#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
MBTPS1	8720	broad.mit.edu	37	16	84089675	84089675	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:84089675C>T	ENST00000343411.3	-	22	3392	c.2897G>A	c.(2896-2898)cGa>cAa	p.R966Q		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	966					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCGATTCGATCGAAAGTTGGG	0.483																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2896-2898)cGa>cAa		membrane-bound transcription factor peptidase, site 1							120.0	111.0	114.0					16																	84089675		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84089675C>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2897G>A	16.37:g.84089675C>T	ENSP00000344223:p.Arg966Gln						p.R966Q	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			22	3392	-			966					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.2897G>A	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774056	0.69992	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.32023	1.47	5.65	5.65	0.86999	.	0.281661	0.32055	N	0.006654	T	0.22003	0.0530	L	0.36672	1.1	0.58432	D	0.999999	P	0.39782	0.688	B	0.25884	0.064	T	0.06197	-1.0840	10	0.15499	T	0.54	-13.3242	19.7405	0.96228	0.0:1.0:0.0:0.0	.	966	Q14703	MBTP1_HUMAN	Q	966;411	ENSP00000344223:R966Q	ENSP00000344223:R966Q	R	-	2	0	MBTPS1	82647176	1.000000	0.71417	0.821000	0.32701	0.813000	0.45954	5.691000	0.68249	2.655000	0.90218	0.655000	0.94253	CGA		0.483	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		30	100	0	0	0	1	0	30	100				
CASP8	841	broad.mit.edu	37	2	202131238	202131238	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:202131238T>C	ENST00000432109.2	+	3	218	c.29T>C	c.(28-30)aTt>aCt	p.I10T	CASP8_ENST00000392258.3_Missense_Mutation_p.I10T|CASP8_ENST00000264275.5_Missense_Mutation_p.I10T|CASP8_ENST00000323492.7_Missense_Mutation_p.I10T|CASP8_ENST00000358485.4_Missense_Mutation_p.I69T|CASP8_ENST00000264274.9_Missense_Mutation_p.I10T|CASP8_ENST00000392259.2_Missense_Mutation_p.I10T|CASP8_ENST00000392266.3_Missense_Mutation_p.I10T	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	10	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.I10T(2)|p.I69T(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTTTATGATATTGGGGAACAA	0.408										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			3	Substitution - Missense(3)	p.I10T(2)|p.I69T(1)	urinary_tract(3)	breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(205-207)aTt>aCt		caspase 8, apoptosis-related cysteine peptidase							66.0	70.0	69.0					2																	202131238		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202131238T>C	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.29T>C	2.37:g.202131238T>C	ENSP00000412523:p.Ile10Thr	HNSCC(4;0.00038)				CASP8_ENST00000392266.3_Missense_Mutation_p.I10T|CASP8_ENST00000392259.2_Missense_Mutation_p.I10T|CASP8_ENST00000264274.9_Missense_Mutation_p.I10T|CASP8_ENST00000264275.5_Missense_Mutation_p.I10T|CASP8_ENST00000323492.7_Missense_Mutation_p.I10T|CASP8_ENST00000432109.2_Missense_Mutation_p.I10T|CASP8_ENST00000392258.3_Missense_Mutation_p.I10T	p.I69T	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			2	402	+			10			DED 1.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.206T>C	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.242139	0.39598	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.46	5.46	0.80206	DEATH-like (2);Death effector (3);	0.169500	0.52532	D	0.000075	D	0.95214	0.8448	H	0.94264	3.515	0.28067	N	0.932738	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.996;0.997;0.995;0.997;0.988;0.999;0.995;0.983;0.988	D	0.91468	0.5194	10	0.87932	D	0	.	14.7119	0.69238	0.0:0.0:0.0:1.0	.	10;10;10;10;69;10;10;10;10	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	T	10;10;10;10;10;10;10;10;10;69;10;10;10;10	ENSP00000376091:I10T;ENSP00000264274:I10T;ENSP00000376088:I10T;ENSP00000376094:I10T;ENSP00000412523:I10T;ENSP00000264275:I10T;ENSP00000396869:I10T;ENSP00000376087:I10T;ENSP00000388306:I10T;ENSP00000351273:I69T;ENSP00000397528:I10T;ENSP00000325722:I10T;ENSP00000390641:I10T	ENSP00000264274:I10T	I	+	2	0	CASP8	201839483	1.000000	0.71417	0.085000	0.20634	0.005000	0.04900	5.243000	0.65395	2.047000	0.60756	0.533000	0.62120	ATT		0.408	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		40	58	0	0	0	1	0	40	58				
AHCYL2	23382	broad.mit.edu	37	7	129046276	129046276	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:129046276G>A	ENST00000325006.3	+	10	1318	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	AHCYL2_ENST00000446544.2_Missense_Mutation_p.E421K|AHCYL2_ENST00000474594.1_Missense_Mutation_p.E319K|AHCYL2_ENST00000490911.1_Missense_Mutation_p.E319K|AHCYL2_ENST00000446212.1_Missense_Mutation_p.E320K|RNU7-16P_ENST00000516471.1_RNA|AHCYL2_ENST00000531335.2_Missense_Mutation_p.E341K	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	422					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GTATGTAACTGAAATTGACCC	0.522																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1264-1266)Gaa>Aaa		adenosylhomocysteinase-like 2							166.0	140.0	149.0					7																	129046276		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129046276G>A	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1264G>A	7.37:g.129046276G>A	ENSP00000315931:p.Glu422Lys					AHCYL2_ENST00000446544.2_Missense_Mutation_p.E421K|AHCYL2_ENST00000446212.1_Missense_Mutation_p.E320K|AHCYL2_ENST00000531335.2_Missense_Mutation_p.E341K|AHCYL2_ENST00000490911.1_Missense_Mutation_p.E319K|AHCYL2_ENST00000474594.1_Missense_Mutation_p.E319K	p.E422K	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN			10	1318	+			422					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.1264G>A	CCDS5812.1	.	.	.	.	.	.	.	.	.	.	G	36	5.817810	0.96982	.	.	ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.12;-2.09;-2.09;-2.09	6.16	6.16	0.99307	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.090428	0.85682	D	0.000000	D	0.95755	0.8619	H	0.95574	3.69	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.78314	0.979;0.979;0.991;0.979;0.985	D	0.96270	0.9198	10	0.87932	D	0	-25.7724	18.3537	0.90348	0.0:0.0:1.0:0.0	.	319;320;422;319;421	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.;.;SAHH3_HUMAN;.;.	K	422;421;341;319;320;319	ENSP00000315931:E422K;ENSP00000413639:E421K;ENSP00000431787:E341K;ENSP00000420459:E319K;ENSP00000405267:E320K;ENSP00000420801:E319K	ENSP00000315931:E422K	E	+	1	0	AHCYL2	128833512	1.000000	0.71417	0.976000	0.42696	0.991000	0.79684	9.499000	0.97975	2.937000	0.99478	0.650000	0.86243	GAA		0.522	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			21	117	0	0	0	1	0	21	117				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	73	0	0	0	1	0	4	73				
MYCBP2	23077	broad.mit.edu	37	13	77641807	77641807	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr13:77641807T>C	ENST00000544440.2	-	71	12267	c.12250A>G	c.(12250-12252)Aaa>Gaa	p.K4084E	MYCBP2_ENST00000357337.6_Missense_Mutation_p.K4084E|MYCBP2_ENST00000407578.2_Missense_Mutation_p.K4122E					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCTTTGGCTTTTAGCTGTACA	0.433																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(12364-12366)Aaa>Gaa		MYC binding protein 2, E3 ubiquitin protein ligase							261.0	240.0	247.0					13																	77641807		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77641807T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12250A>G	13.37:g.77641807T>C	ENSP00000444596:p.Lys4084Glu					MYCBP2_ENST00000544440.2_Missense_Mutation_p.K4084E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.K4084E	p.K4122E	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	71	12630	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4084						Missense_Mutation	SNP	ENST00000544440.2	37	c.12364A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.3|23.3	4.396523|4.396523	0.83011|0.83011	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.47177|.	0.85;0.85;0.85|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.73575|0.73575	0.3604|0.3604	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	P|.	0.52842|.	0.956|.	D|.	0.65010|.	0.931|.	T|T	0.72701|0.72701	-0.4214|-0.4214	10|6	0.87932|.	D|.	0|.	.|.	16.4116|16.4116	0.83717|0.83717	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	4084|.	O75592|.	MYCB2_HUMAN|.	E|R	4084;4122;4084|504	ENSP00000349892:K4084E;ENSP00000384288:K4122E;ENSP00000444596:K4084E|.	ENSP00000349892:K4084E|.	K|K	-|-	1|2	0|0	MYCBP2|MYCBP2	76539808|76539808	1.000000|1.000000	0.71417|0.71417	0.936000|0.936000	0.37596|0.37596	0.995000|0.995000	0.86356|0.86356	8.036000|8.036000	0.88901|0.88901	2.276000|2.276000	0.75962|0.75962	0.528000|0.528000	0.53228|0.53228	AAA|AAA		0.433	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		58	259	0	0	0	1	0	58	259				
SESN2	83667	broad.mit.edu	37	1	28599144	28599144	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:28599144C>T	ENST00000253063.3	+	5	911	c.590C>T	c.(589-591)gCt>gTt	p.A197V		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	197					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTCATTCAGGCTCTGGTCCTG	0.652																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(589-591)gCt>gTt		sestrin 2							142.0	119.0	127.0					1																	28599144		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28599144C>T	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.590C>T	1.37:g.28599144C>T	ENSP00000253063:p.Ala197Val						p.A197V	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	5	911	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	197					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.590C>T	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342034	0.95783	.	.	ENSG00000130766	ENST00000253063	T	0.42131	0.98	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.66901	-0.5806	10	0.49607	T	0.09	-24.5163	18.9052	0.92458	0.0:1.0:0.0:0.0	.	197	P58004	SESN2_HUMAN	V	197	ENSP00000253063:A197V	ENSP00000253063:A197V	A	+	2	0	SESN2	28471731	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	5.685000	0.68204	2.568000	0.86640	0.591000	0.81541	GCT		0.652	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			25	102	0	0	0	1	0	25	102				
SRRM4	84530	broad.mit.edu	37	12	119568502	119568502	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:119568502G>A	ENST00000267260.4	+	8	1022	c.634G>A	c.(634-636)Gag>Aag	p.E212K	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	212	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCGGTCCCCTGAGGAAGGGCA	0.647																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(634-636)Gag>Aag		serine/arginine repetitive matrix 4							17.0	21.0	20.0					12																	119568502		1885	4099	5984	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119568502G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.634G>A	12.37:g.119568502G>A	ENSP00000267260:p.Glu212Lys					SRRM4_ENST00000537597.1_3'UTR	p.E212K	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			8	1022	+			212			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.634G>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414652	0.83449	.	.	ENSG00000139767	ENST00000267260	T	0.25749	1.78	5.17	4.28	0.50868	.	0.221182	0.39341	N	0.001392	T	0.24353	0.0590	L	0.53249	1.67	0.37505	D	0.916926	B	0.23891	0.093	B	0.19666	0.026	T	0.09530	-1.0670	10	0.36615	T	0.2	-12.0754	11.0638	0.47964	0.086:0.0:0.914:0.0	.	212	A7MD48	SRRM4_HUMAN	K	212	ENSP00000267260:E212K	ENSP00000267260:E212K	E	+	1	0	SRRM4	118052885	1.000000	0.71417	0.948000	0.38648	0.926000	0.56050	4.181000	0.58303	1.186000	0.42985	0.448000	0.29417	GAG		0.647	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		11	16	0	0	0	1	0	11	16				
DCC	1630	broad.mit.edu	37	18	50683801	50683801	+	Missense_Mutation	SNP	G	G	A	rs138053380		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr18:50683801G>A	ENST00000442544.2	+	8	1953	c.1337G>A	c.(1336-1338)cGt>cAt	p.R446H	DCC_ENST00000412726.1_Missense_Mutation_p.R294H|DCC_ENST00000581580.1_Missense_Mutation_p.R101H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	446	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R446H(3)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGATTTGTCCGTCTCAGCTGG	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17947	0.0		0.0	False		,,,				2504	0.0					ENST00000442544.2																			3	Substitution - Missense(3)	p.R446H(3)	lung(2)|endometrium(1)	NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1336-1338)cGt>cAt		deleted in colorectal carcinoma		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	154.0	140.0	145.0		1337	5.4	1.0	18	dbSNP_134	145	0,8600		0,0,4300	no	missense	DCC	NM_005215.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	446/1448	50683801	1,13005	2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50683801G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1337G>A	18.37:g.50683801G>A	ENSP00000389140:p.Arg446His					DCC_ENST00000412726.1_Missense_Mutation_p.R294H|DCC_ENST00000581580.1_Missense_Mutation_p.R101H	p.R446H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	8	1953	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	446			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1337G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145814	0.57044	2.27E-4	0.0	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.57273	0.41;0.41	5.44	5.44	0.79542	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.69691	0.3139	L	0.57536	1.79	0.51482	D	0.999926	B;P;D	0.71674	0.393;0.717;0.998	B;B;D	0.71184	0.089;0.205;0.972	T	0.71431	-0.4595	10	0.66056	D	0.02	.	18.0448	0.89329	0.0:0.0:1.0:0.0	.	294;294;446	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	H	446;379;294	ENSP00000389140:R446H;ENSP00000397322:R294H	ENSP00000304146:R379H	R	+	2	0	DCC	48937799	1.000000	0.71417	0.999000	0.59377	0.787000	0.44495	8.879000	0.92398	2.567000	0.86603	0.561000	0.74099	CGT		0.517	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		26	124	0	0	0	1	0	26	124				
ALG12	79087	broad.mit.edu	37	22	50302947	50302947	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:50302947G>C	ENST00000330817.6	-	6	986	c.713C>G	c.(712-714)cCg>cGg	p.P238R		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	238					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)	p.P238L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CTTTCCTTCCGGCCAAGTGAG	0.502																																						ENST00000330817.5																			1	Substitution - Missense(1)	p.P238L(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(712-714)cCg>cGg		ALG12, alpha-1,6-mannosyltransferase							102.0	92.0	95.0					22																	50302947		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50302947G>C	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.713C>G	22.37:g.50302947G>C	ENSP00000333813:p.Pro238Arg						p.P238R	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	6	986	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	238					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.713C>G	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362020	0.82353	.	.	ENSG00000182858	ENST00000330817	T	0.65916	-0.18	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.85881	0.5800	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90198	0.4255	10	0.87932	D	0	-12.1807	18.8837	0.92367	0.0:0.0:1.0:0.0	.	238	Q9BV10	ALG12_HUMAN	R	238	ENSP00000333813:P238R	ENSP00000333813:P238R	P	-	2	0	ALG12	48688951	1.000000	0.71417	0.957000	0.39632	0.712000	0.41017	9.241000	0.95402	2.545000	0.85829	0.650000	0.86243	CCG		0.502	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		18	79	0	0	0	1	0	18	79				
CFAP70	118491	broad.mit.edu	37	10	75101306	75101306	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:75101306G>C	ENST00000310715.3	-	7	763	c.643C>G	c.(643-645)Ctg>Gtg	p.L215V	TTC18_ENST00000401621.2_Missense_Mutation_p.L215V|TTC18_ENST00000340329.3_Missense_Mutation_p.L215V|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.L215V	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		215						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCAAGCTTCAGAGTTCCATTC	0.403																																						ENST00000310715.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(643-645)Ctg>Gtg		tetratricopeptide repeat domain 18							69.0	72.0	71.0					10																	75101306		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75101306G>C																												ENST00000310715.3:c.643C>G	10.37:g.75101306G>C	ENSP00000310829:p.Leu215Val					TTC18_ENST00000394865.1_Missense_Mutation_p.L215V|TTC18_ENST00000340329.3_Missense_Mutation_p.L215V|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.L215V	p.L215V	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN			7	763	-	Prostate(51;0.0119)		215					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.643C>G	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832028	0.71258	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000394865	T;T;T;T	0.55413	1.3;1.3;0.52;0.88	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.73233	0.3561	M	0.75264	2.295	0.50467	D	0.999879	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.75900	-0.3154	10	0.87932	D	0	-24.4481	17.0613	0.86548	0.0:0.0:1.0:0.0	.	215;215	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	V	215	ENSP00000310829:L215V;ENSP00000384479:L215V;ENSP00000343650:L215V;ENSP00000378334:L215V	ENSP00000310829:L215V	L	-	1	2	TTC18	74771312	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.965000	0.56788	2.640000	0.89533	0.561000	0.74099	CTG		0.403	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				40	155	0	0	0	1	0	40	155				
FAM110C	642273	broad.mit.edu	37	2	45619	45619	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:45619G>A	ENST00000327669.4	-	1	766	c.767C>T	c.(766-768)tCc>tTc	p.S256F	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	256					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GCCGCTGCCGGAGGTGGCGAC	0.697																																						ENST00000327669.4																			0				central_nervous_system(1)|kidney(1)|lung(2)	4						c.(766-768)tCc>tTc		family with sequence similarity 110, member C							17.0	22.0	20.0					2																	45619		2108	4231	6339	SO:0001583	missense	642273					microtubule|microtubule organizing center|spindle pole		g.chr2:45619G>A	DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.767C>T	2.37:g.45619G>A	ENSP00000328347:p.Ser256Phe						p.S256F	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)	1	766	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)	256						Missense_Mutation	SNP	ENST00000327669.4	37	c.767C>T	CCDS42645.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919699	0.52653	.	.	ENSG00000184731	ENST00000327669	T	0.51071	0.72	4.64	3.76	0.43208	.	0.061903	0.64402	N	0.000003	T	0.58004	0.2092	M	0.83223	2.63	0.38384	D	0.945217	P	0.43314	0.803	P	0.47744	0.556	T	0.65187	-0.6229	10	0.52906	T	0.07	-9.8459	10.9984	0.47591	0.0943:0.0:0.9057:0.0	.	256	Q1W6H9	F110C_HUMAN	F	256	ENSP00000328347:S256F	ENSP00000328347:S256F	S	-	2	0	FAM110C	35619	0.995000	0.38212	0.952000	0.39060	0.033000	0.12548	4.540000	0.60664	1.066000	0.40716	-0.291000	0.09656	TCC		0.697	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710		10	28	0	0	0	1	0	10	28				
ZSWIM1	90204	broad.mit.edu	37	20	44511955	44511955	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr20:44511955G>A	ENST00000372523.1	+	2	819	c.724G>A	c.(724-726)Gct>Act	p.A242T	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.A242T	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	242						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				CATCTGGCTGGCTCACCGCTG	0.577																																						ENST00000372523.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(724-726)Gct>Act		zinc finger, SWIM-type containing 1							51.0	44.0	46.0					20																	44511955		2203	4300	6503	SO:0001583	missense	90204						zinc ion binding	g.chr20:44511955G>A	AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.724G>A	20.37:g.44511955G>A	ENSP00000361601:p.Ala242Thr					ZSWIM1_ENST00000372520.1_Missense_Mutation_p.A242T	p.A242T	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN			2	819	+		Myeloproliferative disorder(115;0.028)	242					Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	c.724G>A	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403085	0.62288	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.23950	1.88;1.88	5.26	5.26	0.73747	.	0.295679	0.24287	U	0.039858	T	0.17746	0.0426	L	0.29908	0.895	0.24021	N	0.996146	P	0.39480	0.675	B	0.37091	0.241	T	0.19128	-1.0315	10	0.59425	D	0.04	-11.3195	8.0139	0.30370	0.0756:0.0:0.6578:0.2666	.	242	Q9BR11	ZSWM1_HUMAN	T	242	ENSP00000361601:A242T;ENSP00000361598:A242T	ENSP00000361598:A242T	A	+	1	0	ZSWIM1	43945362	0.991000	0.36638	1.000000	0.80357	0.992000	0.81027	2.099000	0.41767	2.731000	0.93534	0.650000	0.86243	GCT		0.577	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603		4	62	0	0	0	1	0	4	62				
FSHR	2492	broad.mit.edu	37	2	49216159	49216159	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:49216159C>T	ENST00000406846.2	-	6	600	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.E161K|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Intron	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	161					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GAATTTCTTTCAATTGTGTGG	0.333									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(481-483)Gaa>Aaa		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						92.0	90.0	91.0					2																	49216159		2202	4300	6502	SO:0001583	missense	2492	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49216159C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.481G>A	2.37:g.49216159C>T	ENSP00000384708:p.Glu161Lys					FSHR_ENST00000346173.3_Missense_Mutation_p.E161K|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Intron	p.E161K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		6	600	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	161					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.481G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599292	0.46318	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000454032	D;D;D	0.83837	-1.77;-1.77;-1.77	4.96	3.92	0.45320	.	0.344610	0.31612	N	0.007346	T	0.79581	0.4470	M	0.75447	2.3	0.80722	D	1	B;B	0.28178	0.202;0.19	B;B	0.21151	0.033;0.031	T	0.75309	-0.3363	9	.	.	.	.	10.2624	0.43434	0.0:0.878:0.0:0.122	.	161;161	G5E967;P23945	.;FSHR_HUMAN	K	161	ENSP00000384708:E161K;ENSP00000333908:E161K;ENSP00000415504:E161K	.	E	-	1	0	FSHR	49069663	1.000000	0.71417	0.970000	0.41538	0.919000	0.55068	1.764000	0.38471	1.193000	0.43086	0.591000	0.81541	GAA		0.333	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			9	44	0	0	0	1	0	9	44				
DNAH8	1769	broad.mit.edu	37	6	38942235	38942235	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:38942235T>C	ENST00000359357.3	+	83	12367	c.12113T>C	c.(12112-12114)cTg>cCg	p.L4038P	DNAH8_ENST00000441566.1_Missense_Mutation_p.L4002P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4038	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAGACCTTCTGGACATCAGT	0.418																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(12112-12114)cTg>cCg		dynein, axonemal, heavy chain 8							96.0	87.0	90.0					6																	38942235		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38942235T>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12113T>C	6.37:g.38942235T>C	ENSP00000352312:p.Leu4038Pro					DNAH8_ENST00000441566.1_Missense_Mutation_p.L4002P	p.L4038P							83	12367	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.12113T>C		.	.	.	.	.	.	.	.	.	.	T	25.7	4.669095	0.88348	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.10860	2.83;2.83;2.83	5.84	5.84	0.93424	Dynein heavy chain (1);	0.000000	0.64402	D	0.000005	T	0.40719	0.1128	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.60752	-0.7201	10	0.87932	D	0	.	16.2167	0.82231	0.0:0.0:0.0:1.0	.	4002;4038	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	P	4243;4038;4002	ENSP00000333363:L4243P;ENSP00000352312:L4038P;ENSP00000402294:L4002P	ENSP00000333363:L4243P	L	+	2	0	DNAH8	39050213	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.928000	0.70088	2.231000	0.72958	0.533000	0.62120	CTG		0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		31	104	0	0	0	1	0	31	104				
NEBL	10529	broad.mit.edu	37	10	21098748	21098748	+	Silent	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:21098748G>C	ENST00000377122.4	-	25	2994	c.2598C>G	c.(2596-2598)ctC>ctG	p.L866L	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	866	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGAGCATATGGAGACTTCTAG	0.423																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2596-2598)ctC>ctG		nebulette							102.0	99.0	100.0					10																	21098748		2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21098748G>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2598C>G	10.37:g.21098748G>C						NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	p.L866L	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			25	2994	-			866			Linker.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	c.2598C>G	CCDS7134.1																																																																																				0.423	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		16	67	0	0	0	1	0	16	67				
FCGBP	8857	broad.mit.edu	37	19	40368706	40368706	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:40368706G>A	ENST00000221347.6	-	28	12649	c.12642C>T	c.(12640-12642)tgC>tgT	p.C4214C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4214	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCAGAGCCCGCACACTGCGC	0.607																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12640-12642)tgC>tgT		Fc fragment of IgG binding protein							236.0	238.0	237.0					19																	40368706		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40368706G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12642C>T	19.37:g.40368706G>A							p.C4214C	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12649	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4214			VWFD 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.12642C>T	CCDS12546.1																																																																																				0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	668	0	0	0	1	0	6	668				
HEPH	9843	broad.mit.edu	37	X	65474920	65474920	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:65474920C>T	ENST00000343002.2	+	15	3271	c.2607C>T	c.(2605-2607)ggC>ggT	p.G869G	HEPH_ENST00000374727.3_Silent_p.G872G|HEPH_ENST00000519389.1_Silent_p.G923G|HEPH_ENST00000336279.5_Silent_p.G602G|HEPH_ENST00000419594.1_Silent_p.G680G|HEPH_ENST00000441993.2_Silent_p.G872G			Q9BQS7	HEPH_HUMAN	hephaestin	869	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGAGGTCTGGCCCTGGGCCCA	0.493																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2767-2769)ggC>ggT		hephaestin							128.0	108.0	115.0					X																	65474920		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65474920C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2607C>T	X.37:g.65474920C>T						HEPH_ENST00000336279.5_Silent_p.G602G|HEPH_ENST00000419594.1_Silent_p.G680G|HEPH_ENST00000374727.3_Silent_p.G872G|HEPH_ENST00000343002.2_Silent_p.G869G|HEPH_ENST00000441993.2_Silent_p.G872G	p.G923G			Q9BQS7	HEPH_HUMAN			16	2948	+			869			Plastocyanin-like 6.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.2769C>T																																																																																					0.493	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		22	68	0	0	0	1	0	22	68				
ZNF394	84124	broad.mit.edu	37	7	99097278	99097278	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:99097278C>T	ENST00000337673.6	-	1	642	c.439G>A	c.(439-441)Gat>Aat	p.D147N	ZNF394_ENST00000426306.2_Missense_Mutation_p.D147N|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	147					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAGGTTCCATCGAGCGCTCGC	0.622																																					Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(439-441)Gat>Aat		zinc finger protein 394							79.0	87.0	84.0					7																	99097278		2202	4300	6502	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99097278C>T	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.439G>A	7.37:g.99097278C>T	ENSP00000337363:p.Asp147Asn					ZNF394_ENST00000394177.3_5'UTR|ZNF394_ENST00000426306.2_Missense_Mutation_p.D147N|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	p.D147N	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			1	642	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		147					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.439G>A	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813378	0.50527	.	.	ENSG00000160908	ENST00000337673;ENST00000426306	T;T	0.04360	3.64;3.64	3.98	3.98	0.46160	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.867907	0.09810	N	0.752957	T	0.11024	0.0269	M	0.75447	2.3	0.09310	N	1	D;P	0.54964	0.969;0.898	P;B	0.47162	0.54;0.413	T	0.19386	-1.0307	10	0.22706	T	0.39	.	11.8572	0.52444	0.0:1.0:0.0:0.0	.	147;147	Q05DA6;Q53GI3	.;ZN394_HUMAN	N	147	ENSP00000337363:D147N;ENSP00000409565:D147N	ENSP00000337363:D147N	D	-	1	0	ZNF394	98935214	.	.	0.005000	0.12908	0.225000	0.24961	.	.	2.515000	0.84797	0.561000	0.74099	GAT		0.622	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		26	137	0	0	0	1	0	26	137				
TMEM241	85019	broad.mit.edu	37	18	20964956	20964956	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr18:20964956C>G	ENST00000383233.3	-	5	407	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	TMEM241_ENST00000542162.1_Missense_Mutation_p.E119Q|TMEM241_ENST00000450466.2_5'UTR|TMEM241_ENST00000399707.1_Missense_Mutation_p.E93Q	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	119						integral component of membrane (GO:0016021)											TCGTTTACCTCTTTCTGAAAA	0.368																																						ENST00000383233.3																			0											c.(355-357)Gag>Cag		transmembrane protein 241							120.0	109.0	113.0					18																	20964956		2203	4300	6503	SO:0001583	missense	85019					integral to membrane		g.chr18:20964956C>G	BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"""chromosome 18 open reading frame 45"""	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.355G>C	18.37:g.20964956C>G	ENSP00000372720:p.Glu119Gln					TMEM241_ENST00000399707.1_Missense_Mutation_p.E93Q|TMEM241_ENST00000542162.1_Missense_Mutation_p.E119Q|TMEM241_ENST00000450466.2_5'UTR	p.E119Q	NM_032933.4	NP_116322.3	Q24JQ0	CR045_HUMAN			5	407	-			119					I0J130|Q6ZTS7|Q6ZW41	Missense_Mutation	SNP	ENST00000383233.3	37	c.355G>C	CCDS11876.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.64|11.64	1.700001|1.700001	0.30142|0.30142	.|.	.|.	ENSG00000134490|ENSG00000134490	ENST00000383233;ENST00000542162;ENST00000399707|ENST00000497608	T;T;T|.	0.79749|.	0.82;-1.3;0.82|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.105851|.	0.41396|.	D|.	0.000891|.	T|T	0.71341|0.71341	0.3328|0.3328	M|M	0.69823|0.69823	2.125|2.125	0.41958|0.41958	D|D	0.990695|0.990695	P|.	0.39352|.	0.669|.	B|.	0.34824|.	0.19|.	T|T	0.72070|0.72070	-0.4401|-0.4401	10|5	0.08837|.	T|.	0.75|.	-5.0161|-5.0161	12.6571|12.6571	0.56793|0.56793	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	119|.	Q24JQ0|.	CR045_HUMAN|.	Q|T	119;119;93|118	ENSP00000372720:E119Q;ENSP00000440152:E119Q;ENSP00000382615:E93Q|.	ENSP00000372720:E119Q|.	E|R	-|-	1|2	0|0	C18orf45|C18orf45	19218954|19218954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	3.856000|3.856000	0.55964|0.55964	2.350000|2.350000	0.79820|0.79820	0.491000|0.491000	0.48974|0.48974	GAG|AGA		0.368	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254702.3	NM_032933		18	66	0	0	0	1	0	18	66				
CYP3A4	1576	broad.mit.edu	37	7	99359861	99359861	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:99359861C>G	ENST00000336411.2	-	11	1239	c.1056G>C	c.(1054-1056)caG>caC	p.Q352H	CYP3A4_ENST00000354593.2_Missense_Mutation_p.Q202H	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	352					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	GATACTCCATCTGTAGCACAG	0.398																																						ENST00000354593.2																			0				breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(604-606)caG>caC		cytochrome P450, family 3, subfamily A, polypeptide 4	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						123.0	107.0	113.0					7																	99359861		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99359861C>G	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1056G>C	7.37:g.99359861C>G	ENSP00000337915:p.Gln352His					CYP3A4_ENST00000336411.2_Missense_Mutation_p.Q352H	p.Q202H			P08684	CP3A4_HUMAN			6	709	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		352					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.606G>C	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656239	0.29425	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.69306	-0.39;-0.39	4.35	3.46	0.39613	.	0.131490	0.56097	D	0.000032	T	0.73249	0.3563	M	0.71206	2.165	0.40084	D	0.976176	D;P;P;P;P	0.55605	0.972;0.944;0.938;0.938;0.938	P;P;P;P;P	0.58172	0.834;0.773;0.767;0.767;0.767	T	0.73398	-0.3995	10	0.59425	D	0.04	.	6.7833	0.23659	0.0:0.7809:0.0:0.2191	.	202;279;352;352;352	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	H	202;352	ENSP00000346607:Q202H;ENSP00000337915:Q352H	ENSP00000337915:Q352H	Q	-	3	2	CYP3A4	99197797	0.999000	0.42202	0.941000	0.38009	0.623000	0.37688	0.752000	0.26362	0.789000	0.33779	0.561000	0.74099	CAG		0.398	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			20	66	0	0	0	1	0	20	66				
