 2, hidrotic (Clouston syndrome)"", ""gap junction protein, beta 6 (connexin 30)"", ""gap junction protein, beta 6"""	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.250G>A	13.37:g.20797370C>T	ENSP00000348521:p.Val84Ile					GJB6_ENST00000400066.3_Missense_Mutation_p.V84I|GJB6_ENST00000241124.6_Missense_Mutation_p.V84I|GJB6_ENST00000400065.3_Missense_Mutation_p.V84I	p.V84I	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)	5	870	-		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	84					B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	ENST00000356192.6	37	c.250G>A	CCDS9291.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135681	0.94517	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.99298	-5.71;-5.71;-5.71;-5.71	5.28	5.28	0.74379	Connexin, N-terminal (1);	0.000000	0.64402	D	0.000003	D	0.99393	0.9786	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99198	1.0872	10	0.87932	D	0	.	18.9412	0.92605	0.0:1.0:0.0:0.0	.	84	O95452	CXB6_HUMAN	I	84	ENSP00000241124:V84I;ENSP00000382938:V84I;ENSP00000382939:V84I;ENSP00000348521:V84I	ENSP00000241124:V84I	V	-	1	0	GJB6	19695370	1.000000	0.71417	0.901000	0.35422	0.934000	0.57294	7.770000	0.85390	2.450000	0.82876	0.655000	0.94253	GTC		0.552	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			8	43	0	0	0	1	0	8	43				
FZD6	8323	broad.mit.edu	37	8	104337523	104337523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:104337523C>T	ENST00000358755.4	+	4	1506	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	FZD6_ENST00000522566.1_Nonsense_Mutation_p.R397*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.R365*|FZD6_ENST00000540287.1_Nonsense_Mutation_p.R92*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	397					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAATCATGTTCGACAAGTCAT	0.418																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1189-1191)Cga>Tga		frizzled family receptor 6							190.0	188.0	188.0					8																	104337523		2203	4300	6503	SO:0001587	stop_gained	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104337523C>T	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1189C>T	8.37:g.104337523C>T	ENSP00000351605:p.Arg397*					FZD6_ENST00000522566.1_Nonsense_Mutation_p.R397*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.R365*|FZD6_ENST00000540287.1_Nonsense_Mutation_p.R92*	p.R397*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		4	1506	+			397					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Nonsense_Mutation	SNP	ENST00000358755.4	37	c.1189C>T	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	C	40	8.074534	0.98640	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	.	.	.	6.03	5.16	0.70880	.	0.059527	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4324	0.75112	0.0:0.9336:0.0:0.0664	.	.	.	.	X	397;397;365;92;342	.	ENSP00000351605:R397X	R	+	1	2	FZD6	104406699	1.000000	0.71417	0.935000	0.37517	0.983000	0.72400	4.888000	0.63164	1.567000	0.49668	0.557000	0.71058	CGA		0.418	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		5	202	0	0	0	1	0	5	202				
RINT1	60561	broad.mit.edu	37	7	105187664	105187664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:105187664G>A	ENST00000257700.2	+	6	954	c.723G>A	c.(721-723)tgG>tgA	p.W241*		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	241	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGCTTCATTGGCCATTCATCG	0.433																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(721-723)tgG>tgA		RAD50 interactor 1							143.0	149.0	147.0					7																	105187664		2203	4300	6503	SO:0001587	stop_gained	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105187664G>A	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.723G>A	7.37:g.105187664G>A	ENSP00000257700:p.Trp241*						p.W241*	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			6	954	+			241			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Nonsense_Mutation	SNP	ENST00000257700.2	37	c.723G>A	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	38	6.949625	0.97956	.	.	ENSG00000135249	ENST00000257700	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4141	19.3964	0.94608	0.0:0.0:1.0:0.0	.	.	.	.	X	241	.	ENSP00000257700:W241X	W	+	3	0	RINT1	104974900	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.562000	0.98145	2.582000	0.87167	0.655000	0.94253	TGG		0.433	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		5	151	0	0	0	1	0	5	151				
CCNB1IP1	57820	broad.mit.edu	37	14	20779890	20779890	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:20779890A>G	ENST00000398169.3	-	7	1269	c.653T>C	c.(652-654)tTg>tCg	p.L218S	CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.L218S			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	218					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TGTATTATCCAAAGGAAACTT	0.388			T	HMGA2	leiomyoma																																	ENST00000398169.3				Dom	yes		14	14q11.2	57820	T	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""			M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(652-654)tTg>tCg		cyclin B1 interacting protein 1, E3 ubiquitin protein ligase							65.0	66.0	66.0					14																	20779890		2203	4300	6503	SO:0001583	missense	57820					chromosome|nucleus	ligase activity|metal ion binding|protein binding	g.chr14:20779890A>G	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.653T>C	14.37:g.20779890A>G	ENSP00000381235:p.Leu218Ser					CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.L218S	p.L218S			Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)	7	1269	-	all_cancers(95;0.00092)	all_lung(585;0.235)	218						Missense_Mutation	SNP	ENST00000398169.3	37	c.653T>C	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	A	9.519	1.107673	0.20714	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163	.	.	.	5.0	2.58	0.30949	.	0.874774	0.09958	N	0.733748	T	0.27663	0.0680	N	0.19112	0.55	0.33728	D	0.617864	B	0.13145	0.007	B	0.16289	0.015	T	0.35375	-0.9791	9	0.16420	T	0.52	-1.3031	4.1093	0.10052	0.634:0.1783:0.1877:0.0	.	218	Q9NPC3	CIP1_HUMAN	S	218	.	ENSP00000337396:L218S	L	-	2	0	CCNB1IP1	19849730	1.000000	0.71417	0.998000	0.56505	0.277000	0.26821	1.439000	0.35013	0.815000	0.34398	0.528000	0.53228	TTG		0.388	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		37	42	0	0	0	1	0	37	42				
CYP11A1	1583	broad.mit.edu	37	15	74630950	74630950	+	Missense_Mutation	SNP	G	G	A	rs368047178		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:74630950G>A	ENST00000268053.6	-	8	1550	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	CYP11A1_ENST00000358632.4_Missense_Mutation_p.R308W|CYP11A1_ENST00000419019.2_Missense_Mutation_p.R308W	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	466					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TCAGCGATCCGCCGTCCCAGA	0.557																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(922-924)Cgg>Tgg		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	G	TRP/ARG,TRP/ARG	0,4396		0,0,2198	147.0	128.0	134.0		1396,922	1.8	1.0	15		134	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	CYP11A1	NM_000781.2,NM_001099773.1	101,101	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	466/522,308/364	74630950	1,12989	2198	4297	6495	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74630950G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1396C>T	15.37:g.74630950G>A	ENSP00000268053:p.Arg466Trp					CYP11A1_ENST00000268053.6_Missense_Mutation_p.R466W|CYP11A1_ENST00000419019.2_Missense_Mutation_p.R308W	p.R308W	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN			8	1617	-			466					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.922C>T	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553091	0.65425	0.0	1.16E-4	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.70282	-0.47;-0.47;-0.47	5.14	1.78	0.24846	.	0.047741	0.85682	D	0.000000	D	0.82683	0.5090	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84695	0.0725	10	0.87932	D	0	-19.6156	14.1095	0.65113	0.0:0.0:0.4987:0.5013	.	436;466	B4DTE5;P05108	.;CP11A_HUMAN	W	466;308;308;231	ENSP00000268053:R466W;ENSP00000351455:R308W;ENSP00000405488:R308W	ENSP00000268053:R466W	R	-	1	2	CYP11A1	72418003	1.000000	0.71417	0.994000	0.49952	0.716000	0.41182	2.857000	0.48349	0.506000	0.28125	0.542000	0.68232	CGG		0.557	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			4	156	0	0	0	1	0	4	156				