ITGA2B	3674	broad.mit.edu	37	17	42452084	42452084	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:42452084G>C	ENST00000262407.5	-	28	2917	c.2886C>G	c.(2884-2886)aaC>aaG	p.N962K	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	962					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GGGAGGACACGTTGAACCATG	0.617																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2884-2886)aaC>aaG		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						65.0	68.0	67.0					17																	42452084		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42452084G>C		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2886C>G	17.37:g.42452084G>C	ENSP00000262407:p.Asn962Lys					ITGA2B_ENST00000353281.4_Intron	p.N962K	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	28	2917	-		Prostate(33;0.0181)	962					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.2886C>G	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	G	8.206	0.799239	0.16397	.	.	ENSG00000005961	ENST00000262407	T	0.59083	0.29	4.58	1.19	0.21007	.	0.000000	0.38381	N	0.001714	T	0.30978	0.0782	L	0.36672	1.1	0.80722	D	1	P	0.40794	0.729	B	0.31686	0.134	T	0.31052	-0.9957	10	0.07030	T	0.85	.	4.1879	0.10407	0.328:0.17:0.5019:0.0	.	962	P08514	ITA2B_HUMAN	K	962	ENSP00000262407:N962K	ENSP00000262407:N962K	N	-	3	2	ITGA2B	39807610	0.999000	0.42202	1.000000	0.80357	0.809000	0.45718	0.389000	0.20751	0.462000	0.27095	0.561000	0.74099	AAC		0.617	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			15	52	0	0	0	1	0	15	52				
ZBBX	79740	broad.mit.edu	37	3	167077760	167077760	+	Silent	SNP	C	C	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:167077760C>A	ENST00000392766.2	-	8	670	c.330G>T	c.(328-330)gtG>gtT	p.V110V	ZBBX_ENST00000307529.5_Silent_p.V110V|ZBBX_ENST00000392764.1_Silent_p.V81V|ZBBX_ENST00000392767.2_Silent_p.V110V|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Silent_p.V110V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	110						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGTTGGTTTCACTGGCTCTG	0.303																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(328-330)gtG>gtT		zinc finger, B-box domain containing							111.0	97.0	101.0					3																	167077760		1787	4062	5849	SO:0001819	synonymous_variant	79740					intracellular	zinc ion binding	g.chr3:167077760C>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.330G>T	3.37:g.167077760C>A						ZBBX_ENST00000455345.2_Silent_p.V110V|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Silent_p.V110V|ZBBX_ENST00000307529.5_Silent_p.V110V|ZBBX_ENST00000392764.1_Silent_p.V81V	p.V110V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			8	670	-			110					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	c.330G>T	CCDS3199.2																																																																																				0.303	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		11	39	1	0	1.58986e-06	1	1.61953e-06	11	39				
CWC25	54883	broad.mit.edu	37	17	36963199	36963199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:36963199G>A	ENST00000225428.5	-	7	1018	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	CWC25_ENST00000536127.1_Nonsense_Mutation_p.Q178*	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	241										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						AGAGGACCCTGAAGACCCTGG	0.507																																						ENST00000225428.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(721-723)Cag>Tag		CWC25 spliceosome-associated protein homolog (S. cerevisiae)							97.0	95.0	96.0					17																	36963199		1913	4130	6043	SO:0001587	stop_gained	54883							g.chr17:36963199G>A	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.721C>T	17.37:g.36963199G>A	ENSP00000225428:p.Gln241*					CWC25_ENST00000536127.1_Nonsense_Mutation_p.Q178*	p.Q241*	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN			7	1018	-			241					A0JLM3|Q68DK5	Nonsense_Mutation	SNP	ENST00000225428.5	37	c.721C>T	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623790	0.87460	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.27	3.19	0.36642	.	0.598981	0.16771	N	0.200193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	7.8944	0.29697	0.084:0.0:0.7573:0.1586	.	.	.	.	X	241;178	.	ENSP00000225428:Q241X	Q	-	1	0	CWC25	34216725	0.081000	0.21417	0.031000	0.17742	0.102000	0.19082	2.799000	0.47892	1.416000	0.47057	0.462000	0.41574	CAG		0.507	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		21	67	0	0	0	1	0	21	67				
KDM5B	10765	broad.mit.edu	37	1	202698923	202698923	+	Nonsense_Mutation	SNP	G	G	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:202698923G>T	ENST00000367265.3	-	26	5573	c.4409C>A	c.(4408-4410)tCa>tAa	p.S1470*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.S1506*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1470					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGATGTGTCTGAGGGCAGGGA	0.483																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4408-4410)tCa>tAa		lysine (K)-specific demethylase 5B							187.0	173.0	178.0					1																	202698923		2203	4300	6503	SO:0001587	stop_gained	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202698923G>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4409C>A	1.37:g.202698923G>T	ENSP00000356234:p.Ser1470*					KDM5B_ENST00000367264.2_Nonsense_Mutation_p.S1506*	p.S1470*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			26	5573	-			1470					O95811|Q15752|Q9Y3Q5	Nonsense_Mutation	SNP	ENST00000367265.3	37	c.4409C>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	42	9.732209	0.99249	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264	.	.	.	5.44	5.44	0.79542	.	0.066958	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2997	19.2668	0.93990	0.0:0.0:1.0:0.0	.	.	.	.	X	1470;1312;1506	.	ENSP00000356233:S1506X	S	-	2	0	KDM5B	200965546	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.681000	0.68175	2.544000	0.85801	0.650000	0.86243	TCA		0.483	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		56	164	1	0	2.84144e-21	1	3.06606e-21	56	164				
SARDH	1757	broad.mit.edu	37	9	136578218	136578218	+	Silent	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:136578218C>G	ENST00000371872.4	-	9	1436	c.1179G>C	c.(1177-1179)ctG>ctC	p.L393L	SARDH_ENST00000439388.1_Silent_p.L393L|SARDH_ENST00000422262.2_Silent_p.L225L	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	393					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCTCCCCCATCAGGGGCTTGT	0.612																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1177-1179)ctG>ctC		sarcosine dehydrogenase							41.0	43.0	42.0					9																	136578218		2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136578218C>G		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1179G>C	9.37:g.136578218C>G						SARDH_ENST00000422262.2_Silent_p.L225L|SARDH_ENST00000439388.1_Silent_p.L393L	p.L393L	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	9	1436	-			393					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.1179G>C	CCDS6978.1																																																																																				0.612	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			14	19	0	0	0	1	0	14	19				
POLR3GL	84265	broad.mit.edu	37	1	145457071	145457071	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:145457071C>A	ENST00000369314.1	-	7	596	c.490G>T	c.(490-492)Gag>Tag	p.E164*	POLR3GL_ENST00000369313.3_Nonsense_Mutation_p.E141*	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	164	Glu-rich.				gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					tcatcctcctctGAAGTTACT	0.443																																						ENST00000369314.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(490-492)Gag>Tag		polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like							119.0	106.0	110.0					1																	145457071		2203	4300	6503	SO:0001587	stop_gained	84265							g.chr1:145457071C>A	BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.490G>T	1.37:g.145457071C>A	ENSP00000358320:p.Glu164*					POLR3GL_ENST00000369313.3_Nonsense_Mutation_p.E141*	p.E164*	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN			7	596	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		164			Glu-rich.		B1MVG5	Nonsense_Mutation	SNP	ENST00000369314.1	37	c.490G>T	CCDS914.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705438	0.89018	.	.	ENSG00000121851	ENST00000369314;ENST00000369313	.	.	.	5.25	5.25	0.73442	.	0.129822	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.9738	16.3759	0.83392	0.0:1.0:0.0:0.0	.	.	.	.	X	164;141	.	ENSP00000358319:E141X	E	-	1	0	POLR3GL	144168428	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.453000	0.60061	2.745000	0.94114	0.655000	0.94253	GAG		0.443	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038510.1	NM_032305		5	36	1	0	0.184627	1	0.184627	5	36				
PRAP1	118471	broad.mit.edu	37	10	135165854	135165854	+	Silent	SNP	C	C	T	rs199985644		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:135165854C>T	ENST00000433452.2	+	5	638	c.366C>T	c.(364-366)ggC>ggT	p.G122G	PRAP1_ENST00000458230.1_Silent_p.G113G|RP11-122K13.7_ENST00000452591.1_RNA|FUOM_ENST00000465384.1_5'Flank|PRAP1_ENST00000423766.1_Silent_p.G123G|ZNF511_ENST00000368554.4_Silent_p.G281G|PRAP1_ENST00000463201.1_3'UTR			Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1	122						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		AGGACCAGGGCGAGGAGAGGC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		15906	0.0		0.001	False		,,,				2504	0.0					ENST00000368554.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(841-843)ggC>ggT		zinc finger protein 511							95.0	97.0	96.0					10																	135165854		2203	4300	6503	SO:0001819	synonymous_variant	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135165854C>T	AF421885	CCDS7679.1	10q26.3	2012-10-01			ENSG00000165828	ENSG00000165828			23304	protein-coding gene	gene with protein product		609776				14583459, 20674898	Standard	NM_001145201		Approved	UPA		Q96NZ9	OTTHUMG00000019312	ENST00000433452.2:c.366C>T	10.37:g.135165854C>T						PRAP1_ENST00000423766.1_Silent_p.G123G|PRAP1_ENST00000433452.2_Silent_p.G122G|PRAP1_ENST00000458230.1_Silent_p.G113G|PRAP1_ENST00000463201.1_3'UTR	p.G281G			Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	8	865	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	0					B7ZL57|B7ZL58|E9KL31|Q5VWY4|Q7Z4X5|Q8IWR3|Q8NCS2	Silent	SNP	ENST00000433452.2	37	c.843C>T	CCDS7679.1																																																																																				0.652	PRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051132.1	NM_145202		31	110	0	0	0	1	0	31	110				
CCDC62	84660	broad.mit.edu	37	12	123265739	123265739	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:123265739C>G	ENST00000253079.6	+	3	602	c.258C>G	c.(256-258)atC>atG	p.I86M	CCDC62_ENST00000537566.1_5'UTR|CCDC62_ENST00000392440.2_5'Flank|CCDC62_ENST00000392441.4_Missense_Mutation_p.I86M	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	86					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CTGAAATAATCAGGTCACTCA	0.383																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(256-258)atC>atG		coiled-coil domain containing 62							99.0	92.0	94.0					12																	123265739		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123265739C>G		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.258C>G	12.37:g.123265739C>G	ENSP00000253079:p.Ile86Met					CCDC62_ENST00000392441.4_Missense_Mutation_p.I86M|CCDC62_ENST00000537566.1_5'UTR	p.I86M	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	3	602	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		86					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.258C>G	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819462	0.50633	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.36520	1.25;1.25	5.5	1.07	0.20283	.	0.072493	0.51477	D	0.000083	T	0.48114	0.1482	M	0.65498	2.005	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.74023	0.931;0.982	T	0.38001	-0.9681	10	0.39692	T	0.17	-14.209	4.4888	0.11803	0.1588:0.5343:0.0:0.307	.	86;86	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	M	86	ENSP00000253079:I86M;ENSP00000376236:I86M	ENSP00000253079:I86M	I	+	3	3	CCDC62	121831692	1.000000	0.71417	0.501000	0.27601	0.909000	0.53808	1.055000	0.30467	0.300000	0.22699	-0.157000	0.13467	ATC		0.383	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		22	86	0	0	0	1	0	22	86				
KRT33A	3883	broad.mit.edu	37	17	39502764	39502764	+	Missense_Mutation	SNP	C	C	T	rs142473669		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:39502764C>T	ENST00000007735.3	-	6	1077	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	345	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CGCGCCCGCACGTCCAGCAGC	0.607																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1033-1035)Gtg>Atg		keratin 33A		C	MET/VAL	3,4403	4.2+/-10.8	0,3,2200	81.0	83.0	82.0		1033	3.5	0.6	17	dbSNP_134	82	0,8600		0,0,4300	no	missense	KRT33A	NM_004138.2	21	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	345/405	39502764	3,13003	2203	4300	6503	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39502764C>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.1033G>A	17.37:g.39502764C>T	ENSP00000007735:p.Val345Met						p.V345M	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			6	1077	-		Breast(137;0.000496)	345			Coil 2.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.1033G>A	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337742	0.60963	6.81E-4	0.0	ENSG00000006059	ENST00000007735	D	0.92595	-3.07	4.55	3.53	0.40419	Filament (1);	0.107907	0.41396	D	0.000883	D	0.92496	0.7617	M	0.83774	2.66	0.26143	N	0.980254	B	0.29232	0.238	B	0.40009	0.316	D	0.87885	0.2680	10	0.72032	D	0.01	.	6.7432	0.23447	0.0:0.7122:0.0:0.2878	.	345	O76009	KT33A_HUMAN	M	345	ENSP00000007735:V345M	ENSP00000007735:V345M	V	-	1	0	KRT33A	36756290	0.929000	0.31497	0.587000	0.28692	0.950000	0.60333	0.691000	0.25467	1.093000	0.41377	0.655000	0.94253	GTG		0.607	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		31	121	0	0	0	1	0	31	121				
RHOV	171177	broad.mit.edu	37	15	41165520	41165520	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr15:41165520G>A	ENST00000220507.4	-	3	596	c.447C>T	c.(445-447)gaC>gaT	p.D149D	AC025166.1_ENST00000582049.1_RNA	NM_133639.3	NP_598378.3			ras homolog family member V											central_nervous_system(1)|large_intestine(1)	2		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;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CGTTGACATCGTCCCTCAGGT	0.647																																					Pancreas(13;103 483 3593 12123 44457)	ENST00000220507.4																			0				central_nervous_system(1)|large_intestine(1)	2						c.(445-447)gaC>gaT		ras homolog family member V																																				SO:0001819	synonymous_variant	171177				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding	g.chr15:41165520G>A	AY059636	CCDS10068.1	15q13.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000104140	ENSG00000104140			18313	protein-coding gene	gene with protein product			"""ras homolog gene family, member V"""	ARHV		11839775	Standard	NM_133639		Approved	Chp, WRCH2	uc001znd.3	Q96L33	OTTHUMG00000130134	ENST00000220507.4:c.447C>T	15.37:g.41165520G>A							p.D149D	NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	3	596	-		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)	149						Silent	SNP	ENST00000220507.4	37	c.447C>T	CCDS10068.1																																																																																				0.647	RHOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252442.1			37	114	0	0	0	1	0	37	114				
MYH14	79784	broad.mit.edu	37	19	50795567	50795567	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:50795567G>A	ENST00000596571.1	+	34	5054	c.5054G>A	c.(5053-5055)cGg>cAg	p.R1685Q	MYH14_ENST00000262269.8_Missense_Mutation_p.R1726Q|MYH14_ENST00000601313.1_Missense_Mutation_p.R1726Q|MYH14_ENST00000440075.2_Missense_Mutation_p.R1726Q|MYH14_ENST00000425460.1_Missense_Mutation_p.R1693Q|MYH14_ENST00000376970.2_Missense_Mutation_p.R1718Q|MYH14_ENST00000598205.1_Missense_Mutation_p.R1693Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1685					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CGCACCTCCCGGGAGGAGATC	0.632																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(5176-5178)cGg>cAg		myosin, heavy chain 14, non-muscle							18.0	21.0	20.0					19																	50795567		1975	4172	6147	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50795567G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5054G>A	19.37:g.50795567G>A	ENSP00000472819:p.Arg1685Gln					MYH14_ENST00000262269.8_Missense_Mutation_p.R1726Q|MYH14_ENST00000425460.1_Missense_Mutation_p.R1693Q|MYH14_ENST00000376970.2_Missense_Mutation_p.R1718Q|MYH14_ENST00000598205.1_Missense_Mutation_p.R1693Q|MYH14_ENST00000601313.1_Missense_Mutation_p.R1726Q|MYH14_ENST00000596571.1_Missense_Mutation_p.R1685Q	p.R1726Q			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	37	5224	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1685					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.5177G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268069	0.59540	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.03	4.03	0.46877	Myosin tail (1);	.	.	.	.	T	0.74114	0.3674	L	0.42529	1.33	0.39018	D	0.959681	P;D;P	0.55800	0.941;0.973;0.703	B;P;B	0.50537	0.271;0.643;0.271	T	0.70857	-0.4758	9	0.09843	T	0.71	.	14.0426	0.64687	0.0:0.0:1.0:0.0	.	1726;1685;1693	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Q	1726;1718;1693;1469;1726	ENSP00000406273:R1726Q;ENSP00000366169:R1718Q;ENSP00000407879:R1693Q;ENSP00000262269:R1726Q	ENSP00000262269:R1726Q	R	+	2	0	MYH14	55487379	1.000000	0.71417	0.988000	0.46212	0.625000	0.37756	7.097000	0.76967	2.258000	0.74832	0.297000	0.19635	CGG		0.632	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		3	7	0	0	0	1	0	3	7				
NRP2	8828	broad.mit.edu	37	2	206608073	206608073	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:206608073C>T	ENST00000357785.5	+	9	1469	c.1438C>T	c.(1438-1440)Cag>Tag	p.Q480*	NRP2_ENST00000355117.4_Nonsense_Mutation_p.Q480*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.Q480*|NRP2_ENST00000360409.3_Nonsense_Mutation_p.Q480*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.Q480*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.Q480*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.Q480*|NRP2_ENST00000417189.1_Nonsense_Mutation_p.Q480*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.Q480*			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCGAATCCCTCAGGCCCAGCC	0.617																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1438-1440)Cag>Tag		neuropilin 2							54.0	61.0	58.0					2																	206608073		2203	4300	6503	SO:0001587	stop_gained	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206608073C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1438C>T	2.37:g.206608073C>T	ENSP00000350432:p.Gln480*					NRP2_ENST00000540841.1_Nonsense_Mutation_p.Q480*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.Q480*|NRP2_ENST00000417189.1_Nonsense_Mutation_p.Q480*|NRP2_ENST00000357785.5_Nonsense_Mutation_p.Q480*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.Q480*|NRP2_ENST00000355117.4_Nonsense_Mutation_p.Q480*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.Q480*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.Q480*	p.Q480*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			9	2229	+			480			F5/8 type C 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	ENST00000357785.5	37	c.1438C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	44	10.923816	0.99489	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	.	.	.	5.96	5.96	0.96718	.	0.108661	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-25.6061	15.8277	0.78727	0.0:0.8649:0.1351:0.0	.	.	.	.	X	480	.	ENSP00000272849:Q480X	Q	+	1	0	NRP2	206316318	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	5.947000	0.70242	2.813000	0.96785	0.655000	0.94253	CAG		0.617	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			53	66	0	0	0	1	0	53	66				
C6orf15	29113	broad.mit.edu	37	6	31079539	31079539	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:31079539G>A	ENST00000259870.3	-	2	600	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	199					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCCTGTGGATGAGAGACCAGG	0.617																																						ENST00000259870.3																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(595-597)ctC>ctT		chromosome 6 open reading frame 15							32.0	33.0	33.0					6																	31079539		1753	3345	5098	SO:0001819	synonymous_variant	29113							g.chr6:31079539G>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.597C>T	6.37:g.31079539G>A							p.L199L	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN			2	600	-			199					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Silent	SNP	ENST00000259870.3	37	c.597C>T	CCDS4693.1																																																																																				0.617	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		16	48	0	0	0	1	0	16	48				
NLN	57486	broad.mit.edu	37	5	65118740	65118740	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr5:65118740G>A	ENST00000380985.5	+	13	2290	c.2112G>A	c.(2110-2112)ccG>ccA	p.P704P	NLN_ENST00000502464.1_Silent_p.P600P|NLN_ENST00000515595.1_3'UTR	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	704			P -> S (in dbSNP:rs6860508).			mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGCATGCTCCGTGAACTGGGG	0.498																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(2110-2112)ccG>ccA		neurolysin (metallopeptidase M3 family)							142.0	130.0	134.0					5																	65118740		2203	4300	6503	SO:0001819	synonymous_variant	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65118740G>A	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.2112G>A	5.37:g.65118740G>A						NLN_ENST00000515595.1_3'UTR|NLN_ENST00000502464.1_Silent_p.P600P	p.P704P	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	13	2290	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	704		P -> S (in dbSNP:rs6860508).			Q9ULJ4	Silent	SNP	ENST00000380985.5	37	c.2112G>A	CCDS3989.1																																																																																				0.498	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			26	93	0	0	0	1	0	26	93				
ARHGEF10	9639	broad.mit.edu	37	8	1812538	1812538	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr8:1812538G>A	ENST00000398564.1	+	5	556	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E186K|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E186K|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.E186K|ARHGEF10_ENST00000349830.3_Splice_Site|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E162K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	186					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TTTCCCAGCAGAAACACCAGA	0.448																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(556-558)Gaa>Aaa		Rho guanine nucleotide exchange factor (GEF) 10							136.0	118.0	124.0					8																	1812538		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1812538G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.556G>A	8.37:g.1812538G>A	ENSP00000381571:p.Glu186Lys					ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E186K|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E162K|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E186K|ARHGEF10_ENST00000349830.3_Splice_Site|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.E186K	p.E186K			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	6	719	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	186					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.556G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.810|9.810	1.182849|1.182849	0.21870|0.21870	.|.	.|.	ENSG00000104728|ENSG00000104728	ENST00000349830|ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112	.|T;T;T;T;T	.|0.64803	.|0.29;0.34;-0.12;0.34;0.34	4.2|4.2	4.2|4.2	0.49525|0.49525	.|.	.|1.640570	.|0.03329	.|N	.|0.193106	.|T	.|0.41811	.|0.1175	.|.	.|.	.|.	0.19300|0.19300	N|N	0.99998|0.99998	.|P;P;B	.|0.37276	.|0.589;0.454;0.241	.|B;B;B	.|0.30855	.|0.121;0.053;0.058	.|T	.|0.31503	.|-0.9941	.|9	.|0.10902	.|T	.|0.67	.|-26.4856	9.6125|9.6125	0.39672|0.39672	0.1008:0.0:0.8992:0.0|0.1008:0.0:0.8992:0.0	.|.	.|186;186;162	.|O15013-4;E9PB39;O15013-7	.|.;.;.	.|K	-1|162;186;186;186;186	.|ENSP00000427909:E162K;ENSP00000431012:E186K;ENSP00000381568:E186K;ENSP00000381571:E186K;ENSP00000262112:E186K	.|ENSP00000262112:E186K	.|E	+|+	.|1	.|0	ARHGEF10|ARHGEF10	1799945|1799945	0.986000|0.986000	0.35501|0.35501	0.402000|0.402000	0.26371|0.26371	0.010000|0.010000	0.07245|0.07245	3.040000|3.040000	0.49799|0.49799	2.311000|2.311000	0.77944|0.77944	0.655000|0.655000	0.94253|0.94253	.|GAA		0.448	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				38	85	0	0	0	1	0	38	85				
ITGA10	8515	broad.mit.edu	37	1	145530360	145530360	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:145530360T>C	ENST00000369304.3	+	6	750	c.575T>C	c.(574-576)gTa>gCa	p.V192A	ITGA10_ENST00000538811.1_Missense_Mutation_p.V61A|ITGA10_ENST00000539363.1_Missense_Mutation_p.V49A	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	192	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGAAGACTGGTAGGGAAACTG	0.488																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(574-576)gTa>gCa		integrin, alpha 10							131.0	114.0	120.0					1																	145530360		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145530360T>C	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.575T>C	1.37:g.145530360T>C	ENSP00000358310:p.Val192Ala					ITGA10_ENST00000538811.1_Missense_Mutation_p.V61A|ITGA10_ENST00000539363.1_Missense_Mutation_p.V49A	p.V192A	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			6	750	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		192			VWFA.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.575T>C	CCDS918.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.919650	0.92249	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	D;D;D	0.85339	-1.97;-1.97;-1.97	5.39	5.39	0.77823	von Willebrand factor, type A (3);	0.096418	0.43416	D	0.000576	D	0.85274	0.5659	L	0.54965	1.715	0.47441	D	0.999422	P;B;D;P	0.53619	0.917;0.178;0.961;0.933	P;B;P;P	0.56343	0.774;0.113;0.743;0.796	D	0.87518	0.2444	10	0.72032	D	0.01	.	13.3663	0.60687	0.0:0.0:0.0:1.0	.	158;61;49;192	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	A	192;158;49;61	ENSP00000358310:V192A;ENSP00000439894:V49A;ENSP00000440011:V61A	ENSP00000358310:V192A	V	+	2	0	ITGA10	144241717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.428000	0.80296	2.050000	0.60909	0.528000	0.53228	GTA		0.488	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		28	106	0	0	0	1	0	28	106				
MAGEC1	9947	broad.mit.edu	37	X	140994102	140994102	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:140994102G>A	ENST00000285879.4	+	4	1198	c.912G>A	c.(910-912)caG>caA	p.Q304Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	304										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCAGATTCCTGTGA	0.498										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(910-912)caG>caA		melanoma antigen family C, 1							132.0	125.0	127.0					X																	140994102		2196	4285	6481	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994102G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.912G>A	X.37:g.140994102G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.Q304Q	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1198	+	Acute lymphoblastic leukemia(192;6.56e-05)		304					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.912G>A	CCDS35417.1																																																																																				0.498	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		73	403	0	0	0	1	0	73	403				
TDRKH	11022	broad.mit.edu	37	1	151749034	151749034	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:151749034C>G	ENST00000368822.1	-	7	1558	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q	TDRKH_ENST00000368827.6_Missense_Mutation_p.E309Q|TDRKH_ENST00000368823.1_Missense_Mutation_p.E305Q|TDRKH_ENST00000484421.1_5'Flank|TDRKH_ENST00000440583.2_Missense_Mutation_p.E85Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E309Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E264Q|TDRKH_ENST00000368824.3_Missense_Mutation_p.E309Q			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	309					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACGTAGACTTCTAGGTACTCA	0.493																																						ENST00000368822.1																			0				breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(925-927)Gaa>Caa		tudor and KH domain containing							94.0	94.0	94.0					1																	151749034		1936	4143	6079	SO:0001583	missense	11022						RNA binding	g.chr1:151749034C>G	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.925G>C	1.37:g.151749034C>G	ENSP00000357812:p.Glu309Gln					TDRKH_ENST00000368823.1_Missense_Mutation_p.E305Q|TDRKH_ENST00000368827.6_Missense_Mutation_p.E309Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E309Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E264Q|TDRKH_ENST00000440583.2_Missense_Mutation_p.E85Q|TDRKH_ENST00000368824.3_Missense_Mutation_p.E309Q	p.E309Q			Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1558	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		309					D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368822.1	37	c.925G>C	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096761	0.76870	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000440583	T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;2.92	5.38	5.38	0.77491	Maternal tudor protein (1);	0.095579	0.64402	D	0.000001	T	0.26085	0.0636	M	0.79693	2.465	0.80722	D	1	D;D;D	0.69078	0.997;0.969;0.997	D;P;P	0.63113	0.911;0.724;0.812	T	0.00728	-1.1591	10	0.49607	T	0.09	-14.4165	17.8585	0.88773	0.0:1.0:0.0:0.0	.	264;305;309	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	Q	309;264;309;305;309;309;85	ENSP00000357819:E309Q;ENSP00000357817:E264Q;ENSP00000357815:E309Q;ENSP00000357813:E305Q;ENSP00000357812:E309Q;ENSP00000395718:E309Q;ENSP00000416645:E85Q	ENSP00000357812:E309Q	E	-	1	0	TDRKH	150015658	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	6.975000	0.76128	2.806000	0.96561	0.655000	0.94253	GAA		0.493	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		33	79	0	0	0	1	0	33	79				
CD22	933	broad.mit.edu	37	19	35831832	35831832	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:35831832G>C	ENST00000085219.5	+	7	1364	c.1298G>C	c.(1297-1299)cGa>cCa	p.R433P	CD22_ENST00000270311.6_Missense_Mutation_p.R313P|CD22_ENST00000341773.6_Missense_Mutation_p.R256P|CD22_ENST00000544992.2_Missense_Mutation_p.R433P|CD22_ENST00000594250.1_Missense_Mutation_p.R256P|CD22_ENST00000419549.2_Missense_Mutation_p.R261P|CD22_ENST00000536635.2_Missense_Mutation_p.R345P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	433	Ig-like C2-type 4.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATGCCGATTCGAGAAGGAGAC	0.512																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1297-1299)cGa>cCa		CD22 molecule	OspA lipoprotein(DB00045)						133.0	119.0	123.0					19																	35831832		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35831832G>C	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1298G>C	19.37:g.35831832G>C	ENSP00000085219:p.Arg433Pro					CD22_ENST00000270311.6_Missense_Mutation_p.R313P|CD22_ENST00000419549.2_Missense_Mutation_p.R261P|CD22_ENST00000544992.2_Missense_Mutation_p.R433P|CD22_ENST00000341773.6_Missense_Mutation_p.R256P|CD22_ENST00000594250.1_Missense_Mutation_p.R256P|CD22_ENST00000536635.2_Missense_Mutation_p.R345P	p.R433P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1364	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		433			Ig-like C2-type 4.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.1298G>C	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828766	0.50845	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.66	0.489	0.16854	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.462954	0.18559	N	0.137680	D	0.88872	0.6555	M	0.65975	2.015	0.27655	N	0.947269	D;D;D;D;D	0.89917	0.997;0.999;1.0;0.995;1.0	D;D;D;D;D	0.78314	0.968;0.97;0.991;0.963;0.99	T	0.77902	-0.2414	10	0.30078	T	0.28	.	2.9931	0.05989	0.1723:0.1421:0.5401:0.1456	.	261;433;345;433;256	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	P	433;345;256;433;313;261	ENSP00000085219:R433P;ENSP00000442279:R345P;ENSP00000339349:R256P;ENSP00000441237:R433P;ENSP00000270311:R313P;ENSP00000403822:R261P	ENSP00000085219:R433P	R	+	2	0	CD22	40523672	0.856000	0.29760	0.978000	0.43139	0.623000	0.37688	0.100000	0.15231	0.320000	0.23234	0.555000	0.69702	CGA		0.512	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		26	96	0	0	0	1	0	26	96				
SMG1	23049	broad.mit.edu	37	16	18851040	18851040	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:18851040C>G	ENST00000446231.2	-	42	7337	c.6925G>C	c.(6925-6927)Gaa>Caa	p.E2309Q	SMG1_ENST00000389467.3_Missense_Mutation_p.E2309Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2309	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTCCACCATTCATCAGGTGTT	0.453																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(6925-6927)Gaa>Caa		SMG1 phosphatidylinositol 3-kinase-related kinase							98.0	99.0	99.0					16																	18851040		1962	4157	6119	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18851040C>G	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6925G>C	16.37:g.18851040C>G	ENSP00000402515:p.Glu2309Gln					SMG1_ENST00000389467.3_Missense_Mutation_p.E2309Q	p.E2309Q			Q96Q15	SMG1_HUMAN			42	7337	-			2309			PI3K/PI4K.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.6925G>C	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927060	0.73327	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.79141	-1.24;-1.24	5.95	5.95	0.96441	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.64402	D	0.000002	D	0.84133	0.5405	L	0.41492	1.28	0.49051	D	0.999741	D;D	0.69078	0.989;0.997	D;D	0.81914	0.969;0.995	T	0.79955	-0.1585	10	0.27785	T	0.31	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	2169;2309	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	Q	2309	ENSP00000402515:E2309Q;ENSP00000374118:E2309Q	ENSP00000374118:E2309Q	E	-	1	0	SMG1	18758541	1.000000	0.71417	0.895000	0.35142	0.910000	0.53928	7.202000	0.77856	2.817000	0.96982	0.563000	0.77884	GAA		0.453	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		27	91	0	0	0	1	0	27	91				
TRIP10	9322	broad.mit.edu	37	19	6742999	6742999	+	Silent	SNP	C	C	T	rs148560112	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:6742999C>T	ENST00000313244.9	+	4	254	c.219C>T	c.(217-219)ttC>ttT	p.F73F	TRIP10_ENST00000596758.1_Silent_p.F73F|TRIP10_ENST00000313285.8_Silent_p.F73F|TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000600428.1_5'UTR			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	73	F-BAR domain.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.F73F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AACAGTCCTTCGTACAGATTC	0.582													C|||	8	0.00159744	0.0061	0.0	5008	,	,		16995	0.0		0.0	False		,,,				2504	0.0					ENST00000313244.9																			1	Substitution - coding silent(1)	p.F73F(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(217-219)ttC>ttT		thyroid hormone receptor interactor 10		C		40,4366	43.1+/-76.7	0,40,2163	89.0	89.0	89.0		219	-4.6	0.3	19	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIP10	NM_004240.2		0,41,6462	TT,TC,CC		0.0116,0.9079,0.3152		73/546	6742999	41,12965	2203	4300	6503	SO:0001819	synonymous_variant	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6742999C>T	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.219C>T	19.37:g.6742999C>T						TRIP10_ENST00000596758.1_Silent_p.F73F|TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000313285.8_Silent_p.F73F|TRIP10_ENST00000600428.1_5'UTR	p.F73F			Q15642	CIP4_HUMAN			4	254	+			73			Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37	c.219C>T																																																																																					0.582	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			23	82	0	0	0	1	0	23	82				
HIST1H2BN	8341	broad.mit.edu	37	6	27806511	27806511	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:27806511G>T	ENST00000396980.3	+	1	72	c.72G>T	c.(70-72)aaG>aaT	p.K24N	HIST1H2BN_ENST00000606613.1_Missense_Mutation_p.K24N|HIST1H2AK_ENST00000330180.2_5'Flank	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	24					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AGGCCCAGAAGAAGGACGGCA	0.587																																						ENST00000606613.1																			0				central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						c.(70-72)aaG>aaT		histone cluster 1, H2bn							152.0	144.0	147.0					6																	27806511		2203	4300	6503	SO:0001583	missense	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806511G>T	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.72G>T	6.37:g.27806511G>T	ENSP00000380177:p.Lys24Asn					HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.K24N	p.K24N			Q99877	H2B1N_HUMAN			1	133	+			24					B2R5L4|Q494S8|Q96FB7	Missense_Mutation	SNP	ENST00000396980.3	37	c.72G>T	CCDS4633.1	.	.	.	.	.	.	.	.	.	.	.	11.75	1.730850	0.30684	.	.	ENSG00000233822	ENST00000449538;ENST00000396980	T;T	0.22743	1.94;1.94	4.53	4.53	0.55603	Histone-fold (2);	0.000000	0.31834	U	0.006999	T	0.12433	0.0302	M	0.68952	2.095	0.29259	N	0.871477	B;P	0.35155	0.001;0.487	B;B	0.24394	0.0;0.053	T	0.07947	-1.0746	10	0.66056	D	0.02	.	17.142	0.86756	0.0:0.0:1.0:0.0	.	24;24	Q99877;B2R4S9	H2B1N_HUMAN;.	N	24	ENSP00000446031:K24N;ENSP00000380177:K24N	ENSP00000380177:K24N	K	+	3	2	HIST1H2BN	27914490	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.709000	0.47160	2.432000	0.82394	0.655000	0.94253	AAG		0.587	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		51	208	1	0	2.0833e-19	1	2.23914e-19	51	208				
ACP2	53	broad.mit.edu	37	11	47269208	47269208	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:47269208G>C	ENST00000256997.3	-	3	397	c.281C>G	c.(280-282)tCt>tGt	p.S94C	NR1H3_ENST00000395397.3_5'Flank|ACP2_ENST00000529788.1_Missense_Mutation_p.S94C|ACP2_ENST00000530453.1_Missense_Mutation_p.S94C|NR1H3_ENST00000481889.2_5'Flank|ACP2_ENST00000525230.1_5'Flank|ACP2_ENST00000533929.1_Missense_Mutation_p.S66C|ACP2_ENST00000537863.1_5'UTR|ACP2_ENST00000444355.2_Missense_Mutation_p.S94C|ACP2_ENST00000527256.1_Missense_Mutation_p.S62C|NR1H3_ENST00000405576.1_5'Flank|NR1H3_ENST00000407404.1_5'Flank|ACP2_ENST00000529444.1_Missense_Mutation_p.S94C	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	94					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CCGGTGATAAGAGGTGTTTAG	0.592																																					Melanoma(90;262 1440 11488 44828 48531)	ENST00000256997.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						c.(280-282)tCt>tGt		acid phosphatase 2, lysosomal							98.0	83.0	88.0					11																	47269208		2201	4298	6499	SO:0001583	missense	53					integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity	g.chr11:47269208G>C	X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.281C>G	11.37:g.47269208G>C	ENSP00000256997:p.Ser94Cys					ACP2_ENST00000527256.1_Missense_Mutation_p.S62C|ACP2_ENST00000444355.2_Missense_Mutation_p.S94C|ACP2_ENST00000537863.1_5'UTR|ACP2_ENST00000533929.1_Missense_Mutation_p.S66C|ACP2_ENST00000529444.1_Missense_Mutation_p.S94C|ACP2_ENST00000529788.1_Missense_Mutation_p.S94C|ACP2_ENST00000530453.1_Missense_Mutation_p.S94C	p.S94C	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN			3	397	-			94					E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	ENST00000256997.3	37	c.281C>G	CCDS7928.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439545	0.83885	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000540414;ENST00000533929;ENST00000529663;ENST00000530453;ENST00000444355;ENST00000529788	T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.53	5.53	0.82687	.	0.110351	0.64402	D	0.000006	T	0.64427	0.2597	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.975;0.991;0.998;0.995;0.998;0.999	T	0.70292	-0.4912	10	0.62326	D	0.03	.	19.076	0.93161	0.0:0.0:1.0:0.0	.	94;94;62;66;84;94	E9PCI1;E9PHY0;B7Z7D2;E9PQY3;F5H1S6;P11117	.;.;.;.;.;PPAL_HUMAN	C	94;94;62;84;66;94;94;94;94	ENSP00000256997:S94C;ENSP00000436658:S94C;ENSP00000432205:S62C;ENSP00000432439:S66C;ENSP00000436487:S94C;ENSP00000434205:S94C;ENSP00000414911:S94C;ENSP00000436828:S94C	ENSP00000256997:S94C	S	-	2	0	ACP2	47225784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.170000	0.58229	2.596000	0.87737	0.655000	0.94253	TCT		0.592	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2	NM_001610		35	96	0	0	0	1	0	35	96				
SORCS1	114815	broad.mit.edu	37	10	108427467	108427467	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:108427467C>A	ENST00000263054.6	-	17	2290	c.2283G>T	c.(2281-2283)caG>caT	p.Q761H	SORCS1_ENST00000344440.6_Missense_Mutation_p.Q761H|SORCS1_ENST00000369698.1_Missense_Mutation_p.Q296H	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	761					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGAGGTAACTCTGTCCCAAGC	0.483																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2281-2283)caG>caT		sortilin-related VPS10 domain containing receptor 1							78.0	69.0	72.0					10																	108427467		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108427467C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2283G>T	10.37:g.108427467C>A	ENSP00000263054:p.Gln761His					SORCS1_ENST00000369698.1_Missense_Mutation_p.Q296H|SORCS1_ENST00000344440.6_Missense_Mutation_p.Q761H	p.Q761H	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	17	2290	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	761					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2283G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606540	0.46527	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.24538	1.85;2.41;2.41	5.49	4.58	0.56647	VPS10 (1);	0.205158	0.43260	D	0.000590	T	0.24198	0.0586	L	0.49699	1.58	0.42780	D	0.993867	B;B;B;B;B	0.21452	0.033;0.056;0.056;0.033;0.056	B;B;B;B;B	0.27262	0.022;0.078;0.078;0.036;0.078	T	0.03139	-1.1068	9	.	.	.	-14.4681	11.4378	0.50078	0.0:0.8618:0.0:0.1382	.	761;761;761;761;761	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	H	296;761;761	ENSP00000358712:Q296H;ENSP00000263054:Q761H;ENSP00000345964:Q761H	.	Q	-	3	2	SORCS1	108417457	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.343000	0.44001	2.745000	0.94114	0.462000	0.41574	CAG		0.483	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		5	24	1	0	0.000602214	1	0.000611169	5	24				
MUC5B	727897	broad.mit.edu	37	11	1268340	1268340	+	Silent	SNP	A	A	T	rs368194612		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:1268340A>T	ENST00000529681.1	+	31	10288	c.10230A>T	c.(10228-10230)ccA>ccT	p.P3410P	MUC5B_ENST00000447027.1_Silent_p.P3413P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3410	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cctcaactccagggacaactc	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10237-10239)ccA>ccT		mucin 5B, oligomeric mucus/gel-forming							148.0	179.0	169.0					11																	1268340		2112	4168	6280	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268340A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10230A>T	11.37:g.1268340A>T						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3410P	p.P3413P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10297	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3410	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10239A>T	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	13	0	0	0	1	0	3	13				
LRRC49	54839	broad.mit.edu	37	15	71302194	71302194	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr15:71302194G>A	ENST00000260382.5	+	13	1716	c.1456G>A	c.(1456-1458)Gca>Aca	p.A486T	LRRC49_ENST00000544974.2_Missense_Mutation_p.A476T|LRRC49_ENST00000443425.2_Missense_Mutation_p.A442T|LRRC49_ENST00000560369.1_Missense_Mutation_p.A491T|LRRC49_ENST00000560691.1_Missense_Mutation_p.A192T|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.A174T	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	486						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GCAATTTAACGCACTAGCCCA	0.363																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1456-1458)Gca>Aca		leucine rich repeat containing 49							111.0	99.0	103.0					15																	71302194		2199	4296	6495	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71302194G>A		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1456G>A	15.37:g.71302194G>A	ENSP00000260382:p.Ala486Thr					LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.A476T|LRRC49_ENST00000560691.1_Missense_Mutation_p.A192T|LRRC49_ENST00000560158.2_Missense_Mutation_p.A174T|LRRC49_ENST00000443425.2_Missense_Mutation_p.A442T|LRRC49_ENST00000560369.1_Missense_Mutation_p.A491T	p.A486T	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			13	1716	+			486					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1456G>A	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904638	0.72868	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.39997	1.06;1.07;1.05	5.82	5.82	0.92795	.	0.054962	0.64402	D	0.000001	T	0.39655	0.1086	L	0.48986	1.54	0.48901	D	0.999729	P;D;P;D;P	0.57571	0.925;0.98;0.945;0.966;0.657	B;B;B;B;B	0.39840	0.073;0.231;0.311;0.164;0.058	T	0.31641	-0.9936	10	0.44086	T	0.13	-18.2872	17.6602	0.88191	0.0:0.0:1.0:0.0	.	491;458;442;486;476	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	T	476;486;442;458	ENSP00000439600:A476T;ENSP00000260382:A486T;ENSP00000414065:A442T	ENSP00000260382:A486T	A	+	1	0	LRRC49	69089248	1.000000	0.71417	0.883000	0.34634	0.976000	0.68499	8.555000	0.90693	2.773000	0.95371	0.586000	0.80456	GCA		0.363	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		34	90	0	0	0	1	0	34	90				
GZF1	64412	broad.mit.edu	37	20	23345286	23345286	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr20:23345286C>T	ENST00000338121.5	+	2	343	c.266C>T	c.(265-267)tCa>tTa	p.S89L	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.S89L|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	89	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GACTTTGCTTCATTTCTTGAG	0.413																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(265-267)tCa>tTa		GDNF-inducible zinc finger protein 1							90.0	91.0	90.0					20																	23345286		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345286C>T	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.266C>T	20.37:g.23345286C>T	ENSP00000338290:p.Ser89Leu					GZF1_ENST00000377051.2_Missense_Mutation_p.S89L|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron	p.S89L			Q9H116	GZF1_HUMAN			2	343	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		89			BTB.		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.266C>T	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738579	0.49045	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.66995	-0.24;-0.24	5.33	4.39	0.52855	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.51477	D	0.000085	T	0.49677	0.1571	N	0.12887	0.27	0.80722	D	1	B	0.15141	0.012	B	0.16722	0.016	T	0.49360	-0.8948	10	0.87932	D	0	.	13.0465	0.58928	0.0:0.9225:0.0:0.0775	.	89	Q9H116	GZF1_HUMAN	L	89	ENSP00000338290:S89L;ENSP00000366250:S89L	ENSP00000338290:S89L	S	+	2	0	GZF1	23293286	0.993000	0.37304	0.761000	0.31378	0.105000	0.19272	3.250000	0.51445	1.275000	0.44379	-0.142000	0.14014	TCA		0.413	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		23	58	0	0	0	1	0	23	58				
SACS	26278	broad.mit.edu	37	13	23904625	23904625	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr13:23904625C>T	ENST00000382292.3	-	9	13663	c.13390G>A	c.(13390-13392)Gac>Aac	p.D4464N	SACS_ENST00000382298.3_Missense_Mutation_p.D4464N|SACS_ENST00000402364.1_Missense_Mutation_p.D3714N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4464	HEPN. {ECO:0000255|PROSITE- ProRule:PRU00105}.				cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTATGAAGGTCATTCCTGGCA	0.458																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(13390-13392)Gac>Aac		spastic ataxia of Charlevoix-Saguenay (sacsin)							103.0	108.0	106.0					13																	23904625		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23904625C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13390G>A	13.37:g.23904625C>T	ENSP00000371729:p.Asp4464Asn					SACS_ENST00000402364.1_Missense_Mutation_p.D3714N|SACS_ENST00000382292.3_Missense_Mutation_p.D4464N	p.D4464N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13978	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4464			HEPN.		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.13390G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779712	0.90195	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.85629	-2.01;-2.01;-2.01	5.85	5.85	0.93711	HEPN (3);	0.000000	0.85682	D	0.000000	D	0.87561	0.6208	N	0.20986	0.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84173	0.0435	10	0.21014	T	0.42	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	4464	Q9NZJ4	SACS_HUMAN	N	4464;3714;4464	ENSP00000371729:D4464N;ENSP00000385844:D3714N;ENSP00000371735:D4464N	ENSP00000371729:D4464N	D	-	1	0	SACS	22802625	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.818000	0.86416	2.767000	0.95098	0.563000	0.77884	GAC		0.458	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		45	191	0	0	0	1	0	45	191				
ANKRD11	29123	broad.mit.edu	37	16	89350234	89350234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:89350234G>A	ENST00000301030.4	-	9	3176	c.2716C>T	c.(2716-2718)Cga>Tga	p.R906*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.R906*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	906	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R906R(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCCTTCTTTCGGAAGAAGGGC	0.527																																						ENST00000301030.4																			1	Substitution - coding silent(1)	p.R906R(1)	lung(1)	breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2716-2718)Cga>Tga		ankyrin repeat domain 11							59.0	56.0	57.0					16																	89350234		2198	4300	6498	SO:0001587	stop_gained	29123					nucleus		g.chr16:89350234G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2716C>T	16.37:g.89350234G>A	ENSP00000301030:p.Arg906*					ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.R906*	p.R906*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3176	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	906			Lys-rich.		Q6NTG1|Q6QMF8	Nonsense_Mutation	SNP	ENST00000301030.4	37	c.2716C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	43	10.172439	0.99352	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	.	.	.	5.03	-0.621	0.11564	.	0.068849	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	15.618	0.76784	0.0:0.0:0.528:0.472	.	.	.	.	X	906;906;525	.	ENSP00000301030:R906X	R	-	1	2	ANKRD11	87877735	0.966000	0.33281	0.647000	0.29507	0.731000	0.41821	1.660000	0.37397	-0.354000	0.08212	-0.293000	0.09583	CGA		0.527	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		25	60	0	0	0	1	0	25	60				
GIGYF1	64599	broad.mit.edu	37	7	100283874	100283874	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:100283874C>G	ENST00000275732.5	-	8	2086	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	293					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGGCACCACTCTGGGAGCCCA	0.627																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(877-879)Gag>Cag		GRB10 interacting GYF protein 1							75.0	84.0	81.0					7																	100283874		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100283874C>G	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.877G>C	7.37:g.100283874C>G	ENSP00000275732:p.Glu293Gln					GIGYF1_ENST00000471340.2_Intron	p.E293Q	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			8	2086	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		293					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.877G>C	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	19.77	3.888818	0.72524	.	.	ENSG00000146830	ENST00000275732	D	0.90788	-2.73	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.93959	0.8066	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93926	0.7210	10	0.56958	D	0.05	-26.5781	16.0083	0.80377	0.0:1.0:0.0:0.0	.	293	O75420	PERQ1_HUMAN	Q	293	ENSP00000275732:E293Q	ENSP00000275732:E293Q	E	-	1	0	GIGYF1	100121810	1.000000	0.71417	0.959000	0.39883	0.222000	0.24845	5.911000	0.69939	2.636000	0.89361	0.655000	0.94253	GAG		0.627	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		20	52	0	0	0	1	0	20	52				
PLCL1	5334	broad.mit.edu	37	2	198949559	198949559	+	Nonsense_Mutation	SNP	C	C	T	rs376872615		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:198949559C>T	ENST00000428675.1	+	2	1716	c.1318C>T	c.(1318-1320)Cga>Tga	p.R440*	PLCL1_ENST00000437704.2_Nonsense_Mutation_p.R342*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	440	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AATGGGCTGTCGAAGCGTTGA	0.408																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1318-1320)Cga>Tga		phospholipase C-like 1	Quinacrine(DB01103)						61.0	59.0	59.0					2																	198949559		2203	4300	6503	SO:0001587	stop_gained	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949559C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1318C>T	2.37:g.198949559C>T	ENSP00000402861:p.Arg440*					PLCL1_ENST00000437704.2_Nonsense_Mutation_p.R342*	p.R440*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1716	+			440			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Nonsense_Mutation	SNP	ENST00000428675.1	37	c.1318C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	33	5.251990	0.95336	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	.	.	.	5.94	2.89	0.33648	.	0.000000	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4712	0.75441	0.4363:0.5637:0.0:0.0	.	.	.	.	X	440;342	.	.	R	+	1	2	PLCL1	198657804	0.997000	0.39634	1.000000	0.80357	0.930000	0.56654	1.426000	0.34870	1.501000	0.48654	0.561000	0.74099	CGA		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		16	76	0	0	0	1	0	16	76				
COL6A3	1293	broad.mit.edu	37	2	238303539	238303539	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:238303539C>A	ENST00000295550.4	-	3	852	c.400G>T	c.(400-402)Gct>Tct	p.A134S	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.A134S|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.A134S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	134	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGCTTCCAGCAGCCTTGGTG	0.488																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(400-402)Gct>Tct		collagen, type VI, alpha 3							76.0	80.0	79.0					2																	238303539		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238303539C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.400G>T	2.37:g.238303539C>A	ENSP00000295550:p.Ala134Ser					COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.A134S|COL6A3_ENST00000346358.4_Missense_Mutation_p.A134S|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392003.2_Intron	p.A134S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	3	852	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	134			Nonhelical region.|VWFA 1.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.400G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	9.831	1.188374	0.21954	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	4.93	2.93	0.34026	von Willebrand factor, type A (3);	0.147715	0.30620	U	0.009236	T	0.66137	0.2759	N	0.16066	0.365	0.20638	N	0.999871	B;B	0.18013	0.025;0.014	B;B	0.20955	0.032;0.012	T	0.44375	-0.9332	10	0.07030	T	0.85	.	12.7218	0.57146	0.4296:0.5703:0.0:0.0	.	134;134	E9PCV6;P12111	.;CO6A3_HUMAN	S	134	ENSP00000295550:A134S;ENSP00000315609:A134S;ENSP00000295546:A134S;ENSP00000389539:A134S	ENSP00000295550:A134S	A	-	1	0	COL6A3	237968278	1.000000	0.71417	0.996000	0.52242	0.612000	0.37316	1.697000	0.37784	0.998000	0.38996	0.455000	0.32223	GCT		0.488	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		79	83	1	0	2.32478e-39	1	2.57994e-39	79	83				
TNK1	8711	broad.mit.edu	37	17	7286862	7286862	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:7286862G>C	ENST00000576812.1	+	4	722	c.353G>C	c.(352-354)aGa>aCa	p.R118T	TNK1_ENST00000311668.2_Missense_Mutation_p.R118T|TNK1_ENST00000570896.1_Missense_Mutation_p.R118T	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				GCTGTTTGCAGAGGGGAGCTG	0.657																																						ENST00000570896.1																			0				central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16						c.(352-354)aGa>aCa		tyrosine kinase, non-receptor, 1							33.0	39.0	37.0					17																	7286862		2149	4253	6402	SO:0001583	missense	8711				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chr17:7286862G>C	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.353G>C	17.37:g.7286862G>C	ENSP00000459799:p.Arg118Thr					TNK1_ENST00000576812.1_Missense_Mutation_p.R118T|TNK1_ENST00000311668.2_Missense_Mutation_p.R118T	p.R118T			Q13470	TNK1_HUMAN			5	799	+		Prostate(122;0.157)	118	R -> K (in Ref. 2; AAC99412).		Protein kinase.			Missense_Mutation	SNP	ENST00000576812.1	37	c.353G>C	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079284	0.76528	.	.	ENSG00000174292	ENST00000311668	T	0.61980	0.06	4.48	4.48	0.54585	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000068	T	0.71508	0.3348	L	0.39467	1.215	0.32731	N	0.508928	D;D	0.69078	0.996;0.997	D;D	0.80764	0.99;0.994	T	0.78280	-0.2265	10	0.72032	D	0.01	.	15.4736	0.75458	0.0:0.0:1.0:0.0	.	118;118	Q13470-2;Q13470	.;TNK1_HUMAN	T	118	ENSP00000312309:R118T	ENSP00000312309:R118T	R	+	2	0	TNK1	7227586	0.996000	0.38824	1.000000	0.80357	0.976000	0.68499	5.758000	0.68776	2.430000	0.82344	0.643000	0.83706	AGA		0.657	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		6	31	0	0	0	1	0	6	31				
KEAP1	9817	broad.mit.edu	37	19	10602926	10602926	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:10602926C>T	ENST00000171111.5	-	3	1199	c.652G>A	c.(652-654)Gag>Aag	p.E218K	KEAP1_ENST00000393623.2_Missense_Mutation_p.E218K|KEAP1_ENST00000588024.1_5'UTR|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	218	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.E218Q(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	AAGAACTCCTCTTGCTTGGCC	0.607																																						ENST00000171111.5																			1	Substitution - Missense(1)	p.E218Q(1)	lung(1)	breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(652-654)Gag>Aag		kelch-like ECH-associated protein 1							53.0	41.0	45.0					19																	10602926		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602926C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.652G>A	19.37:g.10602926C>T	ENSP00000171111:p.Glu218Lys					KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.E218K	p.E218K	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1199	-			218			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.652G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383148	0.95967	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.71222	-0.55;-0.55	5.75	5.75	0.90469	BTB/Kelch-associated (2);	0.217246	0.47852	D	0.000217	T	0.80259	0.4590	M	0.76838	2.35	0.80722	D	1	P	0.47253	0.892	P	0.51055	0.657	T	0.82619	-0.0368	10	0.87932	D	0	.	17.4444	0.87574	0.0:1.0:0.0:0.0	.	218	Q14145	KEAP1_HUMAN	K	218	ENSP00000171111:E218K;ENSP00000377245:E218K	ENSP00000171111:E218K	E	-	1	0	KEAP1	10463926	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.710000	0.84655	2.719000	0.93026	0.484000	0.47621	GAG		0.607	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		4	45	0	0	0	1	0	4	45				
OR52N4	390072	broad.mit.edu	37	11	5776059	5776059	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:5776059C>T	ENST00000317254.3	+	1	137	c.89C>T	c.(88-90)tCc>tTc	p.S30F	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTCTGGATTTCCTTCCCATTC	0.438																																						ENST00000317254.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(88-90)tCc>tTc		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							154.0	148.0	150.0					11																	5776059		1978	4171	6149	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776059C>T	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.89C>T	11.37:g.5776059C>T	ENSP00000323224:p.Ser30Phe					TRIM5_ENST00000380027.1_Intron	p.S30F	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	137	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	30					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.89C>T	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026776	0.54683	.	.	ENSG00000181074	ENST00000317254	T	0.00318	8.12	5.93	5.93	0.95920	.	0.000000	0.48767	D	0.000177	T	0.00178	0.0005	N	0.11131	0.1	0.32151	N	0.584198	B	0.32604	0.377	B	0.33620	0.167	T	0.74383	-0.3683	10	0.87932	D	0	.	18.9742	0.92728	0.0:1.0:0.0:0.0	.	30	Q8NGI2	O52N4_HUMAN	F	30	ENSP00000323224:S30F	ENSP00000323224:S30F	S	+	2	0	OR52N4	5732635	0.986000	0.35501	1.000000	0.80357	0.980000	0.70556	2.408000	0.44574	2.829000	0.97493	0.551000	0.68910	TCC		0.438	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		32	124	0	0	0	1	0	32	124				
CORIN	10699	broad.mit.edu	37	4	47788783	47788783	+	Missense_Mutation	SNP	G	G	A	rs182430182		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:47788783G>A	ENST00000273857.4	-	3	367	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CORIN_ENST00000502252.1_Intron|CORIN_ENST00000504584.1_Missense_Mutation_p.T123M|CORIN_ENST00000508498.1_De_novo_Start_InFrame|CORIN_ENST00000505909.1_Missense_Mutation_p.T123M	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	123					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGAAGCATCCGTAGTCCAGGC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		17977	0.001		0.0	False		,,,				2504	0.0					ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(367-369)aCg>aTg		corin, serine peptidase							127.0	120.0	122.0					4																	47788783		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47788783G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.368C>T	4.37:g.47788783G>A	ENSP00000273857:p.Thr123Met					CORIN_ENST00000504584.1_Missense_Mutation_p.T123M|CORIN_ENST00000508498.1_De_novo_Start_InFrame|CORIN_ENST00000505909.1_Missense_Mutation_p.T123M|CORIN_ENST00000502252.1_Intron	p.T123M	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			3	367	-			123					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.368C>T	CCDS3477.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.55	1.382265	0.24944	.	.	ENSG00000145244	ENST00000273857;ENST00000505909;ENST00000504584	D;D;D	0.93019	-2.65;-2.55;-3.15	4.82	-3.04	0.05412	.	0.872654	0.09929	N	0.737512	T	0.79423	0.4443	N	0.17082	0.46	0.09310	N	1	P;B;B	0.36144	0.539;0.008;0.09	B;B;B	0.19391	0.025;0.002;0.015	T	0.71237	-0.4652	10	0.48119	T	0.1	.	0.4095	0.00438	0.3574:0.1317:0.2427:0.2682	.	123;123;123	B7Z4R1;B4E2W9;Q9Y5Q5	.;.;CORIN_HUMAN	M	123	ENSP00000273857:T123M;ENSP00000425401:T123M;ENSP00000423216:T123M	ENSP00000273857:T123M	T	-	2	0	CORIN	47483540	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.183000	0.09712	-0.541000	0.06257	0.563000	0.77884	ACG		0.453	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			25	74	0	0	0	1	0	25	74				
SCIMP	388325	broad.mit.edu	37	17	5124583	5124583	+	Splice_Site	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:5124583C>T	ENST00000574081.1	-	3	312	c.208G>A	c.(208-210)Gag>Aag	p.E70K	SCIMP_ENST00000574297.1_Splice_Site_p.E70K|RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000571800.1_Splice_Site_p.E63K|RP11-333E1.1_ENST00000573772.1_RNA|SCIMP_ENST00000399600.4_Splice_Site_p.E63K	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein	70	Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											CCTACTTACTCATACATCTTT	0.458																																						ENST00000574081.1																			0											c.e3+1		SLP adaptor and CSK interacting membrane protein							235.0	222.0	226.0					17																	5124583		1884	4108	5992	SO:0001630	splice_region_variant	388325					integral to membrane		g.chr17:5124583C>T	AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"""SLP65/SLP76, Csk-interacting membrane protein"""	614406	"""chromosome 17 open reading frame 87"""	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.209+1G>A	17.37:g.5124583C>T						SCIMP_ENST00000574297.1_Splice_Site_p.E70_splice|SCIMP_ENST00000399600.4_Splice_Site_p.E63_splice|RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000571800.1_Splice_Site_p.E63_splice|RP11-333E1.1_ENST00000571689.1_RNA	p.E70_splice	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN			3	312	-			70					A6XGL4|B4DLK1|Q96MD0	Splice_Site	SNP	ENST00000574081.1	37	c.209_splice	CCDS42242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.61|17.61	3.433229|3.433229	0.62844|0.62844	.|.	.|.	ENSG00000161929|ENSG00000161929	ENST00000399592|ENST00000399600	.|.	.|.	.|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.56097	.|D	.|0.000028	T|T	0.71592|0.71592	0.3358|0.3358	M|M	0.64997|0.64997	1.995|1.995	0.34438|0.34438	D|D	0.699349|0.699349	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.83275	.|0.996;0.996;0.996	T|T	0.78398|0.78398	-0.2219|-0.2219	6|9	0.72032|0.56958	D|D	0.01|0.05	-20.404|-20.404	13.1819|13.1819	0.59660|0.59660	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|63;63;70	.|A6XGL4;Q6UWF3-2;Q6UWF3	.|.;.;CQ087_HUMAN	N|K	59|70	.|.	ENSP00000382501:D59N|ENSP00000382509:E70K	D|E	-|-	1|1	0|0	C17orf87|C17orf87	5065307|5065307	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.852000|0.852000	0.48524|0.48524	3.208000|3.208000	0.51114|0.51114	2.833000|2.833000	0.97629|0.97629	0.651000|0.651000	0.88453|0.88453	GAC|GAG		0.458	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256425.2	NM_207103	Missense_Mutation	30	128	0	0	0	1	0	30	128				
FAM49B	51571	broad.mit.edu	37	8	130867886	130867886	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr8:130867886G>A	ENST00000519824.2	-	6	682	c.409C>T	c.(409-411)Cat>Tat	p.H137Y	FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000522746.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000401979.2_Missense_Mutation_p.H137Y|FAM49B_ENST00000519110.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000519540.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000517654.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000523509.1_Missense_Mutation_p.H137Y	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	137						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			AGTGTGAAATGAAGAATTTCT	0.423																																						ENST00000519824.2																			0				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(409-411)Cat>Tat		family with sequence similarity 49, member B							85.0	88.0	87.0					8																	130867886		2203	4300	6503	SO:0001583	missense	51571							g.chr8:130867886G>A	AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.409C>T	8.37:g.130867886G>A	ENSP00000429150:p.His137Tyr					FAM49B_ENST00000517654.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000523509.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000401979.2_Missense_Mutation_p.H137Y|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000519110.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000519540.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000522746.1_Missense_Mutation_p.H137Y	p.H137Y	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	LUAD - Lung adenocarcinoma(14;0.0989)		6	682	-	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		137					Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	ENST00000519824.2	37	c.409C>T	CCDS6361.1	.	.	.	.	.	.	.	.	.	.	G	34	5.347197	0.95807	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000311292;ENST00000519142	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.74092	0.3671	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.75286	-0.3371	10	0.62326	D	0.03	-19.1299	19.848	0.96722	0.0:0.0:1.0:0.0	.	137	Q9NUQ9	FA49B_HUMAN	Y	137;137;137;137;137;137;137;91;137	ENSP00000428117:H137Y;ENSP00000429802:H137Y;ENSP00000384880:H137Y;ENSP00000429078:H137Y;ENSP00000429150:H137Y;ENSP00000430674:H137Y;ENSP00000429499:H137Y;ENSP00000430806:H137Y	ENSP00000311651:H91Y	H	-	1	0	FAM49B	130937068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CAT		0.423	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2	NM_016623		42	73	0	0	0	1	0	42	73				