AKAP4	8852	broad.mit.edu	37	X	49957836	49957836	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:49957836G>T	ENST00000376056.2	-	5	1651	c.1501C>A	c.(1501-1503)Caa>Aaa	p.Q501K	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.Q501K|AKAP4_ENST00000358526.2_Missense_Mutation_p.Q510K|AKAP4_ENST00000376058.2_Intron					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTTGCTTTTGGTTCCAGATG	0.453																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1501-1503)Caa>Aaa		A kinase (PRKA) anchor protein 4							218.0	190.0	199.0					X																	49957836		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957836G>T	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1501C>A	X.37:g.49957836G>T	ENSP00000365224:p.Gln501Lys					AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.Q501K|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.Q510K	p.Q501K			Q5JQC9	AKAP4_HUMAN			5	1651	-	Ovarian(276;0.236)		510						Missense_Mutation	SNP	ENST00000376056.2	37	c.1501C>A	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	5.158	0.214750	0.09810	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.05717	3.4;3.4;3.4	4.83	4.83	0.62350	A-kinase anchor 110kDa, C-terminal (1);	0.127211	0.34750	N	0.003704	T	0.11196	0.0273	N	0.17379	0.485	0.80722	D	1	D	0.62365	0.991	D	0.71414	0.973	T	0.36212	-0.9757	9	.	.	.	-12.2698	12.4754	0.55809	0.0:0.0:1.0:0.0	.	510	Q5JQC9	AKAP4_HUMAN	K	501;510;501	ENSP00000365224:Q501K;ENSP00000351327:Q510K;ENSP00000365232:Q501K	.	Q	-	1	0	AKAP4	49844576	1.000000	0.71417	0.997000	0.53966	0.716000	0.41182	2.952000	0.49097	1.995000	0.58328	0.464000	0.42555	CAA		0.453	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		7	147	1	0	0.00307968	1	0.00319546	7	147				
PRPF8	10594	broad.mit.edu	37	17	1578465	1578465	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:1578465T>C	ENST00000572621.1	-	19	3306	c.3041A>G	c.(3040-3042)aAc>aGc	p.N1014S	PRPF8_ENST00000304992.6_Missense_Mutation_p.N1014S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1014	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GATGACGACGTTGTTCTTGGC	0.507																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3040-3042)aAc>aGc		pre-mRNA processing factor 8							228.0	149.0	176.0					17																	1578465		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1578465T>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3041A>G	17.37:g.1578465T>C	ENSP00000460348:p.Asn1014Ser					PRPF8_ENST00000304992.6_Missense_Mutation_p.N1014S	p.N1014S			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	19	3306	-			1014					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3041A>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.884109	0.72410	.	.	ENSG00000174231	ENST00000304992	D	0.82526	-1.62	5.89	5.89	0.94794	RNA recognition motif, spliceosomal PrP8 (1);	0.000000	0.85682	D	0.000000	D	0.93677	0.7980	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95234	0.8345	10	0.87932	D	0	.	16.3109	0.82869	0.0:0.0:0.0:1.0	.	1014	Q6P2Q9	PRP8_HUMAN	S	1014	ENSP00000304350:N1014S	ENSP00000304350:N1014S	N	-	2	0	PRPF8	1525215	1.000000	0.71417	0.933000	0.37362	0.697000	0.40408	7.991000	0.88244	2.257000	0.74773	0.460000	0.39030	AAC		0.507	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			17	39	0	0	0	1	0	17	39				
FTCD	10841	broad.mit.edu	37	21	47571515	47571515	+	Missense_Mutation	SNP	C	C	T	rs142358848	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr21:47571515C>T	ENST00000291670.5	-	5	636	c.593G>A	c.(592-594)cGc>cAc	p.R198H	FTCD_ENST00000397743.1_Missense_Mutation_p.R198H|FTCD_ENST00000397746.3_Missense_Mutation_p.R198H|FTCD_ENST00000359679.2_Missense_Mutation_p.R198H|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000355384.2_Missense_Mutation_p.R198H|FTCD_ENST00000397748.1_Missense_Mutation_p.R198H|FTCD_ENST00000498355.2_5'UTR	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	198	Formiminotransferase C-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GAGCGCGATGCGGTGGGCTTG	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		14197	0.002		0.0	False		,,,				2504	0.0					ENST00000397748.1																			0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(592-594)cGc>cAc		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	66.0	70.0	69.0		593,593	4.2	1.0	21	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FTCD	NM_006657.2,NM_206965.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	198/542,198/542	47571515	1,13005	2203	4300	6503	SO:0001583	missense	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47571515C>T	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.593G>A	21.37:g.47571515C>T	ENSP00000291670:p.Arg198His					FTCD_ENST00000397743.1_Missense_Mutation_p.R198H|FTCD_ENST00000355384.2_Missense_Mutation_p.R198H|FTCD_ENST00000397746.3_Missense_Mutation_p.R198H|FTCD_ENST00000359679.2_Missense_Mutation_p.R198H|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Missense_Mutation_p.R198H	p.R198H			O95954	FTCD_HUMAN		Colorectal(79;0.235)	5	636	-	Breast(49;0.214)		198			Formiminotransferase C-subdomain (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	37	c.593G>A	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682765	0.88542	0.0	1.16E-4	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	4.23	4.23	0.50019	Formiminotransferas, N- and C-terminal subdomains (1);Formiminotransferase, C-terminal subdomain (2);Formiminotransferase catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.91005	0.7171	M	0.88377	2.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.984;0.997	D	0.93013	0.6433	10	0.66056	D	0.02	-9.1224	16.6242	0.84937	0.0:1.0:0.0:0.0	.	198;198;198	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	H	198	ENSP00000291670:R198H;ENSP00000380856:R198H;ENSP00000352707:R198H;ENSP00000347545:R198H;ENSP00000380854:R198H;ENSP00000380851:R198H	ENSP00000291670:R198H	R	-	2	0	FTCD	46395943	1.000000	0.71417	0.997000	0.53966	0.518000	0.34316	7.593000	0.82686	1.875000	0.54330	0.467000	0.42956	CGC		0.642	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		4	129	0	0	0	1	0	4	129				
GCNT2	2651	broad.mit.edu	37	6	10529180	10529180	+	Silent	SNP	G	G	A	rs142352495	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:10529180G>A	ENST00000379597.3	+	1	592	c.36G>A	c.(34-36)gcG>gcA	p.A12A	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Silent_p.A12A			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	12					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTTTTAGCGCGTCTCTTATCT	0.388													G|||	8	0.00159744	0.0053	0.0	5008	,	,		19532	0.0		0.0	False		,,,				2504	0.001					ENST00000379597.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(34-36)gcG>gcA		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)		G		1,4405	4.2+/-10.8	0,1,2202	143.0	129.0	134.0		36	-1.2	0.0	6	dbSNP_134	134	0,8600		0,0,4300	no	coding-synonymous	GCNT2	NM_145649.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		12/403	10529180	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529180G>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.36G>A	6.37:g.10529180G>A						GCNT2_ENST00000495262.1_Silent_p.A12A|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	p.A12A			Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	592	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	12						Silent	SNP	ENST00000379597.3	37	c.36G>A	CCDS34338.1																																																																																				0.388	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		11	90	0	0	0	1	0	11	90				