TDRKH	11022	broad.mit.edu	37	1	151751715	151751715	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:151751715C>T	ENST00000368822.1	-	5	1058	c.425G>A	c.(424-426)aGa>aAa	p.R142K	TDRKH_ENST00000368827.6_Missense_Mutation_p.R142K|TDRKH_ENST00000368823.1_Missense_Mutation_p.R138K|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000458431.2_Missense_Mutation_p.R142K|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000368824.3_Missense_Mutation_p.R142K			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	142	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCGCCGCCTCTCCCTACATT	0.398																																						ENST00000368822.1																			0				breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(424-426)aGa>aAa		tudor and KH domain containing							81.0	76.0	77.0					1																	151751715		1852	4085	5937	SO:0001583	missense	11022						RNA binding	g.chr1:151751715C>T	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.425G>A	1.37:g.151751715C>T	ENSP00000357812:p.Arg142Lys					TDRKH_ENST00000368823.1_Missense_Mutation_p.R138K|TDRKH_ENST00000368827.6_Missense_Mutation_p.R142K|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000458431.2_Missense_Mutation_p.R142K|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Missense_Mutation_p.R142K	p.R142K			Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	1058	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		142			KH 2.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368822.1	37	c.425G>A	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511106	0.85389	.	.	ENSG00000182134	ENST00000368827;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.87	5.87	0.94306	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.103298	0.64402	D	0.000003	T	0.13157	0.0319	N	0.20328	0.56	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.62089	0.898;0.898	T	0.18587	-1.0332	10	0.02654	T	1	-16.7832	9.1683	0.37065	0.0:0.8475:0.0:0.1525	.	138;142	Q5SZR4;Q9Y2W6	.;TDRKH_HUMAN	K	142;142;138;142;142	ENSP00000357819:R142K;ENSP00000357815:R142K;ENSP00000357813:R138K;ENSP00000357812:R142K;ENSP00000395718:R142K	ENSP00000357812:R142K	R	-	2	0	TDRKH	150018339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.535000	0.53575	2.770000	0.95276	0.650000	0.86243	AGA		0.398	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		21	59	0	0	0	1	0	21	59				
CREBBP	1387	broad.mit.edu	37	16	3779766	3779766	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:3779766G>C	ENST00000262367.5	-	31	6091	c.5282C>G	c.(5281-5283)tCa>tGa	p.S1761*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S1723*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1761	Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S1761*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGGCTCTTTGACTGTGGCTC	0.632			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		1	Substitution - Nonsense(1)	p.S1761*(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(5281-5283)tCa>tGa		CREB binding protein							34.0	34.0	34.0					16																	3779766		2197	4299	6496	SO:0001587	stop_gained	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3779766G>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5282C>G	16.37:g.3779766G>C	ENSP00000262367:p.Ser1761*					CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S1723*	p.S1761*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6091	-		Ovarian(90;0.0266)	1761			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.5282C>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	49	15.917632	0.99849	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	.	.	.	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.5175	19.0688	0.93123	0.0:0.0:1.0:0.0	.	.	.	.	X	1761;1791;1723;296	.	ENSP00000262367:S1761X	S	-	2	0	CREBBP	3719767	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.394000	0.97261	2.513000	0.84729	0.591000	0.81541	TCA		0.632	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		10	39	0	0	0	1	0	10	39				
C9orf84	158401	broad.mit.edu	37	9	114454229	114454229	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:114454229G>A	ENST00000318737.4	-	25	3964	c.3836C>T	c.(3835-3837)tCg>tTg	p.S1279L	C9orf84_ENST00000374287.3_Missense_Mutation_p.S1279L|C9orf84_ENST00000394779.3_Missense_Mutation_p.S1240L|C9orf84_ENST00000394777.4_Missense_Mutation_p.S1205L	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1279										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GATAGGGTCCGATACATCTTT	0.378																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(3718-3720)tCg>tTg		chromosome 9 open reading frame 84							62.0	60.0	61.0					9																	114454229		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114454229G>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3836C>T	9.37:g.114454229G>A	ENSP00000322108:p.Ser1279Leu					C9orf84_ENST00000394777.4_Missense_Mutation_p.S1205L|C9orf84_ENST00000318737.4_Missense_Mutation_p.S1279L|C9orf84_ENST00000374287.3_Missense_Mutation_p.S1279L	p.S1240L	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			23	3963	-			1279					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.3719C>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	3.786	-0.044630	0.07452	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.04970	3.52;3.53;3.52;3.52	5.15	0.844	0.18943	.	0.609642	0.14828	N	0.296049	T	0.03263	0.0095	N	0.24115	0.695	0.09310	N	1	P;B;P	0.39920	0.695;0.296;0.516	B;B;B	0.31751	0.08;0.058;0.135	T	0.41215	-0.9521	10	0.72032	D	0.01	-1.2596	2.99	0.05980	0.3231:0.0:0.4117:0.2652	.	1205;1279;1240	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	L	1240;1205;893;1279;1279	ENSP00000378259:S1240L;ENSP00000378257:S1205L;ENSP00000363405:S1279L;ENSP00000322108:S1279L	ENSP00000322108:S1279L	S	-	2	0	C9orf84	113494050	0.000000	0.05858	0.002000	0.10522	0.034000	0.12701	0.176000	0.16782	0.604000	0.29930	0.467000	0.42956	TCG		0.378	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		22	113	0	0	0	1	0	22	113				
IGLV5-45	28781	broad.mit.edu	37	22	22730636	22730636	+	RNA	SNP	G	G	A	rs149965450	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:22730636G>A	ENST00000390296.2	+	0	159									immunoglobulin lambda variable 5-45																		TGCACCTTGCGCAGTGGCATC	0.537																																						ENST00000390296.2																			0															G		3,4169		0,3,2083	86.0	96.0	93.0			3.1	0.0	22	dbSNP_134	93	12,8422		0,12,4205	no	intergenic				0,15,6288	AA,AG,GG		0.1423,0.0719,0.119			22730636	15,12591	2086	4217	6303			28781							g.chr22:22730636G>A	Z73670		22q11.2	2012-02-08			ENSG00000211650	ENSG00000211650		"""Immunoglobulins / IGL locus"""	5924	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151054		22.37:g.22730636G>A														0	159	+									RNA	SNP	ENST00000390296.2	37																																																																																						0.537	IGLV5-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321114.2	NG_000002		11	162	0	0	0	1	0	11	162				
ZNF558	148156	broad.mit.edu	37	19	8923829	8923829	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:8923829C>T	ENST00000601372.1	-	8	1028	c.317G>A	c.(316-318)aGa>aAa	p.R106K	ZNF558_ENST00000301475.1_Missense_Mutation_p.R106K|ZNF558_ENST00000444186.2_Missense_Mutation_p.R35K			Q96NG5	ZN558_HUMAN	zinc finger protein 558	106	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TAGAATTCCTCTTTCCTCTGT	0.463																																						ENST00000601372.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(316-318)aGa>aAa		zinc finger protein 558							208.0	167.0	181.0					19																	8923829		2203	4300	6503	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8923829C>T	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.317G>A	19.37:g.8923829C>T	ENSP00000471277:p.Arg106Lys					ZNF558_ENST00000444186.2_Missense_Mutation_p.R35K|ZNF558_ENST00000301475.1_Missense_Mutation_p.R106K	p.R106K			Q96NG5	ZN558_HUMAN			8	1028	-			106			KRAB.		A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.317G>A	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	C	4.270	0.049266	0.08243	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.07327	3.33;3.2	3.96	2.92	0.33932	Krueppel-associated box (1);	0.000000	0.37437	N	0.002090	T	0.04048	0.0113	N	0.20807	0.61	0.23396	N	0.997767	B	0.11235	0.004	B	0.06405	0.002	T	0.44757	-0.9307	10	0.05436	T	0.98	-13.5609	7.3129	0.26485	0.0:0.8817:0.0:0.1183	.	106	Q96NG5	ZN558_HUMAN	K	106;35	ENSP00000301475:R106K;ENSP00000410703:R35K	ENSP00000301475:R106K	R	-	2	0	ZNF558	8784829	0.000000	0.05858	0.141000	0.22245	0.013000	0.08279	-0.155000	0.10115	1.255000	0.44051	0.591000	0.81541	AGA		0.463	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		6	10	0	0	0	1	0	6	10				
INTS6	26512	broad.mit.edu	37	13	52026641	52026641	+	Silent	SNP	C	C	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr13:52026641C>A	ENST00000311234.4	-	1	493	c.21G>T	c.(19-21)ctG>ctT	p.L7L	INTS6-AS1_ENST00000434512.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6_ENST00000420668.2_Silent_p.L7L|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000594959.1_RNA|INTS6-AS1_ENST00000598905.1_RNA|INTS6_ENST00000398119.2_Intron|INTS6-AS1_ENST00000596180.1_RNA|INTS6_ENST00000442263.3_Silent_p.L7L|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6_ENST00000425000.1_5'UTR|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6_ENST00000463928.1_Silent_p.L7L|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6_ENST00000491723.1_5'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	7	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ACGTGTCTATCAGGAACAGTA	0.622																																						ENST00000311234.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(19-21)ctG>ctT		integrator complex subunit 6							90.0	75.0	80.0					13																	52026641		2203	4300	6503	SO:0001819	synonymous_variant	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:52026641C>A	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.21G>T	13.37:g.52026641C>A						INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000442263.3_Silent_p.L7L|INTS6_ENST00000491723.1_5'UTR|INTS6_ENST00000398119.2_Intron|INTS6_ENST00000463928.1_Silent_p.L7L|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000594959.1_RNA|INTS6_ENST00000420668.2_Silent_p.L7L	p.L7L	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	1	493	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	7			VWFA.		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Silent	SNP	ENST00000311234.4	37	c.21G>T	CCDS9428.1																																																																																				0.622	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		17	86	1	0	2.94398e-08	1	3.03286e-08	17	86				
WNT7A	7476	broad.mit.edu	37	3	13860852	13860852	+	Silent	SNP	C	C	G	rs566972494		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:13860852C>G	ENST00000285018.4	-	4	943	c.639G>C	c.(637-639)acG>acC	p.T213T		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	213					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGGTCCAGCACGTCTTGGTGG	0.607																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(637-639)acG>acC		wingless-type MMTV integration site family, member 7A							114.0	104.0	107.0					3																	13860852		2203	4300	6503	SO:0001819	synonymous_variant	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13860852C>G	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.639G>C	3.37:g.13860852C>G							p.T213T	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			4	943	-			213					Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	c.639G>C	CCDS2616.1																																																																																				0.607	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		18	96	0	0	0	1	0	18	96				
DSP	1832	broad.mit.edu	37	6	7562886	7562886	+	Splice_Site	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:7562886C>T	ENST00000379802.3	+	5	940	c.599C>T	c.(598-600)gCg>gTg	p.A200V	DSP_ENST00000418664.2_Splice_Site_p.A200V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	200	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGTCGCAGGCGGAGATGGAC	0.557																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.e5-1		desmoplakin							174.0	182.0	179.0					6																	7562886		2203	4300	6503	SO:0001630	splice_region_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7562886C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.598-1C>T	6.37:g.7562886C>T						DSP_ENST00000418664.2_Splice_Site_p.A200_splice	p.A200_splice	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	5	940	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	200			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Splice_Site	SNP	ENST00000379802.3	37	c.597_splice	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	9.766	1.171466	0.21621	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.92752	-3.1;-3.1	5.76	1.89	0.25635	.	0.202868	0.34484	N	0.003935	T	0.67988	0.2952	N	0.14661	0.345	0.28425	N	0.917561	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.57418	-0.7815	10	0.24483	T	0.36	.	8.3623	0.32365	0.1105:0.3992:0.4294:0.0609	.	247;200	Q4LE79;P15924	.;DESP_HUMAN	V	200;200;5	ENSP00000369129:A200V;ENSP00000396591:A200V	ENSP00000369129:A200V	A	+	2	0	DSP	7507885	0.567000	0.26626	0.965000	0.40720	0.019000	0.09904	0.544000	0.23253	0.049000	0.15920	-0.175000	0.13238	GCG		0.557	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	Missense_Mutation	46	164	0	0	0	1	0	46	164				
C7orf49	78996	broad.mit.edu	37	7	134853635	134853635	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:134853635G>A	ENST00000393114.3	-	2	221	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	C7orf49_ENST00000483029.2_Intron|C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000430372.1_5'UTR|C7orf49_ENST00000459937.1_5'UTR|RP11-134L10.1_ENST00000608819.1_RNA			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	14						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						AGCCATGAGGGAAGGACCCTC	0.502											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393114.3																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(40-42)Ccc>Tcc		chromosome 7 open reading frame 49							116.0	112.0	114.0					7																	134853635		2203	4300	6503	SO:0001583	missense	78996					cytoplasm		g.chr7:134853635G>A	BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.40C>T	7.37:g.134853635G>A	ENSP00000376823:p.Pro14Ser		OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1613	C7orf49_ENST00000459937.1_5'UTR|C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000430372.1_5'UTR|C7orf49_ENST00000483029.2_Intron	p.P14S			Q9BWK5	MRI_HUMAN			2	221	-			14					Q6NWZ4|Q6ZNR5	Missense_Mutation	SNP	ENST00000393114.3	37	c.40C>T	CCDS5838.2	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575186	0.65878	.	.	ENSG00000122783	ENST00000393114	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	T	0.65760	0.2722	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68618	-0.5361	8	0.87932	D	0	-10.9548	12.2281	0.54472	0.0:0.0:1.0:0.0	.	14	Q9BWK5	MRI_HUMAN	S	14	.	ENSP00000376823:P14S	P	-	1	0	C7orf49	134504175	0.997000	0.39634	0.708000	0.30435	0.672000	0.39443	4.635000	0.61332	2.258000	0.74832	0.407000	0.27541	CCC		0.502	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033		22	106	0	0	0	1	0	22	106				
CA5A	763	broad.mit.edu	37	16	87960549	87960549	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:87960549G>A	ENST00000309893.2	-	2	210	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	49					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	CAGAGTGGGTGCACTGCAGGG	0.632																																						ENST00000309893.2																			0				large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(145-147)Cac>Tac		carbonic anhydrase VA, mitochondrial							17.0	17.0	17.0					16																	87960549		2190	4296	6486	SO:0001583	missense	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87960549G>A	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.145C>T	16.37:g.87960549G>A	ENSP00000309649:p.His49Tyr					CA5A_ENST00000568801.1_5'UTR	p.H49Y	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	2	210	-			49					B2RPF2	Missense_Mutation	SNP	ENST00000309893.2	37	c.145C>T	CCDS10965.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712297	0.48517	.	.	ENSG00000174990	ENST00000309893	T	0.68479	-0.33	4.1	3.13	0.36017	Carbonic anhydrase, alpha-class, catalytic domain (3);	0.067067	0.64402	D	0.000014	T	0.81273	0.4788	M	0.85630	2.765	0.49130	D	0.999757	D	0.89917	1.0	D	0.67382	0.951	D	0.83624	0.0141	10	0.87932	D	0	-30.1034	12.744	0.57270	0.0:0.1666:0.8334:0.0	.	49	P35218	CAH5A_HUMAN	Y	49	ENSP00000309649:H49Y	ENSP00000309649:H49Y	H	-	1	0	CA5A	86518050	1.000000	0.71417	0.114000	0.21550	0.414000	0.31173	6.992000	0.76238	0.714000	0.32081	0.555000	0.69702	CAC		0.632	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		4	12	0	0	0	1	0	4	12				
RABGAP1	23637	broad.mit.edu	37	9	125751664	125751664	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:125751664G>C	ENST00000373647.4	+	5	813	c.679G>C	c.(679-681)Gag>Cag	p.E227Q		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	227	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGGAACTCCTGAGAGTGACTG	0.418																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(679-681)Gag>Cag		RAB GTPase activating protein 1							114.0	109.0	111.0					9																	125751664		2203	4300	6503	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125751664G>C	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.679G>C	9.37:g.125751664G>C	ENSP00000362751:p.Glu227Gln						p.E227Q	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			5	813	+			227			PID.		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.679G>C	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	G	34	5.395644	0.96009	.	.	ENSG00000011454	ENST00000373647;ENST00000317419;ENST00000426918	T	0.19532	2.14	5.45	5.45	0.79879	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	M	0.75447	2.3	0.80722	D	1	D;D	0.67145	0.972;0.996	P;D	0.78314	0.802;0.991	T	0.45920	-0.9228	10	0.51188	T	0.08	-20.3863	19.2731	0.94018	0.0:0.0:1.0:0.0	.	227;227	Q9Y3P9;Q9Y3P9-4	RBGP1_HUMAN;.	Q	227;227;58	ENSP00000362751:E227Q	ENSP00000324973:E227Q	E	+	1	0	RABGAP1	124791485	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.857000	0.99534	2.553000	0.86117	0.484000	0.47621	GAG		0.418	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		37	150	0	0	0	1	0	37	150				
AHNAK	79026	broad.mit.edu	37	11	62291749	62291749	+	Silent	SNP	T	T	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:62291749T>A	ENST00000378024.4	-	5	10414	c.10140A>T	c.(10138-10140)atA>atT	p.I3380I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3380					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGACCTGTTATGTCAATAT	0.378																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10138-10140)atA>atT		AHNAK nucleoprotein							66.0	67.0	67.0					11																	62291749		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62291749T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10140A>T	11.37:g.62291749T>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.I3380I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10414	-		Melanoma(852;0.155)	3380					A1A586	Silent	SNP	ENST00000378024.4	37	c.10140A>T	CCDS31584.1																																																																																				0.378	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		30	119	0	0	0	1	0	30	119				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	41	0	0	0	1	0	3	41				
UTRN	7402	broad.mit.edu	37	6	145095469	145095469	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:145095469C>T	ENST00000367545.3	+	59	8601	c.8601C>T	c.(8599-8601)atC>atT	p.I2867I	UTRN_ENST00000367526.4_Silent_p.I422I	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2867	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTACAGCAATCAAAATCCGAA	0.308																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8599-8601)atC>atT		utrophin							106.0	103.0	104.0					6																	145095469		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145095469C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8601C>T	6.37:g.145095469C>T						UTRN_ENST00000367526.4_Silent_p.I422I	p.I2867I	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	59	8601	+		Ovarian(120;0.218)	2867			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.8601C>T	CCDS34547.1																																																																																				0.308	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			16	53	0	0	0	1	0	16	53				
LRBA	987	broad.mit.edu	37	4	151246980	151246980	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:151246980C>G	ENST00000357115.3	-	50	7709	c.7466G>C	c.(7465-7467)aGa>aCa	p.R2489T	LRBA_ENST00000507224.1_Missense_Mutation_p.R2478T|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Missense_Mutation_p.R2478T|LRBA_ENST00000510413.1_Missense_Mutation_p.R2478T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2489	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGCAGAACCTCTGGGAGGATG	0.458																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7432-7434)aGa>aCa		LPS-responsive vesicle trafficking, beach and anchor containing							111.0	103.0	106.0					4																	151246980		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151246980C>G	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7466G>C	4.37:g.151246980C>G	ENSP00000349629:p.Arg2489Thr					LRBA_ENST00000357115.3_Missense_Mutation_p.R2489T|LRBA_ENST00000507224.1_Missense_Mutation_p.R2478T|LRBA_ENST00000510413.1_Missense_Mutation_p.R2478T|LRBA_ENST00000503716.1_5'UTR	p.R2478T			P50851	LRBA_HUMAN			49	7906	-	all_hematologic(180;0.151)		2489			BEACH.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.7433G>C	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.003859|5.003859	0.93287|0.93287	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.73681	.|-0.77;-0.77;-0.77;-0.77	5.93|5.93	5.93|5.93	0.95920|0.95920	.|BEACH domain (4);	.|0.121721	.|0.53938	.|D	.|0.000045	D|D	0.92734|0.92734	0.7690|0.7690	H|H	0.98769|0.98769	4.325|4.325	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.995;0.999	.|D;D;D;D	.|0.87578	.|0.998;0.983;0.982;0.985	D|D	0.94922|0.94922	0.8074|0.8074	5|10	.|0.87932	.|D	.|0	.|.	20.3539|20.3539	0.98825|0.98825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2489;2478;2478;379	.|P50851;F5H1X8;P50851-2;Q68D03	.|LRBA_HUMAN;.;.;.	Q|T	1131|2478;2478;2489;2478	.|ENSP00000446299:R2478T;ENSP00000421552:R2478T;ENSP00000349629:R2489T;ENSP00000422180:R2478T	.|ENSP00000349629:R2489T	E|R	-|-	1|2	0|0	LRBA|LRBA	151466430|151466430	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.770000|7.770000	0.85390|0.85390	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.458	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			6	35	0	0	0	1	0	6	35				
ZFP90	146198	broad.mit.edu	37	16	68598390	68598390	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:68598390C>T	ENST00000570495.1	+	5	1992	c.1700C>T	c.(1699-1701)tCt>tTt	p.S567F	ZFP90_ENST00000563169.2_Missense_Mutation_p.S567F|ZFP90_ENST00000398253.2_Missense_Mutation_p.S567F			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	567					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CAAAGTTCATCTCTCATTCAG	0.433																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1699-1701)tCt>tTt		ZFP90 zinc finger protein							92.0	105.0	101.0					16																	68598390		2191	4298	6489	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598390C>T	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1700C>T	16.37:g.68598390C>T	ENSP00000460547:p.Ser567Phe					RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.S567F|ZFP90_ENST00000563169.2_Missense_Mutation_p.S567F	p.S567F			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1992	+		Ovarian(137;0.192)	567					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.1700C>T	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.128891	0.37533	.	.	ENSG00000184939	ENST00000398253	T	0.16073	2.37	5.97	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24967	0.0606	M	0.64997	1.995	0.19945	N	0.999945	P	0.51791	0.948	P	0.50537	0.643	T	0.21586	-1.0241	9	0.51188	T	0.08	-9.3758	6.3724	0.21489	0.2211:0.6874:0.0:0.0915	.	567	Q8TF47	ZFP90_HUMAN	F	567	ENSP00000381304:S567F	ENSP00000381304:S567F	S	+	2	0	ZFP90	67155891	0.000000	0.05858	1.000000	0.80357	0.896000	0.52359	-1.562000	0.02156	2.838000	0.97847	0.561000	0.74099	TCT		0.433	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		53	145	0	0	0	1	0	53	145				
RRS1	23212	broad.mit.edu	37	8	67341423	67341423	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr8:67341423G>C	ENST00000320270.2	+	1	161	c.57G>C	c.(55-57)gaG>gaC	p.E19D	RP11-346I3.4_ENST00000499642.1_lincRNA	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	19					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			ACGAGGCAGAGAAGTTGCAAC	0.652											OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000320270.2																			0				kidney(2)|lung(2)	4						c.(55-57)gaG>gaC		RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)							68.0	56.0	60.0					8																	67341423		2201	4300	6501	SO:0001583	missense	23212				mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus		g.chr8:67341423G>C	BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.57G>C	8.37:g.67341423G>C	ENSP00000322396:p.Glu19Asp		OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1098		p.E19D	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		1	161	+		Lung NSC(129;0.197)	19					Q9BUX8	Missense_Mutation	SNP	ENST00000320270.2	37	c.57G>C	CCDS6189.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728937	0.48833	.	.	ENSG00000179041	ENST00000320270	T	0.26660	1.72	6.16	4.2	0.49525	.	0.047203	0.85682	N	0.000000	T	0.17450	0.0419	L	0.31371	0.925	0.47778	D	0.999513	P	0.43885	0.82	B	0.40982	0.345	T	0.03354	-1.1045	10	0.32370	T	0.25	-35.0093	7.318	0.26511	0.1558:0.1368:0.7074:0.0	.	19	Q15050	RRS1_HUMAN	D	19	ENSP00000322396:E19D	ENSP00000322396:E19D	E	+	3	2	RRS1	67503977	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.660000	0.37397	0.785000	0.33685	0.650000	0.86243	GAG		0.652	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380126.1	NM_015169		15	47	0	0	0	1	0	15	47				
LZTR1	8216	broad.mit.edu	37	22	21349277	21349277	+	Missense_Mutation	SNP	C	C	T	rs148677674	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:21349277C>T	ENST00000215739.8	+	16	2263	c.1904C>T	c.(1903-1905)cCg>cTg	p.P635L	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.P616L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	635					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAGCAGCAGCCGCCCCCTCGC	0.607													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16639	0.0		0.0	False		,,,				2504	0.0					ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1903-1905)cCg>cTg		leucine-zipper-like transcription regulator 1		C	LEU/PRO	9,4397	14.3+/-33.2	0,9,2194	56.0	56.0	56.0		1904	5.3	0.9	22	dbSNP_134	56	0,8598		0,0,4299	yes	missense	LZTR1	NM_006767.3	98	0,9,6493	TT,TC,CC		0.0,0.2043,0.0692	probably-damaging	635/841	21349277	9,12995	2203	4299	6502	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21349277C>T	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1904C>T	22.37:g.21349277C>T	ENSP00000215739:p.Pro635Leu					LZTR1_ENST00000389355.3_Missense_Mutation_p.P616L|LZTR1_ENST00000479606.1_3'UTR	p.P635L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		16	2263	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	635					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.1904C>T	CCDS33606.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	c	16.46	3.128212	0.56721	0.002043	0.0	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.58652	0.73;0.32	5.28	5.28	0.74379	.	0.052100	0.85682	D	0.000000	T	0.73916	0.3648	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	0.992;0.999;1.0	P;P;D	0.87578	0.644;0.886;0.998	T	0.76567	-0.2912	10	0.87932	D	0	-11.8609	16.404	0.83652	0.0:1.0:0.0:0.0	.	616;635;594	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	L	594;635;616	ENSP00000215739:P635L;ENSP00000374006:P616L	ENSP00000215739:P635L	P	+	2	0	LZTR1	19679277	1.000000	0.71417	0.944000	0.38274	0.414000	0.31173	6.090000	0.71397	2.456000	0.83038	0.556000	0.70494	CCG		0.607	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		26	80	0	0	0	1	0	26	80				
TNK1	8711	broad.mit.edu	37	17	7286819	7286819	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:7286819G>C	ENST00000576812.1	+	4	679	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	TNK1_ENST00000311668.2_Missense_Mutation_p.E104Q|TNK1_ENST00000570896.1_Missense_Mutation_p.E104Q	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CCCTGAGCCAGAGGGGGGCCT	0.632																																						ENST00000570896.1																			0				central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16						c.(310-312)Gag>Cag		tyrosine kinase, non-receptor, 1							30.0	36.0	34.0					17																	7286819		2032	4189	6221	SO:0001583	missense	8711				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chr17:7286819G>C	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.310G>C	17.37:g.7286819G>C	ENSP00000459799:p.Glu104Gln					TNK1_ENST00000576812.1_Missense_Mutation_p.E104Q|TNK1_ENST00000311668.2_Missense_Mutation_p.E104Q	p.E104Q			Q13470	TNK1_HUMAN			5	756	+		Prostate(122;0.157)	104						Missense_Mutation	SNP	ENST00000576812.1	37	c.310G>C	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071283	0.55646	.	.	ENSG00000174292	ENST00000311668	T	0.76448	-1.02	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.133578	0.34507	N	0.003902	T	0.67664	0.2917	L	0.29908	0.895	0.33902	D	0.638679	P;P	0.38223	0.623;0.489	B;B	0.40444	0.329;0.177	T	0.71104	-0.4689	10	0.14252	T	0.57	.	13.9358	0.64023	0.0:0.0:1.0:0.0	.	104;104	Q13470-2;Q13470	.;TNK1_HUMAN	Q	104	ENSP00000312309:E104Q	ENSP00000312309:E104Q	E	+	1	0	TNK1	7227543	0.999000	0.42202	0.566000	0.28421	0.973000	0.67179	6.891000	0.75639	2.425000	0.82216	0.637000	0.83480	GAG		0.632	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		7	22	0	0	0	1	0	7	22				
FRY	10129	broad.mit.edu	37	13	32849050	32849050	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr13:32849050C>T	ENST00000380250.3	+	56	8704	c.8208C>T	c.(8206-8208)atC>atT	p.I2736I	FRY_ENST00000542859.1_Silent_p.I106I	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2736						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCGGGGAATCGGATCCAAAT	0.468																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(8206-8208)atC>atT		furry homolog (Drosophila)							107.0	107.0	107.0					13																	32849050		1923	4129	6052	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32849050C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8208C>T	13.37:g.32849050C>T						FRY_ENST00000542859.1_Silent_p.I106I	p.I2736I	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	56	8704	+		Lung SC(185;0.0271)	2736					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.8208C>T	CCDS41875.1																																																																																				0.468	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		37	114	0	0	0	1	0	37	114				
DUSP18	150290	broad.mit.edu	37	22	31059759	31059759	+	Missense_Mutation	SNP	G	G	A	rs199672327		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:31059759G>A	ENST00000334679.3	-	2	737	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	DUSP18_ENST00000404885.1_Missense_Mutation_p.R78C|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.R78C|DUSP18_ENST00000403268.1_Intron	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	78					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						TCACAGAGACGTGAGTTAGGG	0.522																																						ENST00000334679.3																			0				large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						c.(232-234)Cgt>Tgt		dual specificity phosphatase 18		G	CYS/ARG	0,4406		0,0,2203	251.0	186.0	208.0		232	0.7	0.0	22		208	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DUSP18	NM_152511.3	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	78/189	31059759	2,13004	2203	4300	6503	SO:0001583	missense	150290					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:31059759G>A	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.232C>T	22.37:g.31059759G>A	ENSP00000333917:p.Arg78Cys					DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000403268.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.R78C|DUSP18_ENST00000404885.1_Missense_Mutation_p.R78C	p.R78C	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN			2	737	-			78					B3KPA4	Missense_Mutation	SNP	ENST00000334679.3	37	c.232C>T	CCDS13883.1	.	.	.	.	.	.	.	.	.	.	G	4.404	0.074703	0.08485	0.0	2.33E-4	ENSG00000167065	ENST00000404885;ENST00000407308;ENST00000334679;ENST00000342474	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.19	0.658	0.17855	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.456730	0.24485	N	0.038119	T	0.41442	0.1159	L	0.42581	1.335	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.24512	-1.0158	10	0.44086	T	0.13	.	3.6971	0.08368	0.2906:0.0:0.437:0.2724	.	78	Q8NEJ0	DUS18_HUMAN	C	78	ENSP00000385463:R78C;ENSP00000386063:R78C;ENSP00000333917:R78C;ENSP00000340795:R78C	ENSP00000333917:R78C	R	-	1	0	DUSP18	29389759	0.253000	0.23982	0.000000	0.03702	0.037000	0.13140	3.195000	0.51013	-0.031000	0.13781	-0.169000	0.13324	CGT		0.522	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1			28	102	0	0	0	1	0	28	102				
FOXA1	3169	broad.mit.edu	37	14	38061414	38061414	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr14:38061414G>A	ENST00000250448.2	-	2	636	c.575C>T	c.(574-576)aCg>aTg	p.T192M	FOXA1_ENST00000540786.1_Missense_Mutation_p.T159M|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	192					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTCGCTCAGCGTGAGCATCTT	0.597																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(574-576)aCg>aTg		forkhead box A1							107.0	97.0	100.0					14																	38061414		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061414G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.575C>T	14.37:g.38061414G>A	ENSP00000250448:p.Thr192Met					FOXA1_ENST00000540786.1_Missense_Mutation_p.T159M|FOXA1_ENST00000545425.2_5'UTR	p.T192M	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	636	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		192					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.575C>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393342	0.83011	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.96300	-3.97;-3.97	4.1	4.1	0.47936	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98729	0.9573	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99521	1.0958	10	0.87932	D	0	.	15.2445	0.73497	0.0:0.0:1.0:0.0	.	192	P55317	FOXA1_HUMAN	M	192;159	ENSP00000250448:T192M;ENSP00000440178:T159M	ENSP00000250448:T192M	T	-	2	0	FOXA1	37131165	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.564000	0.98151	2.115000	0.64714	0.400000	0.26472	ACG		0.597	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			6	147	0	0	0	1	0	6	147				
ACOT6	641372	broad.mit.edu	37	14	74086219	74086219	+	Silent	SNP	G	G	A	rs374083296		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr14:74086219G>A	ENST00000381139.1	+	2	631	c.300G>A	c.(298-300)gcG>gcA	p.A100A	RP3-414A15.10_ENST00000555500.1_RNA|RP3-414A15.10_ENST00000555011.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	100						cytosol (GO:0005829)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TGGAAAAGGCGCAGGTGCCCT	0.428																																						ENST00000381139.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(298-300)gcG>gcA		acyl-CoA thioesterase 6		G		0,4406		0,0,2203	82.0	80.0	81.0		300	-0.1	1.0	14		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACOT6	NM_001037162.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		100/208	74086219	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	641372					cytosol	carboxylesterase activity	g.chr14:74086219G>A	DQ082756, BF109853	CCDS32118.1	14q24.3	2011-02-16			ENSG00000205669	ENSG00000205669		"""Acyl CoA thioesterases"""	33159	protein-coding gene	gene with protein product		614267	"""chromosome 14 open reading frame 42"""	C14orf42		16940157	Standard	NM_001037162		Approved		uc001xop.3	Q3I5F7		ENST00000381139.1:c.300G>A	14.37:g.74086219G>A						RP3-414A15.10_ENST00000555011.1_RNA	p.A100A	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	2	631	+			100						Silent	SNP	ENST00000381139.1	37	c.300G>A	CCDS32118.1																																																																																				0.428	ACOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414437.1	NM_001037162		4	141	0	0	0	1	0	4	141				
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:534285C>A	ENST00000451590.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000417302.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		25	Substitution - Missense(24)|Insertion - In frame(1)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)	upper_aerodigestive_tract(9)|thyroid(5)|urinary_tract(5)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM053285	HRAS	M	rs104894226	c.(37-39)gGt>gTt		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						89.0	83.0	85.0					11																	534285		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534285C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.38G>T	11.37:g.534285C>A	ENSP00000407586:p.Gly13Val	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V	p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	225	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> C (in FCSS).|G -> D (in FCSS).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.38G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344392	0.61073	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	H	0.94264	3.515	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.69824	0.943;0.966	D	0.92025	0.5629	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	V	13	ENSP00000380722:G13V;ENSP00000380723:G13V;ENSP00000407586:G13V;ENSP00000388246:G13V;ENSP00000309845:G13V	ENSP00000309845:G13V	G	-	2	0	HRAS	524285	1.000000	0.71417	0.470000	0.27216	0.232000	0.25224	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		26	53	1	0	2.41591e-17	1	2.58645e-17	26	53				
ADD2	119	broad.mit.edu	37	2	70917937	70917937	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:70917937C>T	ENST00000264436.4	-	8	1274	c.830G>A	c.(829-831)tGc>tAc	p.C277Y	ADD2_ENST00000355733.3_Missense_Mutation_p.C277Y|ADD2_ENST00000413157.2_Missense_Mutation_p.C277Y|ADD2_ENST00000430656.1_Missense_Mutation_p.C293Y|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000407644.2_Missense_Mutation_p.C277Y	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	277					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGGTCCAAGGCACTTCTGCAG	0.498																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(829-831)tGc>tAc		adducin 2 (beta)							104.0	94.0	98.0					2																	70917937		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70917937C>T	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.830G>A	2.37:g.70917937C>T	ENSP00000264436:p.Cys277Tyr					ADD2_ENST00000413157.2_Missense_Mutation_p.C277Y|ADD2_ENST00000407644.2_Missense_Mutation_p.C277Y|ADD2_ENST00000430656.1_Missense_Mutation_p.C293Y|ADD2_ENST00000355733.3_Missense_Mutation_p.C277Y|AC007395.3_ENST00000457851.1_RNA	p.C277Y	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			8	1274	-			277					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.830G>A	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969975	0.74246	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.43	5.43	0.79202	Class II aldolase/adducin, N-terminal (3);	0.045450	0.85682	D	0.000000	T	0.31104	0.0786	N	0.22421	0.69	0.44136	D	0.996929	D;B;P;D	0.67145	0.984;0.42;0.647;0.996	P;B;B;P	0.62014	0.845;0.06;0.219;0.897	T	0.02574	-1.1139	10	0.62326	D	0.03	-22.902	16.7875	0.85577	0.0:1.0:0.0:0.0	.	293;277;277;277	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	Y	277;277;277;277;277;277;293	ENSP00000264436:C277Y;ENSP00000384677:C277Y;ENSP00000347972:C277Y;ENSP00000388072:C277Y;ENSP00000398112:C293Y	ENSP00000264436:C277Y	C	-	2	0	ADD2	70771445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.513000	0.45494	2.823000	0.97156	0.650000	0.86243	TGC		0.498	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		4	73	0	0	0	1	0	4	73				
CALB2	794	broad.mit.edu	37	16	71417890	71417890	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:71417890G>C	ENST00000302628.4	+	7	572	c.495G>C	c.(493-495)ttG>ttC	p.L165F	CALB2_ENST00000349553.5_Missense_Mutation_p.L165F	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	165	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L165L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TGTTTGACTTGAACGGGGATG	0.532																																						ENST00000302628.4																			1	Substitution - coding silent(1)	p.L165L(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(493-495)ttG>ttC		calbindin 2							199.0	177.0	185.0					16																	71417890		2198	4300	6498	SO:0001583	missense	794						calcium ion binding	g.chr16:71417890G>C	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.495G>C	16.37:g.71417890G>C	ENSP00000307508:p.Leu165Phe					CALB2_ENST00000349553.5_Missense_Mutation_p.L165F	p.L165F	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN			7	572	+		Ovarian(137;0.125)	165			EF-hand 4.		A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	ENST00000302628.4	37	c.495G>C	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	-	14.12	2.440078	0.43326	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	T;T	0.73363	-0.74;-0.74	5.63	0.533	0.17121	EF-hand-like domain (1);	0.067302	0.64402	D	0.000011	T	0.69788	0.3150	L	0.54323	1.7	0.43569	D	0.995895	B;B	0.29552	0.026;0.248	B;B	0.38655	0.056;0.278	T	0.64080	-0.6491	10	0.48119	T	0.1	-15.1219	9.0817	0.36556	0.446:0.0:0.554:0.0	.	165;165	A6NER6;P22676	.;CALB2_HUMAN	F	165	ENSP00000340294:L165F;ENSP00000307508:L165F	ENSP00000307508:L165F	L	+	3	2	CALB2	69975391	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	1.372000	0.34261	0.118000	0.18165	-0.152000	0.13540	TTG		0.532	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		32	116	0	0	0	1	0	32	116				
RSRC2	65117	broad.mit.edu	37	12	122990163	122990163	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:122990163G>C	ENST00000331738.7	-	10	1361	c.1216C>G	c.(1216-1218)Cag>Gag	p.Q406E	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Missense_Mutation_p.Q358E	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	406							poly(A) RNA binding (GO:0044822)	p.Q406*(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		ATTTCATACTGAGCATCTAAA	0.393																																						ENST00000331738.7																			2	Substitution - Nonsense(2)	p.Q406*(2)	lung(2)	breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24						c.(1216-1218)Cag>Gag		arginine/serine-rich coiled-coil 2							184.0	154.0	164.0					12																	122990163		2203	4300	6503	SO:0001583	missense	65117							g.chr12:122990163G>C	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.1216C>G	12.37:g.122990163G>C	ENSP00000330188:p.Gln406Glu					RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Missense_Mutation_p.Q358E	p.Q406E	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	10	1361	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		406					Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.1216C>G	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202478	0.38905	.	.	ENSG00000111011	ENST00000331738;ENST00000354654	T;T	0.63580	-0.05;0.01	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	L	0.51914	1.62	0.80722	D	1	P;P;P	0.43578	0.811;0.811;0.593	P;P;P	0.54924	0.764;0.764;0.764	T	0.71803	-0.4482	10	0.62326	D	0.03	.	20.6396	0.99537	0.0:0.0:1.0:0.0	.	358;406;175	Q7L4I2-2;Q7L4I2;B3KMH4	.;RSRC2_HUMAN;.	E	406;358	ENSP00000330188:Q406E;ENSP00000346678:Q358E	ENSP00000330188:Q406E	Q	-	1	0	RSRC2	121556116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.881000	0.98747	0.650000	0.86243	CAG		0.393	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		36	100	0	0	0	1	0	36	100				
ENPP7	339221	broad.mit.edu	37	17	77709258	77709258	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:77709258C>T	ENST00000328313.5	+	3	1037	c.816C>T	c.(814-816)gaC>gaT	p.D272D		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTTCCGGGACATCGAGTTTG	0.572																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(814-816)gaC>gaT		ectonucleotide pyrophosphatase/phosphodiesterase 7							129.0	96.0	107.0					17																	77709258		2203	4300	6503	SO:0001819	synonymous_variant	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709258C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.816C>T	17.37:g.77709258C>T							p.D272D	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	1037	+			272						Silent	SNP	ENST00000328313.5	37	c.816C>T	CCDS11763.1																																																																																				0.572	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		32	95	0	0	0	1	0	32	95				
HENMT1	113802	broad.mit.edu	37	1	109191450	109191450	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:109191450G>C	ENST00000370032.5	-	8	1340	c.920C>G	c.(919-921)tCa>tGa	p.S307*	HENMT1_ENST00000493676.1_5'Flank|HENMT1_ENST00000370031.1_Nonsense_Mutation_p.S338*|HENMT1_ENST00000402983.1_Nonsense_Mutation_p.S307*	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	307					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.G306_P310delGSKAP(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						AGGGGCCTTTGAGCCACCAAT	0.517																																						ENST00000370032.5																			1	Deletion - In frame(1)	p.G306_P310delGSKAP(1)	stomach(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						c.(919-921)tCa>tGa		HEN1 methyltransferase homolog 1 (Arabidopsis)							105.0	96.0	99.0					1																	109191450		2203	4300	6503	SO:0001587	stop_gained	113802				gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	g.chr1:109191450G>C		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.920C>G	1.37:g.109191450G>C	ENSP00000359049:p.Ser307*					HENMT1_ENST00000370031.1_Nonsense_Mutation_p.S338*|HENMT1_ENST00000402983.1_Nonsense_Mutation_p.S307*	p.S307*	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN			8	1340	-			307					A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Nonsense_Mutation	SNP	ENST00000370032.5	37	c.920C>G	CCDS787.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108490	0.37242	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	.	.	.	3.88	-4.39	0.03611	.	4.479430	0.00397	N	0.000042	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-3.8163	2.145	0.03785	0.1932:0.4048:0.2495:0.1524	.	.	.	.	X	307;338;307;307	.	ENSP00000359048:S338X	S	-	2	0	HENMT1	108992973	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.671000	0.25172	-0.596000	0.05821	-0.291000	0.09656	TCA		0.517	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		21	73	0	0	0	1	0	21	73				
SPHKAP	80309	broad.mit.edu	37	2	228882732	228882732	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:228882732C>T	ENST00000392056.3	-	7	2884	c.2838G>A	c.(2836-2838)gcG>gcA	p.A946A	SPHKAP_ENST00000344657.5_Silent_p.A946A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	946	PKA-RII subunit binding domain. {ECO:0000250}.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAAGGCAAATCGCTGCAATTT	0.473																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2836-2838)gcG>gcA		SPHK1 interactor, AKAP domain containing							141.0	127.0	131.0					2																	228882732		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228882732C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2838G>A	2.37:g.228882732C>T						SPHKAP_ENST00000344657.5_Silent_p.A946A	p.A946A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2884	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	946			PKA-RII subunit binding domain (By similarity).		Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.2838G>A	CCDS46537.1																																																																																				0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		4	164	0	0	0	1	0	4	164				
ADAMTS4	9507	broad.mit.edu	37	1	161163759	161163759	+	Missense_Mutation	SNP	C	C	T	rs559950580	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:161163759C>T	ENST00000367996.5	-	5	1942	c.1514G>A	c.(1513-1515)cGc>cAc	p.R505H	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	505	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GTGGAGGCAGCGACCACCCAT	0.652													C|||	3	0.000599042	0.0	0.0	5008	,	,		14896	0.0		0.0	False		,,,				2504	0.0031					ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(1513-1515)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 4							29.0	31.0	31.0					1																	161163759		2201	4298	6499	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161163759C>T	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1514G>A	1.37:g.161163759C>T	ENSP00000356975:p.Arg505His						p.R505H	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		5	1942	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		505			Disintegrin.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.1514G>A	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653503	0.29425	.	.	ENSG00000158859	ENST00000367996	T	0.62364	0.03	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000005	T	0.28896	0.0717	N	0.26042	0.785	0.80722	D	1	B	0.24368	0.102	B	0.09377	0.004	T	0.10636	-1.0621	10	0.15066	T	0.55	.	12.0862	0.53698	0.0:0.9184:0.0:0.0816	.	505	O75173	ATS4_HUMAN	H	505	ENSP00000356975:R505H	ENSP00000356975:R505H	R	-	2	0	ADAMTS4	159430383	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.240000	0.18042	2.815000	0.96918	0.561000	0.74099	CGC		0.652	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		10	57	0	0	0	1	0	10	57				
ASB10	136371	broad.mit.edu	37	7	150878259	150878259	+	Missense_Mutation	SNP	C	C	T	rs371002840		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:150878259C>T	ENST00000420175.2	-	3	895	c.871G>A	c.(871-873)Gac>Aac	p.D291N	ASB10_ENST00000377867.3_Missense_Mutation_p.D276N|ASB10_ENST00000434669.1_Missense_Mutation_p.D336N|ASB10_ENST00000275838.1_Missense_Mutation_p.D291N|ASB10_ENST00000422024.1_Missense_Mutation_p.D336N			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	291					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGTCCTGGTCCGCAGCATCA	0.667																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(1006-1008)Gac>Aac		ankyrin repeat and SOCS box containing 10		C	ASN/ASP,ASN/ASP,ASN/ASP	1,4401		0,1,2200	29.0	28.0	28.0		871,871,826	4.4	0.7	7		28	1,8589		0,1,4294	no	missense,missense,missense	ASB10	NM_001142459.1,NM_001142460.1,NM_080871.3	23,23,23	0,2,6494	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	291/468,291/430,276/453	150878259	2,12990	2201	4295	6496	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150878259C>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.871G>A	7.37:g.150878259C>T	ENSP00000391137:p.Asp291Asn					ASB10_ENST00000275838.1_Missense_Mutation_p.D291N|ASB10_ENST00000434669.1_Missense_Mutation_p.D336N|ASB10_ENST00000377867.3_Missense_Mutation_p.D276N|ASB10_ENST00000420175.2_Missense_Mutation_p.D291N	p.D336N	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1131	-			291					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.1006G>A	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506629	0.44558	2.27E-4	1.16E-4	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.29	4.4	0.53042	Ankyrin repeat-containing domain (4);	0.049667	0.85682	N	0.000000	T	0.46328	0.1387	L	0.39898	1.24	0.51233	D	0.999912	B;B;B	0.23442	0.04;0.085;0.012	B;B;B	0.31686	0.039;0.134;0.016	T	0.39800	-0.9596	10	0.38643	T	0.18	-8.9701	12.4397	0.55617	0.0:0.9175:0.0:0.0825	.	276;291;336	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	N	291;276;336;336;291	ENSP00000275838:D291N;ENSP00000367098:D276N;ENSP00000401369:D336N;ENSP00000398247:D336N;ENSP00000391137:D291N	ENSP00000275838:D291N	D	-	1	0	ASB10	150509192	0.991000	0.36638	0.739000	0.30968	0.373000	0.29922	2.958000	0.49145	1.331000	0.45412	0.591000	0.81541	GAC		0.667	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		8	39	0	0	0	1	0	8	39				
ARCN1	372	broad.mit.edu	37	11	118461072	118461072	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:118461072G>A	ENST00000264028.4	+	6	930	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	ARCN1_ENST00000392859.3_Missense_Mutation_p.E191K|ARCN1_ENST00000359415.4_Missense_Mutation_p.E320K|ARCN1_ENST00000534182.2_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	279	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TATGAAGATTGAAGAAAAGAT	0.428																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(958-960)Gaa>Aaa		archain 1							94.0	83.0	87.0					11																	118461072		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118461072G>A	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.835G>A	11.37:g.118461072G>A	ENSP00000264028:p.Glu279Lys					ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.E191K|ARCN1_ENST00000264028.4_Missense_Mutation_p.E279K	p.E320K			P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	7	1123	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	279			MHD.		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.958G>A	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	G	35	5.558637	0.96514	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.20332	2.08;2.08;2.08	5.86	5.86	0.93980	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	M	0.64676	1.99	0.80722	D	1	D;P;P	0.57257	0.979;0.872;0.91	P;P;P	0.60949	0.881;0.759;0.607	T	0.01238	-1.1409	10	0.27082	T	0.32	-9.2193	20.1581	0.98126	0.0:0.0:1.0:0.0	.	191;320;279	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	K	191;320;279	ENSP00000376599:E191K;ENSP00000352385:E320K;ENSP00000264028:E279K	ENSP00000264028:E279K	E	+	1	0	ARCN1	117966282	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.992000	0.93519	2.937000	0.99478	0.650000	0.86243	GAA		0.428	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			17	58	0	0	0	1	0	17	58				
ZNF692	55657	broad.mit.edu	37	1	249152243	249152243	+	Intron	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:249152243G>A	ENST00000306601.4	-	2	346				ZNF692_ENST00000366471.3_Intron|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000391820.3_Silent_p.F67F|ZNF692_ENST00000451251.1_Intron|ZNF692_ENST00000468455.1_5'Flank|ZNF692_ENST00000366469.5_Intron|ZNF692_ENST00000427146.1_Intron	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCTGAGGGTGGAAAAGAGCAG	0.627																																						ENST00000391820.3																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(199-201)ttC>ttT		zinc finger protein 692																																				SO:0001627	intron_variant	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249152243G>A	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.179+86C>T	1.37:g.249152243G>A						ZNF692_ENST00000427146.1_Intron|ZNF692_ENST00000366469.5_Intron|ZNF692_ENST00000451251.1_Intron|ZNF692_ENST00000306601.4_Intron|ZNF692_ENST00000366471.3_Intron	p.F67F			Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		3	367	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	60					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Silent	SNP	ENST00000306601.4	37	c.201C>T	CCDS31127.1																																																																																				0.627	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		4	9	0	0	0	1	0	4	9				
GCN1L1	10985	broad.mit.edu	37	12	120611884	120611884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:120611884G>A	ENST00000300648.6	-	13	1195	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*	AC004812.1_ENST00000582675.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	395					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)					CCTTCCTGCTGAAGGAACGGG	0.512																																						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.(1183-1185)Cag>Tag		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							104.0	105.0	105.0					12																	120611884		2127	4241	6368	SO:0001587	stop_gained	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120611884G>A	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.1183C>T	12.37:g.120611884G>A	ENSP00000300648:p.Gln395*						p.Q395*	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			13	1195	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		395					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Nonsense_Mutation	SNP	ENST00000300648.6	37	c.1183C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	37	6.294991	0.97449	.	.	ENSG00000089154	ENST00000300648	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	18.0267	0.89271	0.0:0.0:1.0:0.0	.	.	.	.	X	395	.	ENSP00000300648:Q395X	Q	-	1	0	GCN1L1	119096267	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.936000	0.92931	2.242000	0.73789	0.563000	0.77884	CAG		0.512	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			5	25	0	0	0	1	0	5	25				
TGIF1	7050	broad.mit.edu	37	18	3452158	3452158	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr18:3452158C>A	ENST00000330513.5	+	1	484	c.181C>A	c.(181-183)Ccc>Acc	p.P61T	TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000400167.2_5'Flank|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000577543.1_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	61					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GGCCTACCTTCCCCCAGCGCC	0.721																																						ENST00000330513.5																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(181-183)Ccc>Acc		TGFB-induced factor homeobox 1							44.0	47.0	46.0					18																	3452158		2202	4300	6502	SO:0001583	missense	7050				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr18:3452158C>A	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.181C>A	18.37:g.3452158C>A	ENSP00000327959:p.Pro61Thr					TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000345133.5_Intron	p.P61T	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN			1	484	+	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)	61					A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	ENST00000330513.5	37	c.181C>A	CCDS11834.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610995	0.46631	.	.	ENSG00000177426	ENST00000330513	T	0.71103	-0.54	3.22	-1.35	0.09114	.	.	.	.	.	T	0.50120	0.1597	N	0.22421	0.69	0.09310	N	0.999994	B	0.06786	0.001	B	0.06405	0.002	T	0.40515	-0.9559	9	0.87932	D	0	.	3.1013	0.06327	0.1887:0.4312:0.0:0.3801	.	61	Q15583	TGIF1_HUMAN	T	61	ENSP00000327959:P61T	ENSP00000327959:P61T	P	+	1	0	TGIF1	3442158	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.849000	0.01672	-0.246000	0.09611	0.655000	0.94253	CCC		0.721	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		21	63	1	0	2.89027e-11	1	3.02315e-11	21	63				
TMC6	11322	broad.mit.edu	37	17	76115082	76115082	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:76115082G>C	ENST00000590602.1	-	15	2016	c.1857C>G	c.(1855-1857)atC>atG	p.I619M	TMC6_ENST00000322933.4_Missense_Mutation_p.I198M|TMC6_ENST00000322914.3_Missense_Mutation_p.I619M|TMC6_ENST00000392467.3_Missense_Mutation_p.I619M|TMC6_ENST00000591436.1_Missense_Mutation_p.I198M|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000306591.7_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	619					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCAGCAGCTTGATGATCTGCA	0.682																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(1855-1857)atC>atG		transmembrane channel-like 6							26.0	22.0	23.0					17																	76115082		2200	4297	6497	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76115082G>C	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1857C>G	17.37:g.76115082G>C	ENSP00000465261:p.Ile619Met					TMC6_ENST00000322914.3_Missense_Mutation_p.I619M|TMC6_ENST00000392467.3_Missense_Mutation_p.I619M|TMC6_ENST00000322933.4_Missense_Mutation_p.I198M|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.I198M	p.I619M			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		15	2016	-			619					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.1857C>G	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	G	4.964	0.179008	0.09443	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933;ENST00000392466	T;T;T	0.67345	-0.26;-0.26;-0.26	4.58	-0.0969	0.13635	.	0.581016	0.17399	N	0.175620	T	0.61590	0.2359	L	0.55990	1.75	0.30162	N	0.802138	B;B	0.32467	0.372;0.2	B;B	0.35727	0.209;0.073	T	0.60826	-0.7186	10	0.56958	D	0.05	-6.8456	12.9282	0.58272	0.0738:0.6035:0.3227:0.0	.	619;198	Q7Z403;Q7Z403-3	TMC6_HUMAN;.	M	619;619;198;85	ENSP00000313408:I619M;ENSP00000376260:I619M;ENSP00000313479:I198M	ENSP00000313408:I619M	I	-	3	3	TMC6	73626677	1.000000	0.71417	0.118000	0.21660	0.076000	0.17211	0.898000	0.28404	-0.251000	0.09542	-0.304000	0.09214	ATC		0.682	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			3	16	0	0	0	1	0	3	16				
GPR149	344758	broad.mit.edu	37	3	154147314	154147314	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:154147314T>C	ENST00000389740.2	-	1	190	c.91A>G	c.(91-93)Acc>Gcc	p.T31A		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	31					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATATTCAGGGTTCCTGGCGGA	0.393																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(91-93)Acc>Gcc		G protein-coupled receptor 149							82.0	80.0	80.0					3																	154147314		1848	4095	5943	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154147314T>C	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.91A>G	3.37:g.154147314T>C	ENSP00000374390:p.Thr31Ala						p.T31A	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	190	-			31						Missense_Mutation	SNP	ENST00000389740.2	37	c.91A>G	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847810	0.32606	.	.	ENSG00000174948	ENST00000389740	T	0.36520	1.25	5.91	-3.89	0.04193	.	0.376195	0.30060	N	0.010510	T	0.16896	0.0406	L	0.27053	0.805	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.06570	-1.0819	10	0.45353	T	0.12	-5.8099	3.4067	0.07343	0.0903:0.1795:0.3641:0.3662	.	31	Q86SP6	GP149_HUMAN	A	31	ENSP00000374390:T31A	ENSP00000374390:T31A	T	-	1	0	GPR149	155630008	0.787000	0.28750	0.389000	0.26208	0.980000	0.70556	0.113000	0.15499	-0.093000	0.12396	0.533000	0.62120	ACC		0.393	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		25	101	0	0	0	1	0	25	101				
CLEC17A	388512	broad.mit.edu	37	19	14705357	14705357	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:14705357G>A	ENST00000417570.1	+	5	344	c.306G>A	c.(304-306)agG>agA	p.R102R	CLEC17A_ENST00000397439.2_Silent_p.R85R|CLEC17A_ENST00000547437.1_Silent_p.R102R	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	102						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										GACCTCCAAGGGCAGGTGAGT	0.587																																						ENST00000547437.1																			0											c.(304-306)agG>agA		C-type lectin domain family 17, member A							36.0	37.0	37.0					19																	14705357		1944	4132	6076	SO:0001819	synonymous_variant	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14705357G>A	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.306G>A	19.37:g.14705357G>A						CLEC17A_ENST00000417570.1_Silent_p.R102R|CLEC17A_ENST00000397439.2_Silent_p.R85R	p.R102R	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			5	383	+			102					A8MX68|B2RTX0|B7ZMM4	Silent	SNP	ENST00000417570.1	37	c.306G>A	CCDS56087.1																																																																																				0.587	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		6	14	0	0	0	1	0	6	14				
SDK1	221935	broad.mit.edu	37	7	4026875	4026875	+	Silent	SNP	C	C	T	rs550278515		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:4026875C>T	ENST00000404826.2	+	14	2191	c.2052C>T	c.(2050-2052)caC>caT	p.H684H	SDK1_ENST00000389531.3_Silent_p.H684H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	684	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCACAGCCACGCCGTGGTGC	0.458																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2050-2052)caC>caT		sidekick cell adhesion molecule 1							155.0	150.0	152.0					7																	4026875		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4026875C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2052C>T	7.37:g.4026875C>T						SDK1_ENST00000389531.3_Silent_p.H684H	p.H684H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	14	2191	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	684			Fibronectin type-III 1.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.2052C>T	CCDS34590.1																																																																																				0.458	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		49	143	0	0	0	1	0	49	143				
CTSO	1519	broad.mit.edu	37	4	156850844	156850844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:156850844C>A	ENST00000433477.3	-	6	757	c.688G>T	c.(688-690)Gaa>Taa	p.E230*		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	234					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TTTGCCATTTCATCTTCTTGG	0.363																																					Pancreas(148;2303 2598 8989 35298)	ENST00000433477.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16						c.(688-690)Gaa>Taa		cathepsin O							94.0	89.0	91.0					4																	156850844		2203	4300	6503	SO:0001587	stop_gained	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156850844C>A	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.688G>T	4.37:g.156850844C>A	ENSP00000414904:p.Glu230*						p.E230*	NM_001334.2	NP_001325.1	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	6	757	-	all_hematologic(180;0.24)	Renal(120;0.0458)	230					Q6FHS6	Nonsense_Mutation	SNP	ENST00000433477.3	37	c.688G>T	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512061	0.96402	.	.	ENSG00000256043	ENST00000433477	.	.	.	5.8	4.07	0.47477	.	0.228380	0.44483	D	0.000445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	8.7886	0.34837	0.0:0.7391:0.1256:0.1354	.	.	.	.	X	230	.	ENSP00000281527:E230X	E	-	1	0	CTSO	157070294	1.000000	0.71417	0.979000	0.43373	0.780000	0.44128	2.885000	0.48570	0.791000	0.33826	0.655000	0.94253	GAA		0.363	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		24	69	1	0	3.08376e-08	1	3.16491e-08	24	69				
KIF21B	23046	broad.mit.edu	37	1	200965341	200965341	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:200965341C>T	ENST00000422435.2	-	15	2576	c.2260G>A	c.(2260-2262)Gag>Aag	p.E754K	KIF21B_ENST00000332129.2_Missense_Mutation_p.E754K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E754K|KIF21B_ENST00000360529.5_Missense_Mutation_p.E754K	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	754					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCTTCATCTCAGCCACCTCG	0.572																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(2260-2262)Gag>Aag		kinesin family member 21B							176.0	160.0	166.0					1																	200965341		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200965341C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2260G>A	1.37:g.200965341C>T	ENSP00000411831:p.Glu754Lys					KIF21B_ENST00000360529.5_Missense_Mutation_p.E754K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E754K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E754K	p.E754K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			15	2576	-			754					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.2260G>A	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067154	0.76301	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.92	4.92	0.64577	.	0.060624	0.64402	D	0.000004	T	0.25344	0.0616	L	0.55481	1.735	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.09377	0.002;0.002;0.002;0.004	T	0.04579	-1.0941	10	0.59425	D	0.04	.	18.1007	0.89505	0.0:1.0:0.0:0.0	.	754;754;754;754	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	K	754	ENSP00000328494:E754K;ENSP00000353724:E754K;ENSP00000433808:E754K;ENSP00000411831:E754K	ENSP00000328494:E754K	E	-	1	0	KIF21B	199231964	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	7.674000	0.83992	2.280000	0.76307	0.555000	0.69702	GAG		0.572	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		51	193	0	0	0	1	0	51	193				