GTPBP8	29083	broad.mit.edu	37	3	112709901	112709901	+	Missense_Mutation	SNP	G	G	A	rs565265086	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:112709901G>A	ENST00000383678.2	+	1	137	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000473129.1_5'Flank|GTPBP8_ENST00000383677.3_Missense_Mutation_p.V19M|GTPBP8_ENST00000467752.1_5'Flank	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	19					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AATGCCTGCGGTGCTAGAGCG	0.607													G|||	2	0.000399361	0.0	0.0	5008	,	,		16042	0.0		0.0	False		,,,				2504	0.002					ENST00000383677.3																			0				kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						c.(55-57)Gtg>Atg		GTP-binding protein 8 (putative)							24.0	31.0	28.0					3																	112709901		2202	4300	6502	SO:0001583	missense	29083				barrier septum formation		GTP binding	g.chr3:112709901G>A	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.55G>A	3.37:g.112709901G>A	ENSP00000373176:p.Val19Met					GTPBP8_ENST00000383678.2_Missense_Mutation_p.V19M	p.V19M	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN			1	70	+			19					A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	ENST00000383678.2	37	c.55G>A	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302688	0.60195	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.44083	0.93;0.95	5.98	-0.015	0.13978	.	1.150700	0.06350	N	0.709693	T	0.24275	0.0588	N	0.12182	0.205	0.09310	N	0.999996	B;B	0.18610	0.029;0.017	B;B	0.16289	0.015;0.006	T	0.22730	-1.0208	10	0.45353	T	0.12	-17.3481	5.866	0.18775	0.3637:0.1255:0.5108:0.0	.	19;19	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	M	19	ENSP00000373176:V19M;ENSP00000373175:V19M	ENSP00000295864:V19M	V	+	1	0	GTPBP8	114192591	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.278000	0.18753	-0.296000	0.08947	0.591000	0.81541	GTG		0.607	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170		38	37	0	0	0	1	0	38	37				
CD44	960	broad.mit.edu	37	11	35198139	35198139	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:35198139C>T	ENST00000428726.2	+	2	208	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	CD44_ENST00000352818.4_Missense_Mutation_p.R29C|CD44_ENST00000437706.2_Missense_Mutation_p.R29C|CD44_ENST00000434472.2_Missense_Mutation_p.R29C|CD44_ENST00000263398.6_Missense_Mutation_p.R29C|CD44_ENST00000449691.2_Missense_Mutation_p.R29C|CD44_ENST00000433354.2_Missense_Mutation_p.R29C|CD44_ENST00000415148.2_Missense_Mutation_p.R29C|CD44_ENST00000433892.2_Missense_Mutation_p.R29C|CD44_ENST00000526669.2_Missense_Mutation_p.R29C|CD44_ENST00000360158.4_Missense_Mutation_p.R29C|CD44_ENST00000526025.1_Missense_Mutation_p.R29C|CD44_ENST00000278386.6_Missense_Mutation_p.R29C	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	29					blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	TATAACCTGCCGCTTTGCAGG	0.433																																						ENST00000263398.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(85-87)Cgc>Tgc		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						40.0	42.0	41.0					11																	35198139		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35198139C>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.85C>T	11.37:g.35198139C>T	ENSP00000398632:p.Arg29Cys					CD44_ENST00000278386.6_Missense_Mutation_p.R29C|CD44_ENST00000526669.2_Missense_Mutation_p.R29C|CD44_ENST00000526025.1_Missense_Mutation_p.R29C|CD44_ENST00000352818.4_Missense_Mutation_p.R29C|CD44_ENST00000433892.2_Missense_Mutation_p.R29C|CD44_ENST00000449691.2_Missense_Mutation_p.R29C|CD44_ENST00000415148.2_Missense_Mutation_p.R29C|CD44_ENST00000433354.2_Missense_Mutation_p.R29C|CD44_ENST00000360158.4_Missense_Mutation_p.R29C|CD44_ENST00000434472.2_Missense_Mutation_p.R29C|CD44_ENST00000428726.2_Missense_Mutation_p.R29C|CD44_ENST00000437706.2_Missense_Mutation_p.R29C	p.R29C	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		2	519	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	29					A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.85C>T	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.67|16.67	3.188765|3.188765	0.57909|0.57909	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000442151|ENST00000263398;ENST00000526025;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000278386;ENST00000434472;ENST00000352818;ENST00000525211;ENST00000526669;ENST00000526000	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.12774	.|2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	5.85|5.85	4.88|4.88	0.63580|0.63580	.|C-type lectin fold (1);	.|0.058335	.|0.64402	.|D	.|0.000003	T|T	0.33614|0.33614	0.0869|0.0869	M|M	0.63843|0.63843	1.955|1.955	0.54753|0.54753	D|D	0.999986|0.999986	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;0.999;1.0;1.0;0.999;0.997	T|T	0.01460|0.01460	-1.1349|-1.1349	5|10	.|0.87932	.|D	.|0	-22.8677|-22.8677	13.1481|13.1481	0.59474|0.59474	0.19:0.81:0.0:0.0|0.19:0.81:0.0:0.0	.|.	.|29;29;29;29;29;29;29	.|B6EAT9;P16070-11;O95370;P16070-12;P16070-10;P16070-4;P16070	.|.;.;.;.;.;.;CD44_HUMAN	L|C	28|29;29;29;29;29;29;29;29;29;29;29;29;8;8;7	.|ENSP00000263398:R29C;ENSP00000435377:R29C;ENSP00000389830:R29C;ENSP00000414567:R29C;ENSP00000391008:R29C;ENSP00000403990:R29C;ENSP00000353280:R29C;ENSP00000398632:R29C;ENSP00000392331:R29C;ENSP00000278386:R29C;ENSP00000404447:R29C;ENSP00000309732:R29C;ENSP00000432405:R8C;ENSP00000434465:R7C	.|ENSP00000263398:R29C	P|R	+|+	2|1	0|0	CD44|CD44	35154715|35154715	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.588000|0.588000	0.36517|0.36517	1.928000|1.928000	0.40104|0.40104	2.771000|2.771000	0.95319|0.95319	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.433	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		19	29	0	0	0	1	0	19	29				
TMC1	117531	broad.mit.edu	37	9	75441910	75441910	+	Splice_Site	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:75441910T>C	ENST00000297784.5	+	21	2669	c.2129T>C	c.(2128-2130)gTt>gCt	p.V710A	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Splice_Site_p.V710A|TMC1_ENST00000396237.3_Splice_Site_p.V710A	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	710					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTGGTGATGGTGTATGTGCTT	0.473																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.e21+1		transmembrane channel-like 1							344.0	314.0	324.0					9																	75441910		2203	4300	6503	SO:0001630	splice_region_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75441910T>C	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2129+1T>C	9.37:g.75441910T>C						TMC1_ENST00000340019.3_Splice_Site_p.V710_splice|TMC1_ENST00000396237.3_Splice_Site_p.V710_splice|TMC1_ENST00000486417.1_3'UTR	p.V710_splice	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			21	2669	+			710					A8MVZ2|B1AM91	Splice_Site	SNP	ENST00000297784.5	37	c.2129_splice	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877753	0.51801	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.68479	-0.33;-0.33;-0.33	5.4	-8.18	0.01053	.	0.595355	0.16456	N	0.213639	T	0.50531	0.1621	L	0.54323	1.7	0.29746	N	0.836754	B;B;B	0.24721	0.11;0.11;0.11	B;B;B	0.26864	0.074;0.074;0.042	T	0.33727	-0.9857	10	0.20046	T	0.44	-0.3409	9.7588	0.40519	0.0:0.4528:0.1008:0.4464	.	677;677;710	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	A	710;710;677;677;704;710	ENSP00000297784:V710A;ENSP00000341433:V710A;ENSP00000379538:V710A	ENSP00000297784:V710A	V	+	2	0	TMC1	74631730	0.971000	0.33674	0.605000	0.28930	0.941000	0.58515	0.074000	0.14662	-1.793000	0.01258	0.477000	0.44152	GTT		0.473	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1		Missense_Mutation	35	230	0	0	0	1	0	35	230				
RP1	6101	broad.mit.edu	37	8	55533908	55533908	+	Missense_Mutation	SNP	C	C	G	rs147116231	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:55533908C>G	ENST00000220676.1	+	2	530	c.382C>G	c.(382-384)Ctc>Gtc	p.L128V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	128					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCGGCCCTGGCTCAGCAGCCG	0.697																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(382-384)Ctc>Gtc		retinitis pigmentosa 1 (autosomal dominant)							26.0	33.0	30.0					8																	55533908		2194	4294	6488	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533908C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.382C>G	8.37:g.55533908C>G	ENSP00000220676:p.Leu128Val						p.L128V	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	530	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	128						Missense_Mutation	SNP	ENST00000220676.1	37	c.382C>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042164	0.35989	.	.	ENSG00000104237	ENST00000220676	D	0.87103	-2.21	4.9	4.9	0.64082	Doublecortin domain (1);	0.532611	0.16143	N	0.227643	D	0.84875	0.5569	M	0.63428	1.95	0.38818	D	0.95557	P	0.42827	0.791	B	0.35859	0.212	D	0.85314	0.1080	10	0.29301	T	0.29	0.1336	18.0907	0.89475	0.0:1.0:0.0:0.0	.	128	P56715	RP1_HUMAN	V	128	ENSP00000220676:L128V	ENSP00000220676:L128V	L	+	1	0	RP1	55696461	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.568000	0.45965	2.273000	0.75805	0.650000	0.86243	CTC		0.697	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		6	184	0	0	0	1	0	6	184				