CHIT1	1118	broad.mit.edu	37	1	203188883	203188883	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:203188883G>C	ENST00000367229.1	-	8	858	c.824C>G	c.(823-825)tCc>tGc	p.S275C	CHIT1_ENST00000255427.3_Missense_Mutation_p.S256C|CHIT1_ENST00000535569.1_Missense_Mutation_p.S266C|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	275					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCTGATGAGGAGGCCAGTGT	0.602																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(823-825)tCc>tGc		chitinase 1 (chitotriosidase)							55.0	54.0	54.0					1																	203188883		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203188883G>C	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.824C>G	1.37:g.203188883G>C	ENSP00000356198:p.Ser275Cys					CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.S256C|CHIT1_ENST00000535569.1_Missense_Mutation_p.S266C	p.S275C	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			8	858	-			275					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.824C>G	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553413	0.65425	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.06608	3.28;3.28;3.28	5.2	5.2	0.72013	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.51477	D	0.000083	T	0.30386	0.0763	M	0.88570	2.965	0.49299	D	0.999779	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.87578	0.998;0.902;0.916	T	0.10064	-1.0646	10	0.72032	D	0.01	-8.7048	14.267	0.66126	0.0:0.0:1.0:0.0	.	275;266;275	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	C	275;256;266	ENSP00000356198:S275C;ENSP00000255427:S256C;ENSP00000438078:S266C	ENSP00000255427:S256C	S	-	2	0	CHIT1	201455506	0.600000	0.26899	0.743000	0.31040	0.275000	0.26752	3.155000	0.50700	2.403000	0.81681	0.655000	0.94253	TCC		0.602	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		21	79	0	0	0	1	0	21	79				
CIC	23152	broad.mit.edu	37	19	42794083	42794083	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:42794083G>A	ENST00000575354.2	+	9	1484	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	CIC_ENST00000160740.3_Missense_Mutation_p.E482K|CIC_ENST00000572681.2_Missense_Mutation_p.E1391K	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	482					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)				CAGCTCTGGGGAGGACCCAGA	0.602			"""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.(4171-4173)Gag>Aag		capicua transcriptional repressor							55.0	34.0	41.0					19																	42794083		2202	4298	6500	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794083G>A	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.1444G>A	19.37:g.42794083G>A	ENSP00000458663:p.Glu482Lys					CIC_ENST00000575354.2_Missense_Mutation_p.E482K|CIC_ENST00000160740.3_Missense_Mutation_p.E482K	p.E1391K			Q96RK0	CIC_HUMAN			10	4239	+		Prostate(69;0.00682)	482					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.4171G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471119	0.63625	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	T	0.37945	0.1022	N	0.08118	0	0.46725	D	0.999175	P	0.51791	0.948	B	0.43701	0.428	T	0.49224	-0.8962	8	0.87932	D	0	-12.3969	16.1093	0.81247	0.0:0.0:1.0:0.0	.	482	Q96RK0	CIC_HUMAN	K	482	.	ENSP00000160740:E482K	E	+	1	0	CIC	47485923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.510000	0.60455	2.667000	0.90743	0.561000	0.74099	GAG		0.602	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			4	13	0	0	0	1	0	4	13				
MAP9	79884	broad.mit.edu	37	4	156277025	156277025	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:156277025G>C	ENST00000311277.4	-	9	1396	c.1133C>G	c.(1132-1134)tCt>tGt	p.S378C	AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000597939.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S354C|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000594492.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	378					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAAAAACTCAGAGGTCATTAA	0.328																																						ENST00000311277.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1132-1134)tCt>tGt		microtubule-associated protein 9							47.0	47.0	47.0					4																	156277025		2202	4300	6502	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156277025G>C	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1133C>G	4.37:g.156277025G>C	ENSP00000310593:p.Ser378Cys					AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000593387.1_RNA|AC097467.2_ENST00000417474.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S354C	p.S378C	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	9	1396	-	all_hematologic(180;0.24)	Renal(120;0.0458)	378					Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.1133C>G	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515701	0.64634	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024	T;T;T	0.34667	1.99;3.07;1.35	5.28	4.43	0.53597	.	0.246281	0.33916	N	0.004438	T	0.46678	0.1405	L	0.51422	1.61	0.80722	D	1	D;D;D	0.65815	0.992;0.995;0.992	P;P;P	0.60473	0.824;0.875;0.824	T	0.42224	-0.9464	10	0.72032	D	0.01	-5.3355	8.9553	0.35814	0.1494:0.0:0.8506:0.0	.	353;378;378	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	C	378;354;377	ENSP00000310593:S378C;ENSP00000427402:S354C;ENSP00000394048:S377C	ENSP00000310593:S378C	S	-	2	0	MAP9	156496475	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.645000	0.46621	2.635000	0.89317	0.579000	0.79373	TCT		0.328	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		11	37	0	0	0	1	0	11	37				
GMFB	2764	broad.mit.edu	37	14	54950444	54950444	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr14:54950444C>T	ENST00000358056.3	-	2	313	c.45G>A	c.(43-45)gtG>gtA	p.V15V	GMFB_ENST00000554908.1_Silent_p.V15V|GMFB_ENST00000553566.1_5'UTR	NM_004124.2	NP_004115.1	P60983	GMFB_HUMAN	glia maturation factor, beta	15	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of protein kinase activity (GO:0006469)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						TCAGCTTTTCCACTAAATCTT	0.328																																						ENST00000554908.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						c.(43-45)gtG>gtA		glia maturation factor, beta							75.0	68.0	70.0					14																	54950444		2202	4300	6502	SO:0001819	synonymous_variant	2764				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity	g.chr14:54950444C>T	M86492	CCDS9718.1	14q22.2	2010-07-06			ENSG00000197045	ENSG00000197045			4373	protein-coding gene	gene with protein product		601713				1712830	Standard	NM_004124		Approved	GMF	uc021rtf.1	P60983	OTTHUMG00000140307	ENST00000358056.3:c.45G>A	14.37:g.54950444C>T						GMFB_ENST00000358056.3_Silent_p.V15V|GMFB_ENST00000553566.1_5'UTR	p.V15V			P60983	GMFB_HUMAN			2	142	-			15			ADF-H.		B2R499|P17774|Q9BS35	Silent	SNP	ENST00000358056.3	37	c.45G>A	CCDS9718.1																																																																																				0.328	GMFB-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276903.2	NM_004124		17	105	0	0	0	1	0	17	105				
NUDT22	84304	broad.mit.edu	37	11	63994194	63994194	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:63994194G>A	ENST00000279206.3	+	2	226	c.70G>A	c.(70-72)Gag>Aag	p.E24K	TRPT1_ENST00000394546.2_5'Flank|TRPT1_ENST00000546133.1_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA|TRPT1_ENST00000394547.3_5'Flank|TRPT1_ENST00000541278.1_5'Flank|NUDT22_ENST00000441250.2_Missense_Mutation_p.E24K|TRPT1_ENST00000546089.1_5'Flank|TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000317459.6_5'Flank	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	24							hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						GATACAGGCCGAGCTGAGCCC	0.667																																						ENST00000279206.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						c.(70-72)Gag>Aag		nudix (nucleoside diphosphate linked moiety X)-type motif 22							36.0	39.0	38.0					11																	63994194		2201	4297	6498	SO:0001583	missense	84304						hydrolase activity	g.chr11:63994194G>A	BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"""Nudix motif containing"""	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.70G>A	11.37:g.63994194G>A	ENSP00000279206:p.Glu24Lys					NUDT22_ENST00000441250.2_Missense_Mutation_p.E24K	p.E24K	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN			2	226	+			24					C9JY06|Q71RD5	Missense_Mutation	SNP	ENST00000279206.3	37	c.70G>A	CCDS8061.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849476	0.51270	.	.	ENSG00000149761	ENST00000539325;ENST00000279206;ENST00000441250;ENST00000428347;ENST00000536237	T;T;T;T	0.45668	0.89;2.21;2.21;1.47	4.55	3.64	0.41730	.	0.051087	0.85682	D	0.000000	T	0.43634	0.1256	L	0.38531	1.155	0.43637	D	0.99603	D;P;P	0.69078	0.997;0.904;0.923	P;B;B	0.56648	0.803;0.308;0.405	T	0.33727	-0.9857	10	0.52906	T	0.07	-22.6374	8.0758	0.30716	0.0877:0.1594:0.7529:0.0	.	24;24;24	Q9BRQ3-2;C9JY06;Q9BRQ3	.;.;NUD22_HUMAN	K	24	ENSP00000444022:E24K;ENSP00000279206:E24K;ENSP00000407970:E24K;ENSP00000401085:E24K	ENSP00000279206:E24K	E	+	1	0	NUDT22	63750770	0.990000	0.36364	0.850000	0.33497	0.017000	0.09413	2.045000	0.41250	1.297000	0.44761	-0.320000	0.08662	GAG		0.667	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2	NM_032344		17	60	0	0	0	1	0	17	60				
ZNF416	55659	broad.mit.edu	37	19	58083539	58083539	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:58083539C>T	ENST00000196489.3	-	4	1955	c.1733G>A	c.(1732-1734)cGt>cAt	p.R578H		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	578					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(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GCTGCTGTCACGAGGCCTCTC	0.468																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(1732-1734)cGt>cAt		zinc finger protein 416							181.0	168.0	173.0					19																	58083539		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58083539C>T	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1733G>A	19.37:g.58083539C>T	ENSP00000196489:p.Arg578His						p.R578H	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	1955	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	578					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.1733G>A	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.338328	0.24253	.	.	ENSG00000083817	ENST00000196489	T	0.59638	0.25	3.4	-2.03	0.07365	.	.	.	.	.	T	0.16685	0.0401	N	0.00226	-1.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21930	-1.0231	9	0.59425	D	0.04	.	2.7665	0.05321	0.1527:0.4612:0.1553:0.2308	.	578	Q9BWM5	ZN416_HUMAN	H	578	ENSP00000196489:R578H	ENSP00000196489:R578H	R	-	2	0	ZNF416	62775351	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.297000	0.02759	-0.611000	0.05709	-0.367000	0.07326	CGT		0.468	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		6	270	0	0	0	1	0	6	270				
PRICKLE1	144165	broad.mit.edu	37	12	42858745	42858745	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:42858745G>A	ENST00000455697.1	-	7	1376	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.S364L|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.S364L|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.S364L|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.S364L	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	364					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGCATTGCCTGAGAGGCCAGG	0.483																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(1090-1092)tCa>tTa		prickle homolog 1 (Drosophila)							98.0	94.0	95.0					12																	42858745		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42858745G>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1091C>T	12.37:g.42858745G>A	ENSP00000401060:p.Ser364Leu					PRICKLE1_ENST00000445766.2_Missense_Mutation_p.S364L|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.S364L|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.S364L|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.S364L	p.S364L	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	7	1376	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		364					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.1091C>T	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926920	0.34002	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.51	5.51	0.81932	.	0.165377	0.53938	D	0.000051	T	0.64125	0.2570	M	0.65498	2.005	0.27470	N	0.95289	B	0.24533	0.105	B	0.22386	0.039	T	0.57619	-0.7780	10	0.42905	T	0.14	-16.3311	19.785	0.96433	0.0:0.0:1.0:0.0	.	364	Q96MT3	PRIC1_HUMAN	L	364	ENSP00000401060:S364L;ENSP00000398947:S364L;ENSP00000448359:S364L;ENSP00000345064:S364L;ENSP00000449819:S364L	ENSP00000345064:S364L	S	-	2	0	PRICKLE1	41145012	1.000000	0.71417	0.031000	0.17742	0.949000	0.60115	3.285000	0.51716	2.743000	0.94032	0.650000	0.86243	TCA		0.483	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			28	79	0	0	0	1	0	28	79				
SPTBN2	6712	broad.mit.edu	37	11	66458979	66458979	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:66458979C>T	ENST00000533211.1	-	27	5672	c.5341G>A	c.(5341-5343)Gag>Aag	p.E1781K	SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1781K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1781K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1781					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.E1781K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCCAGGCCTCGTTGAGACTG	0.672																																						ENST00000533211.1																			1	Substitution - Missense(1)	p.E1781K(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(5341-5343)Gag>Aag		spectrin, beta, non-erythrocytic 2							52.0	41.0	45.0					11																	66458979		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66458979C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5341G>A	11.37:g.66458979C>T	ENSP00000432568:p.Glu1781Lys					SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1781K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1781K	p.E1781K			O15020	SPTN2_HUMAN			27	5672	-			1781					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.5341G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	36	5.636449	0.96693	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.67865	-0.29;-0.29;-0.29	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.85906	0.1437	10	0.36615	T	0.2	.	16.7391	0.85454	0.0:1.0:0.0:0.0	.	1781	O15020	SPTN2_HUMAN	K	1781	ENSP00000432568:E1781K;ENSP00000311489:E1781K;ENSP00000433593:E1781K	ENSP00000311489:E1781K	E	-	1	0	SPTBN2	66215555	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.591000	0.82666	2.480000	0.83734	0.655000	0.94253	GAG		0.672	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		14	38	0	0	0	1	0	14	38				
HOOK1	51361	broad.mit.edu	37	1	60314090	60314090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:60314090G>T	ENST00000371208.3	+	11	1290	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E303*	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	345	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AACTTTACAGGAAACCAACAT	0.363																																						ENST00000371208.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(1033-1035)Gaa>Taa		hook microtubule-tethering protein 1							89.0	87.0	88.0					1																	60314090		2203	4299	6502	SO:0001587	stop_gained	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60314090G>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1033G>T	1.37:g.60314090G>T	ENSP00000360252:p.Glu345*					HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E303*|HOOK1_ENST00000465876.1_3'UTR	p.E345*	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN			11	1290	+	all_cancers(7;0.000129)		345			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Nonsense_Mutation	SNP	ENST00000371208.3	37	c.1033G>T	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	40	8.487230	0.98832	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	.	.	.	5.91	5.91	0.95273	.	0.135048	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	.	.	.	X	345;303	.	ENSP00000360252:E345X	E	+	1	0	HOOK1	60086678	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.230000	0.95299	2.805000	0.96524	0.460000	0.39030	GAA		0.363	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		32	90	1	0	1.62565e-12	1	1.71352e-12	32	90				
PLCB4	5332	broad.mit.edu	37	20	9400478	9400478	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr20:9400478G>A	ENST00000378493.1	+	22	2055	c.2040G>A	c.(2038-2040)atG>atA	p.M680I	PLCB4_ENST00000378473.3_Missense_Mutation_p.M692I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M680I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M680I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M692I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.M680I			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	680	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.M680I(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAGATTTCATGAGGCGGCCTG	0.438																																						ENST00000378501.2																			1	Substitution - Missense(1)	p.M680I(1)	skin(1)	NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2038-2040)atG>atA		phospholipase C, beta 4							172.0	164.0	167.0					20																	9400478		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9400478G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2040G>A	20.37:g.9400478G>A	ENSP00000367754:p.Met680Ile					PLCB4_ENST00000278655.4_Missense_Mutation_p.M680I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.M692I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M692I|PLCB4_ENST00000378493.1_Missense_Mutation_p.M680I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M680I	p.M680I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			22	2055	+			680			PI-PLC Y-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2040G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119693	0.94385	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.79936	0.4532	M	0.93594	3.435	0.80722	D	1	D;D;P;D	0.63880	0.977;0.983;0.676;0.993	P;P;P;D	0.66602	0.882;0.673;0.784;0.945	D	0.85106	0.0960	10	0.87932	D	0	.	19.4501	0.94863	0.0:0.0:1.0:0.0	.	692;527;680;680	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	I	680;692;680;680;680;528	ENSP00000334105:M680I;ENSP00000367734:M692I;ENSP00000278655:M680I;ENSP00000367754:M680I;ENSP00000367762:M680I;ENSP00000390616:M528I	ENSP00000278655:M680I	M	+	3	0	PLCB4	9348478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.781000	0.99029	2.678000	0.91216	0.563000	0.77884	ATG		0.438	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			36	126	0	0	0	1	0	36	126				
RNF14	9604	broad.mit.edu	37	5	141357914	141357914	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr5:141357914G>A	ENST00000394520.2	+	5	662	c.353G>A	c.(352-354)cGt>cAt	p.R118H	RNF14_ENST00000347642.3_Missense_Mutation_p.R118H|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Missense_Mutation_p.R118H|RNF14_ENST00000356143.1_Missense_Mutation_p.R118H|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_5'UTR|AC005740.5_ENST00000520882.1_RNA	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	118	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GAAGAACACCGTGGCAGCGTG	0.453																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(352-354)cGt>cAt		ring finger protein 14							124.0	113.0	117.0					5																	141357914		2203	4300	6503	SO:0001583	missense	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141357914G>A	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.353G>A	5.37:g.141357914G>A	ENSP00000378028:p.Arg118His					RNF14_ENST00000356143.1_Missense_Mutation_p.R118H|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000394519.1_Missense_Mutation_p.R118H|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000347642.3_Missense_Mutation_p.R118H|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Intron	p.R118H	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	5	662	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	118			RWD.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	c.353G>A	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613294	0.66672	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000507163;ENST00000394519	T;T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.67	5.67	0.87782	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.111420	0.64402	D	0.000005	T	0.20414	0.0491	L	0.52364	1.645	0.42205	D	0.991781	P	0.44478	0.836	B	0.36808	0.233	T	0.01869	-1.1257	10	0.41790	T	0.15	.	15.3323	0.74223	0.0:0.1392:0.8608:0.0	.	118	Q9UBS8	RNF14_HUMAN	H	118	ENSP00000423420:R118H;ENSP00000423273:R118H;ENSP00000348462:R118H;ENSP00000378028:R118H;ENSP00000324956:R118H;ENSP00000420837:R118H;ENSP00000422527:R118H;ENSP00000378027:R118H	ENSP00000324956:R118H	R	+	2	0	RNF14	141338098	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.475000	0.53136	2.702000	0.92279	0.558000	0.71614	CGT		0.453	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		25	81	0	0	0	1	0	25	81				
TRNT1	51095	broad.mit.edu	37	3	3170787	3170787	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:3170787C>T	ENST00000251607.6	+	2	165	c.63C>T	c.(61-63)tgC>tgT	p.C21C	TRNT1_ENST00000420393.1_Silent_p.C21C|TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000339437.6_Silent_p.C21C|TRNT1_ENST00000402675.1_Silent_p.C21C|TRNT1_ENST00000280591.6_Silent_p.C21C	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	21					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		GTAGGCTGTGCCTTCCGAAGC	0.493																																						ENST00000251607.6																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12						c.(61-63)tgC>tgT		tRNA nucleotidyl transferase, CCA-adding, 1							129.0	113.0	118.0					3																	3170787		2203	4300	6503	SO:0001819	synonymous_variant	51095				protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	g.chr3:3170787C>T	AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.63C>T	3.37:g.3170787C>T						TRNT1_ENST00000402675.1_Silent_p.C21C|TRNT1_ENST00000339437.6_Silent_p.C21C|TRNT1_ENST00000280591.6_Silent_p.C21C|TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000420393.1_Silent_p.C21C	p.C21C	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	2	165	+			21					A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	c.63C>T	CCDS2561.2																																																																																				0.493	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			4	115	0	0	0	1	0	4	115				
C1orf52	148423	broad.mit.edu	37	1	85724231	85724231	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:85724231C>T	ENST00000471115.1	-	2	459	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Missense_Mutation_p.E151K	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	151							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		TCCTCCCCTTCTGGTAGAAGC	0.433																																						ENST00000471115.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10						c.(451-453)Gaa>Aaa		chromosome 1 open reading frame 52							211.0	196.0	201.0					1																	85724231		2203	4300	6503	SO:0001583	missense	148423							g.chr1:85724231C>T	BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.451G>A	1.37:g.85724231C>T	ENSP00000419417:p.Glu151Lys					C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Missense_Mutation_p.E151K	p.E151K	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN		all cancers(265;0.0105)|Epithelial(280;0.0293)	2	459	-			151					B3KX89|Q8TDK5|Q8TDK6	Missense_Mutation	SNP	ENST00000471115.1	37	c.451G>A	CCDS703.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101472	0.56183	.	.	ENSG00000162642	ENST00000471115;ENST00000344356	.	.	.	5.49	4.52	0.55395	.	0.187760	0.47093	D	0.000242	T	0.43743	0.1261	L	0.54323	1.7	0.41287	D	0.986953	P;P	0.38677	0.617;0.642	B;B	0.38458	0.242;0.274	T	0.54846	-0.8232	9	0.62326	D	0.03	-4.0614	14.7099	0.69222	0.0:0.8543:0.1457:0.0	.	151;151	Q8N6N3-2;Q8N6N3	.;CA052_HUMAN	K	151	.	ENSP00000345092:E151K	E	-	1	0	C1orf52	85496819	0.985000	0.35326	0.948000	0.38648	0.299000	0.27559	2.650000	0.46665	2.565000	0.86533	0.655000	0.94253	GAA		0.433	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077		51	169	0	0	0	1	0	51	169				
RASSF5	83593	broad.mit.edu	37	1	206681310	206681310	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:206681310C>T	ENST00000355294.4	+	1	432	c.375C>T	c.(373-375)ttC>ttT	p.F125F	RASSF5_ENST00000367117.3_Silent_p.F125F	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	125					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGCACTGCTTCGCCGAGTTGG	0.726																																					GBM(162;656 1984 11916 22872 31529)	ENST00000338603.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(373-375)ttC>ttT		Ras association (RalGDS/AF-6) domain family member 5							5.0	6.0	6.0					1																	206681310		1869	3731	5600	SO:0001819	synonymous_variant	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206681310C>T	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.375C>T	1.37:g.206681310C>T						RASSF5_ENST00000355294.4_Silent_p.F125F|RASSF5_ENST00000367117.3_Silent_p.F125F	p.F125F	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		1	432	+	Breast(84;0.183)		125					A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Silent	SNP	ENST00000355294.4	37	c.375C>T	CCDS30998.1																																																																																				0.726	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		4	7	0	0	0	1	0	4	7				
PSMD6	9861	broad.mit.edu	37	3	64005073	64005073	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:64005073C>T	ENST00000295901.4	-	3	536	c.396G>A	c.(394-396)gtG>gtA	p.V132V	PSMD6_ENST00000492933.1_Silent_p.V185V|PSMD6_ENST00000482510.1_Silent_p.V93V|PSMD6_ENST00000394431.2_Silent_p.V94V|RP11-245J9.6_ENST00000605919.1_RNA	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	132					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		GACCCAGGGCCACAGTTTTGT	0.418																																						ENST00000492933.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13						c.(553-555)gtG>gtA		proteasome (prosome, macropain) 26S subunit, non-ATPase, 6							95.0	96.0	95.0					3																	64005073		2203	4300	6503	SO:0001819	synonymous_variant	9861				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding	g.chr3:64005073C>T	AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.396G>A	3.37:g.64005073C>T						PSMD6_ENST00000295901.4_Silent_p.V132V|PSMD6_ENST00000394431.2_Silent_p.V94V|PSMD6_ENST00000482510.1_Silent_p.V93V	p.V185V	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)	4	607	-		Lung NSC(201;0.136)	132					A8K2E0|E9PHI9|Q6UV22	Silent	SNP	ENST00000295901.4	37	c.555G>A	CCDS2901.1																																																																																				0.418	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814		7	78	0	0	0	1	0	7	78				
ZNF44	51710	broad.mit.edu	37	19	12385822	12385822	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:12385822C>G	ENST00000356109.5	-	4	419	c.301G>C	c.(301-303)Gat>Cat	p.D101H	ZNF44_ENST00000355684.5_Missense_Mutation_p.D53H	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	101	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TGCTGATCATCAATGTTCTGG	0.313																																						ENST00000356109.5																			0				ovary(1)	1						c.(301-303)Gat>Cat		zinc finger protein 44							62.0	62.0	62.0					19																	12385822		1845	4100	5945	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12385822C>G	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.301G>C	19.37:g.12385822C>G	ENSP00000348419:p.Asp101His					ZNF44_ENST00000355684.5_Missense_Mutation_p.D53H	p.D101H	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	4	419	-		Renal(1328;0.157)	101			KRAB.		B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.301G>C	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.313050	0.23908	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.00784	5.7;5.7;5.7	1.39	0.316	0.15857	Krueppel-associated box (3);	.	.	.	.	T	0.00784	0.0026	N	0.17631	0.505	.	.	.	P;P	0.51240	0.943;0.911	P;P	0.51135	0.547;0.66	T	0.49698	-0.8912	8	0.14656	T	0.56	.	3.4248	0.07406	0.0:0.7234:0.0:0.2766	.	101;53	P15621;F8W7T7	ZNF44_HUMAN;.	H	101;101;53;53	ENSP00000377008:D101H;ENSP00000348419:D101H;ENSP00000347910:D53H	ENSP00000347910:D53H	D	-	1	0	ZNF44	12246822	0.170000	0.23016	0.004000	0.12327	0.144000	0.21451	1.293000	0.33353	0.157000	0.19338	0.305000	0.20034	GAT		0.313	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		5	33	0	0	0	1	0	5	33				
CCDC142	84865	broad.mit.edu	37	2	74709080	74709080	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:74709080G>A	ENST00000393965.3	-	1	1281	c.885C>T	c.(883-885)ctC>ctT	p.L295L	CCDC142_ENST00000290418.4_Silent_p.L295L|CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000442235.2_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	295										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CAGCCCCTCCGAGCCCTAGTC	0.677																																						ENST00000393965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(883-885)ctC>ctT		coiled-coil domain containing 142							28.0	34.0	32.0					2																	74709080		2202	4297	6499	SO:0001819	synonymous_variant	84865							g.chr2:74709080G>A	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.885C>T	2.37:g.74709080G>A						CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Silent_p.L295L	p.L295L	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			1	1281	-			295					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Silent	SNP	ENST00000393965.3	37	c.885C>T																																																																																					0.677	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		21	43	0	0	0	1	0	21	43				
PRPF3	9129	broad.mit.edu	37	1	150307683	150307683	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:150307683G>C	ENST00000324862.6	+	7	1171	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	PRPF3_ENST00000414970.2_Missense_Mutation_p.E287Q|PRPF3_ENST00000543398.1_Missense_Mutation_p.E201Q|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	336					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GGGCAAATTTGAGAAGATTGC	0.413																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1006-1008)Gag>Cag		pre-mRNA processing factor 3							57.0	58.0	58.0					1																	150307683		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150307683G>C	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1006G>C	1.37:g.150307683G>C	ENSP00000315379:p.Glu336Gln					PRPF3_ENST00000543398.1_Missense_Mutation_p.E201Q|PRPF3_ENST00000414970.2_Missense_Mutation_p.E287Q|PRPF3_ENST00000467329.1_3'UTR	p.E336Q	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	7	1171	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		336					B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.1006G>C	CCDS951.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314923	0.40996	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	D;D;D	0.86366	-2.11;-2.11;-2.11	5.63	5.63	0.86233	Pre-mRNA-splicing factor 3 (1);	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	N	0.05031	-0.125	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.14023	0.01;0.007	T	0.62671	-0.6805	10	0.19147	T	0.46	-21.2722	20.054	0.97641	0.0:0.0:1.0:0.0	.	287;336	E7EVD1;O43395	.;PRPF3_HUMAN	Q	336;287;201	ENSP00000315379:E336Q;ENSP00000387844:E287Q;ENSP00000445421:E201Q	ENSP00000315379:E336Q	E	+	1	0	PRPF3	148574307	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.487000	0.97945	2.808000	0.96608	0.655000	0.94253	GAG		0.413	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		14	75	0	0	0	1	0	14	75				
DAK	26007	broad.mit.edu	37	11	61113381	61113381	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:61113381G>A	ENST00000394900.3	+	17	1767	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	CYB561A3_ENST00000540317.1_5'Flank	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	513	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AAGAGCCCAGGAGCTGATCTG	0.617																																						ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1537-1539)gGa>gAa		dihydroxyacetone kinase 2 homolog (S. cerevisiae)							62.0	62.0	62.0					11																	61113381		2203	4299	6502	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61113381G>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1538G>A	11.37:g.61113381G>A	ENSP00000378360:p.Gly513Glu						p.G513E	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			17	1767	+			513			DhaL.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.1538G>A	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339805	0.60963	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.32515	1.45;1.52	5.91	4.94	0.65067	Dak phosphatase (3);	0.231543	0.45606	D	0.000348	T	0.35799	0.0944	L	0.61218	1.895	0.44142	D	0.996934	P;B	0.37061	0.58;0.417	B;B	0.43445	0.42;0.292	T	0.08680	-1.0710	10	0.23302	T	0.38	-9.7061	11.1486	0.48444	0.157:0.0:0.843:0.0	.	513;513	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	E	513;512	ENSP00000378360:G513E;ENSP00000432539:G512E	ENSP00000378360:G513E	G	+	2	0	DAK	60869957	0.998000	0.40836	0.994000	0.49952	0.442000	0.32017	3.299000	0.51826	1.381000	0.46364	0.655000	0.94253	GGA		0.617	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		17	60	0	0	0	1	0	17	60				
AQP6	363	broad.mit.edu	37	12	50367073	50367073	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:50367073C>G	ENST00000315520.5	+	1	454	c.117C>G	c.(115-117)ttC>ttG	p.F39L	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	39					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)	p.F39L(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						TGTATGTGTTCTTTGGCGTGG	0.612																																						ENST00000315520.5																			1	Substitution - Missense(1)	p.F39L(1)	large_intestine(1)	endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						c.(115-117)ttC>ttG		aquaporin 6, kidney specific							159.0	138.0	145.0					12																	50367073		2203	4300	6503	SO:0001583	missense	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50367073C>G	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.117C>G	12.37:g.50367073C>G	ENSP00000320247:p.Phe39Leu					AQP6_ENST00000551733.1_Intron	p.F39L	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN			1	454	+			39						Missense_Mutation	SNP	ENST00000315520.5	37	c.117C>G	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920878	0.52653	.	.	ENSG00000086159	ENST00000315520	D	0.87029	-2.2	5.37	4.48	0.54585	Aquaporin-like (2);	0.000000	0.64402	D	0.000015	D	0.86764	0.6011	L	0.41356	1.27	0.54753	D	0.999982	D	0.67145	0.996	P	0.58520	0.84	D	0.83781	0.0225	10	0.26408	T	0.33	-10.53	9.5882	0.39530	0.0:0.8367:0.0:0.1633	.	39	Q13520	AQP6_HUMAN	L	39	ENSP00000320247:F39L	ENSP00000320247:F39L	F	+	3	2	AQP6	48653340	0.996000	0.38824	1.000000	0.80357	0.659000	0.38960	0.520000	0.22878	1.419000	0.47118	0.561000	0.74099	TTC		0.612	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		39	119	0	0	0	1	0	39	119				