ADCY4	196883	broad.mit.edu	37	14	24791275	24791275	+	Silent	SNP	G	G	A	rs79119787		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:24791275G>A	ENST00000310677.4	-	21	2696	c.2583C>T	c.(2581-2583)aaC>aaT	p.N861N	ADCY4_ENST00000554068.2_Silent_p.N861N|ADCY4_ENST00000418030.2_Silent_p.N861N	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	861					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GAGTCACCTCGTTGCGCCGGT	0.587																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2581-2583)aaC>aaT		adenylate cyclase 4							112.0	104.0	107.0					14																	24791275		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24791275G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2583C>T	14.37:g.24791275G>A						ADCY4_ENST00000554068.2_Silent_p.N861N|ADCY4_ENST00000418030.2_Silent_p.N861N	p.N861N	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	21	2696	-			861					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.2583C>T	CCDS9627.1																																																																																				0.587	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			6	164	0	0	0	1	0	6	164				
ADH1B	125	broad.mit.edu	37	4	100235199	100235199	+	Missense_Mutation	SNP	C	C	T	rs201999694		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr4:100235199C>T	ENST00000305046.8	-	6	674	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	ADH1B_ENST00000394887.3_Missense_Mutation_p.G163R			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	203					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGGCCGACCCCTCCCAGGCCA	0.468																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(607-609)Ggg>Agg		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						164.0	170.0	168.0					4																	100235199		2203	4300	6503	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100235199C>T	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.607G>A	4.37:g.100235199C>T	ENSP00000306606:p.Gly203Arg					ADH1B_ENST00000394887.3_Missense_Mutation_p.G163R	p.G203R			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	6	674	-			203					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.607G>A	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932758	0.73442	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.12255	2.7;2.7	3.81	3.81	0.43845	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.057186	0.64402	D	0.000002	T	0.56337	0.1978	H	0.99325	4.515	0.58432	D	0.999993	D;D;D	0.76494	0.991;0.999;0.983	D;D;D	0.75020	0.985;0.967;0.968	T	0.78450	-0.2199	10	0.87932	D	0	-9.6084	15.683	0.77388	0.0:1.0:0.0:0.0	.	190;163;203	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	R	203;163;190	ENSP00000306606:G203R;ENSP00000378351:G163R	ENSP00000306606:G203R	G	-	1	0	ADH1B	100454222	1.000000	0.71417	0.984000	0.44739	0.628000	0.37860	7.074000	0.76791	1.641000	0.50575	0.561000	0.74099	GGG		0.468	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		6	309	0	0	0	1	0	6	309				
TRPM1	4308	broad.mit.edu	37	15	31318363	31318363	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:31318363C>T	ENST00000256552.6	-	27	3755	c.3608G>A	c.(3607-3609)cGc>cAc	p.R1203H	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1181H|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1220H	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GACCCGGATGCGCTCGTCGCT	0.632																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3658-3660)cGc>cAc		transient receptor potential cation channel, subfamily M, member 1							57.0	61.0	60.0					15																	31318363		2096	4226	6322	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31318363C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3608G>A	15.37:g.31318363C>T	ENSP00000256552:p.Arg1203His					TRPM1_ENST00000397795.2_Missense_Mutation_p.R1181H|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1203H|RP11-348B17.1_ENST00000561299.1_RNA	p.R1220H	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	26	3972	-		all_lung(180;1.92e-11)	1181						Missense_Mutation	SNP	ENST00000256552.6	37	c.3659G>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	36	5.686881	0.96784	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.57907	0.37;0.37;0.37	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	M	0.82132	2.575	0.58432	D	0.999997	D;D	0.71674	0.998;0.988	D;P	0.63877	0.919;0.767	T	0.77568	-0.2539	10	0.87932	D	0	-26.0011	19.3967	0.94610	0.0:1.0:0.0:0.0	.	1175;1181	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	H	1181;1220;1203;1181	ENSP00000380897:R1181H;ENSP00000437849:R1220H;ENSP00000256552:R1203H	ENSP00000256552:R1203H	R	-	2	0	TRPM1	29105655	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.418000	0.80167	2.651000	0.90000	0.467000	0.42956	CGC		0.632	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		7	61	0	0	0	1	0	7	61				
CD300E	342510	broad.mit.edu	37	17	72613294	72613294	+	Silent	SNP	G	G	A	rs77873791	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:72613294G>A	ENST00000328630.3	-	2	391	c.351C>T	c.(349-351)cgC>cgT	p.R117R	CD300E_ENST00000426295.2_Silent_p.R158R|CD300E_ENST00000392619.1_Silent_p.R144R			Q496F6	CLM2_HUMAN	CD300e molecule	117	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCGAGGGATCGCGTGACCATG	0.537													G|||	3	0.000599042	0.0	0.0	5008	,	,		21766	0.003		0.0	False		,,,				2504	0.0					ENST00000392619.1																			0				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(430-432)cgC>cgT		CD300e molecule		G		1,4405	2.1+/-5.4	0,1,2202	164.0	137.0	146.0		351	-3.3	0.0	17	dbSNP_132	146	0,8600		0,0,4300	no	coding-synonymous	CD300E	NM_181449.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		117/206	72613294	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72613294G>A	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.351C>T	17.37:g.72613294G>A						CD300E_ENST00000426295.2_Silent_p.R158R|CD300E_ENST00000328630.3_Silent_p.R117R	p.R144R	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN			2	467	-			117					B4DNS1|Q7Z7I3	Silent	SNP	ENST00000328630.3	37	c.432C>T	CCDS11702.1																																																																																				0.537	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		5	102	0	0	0	1	0	5	102				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	31	0	0	0	1	0	3	31				
ATP1A4	480	broad.mit.edu	37	1	160136482	160136482	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:160136482C>T	ENST00000368081.4	+	8	1683	c.1212C>T	c.(1210-1212)acC>acT	p.T404T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	404					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGATATGACCGTGTATGAGG	0.562																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(1210-1212)acC>acT		ATPase, Na+/K+ transporting, alpha 4 polypeptide							119.0	93.0	101.0					1																	160136482		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160136482C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1212C>T	1.37:g.160136482C>T							p.T404T	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1683	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		404					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.1212C>T	CCDS1197.1																																																																																				0.562	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		7	139	0	0	0	1	0	7	139				
ICA1	3382	broad.mit.edu	37	7	8167703	8167703	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:8167703C>T	ENST00000402384.3	-	13	1396	c.1130G>A	c.(1129-1131)aGt>aAt	p.S377N	ICA1_ENST00000406470.2_Missense_Mutation_p.S377N|ICA1_ENST00000401396.1_Missense_Mutation_p.S365N|ICA1_ENST00000422063.2_Missense_Mutation_p.S406N|ICA1_ENST00000265577.7_Missense_Mutation_p.S376N|ICA1_ENST00000396675.3_Missense_Mutation_p.S377N			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	377					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GAAGATCTCACTCAACAGCAG	0.542																																						ENST00000402384.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(1129-1131)aGt>aAt		islet cell autoantigen 1, 69kDa							146.0	140.0	142.0					7																	8167703		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8167703C>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1130G>A	7.37:g.8167703C>T	ENSP00000385570:p.Ser377Asn					ICA1_ENST00000265577.7_Missense_Mutation_p.S376N|ICA1_ENST00000422063.2_Missense_Mutation_p.S406N|ICA1_ENST00000406470.2_Missense_Mutation_p.S377N|ICA1_ENST00000396675.3_Missense_Mutation_p.S377N|ICA1_ENST00000401396.1_Missense_Mutation_p.S365N	p.S377N			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	13	1396	-		Ovarian(82;0.0612)	377					A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.1130G>A	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	c	1.557	-0.537679	0.04082	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	5.37	-3.02	0.05446	Islet cell autoantigen Ica1, C-terminal (1);	0.589219	0.19014	N	0.124991	T	0.10423	0.0255	N	0.02916	-0.46	0.09310	N	0.999992	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.001	T	0.35025	-0.9805	9	0.02654	T	1	-0.1246	8.9327	0.35680	0.0:0.2689:0.1163:0.6147	.	406;376;377;365	B3FTQ2;Q96HG3;Q05084;E9PDL4	.;.;ICA69_HUMAN;.	N	377;377;376;377;365;406	.	ENSP00000265577:S376N	S	-	2	0	ICA1	8134228	0.471000	0.25862	0.517000	0.27799	0.875000	0.50365	-0.210000	0.09345	-0.521000	0.06426	-0.897000	0.02905	AGT		0.542	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		5	221	0	0	0	1	0	5	221				
IGHG3	3502	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:106237582C>T	ENST00000390551.2	-	0	160							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GTAGGACAGCCGGGAAGGTGT	0.637																																						ENST00000390551.2																			0																				44.0	41.0	42.0					14																	106237582		1903	4068	5971			0							g.chr14:106237582C>T	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237582C>T														0	160	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		4	80	0	0	0	1	0	4	80				
HMCN1	83872	broad.mit.edu	37	1	186092329	186092329	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:186092329C>G	ENST00000271588.4	+	81	12705	c.12476C>G	c.(12475-12477)aCa>aGa	p.T4159R	HMCN1_ENST00000367492.2_Missense_Mutation_p.T4159R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4159	Ig-like C2-type 40.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAAGCAGCACAAGCACCAAG	0.493																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(12475-12477)aCa>aGa		hemicentin 1							55.0	40.0	45.0					1																	186092329		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186092329C>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12476C>G	1.37:g.186092329C>G	ENSP00000271588:p.Thr4159Arg					HMCN1_ENST00000367492.2_Missense_Mutation_p.T4159R	p.T4159R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			81	12705	+			4159			Ig-like C2-type 40.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12476C>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	1.366	-0.587343	0.03799	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67865	-0.29;-0.29	5.85	-1.05	0.10036	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.995834	0.08154	N	0.989631	T	0.42921	0.1224	N	0.25825	0.765	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.19614	-1.0300	10	0.10636	T	0.68	.	0.5572	0.00673	0.2352:0.2787:0.2571:0.2289	.	4159	Q96RW7	HMCN1_HUMAN	R	4159	ENSP00000271588:T4159R;ENSP00000356462:T4159R	ENSP00000271588:T4159R	T	+	2	0	HMCN1	184358952	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	0.198000	0.17217	-0.496000	0.06650	0.655000	0.94253	ACA		0.493	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		7	25	0	0	0	1	0	7	25				
HLA-F	3134	broad.mit.edu	37	6	29692052	29692052	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:29692052C>G	ENST00000376861.1	+	4	821	c.437C>G	c.(436-438)tCc>tGc	p.S146C	HLA-F_ENST00000440587.2_Missense_Mutation_p.S28C|HLA-F_ENST00000259951.7_Missense_Mutation_p.S146C|HLA-F_ENST00000434407.2_Missense_Mutation_p.S146C|HLA-F_ENST00000334668.4_Missense_Mutation_p.S146C			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	146	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GATTACATCTCCCTGAACGAG	0.622																																						ENST00000440587.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(82-84)tCc>tGc		major histocompatibility complex, class I, F							103.0	102.0	102.0					6																	29692052		1510	2709	4219	SO:0001583	missense	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29692052C>G	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.437C>G	6.37:g.29692052C>G	ENSP00000366057:p.Ser146Cys					HLA-F_ENST00000434407.2_Missense_Mutation_p.S146C|HLA-F_ENST00000334668.4_Missense_Mutation_p.S146C|HLA-F_ENST00000259951.7_Missense_Mutation_p.S146C|HLA-F_ENST00000376861.1_Missense_Mutation_p.S146C	p.S28C			P30511	HLAF_HUMAN			3	442	+			146			Alpha-1.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.83C>G	CCDS43438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.62|17.62	3.434512|3.434512	0.62955|0.62955	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000429294|ENST00000376861;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000440587;ENST00000434407	.|T;T;T;T;T	.|0.00014	.|9.22;9.22;9.22;9.22;9.22	1.63|1.63	0.694|0.694	0.18062|0.18062	.|MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.474550	.|0.14692	.|U	.|0.304087	T|T	0.00178|0.00178	0.0005|0.0005	H|H	0.96175|0.96175	3.78|3.78	0.20975|0.20975	N|N	0.999815|0.999815	.|D;B;P;P	.|0.64830	.|0.994;0.11;0.902;0.752	.|D;B;B;P	.|0.66196	.|0.942;0.096;0.418;0.642	T|T	0.34576|0.34576	-0.9823|-0.9823	5|10	.|0.87932	.|D	.|0	.|.	4.091|4.091	0.09970|0.09970	0.0:0.7562:0.0:0.2438|0.0:0.7562:0.0:0.2438	.|.	.|146;146;146;146	.|A8MVU7;P30511;P30511-3;P30511-2	.|.;HLAF_HUMAN;.;.	A|C	25|146;123;146;146;28;146	.|ENSP00000366057:S146C;ENSP00000334263:S146C;ENSP00000259951:S146C;ENSP00000404130:S28C;ENSP00000397376:S146C	.|ENSP00000259951:S146C	P|S	+|+	1|2	0|0	HLA-F|HLA-F	29800031|29800031	0.082000|0.082000	0.21442|0.21442	0.886000|0.886000	0.34754|0.34754	0.462000|0.462000	0.32619|0.32619	0.265000|0.265000	0.18515|0.18515	0.013000|0.013000	0.14918|0.14918	0.436000|0.436000	0.28706|0.28706	CCC|TCC		0.622	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		8	178	0	0	0	1	0	8	178				
PCDHGA1	56114	broad.mit.edu	37	5	140710720	140710720	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:140710720G>T	ENST00000517417.1	+	1	469	c.469G>T	c.(469-471)Ggg>Tgg	p.G157W	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G157W|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	157	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCTTTTGGGCAAGACCT	0.458																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(469-471)Ggg>Tgg									111.0	117.0	115.0					5																	140710720		2203	4300	6503	SO:0001583	missense	0							g.chr5:140710720G>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.469G>T	5.37:g.140710720G>T	ENSP00000431083:p.Gly157Trp					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G157W	p.G157W	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	469	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.469G>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462276	0.43736	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.51574	0.7;0.7	4.2	3.33	0.38152	Cadherin (4);Cadherin-like (1);	0.282296	0.24495	N	0.038032	T	0.57607	0.2065	L	0.43152	1.355	0.35033	D	0.758985	D;D	0.67145	0.995;0.996	D;D	0.69654	0.941;0.965	T	0.69296	-0.5182	10	0.87932	D	0	.	11.95	0.52950	0.0859:0.0:0.9141:0.0	.	157;157	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	W	157	ENSP00000431083:G157W;ENSP00000367345:G157W	ENSP00000367345:G157W	G	+	1	0	PCDHGA1	140690904	1.000000	0.71417	0.996000	0.52242	0.455000	0.32408	6.495000	0.73665	1.134000	0.42165	0.655000	0.94253	GGG		0.458	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		23	134	1	0	1.55795e-14	1	1.70632e-14	23	134				