TBP	6908	broad.mit.edu	37	6	170873697	170873697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:170873697C>T	ENST00000392092.2	+	4	841	c.562C>T	c.(562-564)Cga>Tga	p.R188*	TBP_ENST00000230354.6_Nonsense_Mutation_p.R188*|TBP_ENST00000540980.1_Nonsense_Mutation_p.R168*	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	188					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		ACTTCGTGCCCGAAACGCCGA	0.318																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(562-564)Cga>Tga		TATA box binding protein							79.0	79.0	79.0					6																	170873697		2203	4300	6503	SO:0001587	stop_gained	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170873697C>T	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.562C>T	6.37:g.170873697C>T	ENSP00000375942:p.Arg188*					TBP_ENST00000230354.6_Nonsense_Mutation_p.R188*|TBP_ENST00000540980.1_Nonsense_Mutation_p.R168*	p.R188*	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	4	841	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	188					B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Nonsense_Mutation	SNP	ENST00000392092.2	37	c.562C>T	CCDS5315.1	.	.	.	.	.	.	.	.	.	.	C	39	7.443702	0.98289	.	.	ENSG00000112592	ENST00000421512;ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091	.	.	.	5.84	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4249	15.9052	0.79423	0.1402:0.8598:0.0:0.0	.	.	.	.	X	188;188;168;188;165	.	ENSP00000230354:R188X	R	+	1	2	TBP	170715622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.444000	0.44890	1.411000	0.46957	0.650000	0.86243	CGA		0.318	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	83	0	0	0	1	0	4	83				
DFNB31	25861	broad.mit.edu	37	9	117240818	117240818	+	Intron	SNP	C	C	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:117240818C>A	ENST00000362057.3	-	2	1006				DFNB31_ENST00000265134.6_Intron|DFNB31_ENST00000374057.3_Silent_p.G284G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31						inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCCTCCTTTCCCCACCCCAC	0.632																																						ENST00000374057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(850-852)ggG>ggT		deafness, autosomal recessive 31							47.0	46.0	46.0					9																	117240818		2203	4300	6503	SO:0001627	intron_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117240818C>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.837+14G>T	9.37:g.117240818C>A						DFNB31_ENST00000362057.3_Intron|DFNB31_ENST00000265134.6_Intron	p.G284G			Q9P202	WHRN_HUMAN			2	1500	-			284			PDZ 2.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	c.852G>T	CCDS6806.1																																																																																				0.632	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		12	51	1	0	6.81908e-15	1	7.21554e-15	12	51				
KRT76	51350	broad.mit.edu	37	12	53170978	53170978	+	Missense_Mutation	SNP	A	A	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:53170978A>T	ENST00000332411.2	-	1	151	c.98T>A	c.(97-99)gTg>gAg	p.V33E		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	33	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAGCGGGCCACACAGCTCAT	0.607																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(97-99)gTg>gAg		keratin 76							47.0	59.0	55.0					12																	53170978		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170978A>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.98T>A	12.37:g.53170978A>T	ENSP00000330101:p.Val33Glu						p.V33E	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			1	151	-			33			Head.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.98T>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	A	6.148	0.395472	0.11638	.	.	ENSG00000185069	ENST00000332411	D	0.83755	-1.76	4.61	4.61	0.57282	.	0.000000	0.41823	D	0.000801	T	0.78792	0.4339	M	0.74881	2.28	0.09310	N	1	P	0.48764	0.915	B	0.41764	0.366	T	0.73263	-0.4038	10	0.35671	T	0.21	.	4.4992	0.11856	0.6963:0.2029:0.1009:0.0	.	33	Q01546	K22O_HUMAN	E	33	ENSP00000330101:V33E	ENSP00000330101:V33E	V	-	2	0	KRT76	51457245	0.001000	0.12720	0.997000	0.53966	0.413000	0.31143	1.151000	0.31651	2.293000	0.77203	0.528000	0.53228	GTG		0.607	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		5	113	0	0	0	1	0	5	113				
MAGEB18	286514	broad.mit.edu	37	X	26157729	26157729	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:26157729G>A	ENST00000325250.1	+	2	814	c.627G>A	c.(625-627)ctG>ctA	p.L209L		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	209	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGATCTTTCTGAATGGCAACC	0.458																																						ENST00000325250.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						c.(625-627)ctG>ctA		melanoma antigen family B, 18							35.0	28.0	31.0					X																	26157729		2202	4300	6502	SO:0001819	synonymous_variant	286514						protein binding	g.chrX:26157729G>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.627G>A	X.37:g.26157729G>A							p.L209L	NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN			2	814	+			209			MAGE.			Silent	SNP	ENST00000325250.1	37	c.627G>A	CCDS14216.1																																																																																				0.458	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		12	41	0	0	0	1	0	12	41				
ADAD1	132612	broad.mit.edu	37	4	123336558	123336558	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:123336558G>C	ENST00000296513.2	+	11	1459	c.1274G>C	c.(1273-1275)aGa>aCa	p.R425T	ADAD1_ENST00000388724.2_Missense_Mutation_p.R414T|ADAD1_ENST00000388725.2_Missense_Mutation_p.R407T	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	425	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTGATACCAGAGGCTTAGAA	0.338																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1273-1275)aGa>aCa		adenosine deaminase domain containing 1 (testis-specific)							107.0	105.0	106.0					4																	123336558		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123336558G>C	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1274G>C	4.37:g.123336558G>C	ENSP00000296513:p.Arg425Thr					ADAD1_ENST00000388724.2_Missense_Mutation_p.R414T|ADAD1_ENST00000388725.2_Missense_Mutation_p.R407T	p.R425T	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			11	1459	+			425			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.1274G>C	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488469	0.64074	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93426	-3.22;-3.22;-3.22	5.12	5.12	0.69794	Adenosine deaminase/editase (3);	0.052537	0.64402	D	0.000001	D	0.94387	0.8195	L	0.52759	1.655	0.51233	D	0.999911	B;D	0.89917	0.216;1.0	B;D	0.77557	0.19;0.99	D	0.91774	0.5430	10	0.16420	T	0.52	-18.1803	12.428	0.55559	0.0885:0.0:0.9115:0.0	.	414;425	Q96M93-2;Q96M93	.;ADAD1_HUMAN	T	425;414;407	ENSP00000296513:R425T;ENSP00000373376:R414T;ENSP00000373377:R407T	ENSP00000296513:R425T	R	+	2	0	ADAD1	123556008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.539000	0.67199	2.386000	0.81285	0.650000	0.86243	AGA		0.338	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		23	92	0	0	0	1	0	23	92				
ITPR2	3709	broad.mit.edu	37	12	26753036	26753036	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:26753036C>T	ENST00000381340.3	-	29	4101	c.3685G>A	c.(3685-3687)Gaa>Aaa	p.E1229K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1229					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTCATCTTTTCATCATTCTGT	0.338																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(3685-3687)Gaa>Aaa		inositol 1,4,5-trisphosphate receptor, type 2							95.0	90.0	92.0					12																	26753036		1857	4092	5949	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26753036C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3685G>A	12.37:g.26753036C>T	ENSP00000370744:p.Glu1229Lys						p.E1229K	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			29	4101	-	Colorectal(261;0.0847)		1229					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.3685G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	4.404	0.074591	0.08485	.	.	ENSG00000123104	ENST00000381340	T	0.70986	-0.53	4.34	3.44	0.39384	Intracellular calcium-release channel (1);	0.161499	0.53938	D	0.000042	T	0.53417	0.1795	L	0.36672	1.1	0.80722	D	1	B	0.09022	0.002	B	0.16722	0.016	T	0.42413	-0.9453	10	0.06365	T	0.9	.	9.5377	0.39233	0.0:0.8344:0.0:0.1656	.	1229	Q14571	ITPR2_HUMAN	K	1229	ENSP00000370744:E1229K	ENSP00000370744:E1229K	E	-	1	0	ITPR2	26644303	1.000000	0.71417	0.988000	0.46212	0.448000	0.32197	5.471000	0.66762	2.423000	0.82170	0.650000	0.86243	GAA		0.338	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		9	48	0	0	0	1	0	9	48				
RRBP1	6238	broad.mit.edu	37	20	17614170	17614170	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr20:17614170C>T	ENST00000377813.1	-	8	2848	c.2545G>A	c.(2545-2547)Gag>Aag	p.E849K	RRBP1_ENST00000246043.4_Missense_Mutation_p.E849K|RRBP1_ENST00000377807.2_Missense_Mutation_p.E416K|RRBP1_ENST00000455029.2_Missense_Mutation_p.E190K|RRBP1_ENST00000360807.4_Missense_Mutation_p.E416K			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	849					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CGCTGCTGCTCATCTTGCCGC	0.612																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(2545-2547)Gag>Aag		ribosome binding protein 1							84.0	66.0	72.0					20																	17614170		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17614170C>T	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2545G>A	20.37:g.17614170C>T	ENSP00000367044:p.Glu849Lys					RRBP1_ENST00000360807.4_Missense_Mutation_p.E416K|RRBP1_ENST00000246043.4_Missense_Mutation_p.E849K|RRBP1_ENST00000377807.2_Missense_Mutation_p.E416K|RRBP1_ENST00000455029.2_Missense_Mutation_p.E190K	p.E849K			Q9P2E9	RRBP1_HUMAN			8	2848	-			849					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.2545G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.098182	0.94197	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.51817	2.23;0.69;2.23;0.69;2.23	5.45	5.45	0.79879	.	0.000000	0.37906	N	0.001883	T	0.68650	0.3024	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63470	-0.6630	10	0.24483	T	0.36	-46.4001	18.6332	0.91368	0.0:1.0:0.0:0.0	.	416	Q9P2E9-3	.	K	416;849;416;849;190	ENSP00000354045:E416K;ENSP00000367044:E849K;ENSP00000367038:E416K;ENSP00000246043:E849K;ENSP00000401206:E190K	ENSP00000246043:E849K	E	-	1	0	RRBP1	17562170	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	5.984000	0.70548	2.714000	0.92807	0.561000	0.74099	GAG		0.612	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		14	49	0	0	0	1	0	14	49				
TRPC5	7224	broad.mit.edu	37	X	111022220	111022220	+	Missense_Mutation	SNP	T	T	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:111022220T>G	ENST00000262839.2	-	10	3143	c.2225A>C	c.(2224-2226)aAt>aCt	p.N742T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	742					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TACCTTAAAATTTTCTTCTGT	0.318																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2224-2226)aAt>aCt		transient receptor potential cation channel, subfamily C, member 5							95.0	86.0	89.0					X																	111022220		2202	4298	6500	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111022220T>G	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2225A>C	X.37:g.111022220T>G	ENSP00000262839:p.Asn742Thr						p.N742T	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			10	3143	-			742					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2225A>C	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	t	23.9	4.472953	0.84640	.	.	ENSG00000072315	ENST00000262839	D	0.82619	-1.63	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.88862	0.6552	M	0.80616	2.505	0.80722	D	1	P	0.51791	0.948	P	0.54965	0.765	D	0.90310	0.4336	10	0.72032	D	0.01	-15.8738	13.9429	0.64066	0.0:0.0:0.0:1.0	.	742	Q9UL62	TRPC5_HUMAN	T	742	ENSP00000262839:N742T	ENSP00000262839:N742T	N	-	2	0	TRPC5	110908876	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.970000	0.88000	1.668000	0.50843	0.483000	0.47432	AAT		0.318	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		14	66	0	0	0	1	0	14	66				
TSSK2	23617	broad.mit.edu	37	22	19119533	19119533	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:19119533C>T	ENST00000399635.2	+	1	1213	c.621C>T	c.(619-621)taC>taT	p.Y207Y	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TGATCCTGTACATCATGGTCT	0.602																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(619-621)taC>taT		testis-specific serine kinase 2							92.0	88.0	90.0					22																	19119533		2203	4300	6503	SO:0001819	synonymous_variant	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119533C>T	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.621C>T	22.37:g.19119533C>T						DGCR14_ENST00000252137.6_3'UTR	p.Y207Y	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1213	+	Colorectal(54;0.0993)		207			Protein kinase.		Q8IY55	Silent	SNP	ENST00000399635.2	37	c.621C>T	CCDS13755.1																																																																																				0.602	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			34	122	0	0	0	1	0	34	122				
ACP2	53	broad.mit.edu	37	11	47270244	47270244	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:47270244G>A	ENST00000256997.3	-	1	213	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L	NR1H3_ENST00000395397.3_5'Flank|ACP2_ENST00000529788.1_Silent_p.L33L|NR1H3_ENST00000529540.1_3'UTR|ACP2_ENST00000530453.1_Silent_p.L33L|NR1H3_ENST00000481889.2_5'Flank|ACP2_ENST00000533929.1_5'Flank|ACP2_ENST00000537863.1_5'UTR|ACP2_ENST00000444355.2_Silent_p.L33L|ACP2_ENST00000527256.1_Silent_p.L33L|NR1H3_ENST00000405576.1_5'Flank|NR1H3_ENST00000407404.1_5'Flank|ACP2_ENST00000529444.1_Silent_p.L33L	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	33					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						ACGAAGCGCAGACTCCGGGCC	0.637																																					Melanoma(90;262 1440 11488 44828 48531)	ENST00000256997.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						c.(97-99)Ctg>Ttg		acid phosphatase 2, lysosomal							22.0	24.0	23.0					11																	47270244		2194	4296	6490	SO:0001819	synonymous_variant	53					integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity	g.chr11:47270244G>A	X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.97C>T	11.37:g.47270244G>A						ACP2_ENST00000527256.1_Silent_p.L33L|ACP2_ENST00000444355.2_Silent_p.L33L|ACP2_ENST00000537863.1_5'UTR|ACP2_ENST00000529444.1_Silent_p.L33L|ACP2_ENST00000529788.1_Silent_p.L33L|NR1H3_ENST00000529540.1_3'UTR|ACP2_ENST00000530453.1_Silent_p.L33L	p.L33L	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN			1	213	-			33					E9PCI1|Q561W5|Q9BTU7	Silent	SNP	ENST00000256997.3	37	c.97C>T	CCDS7928.1																																																																																				0.637	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2	NM_001610		4	10	0	0	0	1	0	4	10				
NFASC	23114	broad.mit.edu	37	1	204948662	204948662	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:204948662C>T	ENST00000401399.1	+	18	2350	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	NFASC_ENST00000513543.1_Silent_p.S713S|NFASC_ENST00000404076.1_Silent_p.S696S|NFASC_ENST00000338586.6_Silent_p.S717S|NFASC_ENST00000404907.1_Silent_p.S713S|NFASC_ENST00000367172.4_Silent_p.S717S|NFASC_ENST00000367170.4_Silent_p.S717S|NFASC_ENST00000367171.4_Silent_p.S702S|NFASC_ENST00000360049.4_Silent_p.S713S|NFASC_ENST00000338515.6_Silent_p.S717S|NFASC_ENST00000539706.1_Silent_p.S713S|NFASC_ENST00000367169.4_Silent_p.S717S|NFASC_ENST00000339876.6_Silent_p.S717S			O94856	NFASC_HUMAN	neurofascin	717	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCTCCCATCCGAGCGCTACC	0.622																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(2149-2151)tcC>tcT		neurofascin							90.0	95.0	93.0					1																	204948662		2202	4298	6500	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204948662C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2151C>T	1.37:g.204948662C>T						NFASC_ENST00000339876.6_Silent_p.S717S|NFASC_ENST00000360049.4_Silent_p.S713S|NFASC_ENST00000404907.1_Silent_p.S713S|NFASC_ENST00000513543.1_Silent_p.S713S|NFASC_ENST00000404076.1_Silent_p.S696S|NFASC_ENST00000367171.4_Silent_p.S702S|NFASC_ENST00000338515.6_Silent_p.S717S|NFASC_ENST00000401399.1_Silent_p.S717S|NFASC_ENST00000539706.1_Silent_p.S713S|NFASC_ENST00000338586.6_Silent_p.S717S|NFASC_ENST00000367169.4_Silent_p.S717S|NFASC_ENST00000367170.4_Silent_p.S717S	p.S717S			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		19	2479	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		717			Fibronectin type-III 1.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.2151C>T	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	8.596	0.885723	0.17540	.	.	ENSG00000163531	ENST00000367173	.	.	.	5.24	-7.52	0.01341	.	.	.	.	.	T	0.34948	0.0915	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39683	-0.9602	4	.	.	.	.	1.9782	0.03420	0.2584:0.1001:0.1746:0.467	.	.	.	.	L	687	.	.	P	+	2	0	NFASC	203215285	0.000000	0.05858	0.131000	0.22000	0.901000	0.52897	-5.367000	0.00128	-1.447000	0.01943	-0.768000	0.03414	CCG		0.622	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		38	145	0	0	0	1	0	38	145				
KCNAB3	9196	broad.mit.edu	37	17	7826832	7826832	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:7826832G>C	ENST00000303790.2	-	13	1078	c.1079C>G	c.(1078-1080)tCt>tGt	p.S360C		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	360					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CAGCAAGACAGAGCTGACACC	0.582																																						ENST00000303790.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8						c.(1078-1080)tCt>tGt		potassium voltage-gated channel, shaker-related subfamily, beta member 3							32.0	28.0	30.0					17																	7826832		2203	4300	6503	SO:0001583	missense	9196					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr17:7826832G>C	AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"""Potassium channels"", ""Aldo-keto reductases"""	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.1079C>G	17.37:g.7826832G>C	ENSP00000302719:p.Ser360Cys						p.S360C	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN			13	1078	-		Prostate(122;0.157)	360					Q4VAW0	Missense_Mutation	SNP	ENST00000303790.2	37	c.1079C>G	CCDS11124.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251798	0.59212	.	.	ENSG00000170049	ENST00000303790	T	0.26518	1.73	5.4	4.43	0.53597	NADP-dependent oxidoreductase domain (3);	0.129467	0.53938	D	0.000049	T	0.31295	0.0792	L	0.57130	1.785	0.54753	D	0.999984	B	0.33919	0.432	B	0.38378	0.272	T	0.16070	-1.0415	10	0.66056	D	0.02	.	14.3225	0.66496	0.0715:0.0:0.9285:0.0	.	360	O43448	KCAB3_HUMAN	C	360	ENSP00000302719:S360C	ENSP00000302719:S360C	S	-	2	0	KCNAB3	7767557	1.000000	0.71417	0.885000	0.34714	0.970000	0.65996	7.828000	0.86729	1.431000	0.47355	0.555000	0.69702	TCT		0.582	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		5	13	0	0	0	1	0	5	13				
REPS1	85021	broad.mit.edu	37	6	139241392	139241392	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:139241392C>G	ENST00000450536.2	-	12	2062	c.1488G>C	c.(1486-1488)aaG>aaC	p.K496N	REPS1_ENST00000415951.2_Missense_Mutation_p.K469N|REPS1_ENST00000409812.2_Missense_Mutation_p.K469N|REPS1_ENST00000367663.4_Missense_Mutation_p.K469N|REPS1_ENST00000258062.5_Missense_Mutation_p.K496N			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	496					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATGAATTTATCTTATTTTCTT	0.328																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(1486-1488)aaG>aaC		RALBP1 associated Eps domain containing 1							139.0	144.0	142.0					6																	139241392		2202	4300	6502	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139241392C>G		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1488G>C	6.37:g.139241392C>G	ENSP00000392065:p.Lys496Asn					REPS1_ENST00000409812.2_Missense_Mutation_p.K469N|REPS1_ENST00000258062.5_Missense_Mutation_p.K496N|REPS1_ENST00000367663.4_Missense_Mutation_p.K469N|REPS1_ENST00000415951.2_Missense_Mutation_p.K469N	p.K496N			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	12	2062	-			496					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.1488G>C		.	.	.	.	.	.	.	.	.	.	C	12.47	1.947018	0.34377	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668;ENST00000530255	T;T;T;T;T;T	0.33216	1.43;1.42;1.44;1.48;1.44;1.44	5.79	2.53	0.30540	.	0.101862	0.64402	D	0.000003	T	0.09379	0.0231	L	0.43152	1.355	0.42261	D	0.992017	B;B;B;B;B	0.17667	0.013;0.003;0.023;0.016;0.014	B;B;B;B;B	0.16289	0.014;0.006;0.015;0.009;0.007	T	0.09037	-1.0693	10	0.34782	T	0.22	-14.3021	4.9733	0.14127	0.0:0.4125:0.1485:0.439	.	496;444;469;496;469	Q96D71-3;B2R7D3;Q96D71-2;Q96D71;E9PMG1	.;.;.;REPS1_HUMAN;.	N	496;469;455;469;496;469;444;83	ENSP00000392065:K496N;ENSP00000356635:K469N;ENSP00000434251:K455N;ENSP00000386699:K469N;ENSP00000258062:K496N;ENSP00000397941:K469N	ENSP00000258062:K496N	K	-	3	2	REPS1	139283085	0.996000	0.38824	0.999000	0.59377	0.997000	0.91878	0.322000	0.19576	0.178000	0.19917	0.655000	0.94253	AAG		0.328	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			26	100	0	0	0	1	0	26	100				
IGFBPL1	347252	broad.mit.edu	37	9	38413282	38413282	+	Silent	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:38413282G>C	ENST00000377694.1	-	3	661	c.639C>G	c.(637-639)gtC>gtG	p.V213V		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	213	Ig-like C2-type.				regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CTCGCACTTGGACAGCTATAT	0.537																																						ENST00000377694.1																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(637-639)gtC>gtG		insulin-like growth factor binding protein-like 1							96.0	86.0	89.0					9																	38413282		2203	4300	6503	SO:0001819	synonymous_variant	347252				regulation of cell growth	extracellular region	insulin-like growth factor binding	g.chr9:38413282G>C		CCDS35017.1	9p12	2013-01-11			ENSG00000137142	ENSG00000137142		"""Immunoglobulin superfamily / I-set domain containing"""	20081	protein-coding gene	gene with protein product		610413					Standard	NM_001007563		Approved	bA113O24.1	uc004aaz.3	Q8WX77	OTTHUMG00000019937	ENST00000377694.1:c.639C>G	9.37:g.38413282G>C							p.V213V	NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN		GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)	3	661	-			213			Ig-like C2-type.			Silent	SNP	ENST00000377694.1	37	c.639C>G	CCDS35017.1																																																																																				0.537	IGFBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052491.1	XM_294567		16	71	0	0	0	1	0	16	71				
ANKRD30B	374860	broad.mit.edu	37	18	14763808	14763808	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr18:14763808C>T	ENST00000358984.4	+	7	1124	c.944C>T	c.(943-945)gCc>gTc	p.A315V	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A315V|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	315										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GGAACGTCTGCCAAAATTCAA	0.478																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(943-945)gCc>gTc		ankyrin repeat domain 30B							66.0	64.0	65.0					18																	14763808		692	1591	2283	SO:0001583	missense	374860							g.chr18:14763808C>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.944C>T	18.37:g.14763808C>T	ENSP00000351875:p.Ala315Val					ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A315V	p.A315V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			7	1124	+			315					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.944C>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	2.412	-0.335013	0.05278	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.32023	1.5;1.47	0.235	-0.47	0.12131	.	.	.	.	.	T	0.11281	0.0275	N	0.08118	0	0.09310	N	1	B	0.29955	0.263	B	0.20767	0.031	T	0.15694	-1.0428	8	0.49607	T	0.09	.	.	.	.	.	315	F8WAG3	.	V	315	ENSP00000351875:A315V;ENSP00000399031:A315V	ENSP00000351875:A315V	A	+	2	0	ANKRD30B	14753808	0.004000	0.15560	0.004000	0.12327	0.004000	0.04260	-2.171000	0.01267	-2.564000	0.00472	-2.617000	0.00157	GCC		0.478	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		5	23	0	0	0	1	0	5	23				
SLC7A7	9056	broad.mit.edu	37	14	23240675	23240675	+	IGR	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr14:23240675C>T	ENST00000397532.3	-	0	2447				SLC7A7_ENST00000554061.1_5'Flank|OXA1L_ENST00000358043.5_Missense_Mutation_p.L390F|OXA1L_ENST00000412791.1_Missense_Mutation_p.L379F|OXA1L_ENST00000285848.5_Missense_Mutation_p.L466F|OXA1L_ENST00000604262.1_Missense_Mutation_p.L406F			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CCACAACCCTCTCCTACAACC	0.453																																						ENST00000358043.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(1168-1170)Ctc>Ttc		oxidase (cytochrome c) assembly 1-like							180.0	170.0	173.0					14																	23240675		2203	4300	6503	SO:0001628	intergenic_variant	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23240675C>T	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692		14.37:g.23240675C>T						OXA1L_ENST00000412791.1_Missense_Mutation_p.L379F|OXA1L_ENST00000604262.1_Missense_Mutation_p.L406F|OXA1L_ENST00000285848.5_Missense_Mutation_p.L466F	p.L390F			Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	10	1486	+	all_cancers(95;8.44e-05)		406					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	c.1168C>T	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891082	0.52014	.	.	ENSG00000155463	ENST00000285848;ENST00000412791;ENST00000358043	T;T;T	0.60171	1.18;0.21;1.28	5.55	3.7	0.42460	.	0.064498	0.64402	D	0.000007	T	0.73313	0.3571	M	0.77616	2.38	0.58432	D	0.999992	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76071	0.982;0.972;0.987	T	0.75878	-0.3162	10	0.66056	D	0.02	-6.7602	10.6375	0.45573	0.0:0.7935:0.1321:0.0744	.	379;406;466	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	F	466;379;390	ENSP00000285848:L466F;ENSP00000387601:L379F;ENSP00000350740:L390F	ENSP00000285848:L466F	L	+	1	0	OXA1L	22310515	0.951000	0.32395	1.000000	0.80357	0.216000	0.24613	1.283000	0.33237	1.317000	0.45149	-0.233000	0.12211	CTC		0.453	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			36	148	0	0	0	1	0	36	148				
RALYL	138046	broad.mit.edu	37	8	85441762	85441762	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr8:85441762G>C	ENST00000521268.1	+	2	1311	c.206G>C	c.(205-207)aGa>aCa	p.R69T	RALYL_ENST00000521695.1_Missense_Mutation_p.R69T|RALYL_ENST00000517638.1_Missense_Mutation_p.R82T|RALYL_ENST00000518566.1_Missense_Mutation_p.R69T|RALYL_ENST00000522455.1_Missense_Mutation_p.R69T	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	69	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CGACATGCAAGAGCTGCAGTG	0.428																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(205-207)aGa>aCa		RALY RNA binding protein-like							55.0	58.0	57.0					8																	85441762		2061	4209	6270	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85441762G>C		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.206G>C	8.37:g.85441762G>C	ENSP00000430367:p.Arg69Thr					RALYL_ENST00000521695.1_Missense_Mutation_p.R69T|RALYL_ENST00000518566.1_Missense_Mutation_p.R69T|RALYL_ENST00000517638.1_Missense_Mutation_p.R82T|RALYL_ENST00000522455.1_Missense_Mutation_p.R69T	p.R69T	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			2	1311	+			69			RRM.		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.206G>C	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513136	0.96402	.	.	ENSG00000184672	ENST00000522613;ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517988;ENST00000517638	T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.45	5.45	0.79879	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32852	0.0843	L	0.31294	0.92	0.80722	D	1	D;D;D	0.63046	0.992;0.963;0.987	D;P;P	0.70487	0.969;0.879;0.9	T	0.04191	-1.0970	10	0.87932	D	0	.	19.7001	0.96049	0.0:0.0:1.0:0.0	.	69;82;69	B3KT61;G3V129;Q86SE5	.;.;RALYL_HUMAN	T	69;69;69;69;69;69;82	ENSP00000427787:R69T;ENSP00000430394:R69T;ENSP00000428667:R69T;ENSP00000430367:R69T;ENSP00000430065:R69T;ENSP00000428711:R69T;ENSP00000430128:R82T	ENSP00000430128:R82T	R	+	2	0	RALYL	85604317	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	9.812000	0.99227	2.732000	0.93576	0.551000	0.68910	AGA		0.428	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			14	63	0	0	0	1	0	14	63				
STAG3L2	442582	broad.mit.edu	37	7	74301262	74301262	+	RNA	SNP	T	T	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:74301262T>A	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						AGGACATCCCTAGACACAGAC	0.443																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5															168.0	146.0	154.0					7																	74301262		2201	4274	6475			442582					nucleus	binding	g.chr7:74301262T>A			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74301262T>A										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	SNP	ENST00000423186.1	37			.	.	.	.	.	.	.	.	.	.	T	7.807	0.714887	0.15306	.	.	ENSG00000160828	ENST00000457631;ENST00000448772;ENST00000429726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4758	0.11739	0.0:8.0E-4:0.0:0.9992	.	.	.	.	.	-1	.	.	.	-	.	.	STAG3L2	73939198	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	4.931000	0.63469	0.000000	0.14550	0.000000	0.15137	.		0.443	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		86	322	0	0	0	1	0	86	322				
IGLV2-18	28814	broad.mit.edu	37	22	23077464	23077464	+	RNA	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:23077464G>A	ENST00000390310.2	+	0	254				D87007.1_ENST00000579613.1_RNA					immunoglobulin lambda variable 2-18																		AGGGGTCCCTGATCGCTTCTC	0.552																																						ENST00000390310.2																			0																				144.0	148.0	147.0					22																	23077464		1884	4094	5978			28814							g.chr22:23077464G>A	Z73642		22q11.2	2012-02-08			ENSG00000211664	ENSG00000211664		"""Immunoglobulins / IGL locus"""	5889	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151232		22.37:g.23077464G>A														0	254	+									RNA	SNP	ENST00000390310.2	37																																																																																						0.552	IGLV2-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321836.1	NG_000002		85	246	0	0	0	1	0	85	246				
PRPF3	9129	broad.mit.edu	37	1	150321635	150321635	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:150321635G>A	ENST00000324862.6	+	15	2011	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	PRPF3_ENST00000414970.2_Missense_Mutation_p.D567N|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	616					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TCTTCCAGATGATGAGGAGTC	0.363																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1846-1848)Gat>Aat		pre-mRNA processing factor 3							173.0	177.0	176.0					1																	150321635		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150321635G>A	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1846G>A	1.37:g.150321635G>A	ENSP00000315379:p.Asp616Asn					PRPF3_ENST00000414970.2_Missense_Mutation_p.D567N|PRPF3_ENST00000467329.1_3'UTR	p.D616N	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	15	2011	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		616					B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.1846G>A	CCDS951.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697747	0.48307	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	T;T	0.78246	-1.16;-1.15	5.65	5.65	0.86999	Domain of unknown function DUF1115 (1);	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	L	0.52126	1.63	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.60702	-0.7211	10	0.44086	T	0.13	-15.9902	13.3313	0.60488	0.0722:0.0:0.9278:0.0	.	567;616	E7EVD1;O43395	.;PRPF3_HUMAN	N	616;567	ENSP00000315379:D616N;ENSP00000387844:D567N	ENSP00000315379:D616N	D	+	1	0	PRPF3	148588259	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.594000	0.54008	2.827000	0.97445	0.650000	0.86243	GAT		0.363	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		29	126	0	0	0	1	0	29	126				
CAPN10	11132	broad.mit.edu	37	2	241535885	241535885	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:241535885C>T	ENST00000391984.2	+	8	1624	c.1428C>T	c.(1426-1428)gaC>gaT	p.D476D	CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000404753.3_Silent_p.D476D|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	476	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCCTGAAGGACGCGCCAGGGG	0.657																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(1426-1428)gaC>gaT		calpain 10							57.0	62.0	61.0					2																	241535885		1994	4160	6154	SO:0001819	synonymous_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241535885C>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1428C>T	2.37:g.241535885C>T						CAPN10_ENST00000404753.3_Silent_p.D476D|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000352879.4_Intron	p.D476D	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	8	1624	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	476			Domain III 1.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	c.1428C>T	CCDS42838.1																																																																																				0.657	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		56	59	0	0	0	1	0	56	59				