TINAG	27283	broad.mit.edu	37	6	54173456	54173456	+	Silent	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:54173456T>C	ENST00000259782.4	+	1	204	c.108T>C	c.(106-108)acT>acC	p.T36T	TINAG_ENST00000370869.3_Silent_p.T32T|TINAG_ENST00000370864.3_Silent_p.T18T|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	36					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTTATTTCACTAGGAATCACA	0.393																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(106-108)acT>acC		tubulointerstitial nephritis antigen							120.0	113.0	115.0					6																	54173456		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54173456T>C	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.108T>C	6.37:g.54173456T>C						TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Silent_p.T32T|TINAG_ENST00000370864.3_Silent_p.T18T	p.T36T	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		1	204	+	Lung NSC(77;0.0518)		36					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.108T>C	CCDS4955.1																																																																																				0.393	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		14	107	0	0	0	1	0	14	107				
CHD4	1108	broad.mit.edu	37	12	6701875	6701875	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:6701875G>A	ENST00000357008.2	-	18	2924	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	CHD4_ENST00000544040.1_Missense_Mutation_p.P914S|CHD4_ENST00000544484.1_Missense_Mutation_p.P918S|CHD4_ENST00000309577.6_Missense_Mutation_p.P921S	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	921	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						AACCTCTCGGGGGTGAGAAAG	0.433																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2761-2763)Ccc>Tcc		chromodomain helicase DNA binding protein 4							121.0	120.0	120.0					12																	6701875		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6701875G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2761C>T	12.37:g.6701875G>A	ENSP00000349508:p.Pro921Ser					CHD4_ENST00000544040.1_Missense_Mutation_p.P914S|CHD4_ENST00000544484.1_Missense_Mutation_p.P918S|CHD4_ENST00000357008.2_Missense_Mutation_p.P921S	p.P921S			Q14839	CHD4_HUMAN			18	2924	-			921			Helicase ATP-binding.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2761C>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063166	0.76187	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.66	5.66	0.87406	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	H	0.94847	3.59	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.376	D;D;B	0.91635	0.999;0.999;0.104	D	0.97996	1.0357	10	0.44086	T	0.13	-4.2848	19.7589	0.96306	0.0:0.0:1.0:0.0	.	921;921;914	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	S	918;914;921;921;895	ENSP00000440392:P918S;ENSP00000440542:P914S;ENSP00000312419:P921S;ENSP00000349508:P921S	ENSP00000312419:P921S	P	-	1	0	CHD4	6572136	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.871000	0.87180	2.662000	0.90505	0.557000	0.71058	CCC		0.433	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		9	84	0	0	0	1	0	9	84				
KIF20B	9585	broad.mit.edu	37	10	91503566	91503566	+	Splice_Site	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr10:91503566T>C	ENST00000371728.3	+	22	3982	c.3917T>C	c.(3916-3918)gTa>gCa	p.V1306A	KIF20B_ENST00000394289.2_Splice_Site_p.V1306A|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Splice_Site_p.V1266A|KIF20B_ENST00000416354.1_Splice_Site_p.V1336A	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1306					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATTTTGTAGGTATCTGTAATG	0.284																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.e22-1		kinesin family member 20B							46.0	53.0	51.0					10																	91503566		2197	4295	6492	SO:0001630	splice_region_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91503566T>C	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3916-1T>C	10.37:g.91503566T>C						KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Splice_Site_p.V1266_splice|KIF20B_ENST00000394289.2_Splice_Site_p.V1306_splice|KIF20B_ENST00000371728.3_Splice_Site_p.V1306_splice	p.V1336_splice			Q96Q89	KI20B_HUMAN			22	4079	+			1306					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Splice_Site	SNP	ENST00000371728.3	37	c.4005_splice		.	.	.	.	.	.	.	.	.	.	T	14.96	2.690774	0.48097	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.75367	-0.83;-0.86;-0.93;-0.85	5.36	5.36	0.76844	.	0.299263	0.23953	N	0.042926	T	0.75774	0.3895	L	0.59436	1.845	0.41084	D	0.985547	P;P	0.51791	0.612;0.948	B;P	0.47645	0.185;0.553	T	0.76683	-0.2869	10	0.39692	T	0.17	-8.2241	15.3526	0.74402	0.0:0.0:0.0:1.0	.	1306;1266	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	A	1266;1336;1306;1306	ENSP00000260753:V1266A;ENSP00000411545:V1336A;ENSP00000377830:V1306A;ENSP00000360793:V1306A	ENSP00000260753:V1266A	V	+	2	0	KIF20B	91493546	1.000000	0.71417	0.998000	0.56505	0.554000	0.35429	6.140000	0.71738	2.025000	0.59659	0.377000	0.23210	GTA		0.284	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	Missense_Mutation	3	38	0	0	0	1	0	3	38				
NCOR2	9612	broad.mit.edu	37	12	124824906	124824906	+	Missense_Mutation	SNP	G	G	A	rs375229118		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:124824906G>A	ENST00000405201.1	-	36	5422	c.5422C>T	c.(5422-5424)Cgg>Tgg	p.R1808W	NCOR2_ENST00000397355.1_Missense_Mutation_p.R1799W|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1798W|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1798W|NCOR2_ENST00000356219.3_Missense_Mutation_p.R1815W|NCOR2_ENST00000404121.2_Missense_Mutation_p.R1369W			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1816					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCCGCTCCCGATCCCGGTCC	0.647																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5443-5445)Cgg>Tgg		nuclear receptor corepressor 2		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4219		0,1,2109	64.0	76.0	72.0		5392,5392,5422	1.4	0.2	12		72	1,8469		0,1,4234	no	missense,missense,missense	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	101,101,101	0,2,6343	AA,AG,GG		0.0118,0.0237,0.0158	probably-damaging,probably-damaging,probably-damaging	1798/2459,1798/2505,1808/2515	124824906	2,12688	2110	4235	6345	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124824906G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5422C>T	12.37:g.124824906G>A	ENSP00000384018:p.Arg1808Trp					NCOR2_ENST00000429285.2_Missense_Mutation_p.R1798W|NCOR2_ENST00000405201.1_Missense_Mutation_p.R1808W|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1798W|NCOR2_ENST00000404121.2_Missense_Mutation_p.R1369W|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1799W	p.R1815W	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	37	5598	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1816					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.5443C>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.591|3.591	-0.083537|-0.083537	0.07141|0.07141	2.37E-4|2.37E-4	1.18E-4|1.18E-4	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285|ENST00000440187;ENST00000453428	T;T;T;T;T;T|.	0.57107|.	0.42;0.42;0.42;0.42;0.42;0.42|.	1.44|1.44	1.44|1.44	0.22558|0.22558	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47637|0.47637	0.1456|0.1456	M|M	0.64404|0.64404	1.975|1.975	0.30479|0.30479	N|N	0.772575|0.772575	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.74674|.	0.974;0.965;0.984|.	T|T	0.49744|0.49744	-0.8907|-0.8907	10|5	0.87932|.	D|.	0|.	-6.8937|-6.8937	5.3526|5.3526	0.16043|0.16043	0.0:0.0:0.513:0.487|0.0:0.0:0.513:0.487	.|.	1798;1799;1808|.	C9J0Q5;C9J239;C9JFD3|.	.;.;.|.	W|L	1808;1798;1815;1799;1807;1369;1798|42;137	ENSP00000384018:R1808W;ENSP00000384202:R1798W;ENSP00000348551:R1815W;ENSP00000380513:R1799W;ENSP00000385618:R1369W;ENSP00000400281:R1798W|.	ENSP00000348551:R1815W|.	R|S	-|-	1|2	2|0	NCOR2|NCOR2	123390859|123390859	0.993000|0.993000	0.37304|0.37304	0.218000|0.218000	0.23776|0.23776	0.038000|0.038000	0.13279|0.13279	1.922000|1.922000	0.40045|0.40045	0.562000|0.562000	0.29204|0.29204	0.185000|0.185000	0.17295|0.17295	CGG|TCG		0.647	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		25	43	0	0	0	1	0	25	43				
NELL1	4745	broad.mit.edu	37	11	20907004	20907004	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:20907004T>C	ENST00000357134.5	+	5	673	c.521T>C	c.(520-522)gTg>gCg	p.V174A	NELL1_ENST00000325319.5_Missense_Mutation_p.V117A|NELL1_ENST00000532434.1_Missense_Mutation_p.V174A|NELL1_ENST00000298925.5_Missense_Mutation_p.V202A	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	174	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TATGAGCGTGTGATAGACCCT	0.433																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(604-606)gTg>gCg		NEL-like 1 (chicken)							130.0	124.0	126.0					11																	20907004		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20907004T>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.521T>C	11.37:g.20907004T>C	ENSP00000349654:p.Val174Ala					NELL1_ENST00000325319.5_Missense_Mutation_p.V117A|NELL1_ENST00000532434.1_Missense_Mutation_p.V174A|NELL1_ENST00000357134.5_Missense_Mutation_p.V174A	p.V202A			Q92832	NELL1_HUMAN			6	758	+			174			TSP N-terminal.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.605T>C	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396481	0.83011	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.80738	4.46;4.46;-1.41;4.46	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.068640	0.56097	D	0.000026	D	0.87589	0.6215	L	0.58583	1.82	0.42305	D	0.992191	D;P;P;D	0.61697	0.99;0.951;0.942;0.98	D;P;P;P	0.73380	0.98;0.76;0.72;0.891	D	0.89058	0.3460	10	0.87932	D	0	-13.2529	15.2875	0.73838	0.0:0.0:0.0:1.0	.	117;202;174;174	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	A	202;174;117;174	ENSP00000298925:V202A;ENSP00000349654:V174A;ENSP00000317837:V117A;ENSP00000437170:V174A	ENSP00000298925:V202A	V	+	2	0	NELL1	20863580	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.354000	0.73036	2.082000	0.62665	0.533000	0.62120	GTG		0.433	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		20	32	0	0	0	1	0	20	32				
PTCH2	8643	broad.mit.edu	37	1	45291949	45291949	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:45291949G>A	ENST00000372192.3	-	19	3217	c.3087C>T	c.(3085-3087)ggC>ggT	p.G1029G	PTCH2_ENST00000447098.2_Silent_p.G1029G	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1029					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGAACTCAACGCCAATGCCTA	0.542									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3085-3087)ggC>ggT		patched 2							103.0	79.0	87.0					1																	45291949		2203	4300	6503	SO:0001819	synonymous_variant	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45291949G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3087C>T	1.37:g.45291949G>A						PTCH2_ENST00000372192.3_Silent_p.G1029G	p.G1029G	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			19	3098	-	Acute lymphoblastic leukemia(166;0.155)		1029					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	c.3087C>T	CCDS516.1																																																																																				0.542	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		20	20	0	0	0	1	0	20	20				
IRF8	3394	broad.mit.edu	37	16	85952327	85952327	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:85952327C>T	ENST00000268638.5	+	7	1328	c.906C>T	c.(904-906)aaC>aaT	p.N302N	IRF8_ENST00000562492.1_Silent_p.N98N	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	302					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCAGCGGCAACGCCGTGGTGT	0.657																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(904-906)aaC>aaT		interferon regulatory factor 8							32.0	34.0	34.0					16																	85952327		2198	4300	6498	SO:0001819	synonymous_variant	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85952327C>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.906C>T	16.37:g.85952327C>T						IRF8_ENST00000562492.1_Silent_p.N98N	p.N302N	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			7	1328	+		Prostate(104;0.0771)	302					A0AV82	Silent	SNP	ENST00000268638.5	37	c.906C>T	CCDS10956.1																																																																																				0.657	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		8	45	0	0	0	1	0	8	45				
MC5R	4161	broad.mit.edu	37	18	13826500	13826500	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:13826500G>A	ENST00000324750.3	+	1	958	c.736G>A	c.(736-738)Gtg>Atg	p.V246M	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	246					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCTGCTGGGCGTGTTTACCGT	0.597																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(736-738)Gtg>Atg		melanocortin 5 receptor							221.0	174.0	190.0					18																	13826500		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826500G>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.736G>A	18.37:g.13826500G>A	ENSP00000318077:p.Val246Met						p.V246M	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	958	+			246					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.736G>A	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393065	0.25118	.	.	ENSG00000176136	ENST00000324750	T	0.75821	-0.97	4.88	-0.343	0.12632	GPCR, rhodopsin-like superfamily (1);	0.232669	0.42294	D	0.000726	T	0.81517	0.4839	M	0.85542	2.76	0.09310	N	1	D	0.63880	0.993	P	0.57244	0.816	T	0.74355	-0.3692	10	0.87932	D	0	.	9.2437	0.37511	0.7003:0.0:0.2997:0.0	.	246	P33032	MC5R_HUMAN	M	246	ENSP00000318077:V246M	ENSP00000318077:V246M	V	+	1	0	MC5R	13816500	0.591000	0.26824	0.003000	0.11579	0.023000	0.10783	1.266000	0.33039	-0.153000	0.11137	0.305000	0.20034	GTG		0.597	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		9	169	0	0	0	1	0	9	169				
ZBTB45	84878	broad.mit.edu	37	19	59028371	59028371	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:59028371C>T	ENST00000594051.1	-	2	1150	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	ZBTB45_ENST00000600990.1_Missense_Mutation_p.E224K|ZBTB45_ENST00000354590.3_Missense_Mutation_p.E224K			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCGCCACCTTCGCCATCCTCG	0.662											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(670-672)Gaa>Aaa		zinc finger and BTB domain containing 45							191.0	198.0	195.0					19																	59028371		2203	4298	6501	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028371C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.670G>A	19.37:g.59028371C>T	ENSP00000469089:p.Glu224Lys		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000354590.3_Missense_Mutation_p.E224K|ZBTB45_ENST00000600990.1_Missense_Mutation_p.E224K	p.E224K			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	1150	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	224						Missense_Mutation	SNP	ENST00000594051.1	37	c.670G>A	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	c	18.32	3.598688	0.66332	.	.	ENSG00000119574	ENST00000354590	T	0.09073	3.02	3.35	3.35	0.38373	.	0.890646	0.09342	U	0.815249	T	0.05777	0.0151	N	0.14661	0.345	0.27667	N	0.946883	B	0.25955	0.138	B	0.16722	0.016	T	0.17837	-1.0356	10	0.39692	T	0.17	.	10.4797	0.44687	0.0:1.0:0.0:0.0	.	224	Q96K62	ZBT45_HUMAN	K	224	ENSP00000346603:E224K	ENSP00000346603:E224K	E	-	1	0	ZBTB45	63720183	0.000000	0.05858	0.597000	0.28824	0.590000	0.36582	0.425000	0.21346	2.185000	0.69588	0.467000	0.42956	GAA		0.662	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		53	332	0	0	0	1	0	53	332				
EPHA5	2044	broad.mit.edu	37	4	66361141	66361141	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr4:66361141C>A	ENST00000273854.3	-	4	1631	c.1031G>T	c.(1030-1032)aGg>aTg	p.R344M	EPHA5_ENST00000511294.1_Missense_Mutation_p.R344M|EPHA5_ENST00000354839.4_Missense_Mutation_p.R344M|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	344	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGACTCTCTCCTGAAATAATC	0.463										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1030-1032)aGg>aTg		EPH receptor A5							173.0	168.0	170.0					4																	66361141		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66361141C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1031G>T	4.37:g.66361141C>A	ENSP00000273854:p.Arg344Met	TSP Lung(17;0.13)				EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.R344M|EPHA5_ENST00000354839.4_Missense_Mutation_p.R344M	p.R344M	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			4	1631	-			344			Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1031G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118739	0.77323	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;D	0.97480	1.57;1.57;-4.4	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000011	D	0.98767	0.9585	M	0.90145	3.09	0.45930	D	0.998762	D;D;D;D	0.76494	0.996;0.999;0.998;0.998	D;D;D;P	0.70227	0.927;0.968;0.967;0.885	D	0.99331	1.0909	10	0.87932	D	0	.	20.1504	0.98084	0.0:1.0:0.0:0.0	.	344;344;344;344	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	M	344	ENSP00000273854:R344M;ENSP00000346899:R344M;ENSP00000427638:R344M	ENSP00000273854:R344M	R	-	2	0	EPHA5	66043736	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.475000	0.60210	2.770000	0.95276	0.460000	0.39030	AGG		0.463	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		15	140	1	0	5.3912e-06	1	5.72297e-06	15	140				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	256	0	0	0	1	0	5	256				
OR10J1	26476	broad.mit.edu	37	1	159409585	159409586	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:159409585_159409586delAA	ENST00000423932.3	+	1	74_75	c.37_38delAA	c.(37-39)aaafs	p.K13fs	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	13					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CCAATCCATGAAAAGAGAGAAC	0.386																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(37-39)afs		olfactory receptor, family 10, subfamily J, member 1																																				SO:0001589	frameshift_variant	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409585_159409586delAA	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.37_38delAA	1.37:g.159409587_159409588delAA	ENSP00000399078:p.Lys13fs					RP11-550P17.5_ENST00000431862.1_RNA	p.K13fs	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	74_75	+	all_hematologic(112;0.0429)		13					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Frame_Shift_Del	DEL	ENST00000423932.3	37	c.37_38delAA	CCDS1185.1																																																																																				0.386	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		13	85						13	85	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			3	4						3	4	---	---	---	---
KCTD19	146212	broad.mit.edu	37	16	67327780	67327781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:67327780_67327781insG	ENST00000304372.5	-	12	1939_1940	c.1884_1885insC	c.(1882-1887)cccgccfs	p.A629fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	629					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATGGGAGTGGCGGGAGGGTCTT	0.54																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(1882-1887)ccccacfs		potassium channel tetramerization domain containing 19																																				SO:0001589	frameshift_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327780_67327781insG	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1885dupC	16.37:g.67327783_67327783dupG	ENSP00000305702:p.Ala629fs						p.H629fs	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	1939_1940	-		Ovarian(137;0.192)	629					B4DZ49|Q8N804	Frame_Shift_Ins	INS	ENST00000304372.5	37	c.1884_1885insC	CCDS42179.1																																																																																				0.540	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		7	334						7	334	---	---	---	---
GGNBP2	79893	broad.mit.edu	37	17	34901690	34901691	+	Intron	INS	-	-	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:34901690_34901691insC	ENST00000304718.4	+	2	409				MYO19_ENST00000590081.1_5'Flank|GGNBP2_ENST00000485685.2_Frame_Shift_Ins_p.P40fs	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gccgggctgggcccgccgcTCC	0.678																																						ENST00000485685.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(115-120)ggccgcfs		gametogenetin binding protein 2																																				SO:0001627	intron_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34901690_34901691insC	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.93+24->C	17.37:g.34901693_34901693dupC						GGNBP2_ENST00000304718.4_Intron	p.R40fs			Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	2	409_410	+		Breast(25;0.00957)|Ovarian(249;0.17)	0					B2RPK7|Q96T90|Q9GZR8|Q9H767	Frame_Shift_Ins	INS	ENST00000304718.4	37	c.117_118insC	CCDS11314.1																																																																																				0.678	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		5	6						5	6	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:42793215_42793218delCAGT	ENST00000575354.2	+	7	1147_1150	c.1107_1110delCAGT	c.(1105-1110)gacagtfs	p.DS369fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.DS1278fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3832-3837)gafs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793215_42793218delCAGT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1107_1110delCAGT	19.37:g.42793215_42793218delCAGT	ENSP00000458663:p.Asp369fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.DS369fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs	p.DS1278fs			Q96RK0	CIC_HUMAN			8	3902_3905	+		Prostate(69;0.00682)	369			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.3834_3837delCAGT	CCDS12601.1																																																																																				0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			69	61						69	61	---	---	---	---
LMTK3	114783	broad.mit.edu	37	19	48994758	48994758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:48994758delG	ENST00000600059.1	-	13	4358	c.4131delC	c.(4129-4131)cccfs	p.P1377fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P1406fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1377	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TGTCCCCCTCGGGGGGGGCCT	0.662																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(4129-4131)ccfs		lemur tyrosine kinase 3				53,17,3096		0,0,53,2,13,1515	6.0	7.0	7.0			3.5	1.0	19		6	130,31,7047		1,0,128,2,27,3446	no	codingComplex	LMTK3	NM_001080434.1		1,0,181,4,40,4961	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2336,2.211,2.2267			48994758	183,48,10143	1733	3887	5620	SO:0001589	frameshift_variant	114783							g.chr19:48994758delG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.4131delC	19.37:g.48994758delG	ENSP00000472020:p.Pro1377fs					LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P1406fs	p.P1377fs						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	13	4358	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Frame_Shift_Del	DEL	ENST00000600059.1	37	c.4131delC																																																																																					0.662	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		2	4						2	4	---	---	---	---
KCNJ15	3772	broad.mit.edu	37	21	39671497	39671497	+	Frame_Shift_Del	DEL	C	C	-	rs148451839	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr21:39671497delC	ENST00000328656.4	+	4	617	c.314delC	c.(313-315)accfs	p.T105fs	KCNJ15_ENST00000398938.2_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000398930.1_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000398932.1_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000398934.1_Frame_Shift_Del_p.T105fs	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	105					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	TCAAATCATACCCCCTGCATC	0.488																																						ENST00000398930.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						c.(313-315)acfs		potassium inwardly-rectifying channel, subfamily J, member 15							109.0	110.0	109.0					21																	39671497		2203	4300	6503	SO:0001589	frameshift_variant	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39671497delC	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.314delC	21.37:g.39671497delC	ENSP00000331698:p.Thr105fs					KCNJ15_ENST00000398932.1_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000398938.2_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000328656.3_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000398934.1_Frame_Shift_Del_p.T105fs	p.T105fs			Q99712	IRK15_HUMAN			4	668	+			105					D3DSH5|O00564|Q96L28|Q99446	Frame_Shift_Del	DEL	ENST00000328656.4	37	c.314delC	CCDS13656.1																																																																																				0.488	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		15	135						15	135	---	---	---	---