ZNF737	100129842	broad.mit.edu	37	19	20736542	20736542	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:20736542C>G	ENST00000427401.4	-	2	197	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF737_ENST00000596797.1_Missense_Mutation_p.E35Q	NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGTAGTTCTCTAACATCACA	0.378																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(103-105)Gag>Cag		zinc finger protein 737							63.0	58.0	60.0					19																	20736542		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20736542C>G	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.103G>C	19.37:g.20736542C>G	ENSP00000395733:p.Glu35Gln					ZNF737_ENST00000596797.1_Missense_Mutation_p.E35Q	p.E35Q	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			2	197	-			35					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.103G>C	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	c	10.47	1.359422	0.24598	.	.	ENSG00000237440	ENST00000427401	T	0.04317	3.65	0.819	0.819	0.18785	.	.	.	.	.	T	0.22859	0.0552	M	0.93763	3.455	0.21386	N	0.999703	D	0.71674	0.998	D	0.71414	0.973	T	0.05022	-1.0911	9	0.72032	D	0.01	.	4.7943	0.13265	0.0:1.0:0.0:0.0	.	35	C9JHM3	.	Q	35	ENSP00000395733:E35Q	ENSP00000395733:E35Q	E	-	1	0	ZNF737	20528382	0.977000	0.34250	0.475000	0.27278	0.477000	0.33069	1.296000	0.33389	0.191000	0.20236	0.194000	0.17425	GAG		0.378	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		38	170	0	0	0	1	0	38	170				
GPRASP1	9737	broad.mit.edu	37	X	101910480	101910480	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:101910480G>A	ENST00000361600.5	+	5	2440	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	GPRASP1_ENST00000415986.1_Missense_Mutation_p.E547K|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E547K|GPRASP1_ENST00000537097.1_Missense_Mutation_p.E547K	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	547	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTCTGAGGAAGAAGAGGTCAT	0.512																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1639-1641)Gaa>Aaa		G protein-coupled receptor associated sorting protein 1							144.0	135.0	138.0					X																	101910480		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101910480G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1639G>A	X.37:g.101910480G>A	ENSP00000355146:p.Glu547Lys					GPRASP1_ENST00000361600.5_Missense_Mutation_p.E547K|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E547K|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E547K|RP4-769N13.7_ENST00000602441.1_RNA	p.E547K	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	2452	+			547			Glu-rich.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.1639G>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774206	0.31411	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	2.87	0.985	0.19779	.	.	.	.	.	T	0.03263	0.0095	N	0.05351	-0.065	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.47275	-0.9130	9	0.15499	T	0.54	.	2.7955	0.05400	0.3025:0.2472:0.4503:0.0	.	547	Q5JY77	GASP1_HUMAN	K	547	ENSP00000393691:E547K;ENSP00000409420:E547K;ENSP00000355146:E547K;ENSP00000445683:E547K	ENSP00000355146:E547K	E	+	1	0	GPRASP1	101797136	0.379000	0.25123	0.001000	0.08648	0.832000	0.47134	0.415000	0.21181	0.137000	0.18759	0.519000	0.50382	GAA		0.512	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		55	200	0	0	0	1	0	55	200				
RET	5979	broad.mit.edu	37	10	43617453	43617453	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:43617453G>A	ENST00000355710.3	+	16	3022	c.2790G>A	c.(2788-2790)acG>acA	p.T930T	RET_ENST00000340058.5_Silent_p.T930T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	930	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TCTACACCACGCAAAGTGATG	0.453		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(2788-2790)acG>acA		ret proto-oncogene	Sunitinib(DB01268)						240.0	223.0	229.0					10																	43617453		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43617453G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2790G>A	10.37:g.43617453G>A						RET_ENST00000340058.5_Silent_p.T930T	p.T930T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			16	3022	+		Ovarian(717;0.0423)	930			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.2790G>A	CCDS7200.1																																																																																				0.453	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		29	178	0	0	0	1	0	29	178				
NFKBIZ	64332	broad.mit.edu	37	3	101572436	101572436	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:101572436C>T	ENST00000326172.5	+	5	1181	c.1066C>T	c.(1066-1068)Ccc>Tcc	p.P356S	NFKBIZ_ENST00000326151.5_Intron|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.P256S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	356	Required for transcriptional activity. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TATTGCTAATCCCATGCAGAC	0.488																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1066-1068)Ccc>Tcc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							126.0	131.0	130.0					3																	101572436		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101572436C>T	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1066C>T	3.37:g.101572436C>T	ENSP00000325663:p.Pro356Ser					NFKBIZ_ENST00000326151.5_Intron|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.P256S	p.P356S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			5	1181	+			356			Required for transcriptional activity (By similarity).		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.1066C>T	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	C	2.239	-0.374191	0.05034	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326172	T;T;T	0.57595	0.43;0.39;0.44	5.65	4.78	0.61160	.	0.143050	0.49916	N	0.000121	T	0.39172	0.1068	L	0.52364	1.645	0.30710	N	0.749388	B	0.29571	0.249	B	0.24848	0.056	T	0.38415	-0.9662	10	0.24483	T	0.36	-8.0625	4.1249	0.10123	0.1318:0.601:0.1275:0.1397	.	356	Q9BYH8	IKBZ_HUMAN	S	256;256;356	ENSP00000419800:P256S;ENSP00000377618:P256S;ENSP00000325663:P356S	ENSP00000325663:P356S	P	+	1	0	NFKBIZ	103055126	0.274000	0.24191	0.854000	0.33618	0.030000	0.12068	2.076000	0.41548	1.533000	0.49186	-0.253000	0.11424	CCC		0.488	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		42	106	0	0	0	1	0	42	106				
DMRTA1	63951	broad.mit.edu	37	9	22451624	22451624	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:22451624C>G	ENST00000325870.2	+	2	1454	c.1229C>G	c.(1228-1230)tCt>tGt	p.S410C		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	410					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TCAGCTTTCTCTCCTCTTCAA	0.408																																						ENST00000325870.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1228-1230)tCt>tGt		DMRT-like family A1							112.0	118.0	116.0					9																	22451624		2203	4300	6503	SO:0001583	missense	63951				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:22451624C>G	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.1229C>G	9.37:g.22451624C>G	ENSP00000319651:p.Ser410Cys						p.S410C	NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	2	1454	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	410					A1L481|Q8N8Y9|Q9H4B9	Missense_Mutation	SNP	ENST00000325870.2	37	c.1229C>G	CCDS6514.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405207	0.83230	.	.	ENSG00000176399	ENST00000325870	T	0.42900	0.96	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	M	0.81802	2.56	0.58432	D	0.999995	D	0.89917	1.0	D	0.73380	0.98	T	0.70525	-0.4848	10	0.72032	D	0.01	-19.0528	19.0887	0.93217	0.0:1.0:0.0:0.0	.	410	Q5VZB9	DMRTA_HUMAN	C	410	ENSP00000319651:S410C	ENSP00000319651:S410C	S	+	2	0	DMRTA1	22441624	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.900000	0.63252	2.801000	0.96364	0.650000	0.86243	TCT		0.408	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			35	129	0	0	0	1	0	35	129				
LRRC30	339291	broad.mit.edu	37	18	7231853	7231853	+	Silent	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr18:7231853C>G	ENST00000383467.2	+	1	731	c.717C>G	c.(715-717)ctC>ctG	p.L239L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	239										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGCTGAACCTCAACAACAATG	0.577																																						ENST00000383467.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(715-717)ctC>ctG		leucine rich repeat containing 30							67.0	71.0	70.0					18																	7231853		2086	4225	6311	SO:0001819	synonymous_variant	339291							g.chr18:7231853C>G		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.717C>G	18.37:g.7231853C>G							p.L239L	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	731	+			239						Silent	SNP	ENST00000383467.2	37	c.717C>G	CCDS42409.1																																																																																				0.577	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		20	76	0	0	0	1	0	20	76				
PRAMEF11	440560	broad.mit.edu	37	1	12887399	12887399	+	Missense_Mutation	SNP	C	C	G	rs200799291	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:12887399C>G	ENST00000535591.1	-	3	653	c.458G>C	c.(457-459)cGc>cCc	p.R153P		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	153					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCTGATATTGCGGAAGGGCAT	0.468																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(457-459)cGc>cCc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887399C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.458G>C	1.37:g.12887399C>G	ENSP00000439551:p.Arg153Pro						p.R153P	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	653	-			153						Missense_Mutation	SNP	ENST00000535591.1	37	c.458G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	9.492	1.100910	0.20552	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.00949	5.51;5.51	1.48	1.48	0.22813	.	1.189920	0.06091	N	0.663618	T	0.00998	0.0033	N	0.14661	0.345	0.09310	N	1	B	0.29188	0.236	B	0.38106	0.265	T	0.50338	-0.8840	10	0.42905	T	0.14	.	3.4583	0.07523	0.0:0.2279:0.0:0.7721	.	153	O60813	PRA11_HUMAN	P	153;194;153	ENSP00000439551:R153P;ENSP00000391839:R153P	ENSP00000328783:R194P	R	-	2	0	PRAMEF11	12809986	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.593000	0.05740	0.070000	0.16634	-0.724000	0.03597	CGC		0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		109	449	0	0	0	1	0	109	449				
NOTCH4	4855	broad.mit.edu	37	6	32163492	32163492	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:32163492G>A	ENST00000375023.3	-	30	5872	c.5734C>T	c.(5734-5736)Cgc>Tgc	p.R1912C	NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000375043.3_5'Flank|GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375040.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1912					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTACGGCCGCGAGGGGTCGGG	0.687																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5734-5736)Cgc>Tgc		notch 4							32.0	39.0	36.0					6																	32163492		1508	2707	4215	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163492G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5734C>T	6.37:g.32163492G>A	ENSP00000364163:p.Arg1912Cys					NOTCH4_ENST00000443903.2_3'UTR	p.R1912C	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			30	5872	-			1912					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.5734C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564519	0.86439	.	.	ENSG00000204301	ENST00000375023	D	0.82167	-1.58	4.74	2.87	0.33458	.	0.156234	0.30260	N	0.010026	T	0.70509	0.3232	L	0.27053	0.805	0.30848	N	0.734969	D;D	0.76494	0.997;0.999	P;P	0.53146	0.635;0.719	T	0.69316	-0.5177	10	0.66056	D	0.02	.	11.1966	0.48717	0.0:0.3606:0.6394:0.0	.	1912;1911	Q99466;B0S882	NOTC4_HUMAN;.	C	1912	ENSP00000364163:R1912C	ENSP00000364163:R1912C	R	-	1	0	NOTCH4	32271470	0.001000	0.12720	0.054000	0.19295	0.850000	0.48378	0.706000	0.25690	0.660000	0.30964	0.650000	0.86243	CGC		0.687	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			15	71	0	0	0	1	0	15	71				
IL22RA1	58985	broad.mit.edu	37	1	24460775	24460775	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:24460775G>A	ENST00000270800.1	-	4	495	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	153	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		AGGGTTAGCCGGTGGCCATCG	0.522																																						ENST00000270800.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(457-459)Cgg>Tgg		interleukin 22 receptor, alpha 1							113.0	97.0	102.0					1																	24460775		2203	4300	6503	SO:0001583	missense	58985					integral to membrane	interferon receptor activity	g.chr1:24460775G>A	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.457C>T	1.37:g.24460775G>A	ENSP00000270800:p.Arg153Trp						p.R153W	NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	4	495	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	153			Fibronectin type-III 2.		A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	ENST00000270800.1	37	c.457C>T	CCDS247.1	.	.	.	.	.	.	.	.	.	.	G	5.586	0.292981	0.10567	.	.	ENSG00000142677	ENST00000270800	T	0.43294	0.95	4.98	3.09	0.35607	Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	1.278620	0.05486	N	0.555755	T	0.31263	0.0791	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19516	-1.0303	10	0.38643	T	0.18	-10.7396	8.2115	0.31486	0.1923:0.0:0.8077:0.0	.	45;153	B4E2V9;Q8N6P7	.;I22R1_HUMAN	W	153	ENSP00000270800:R153W	ENSP00000270800:R153W	R	-	1	2	IL22RA1	24333362	0.326000	0.24669	0.258000	0.24420	0.002000	0.02628	0.798000	0.27014	1.101000	0.41535	-0.254000	0.11334	CGG		0.522	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			4	49	0	0	0	1	0	4	49				
TTC1	7265	broad.mit.edu	37	5	159437680	159437680	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr5:159437680G>A	ENST00000231238.5	+	2	255	c.145G>A	c.(145-147)Gat>Aat	p.D49N	Y_RNA_ENST00000362528.1_RNA|TTC1_ENST00000522793.1_Missense_Mutation_p.D49N	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	49					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GCTCAGGGATGATGAGGCCCA	0.517																																						ENST00000231238.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12						c.(145-147)Gat>Aat		tetratricopeptide repeat domain 1							59.0	55.0	56.0					5																	159437680		2203	4300	6503	SO:0001583	missense	7265				protein folding		unfolded protein binding	g.chr5:159437680G>A	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.145G>A	5.37:g.159437680G>A	ENSP00000231238:p.Asp49Asn					TTC1_ENST00000522793.1_Missense_Mutation_p.D49N	p.D49N	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)	2	255	+	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	49					B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	37	c.145G>A	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	G	9.450	1.090388	0.20471	.	.	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.18657	2.2;2.2	5.09	5.09	0.68999	.	1.053410	0.07452	N	0.899184	T	0.16342	0.0393	N	0.19112	0.55	0.21527	N	0.99966	B	0.23650	0.089	B	0.18871	0.023	T	0.14227	-1.0480	10	0.19147	T	0.46	-21.0013	14.0086	0.64481	0.0:0.0:1.0:0.0	.	49	Q99614	TTC1_HUMAN	N	49	ENSP00000231238:D49N;ENSP00000429225:D49N	ENSP00000231238:D49N	D	+	1	0	TTC1	159370258	0.912000	0.30974	0.036000	0.18154	0.288000	0.27193	1.567000	0.36407	2.364000	0.80123	0.555000	0.69702	GAT		0.517	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		12	39	0	0	0	1	0	12	39				
SMTNL1	219537	broad.mit.edu	37	11	57317567	57317567	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:57317567G>A	ENST00000399154.2	+	8	1356	c.1356G>A	c.(1354-1356)gtG>gtA	p.V452V	SMTNL1_ENST00000527972.1_Silent_p.V489V|SMTNL1_ENST00000457912.1_Silent_p.V507V			A8MU46	SMTL1_HUMAN	smoothelin-like 1	452	Calmodulin-binding. {ECO:0000250}.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAGGACTGGTGAAGACCAAGA	0.597																																						ENST00000457912.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(1519-1521)gtG>gtA		smoothelin-like 1							46.0	47.0	47.0					11																	57317567		2099	4222	6321	SO:0001819	synonymous_variant	219537							g.chr11:57317567G>A	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.1356G>A	11.37:g.57317567G>A						SMTNL1_ENST00000399154.2_Silent_p.V452V|SMTNL1_ENST00000527972.1_Silent_p.V489V	p.V507V			E9PPJ3	E9PPJ3_HUMAN			8	1521	+			489						Silent	SNP	ENST00000399154.2	37	c.1521G>A																																																																																					0.597	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		4	17	0	0	0	1	0	4	17				
APC	324	broad.mit.edu	37	5	112175771	112175771	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr5:112175771G>C	ENST00000457016.1	+	16	4860	c.4480G>C	c.(4480-4482)Gaa>Caa	p.E1494Q	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.E1494Q|APC_ENST00000508376.2_Missense_Mutation_p.E1494Q			P25054	APC_HUMAN	adenomatous polyposis coli	1494	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1494fs*13(7)|p.E1494fs*19(3)|p.?(1)|p.K1454fs*3(1)|p.L1488fs*13(1)|p.S1495fs*19(1)|p.K1192fs*3(1)|p.T1493fs*13(1)|p.E1494*(1)|p.E1494fs*12(1)|p.E1494fs*11(1)|p.T1493fs*17(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTTTGCCACGGAAAGTACTCC	0.438		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		20	Deletion - Frameshift(15)|Complex - frameshift(2)|Substitution - Nonsense(1)|Unknown(1)|Insertion - Frameshift(1)	p.E1494fs*13(7)|p.E1494fs*19(3)|p.?(1)|p.K1454fs*3(1)|p.L1488fs*13(1)|p.S1495fs*19(1)|p.K1192fs*3(1)|p.T1493fs*13(1)|p.E1494*(1)|p.E1494fs*12(1)|p.E1494fs*11(1)|p.T1493fs*17(1)	large_intestine(15)|soft_tissue(2)|thyroid(1)|lung(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4480-4482)Gaa>Caa		adenomatous polyposis coli							70.0	72.0	71.0					5																	112175771		2201	4300	6501	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175771G>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4480G>C	5.37:g.112175771G>C	ENSP00000413133:p.Glu1494Gln	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.E1494Q|APC_ENST00000257430.4_Missense_Mutation_p.E1494Q|CTC-554D6.1_ENST00000520401.1_Intron	p.E1494Q			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4860	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1494			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4480G>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341709	0.81911	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89196	-2.48;-2.48;-2.48	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.93488	0.7922	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91506	0.5223	9	.	.	.	-25.3395	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1496;1494	Q4LE70;P25054	.;APC_HUMAN	Q	1494	ENSP00000413133:E1494Q;ENSP00000257430:E1494Q;ENSP00000427089:E1494Q	.	E	+	1	0	APC	112203670	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	GAA		0.438	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		22	114	0	0	0	1	0	22	114				
DDX1	1653	broad.mit.edu	37	2	15758387	15758387	+	Missense_Mutation	SNP	G	G	C	rs146515867	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:15758387G>C	ENST00000381341.2	+	17	1588	c.1199G>C	c.(1198-1200)aGa>aCa	p.R400T	DDX1_ENST00000233084.3_Missense_Mutation_p.R400T			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	400	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.R400T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GATGGAAAAAGACTTCAGGTA	0.368																																						ENST00000381341.2																			1	Substitution - Missense(1)	p.R400T(1)	lung(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1198-1200)aGa>aCa		DEAD (Asp-Glu-Ala-Asp) box helicase 1		G	THR/ARG	0,4406		0,0,2203	104.0	118.0	113.0		1199	6.2	1.0	2	dbSNP_134	113	3,8591	3.0+/-9.4	0,3,4294	yes	missense	DDX1	NM_004939.1	71	0,3,6497	CC,CG,GG		0.0349,0.0,0.0231	probably-damaging	400/741	15758387	3,12997	2203	4297	6500	SO:0001583	missense	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15758387G>C	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1199G>C	2.37:g.15758387G>C	ENSP00000370745:p.Arg400Thr					DDX1_ENST00000233084.3_Missense_Mutation_p.R400T	p.R400T			Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	17	1588	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	400			Helicase ATP-binding.|Necessary for interaction with RELA.		B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	c.1199G>C	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118730	0.94385	0.0	3.49E-4	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.04758	3.56;3.56	6.17	6.17	0.99709	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18383	0.0441	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00013	-1.2421	10	0.72032	D	0.01	-28.9133	20.8794	0.99867	0.0:0.0:1.0:0.0	.	400	Q92499	DDX1_HUMAN	T	400;400;384	ENSP00000370745:R400T;ENSP00000233084:R400T	ENSP00000233084:R400T	R	+	2	0	DDX1	15675838	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.448000	0.97600	2.941000	0.99782	0.655000	0.94253	AGA		0.368	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		22	121	0	0	0	1	0	22	121				
ZMIZ1	57178	broad.mit.edu	37	10	81056365	81056365	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:81056365C>T	ENST00000334512.5	+	13	1940	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	456	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGCCGAGCTCCGGGCAGTACC	0.677																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1366-1368)tcC>tcT		zinc finger, MIZ-type containing 1							44.0	52.0	49.0					10																	81056365		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81056365C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1368C>T	10.37:g.81056365C>T						ZMIZ1_ENST00000478357.1_3'UTR	p.S456S	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		13	1940	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		456			Pro-rich.		Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.1368C>T	CCDS7357.1																																																																																				0.677	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		11	67	0	0	0	1	0	11	67				
ZNF750	79755	broad.mit.edu	37	17	80789502	80789502	+	Nonsense_Mutation	SNP	C	C	A	rs35283702	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:80789502C>A	ENST00000269394.3	-	2	1662	c.829G>T	c.(829-831)Gga>Tga	p.G277*	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	277					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCTTGGGTTCCGTAGACTGAC	0.597																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(829-831)Gga>Tga		zinc finger protein 750							104.0	112.0	109.0					17																	80789502		2203	4300	6503	SO:0001587	stop_gained	79755					intracellular	zinc ion binding	g.chr17:80789502C>A	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.829G>T	17.37:g.80789502C>A	ENSP00000269394:p.Gly277*					TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron	p.G277*	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1662	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	277					Q9H899	Nonsense_Mutation	SNP	ENST00000269394.3	37	c.829G>T	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	39	7.895176	0.98548	.	.	ENSG00000141579	ENST00000269394	.	.	.	5.34	4.38	0.52667	.	0.284900	0.30168	N	0.010256	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.6189	8.2291	0.31587	0.1549:0.7659:0.0:0.0792	.	.	.	.	X	277	.	.	G	-	1	0	ZNF750	78382791	0.001000	0.12720	0.194000	0.23346	0.067000	0.16453	0.555000	0.23422	1.262000	0.44165	-0.140000	0.14226	GGA		0.597	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		67	86	1	0	5.10508e-28	1	5.61971e-28	67	86				
FAM110C	642273	broad.mit.edu	37	2	45627	45627	+	Silent	SNP	G	G	A	rs570947526		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:45627G>A	ENST00000327669.4	-	1	758	c.759C>T	c.(757-759)gtC>gtT	p.V253V	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	253					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CGGAGGTGGCGACGCTCACGC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		13349	0.0		0.0	False		,,,				2504	0.001					ENST00000327669.4																			0				central_nervous_system(1)|kidney(1)|lung(2)	4						c.(757-759)gtC>gtT		family with sequence similarity 110, member C							17.0	23.0	21.0					2																	45627		2122	4234	6356	SO:0001819	synonymous_variant	642273					microtubule|microtubule organizing center|spindle pole		g.chr2:45627G>A	DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.759C>T	2.37:g.45627G>A							p.V253V	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)	1	758	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)	253						Silent	SNP	ENST00000327669.4	37	c.759C>T	CCDS42645.1																																																																																				0.692	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710		10	27	0	0	0	1	0	10	27				
TXNDC2	84203	broad.mit.edu	37	18	9886265	9886265	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr18:9886265G>A	ENST00000306084.6	+	1	293	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.5_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	32					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGAAACAAGTGAAGGTGATGC	0.473																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(94-96)Gaa>Aaa		thioredoxin domain containing 2 (spermatozoa)							78.0	79.0	78.0					18																	9886265		1932	4135	6067	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886265G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.94G>A	18.37:g.9886265G>A	ENSP00000304908:p.Glu32Lys					TXNDC2_ENST00000357775.4_Intron|TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000426718.3_Missense_Mutation_p.E32K|TXNDC2_ENST00000584255.1_Intron	p.E32K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			1	293	+			32					A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.94G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	G	9.567	1.119929	0.20877	.	.	ENSG00000168454	ENST00000306084;ENST00000426718	T	0.11385	2.78	3.81	0.856	0.19019	.	.	.	.	.	T	0.05640	0.0148	L	0.29908	0.895	0.09310	N	1	P	0.47841	0.901	B	0.33750	0.169	T	0.36578	-0.9742	8	.	.	.	-1.9136	5.6473	0.17596	0.1123:0.3944:0.4933:0.0	.	32	Q86VQ3	TXND2_HUMAN	K	32	ENSP00000304908:E32K	.	E	+	1	0	TXNDC2	9876265	0.001000	0.12720	0.006000	0.13384	0.156000	0.22039	0.488000	0.22371	0.165000	0.19558	0.563000	0.77884	GAA		0.473	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			7	20	0	0	0	1	0	7	20				
DMD	1756	broad.mit.edu	37	X	32382754	32382754	+	Missense_Mutation	SNP	G	G	T	rs398123978		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:32382754G>T	ENST00000357033.4	-	36	5305	c.5099C>A	c.(5098-5100)aCa>aAa	p.T1700K	DMD_ENST00000378677.2_Missense_Mutation_p.T1696K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1700	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCCAAAAGTGTGTCAGCCTG	0.383																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(5098-5100)aCa>aAa		dystrophin							254.0	207.0	223.0					X																	32382754		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32382754G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5099C>A	X.37:g.32382754G>T	ENSP00000354923:p.Thr1700Lys					DMD_ENST00000378677.2_Missense_Mutation_p.T1696K	p.T1700K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			36	5305	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1700			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5099C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481831	0.26598	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48522	0.81;0.81	5.38	2.52	0.30459	.	0.739154	0.10738	U	0.639868	T	0.24392	0.0591	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.12013	0.004;0.001;0.005;0.005;0.005	B;B;B;B;B	0.19391	0.015;0.006;0.025;0.025;0.025	T	0.24870	-1.0148	10	0.16896	T	0.51	.	1.1548	0.01793	0.2749:0.1551:0.4003:0.1697	.	1692;1700;1696;359;356	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1692;359;356;1696;1700;1700;1577	ENSP00000367948:T1696K;ENSP00000354923:T1700K	ENSP00000354923:T1700K	T	-	2	0	DMD	32292675	0.808000	0.29022	0.556000	0.28293	0.973000	0.67179	1.126000	0.31344	0.519000	0.28406	0.538000	0.68166	ACA		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		33	146	1	0	2.08457e-15	1	2.21435e-15	33	146				
ZNF606	80095	broad.mit.edu	37	19	58491078	58491078	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:58491078G>C	ENST00000341164.4	-	7	1590	c.970C>G	c.(970-972)Caa>Gaa	p.Q324E	ZNF606_ENST00000536132.1_Missense_Mutation_p.Q234E	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTAAAGATTTGATGGCATTCC	0.313																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(970-972)Caa>Gaa		zinc finger protein 606							121.0	124.0	123.0					19																	58491078		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58491078G>C	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.970C>G	19.37:g.58491078G>C	ENSP00000343617:p.Gln324Glu					ZNF606_ENST00000536132.1_Missense_Mutation_p.Q234E	p.Q324E	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1590	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	324					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.970C>G	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333276	0.24167	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.14640	2.49;2.49;2.49	4.29	4.29	0.51040	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42821	D	0.000657	T	0.07413	0.0187	N	0.11560	0.145	0.26667	N	0.971802	P	0.43231	0.801	B	0.38500	0.275	T	0.17018	-1.0383	10	0.62326	D	0.03	.	9.9641	0.41715	0.0:0.0:0.6956:0.3044	.	324	Q8WXB4	ZN606_HUMAN	E	324;234;324	ENSP00000343617:Q324E;ENSP00000445624:Q234E;ENSP00000446972:Q324E	ENSP00000343617:Q324E	Q	-	1	0	ZNF606	63182890	0.002000	0.14202	1.000000	0.80357	0.984000	0.73092	0.099000	0.15210	2.675000	0.91044	0.655000	0.94253	CAA		0.313	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		31	78	0	0	0	1	0	31	78				
USP42	84132	broad.mit.edu	37	7	6150815	6150815	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:6150815G>T	ENST00000306177.5	+	2	209	c.51G>T	c.(49-51)caG>caT	p.Q17H		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	17					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGCCTATCAGAATCAGCCTG	0.458																																						ENST00000306177.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(49-51)caG>caT		ubiquitin specific peptidase 42							72.0	67.0	69.0					7																	6150815		1959	4144	6103	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6150815G>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.51G>T	7.37:g.6150815G>T	ENSP00000301962:p.Gln17His						p.Q17H	NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	2	209	+		Ovarian(82;0.0423)	17					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.51G>T	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615269	0.66672	.	.	ENSG00000106346	ENST00000306177;ENST00000465073	T;T	0.15718	2.4;2.81	5.77	5.77	0.91146	.	0.103133	0.44285	D	0.000466	T	0.28400	0.0702	L	0.27053	0.805	0.32712	N	0.511408	D;D;P	0.71674	0.998;0.996;0.855	D;P;P	0.67382	0.951;0.894;0.459	T	0.15435	-1.0437	10	0.56958	D	0.05	.	15.1086	0.72338	0.0692:0.0:0.9308:0.0	.	17;17;17	Q9H9J4-2;Q9H9J4;A4D2N6	.;UBP42_HUMAN;.	H	17	ENSP00000301962:Q17H;ENSP00000430568:Q17H	ENSP00000301962:Q17H	Q	+	3	2	USP42	6117341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.823000	0.39062	2.737000	0.93849	0.643000	0.83706	CAG		0.458	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		6	26	1	0	0.0215528	1	0.021632	6	26				
CDH18	1016	broad.mit.edu	37	5	19483611	19483611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr5:19483611G>A	ENST00000507958.1	-	14	2671	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	CDH18_ENST00000502796.1_Intron|CDH18_ENST00000382275.1_Nonsense_Mutation_p.Q561*|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000274170.4_Nonsense_Mutation_p.Q561*			Q13634	CAD18_HUMAN	cadherin 18, type 2	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TACACATCCTGAACAGTTCGA	0.463																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1681-1683)Cag>Tag		cadherin 18, type 2							103.0	86.0	91.0					5																	19483611		2203	4300	6503	SO:0001587	stop_gained	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483611G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1681C>T	5.37:g.19483611G>A	ENSP00000425093:p.Gln561*					CDH18_ENST00000382275.1_Nonsense_Mutation_p.Q561*|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000274170.4_Nonsense_Mutation_p.Q561*|CDH18_ENST00000506372.1_Intron	p.Q561*			Q13634	CAD18_HUMAN			14	2671	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		561			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Nonsense_Mutation	SNP	ENST00000507958.1	37	c.1681C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	47	13.837416	0.99766	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3739	0.90428	0.0:0.0:1.0:0.0	.	.	.	.	X	561	.	.	Q	-	1	0	CDH18	19519368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.531000	0.81973	2.696000	0.92011	0.655000	0.94253	CAG		0.463	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		13	55	0	0	0	1	0	13	55				
SEMA6D	80031	broad.mit.edu	37	15	48056379	48056379	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr15:48056379G>T	ENST00000316364.5	+	11	1413	c.974G>T	c.(973-975)gGt>gTt	p.G325V	SEMA6D_ENST00000358066.4_Missense_Mutation_p.G325V|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G325V|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G325V|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G325V|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G325V|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G325V|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G325V|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G325V|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G325V|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G325V|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G325V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	325	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		AGCATCCCTGGTTCTGCTGTC	0.458																																						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.(973-975)gGt>gTt		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							128.0	116.0	120.0					15																	48056379		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056379G>T	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.974G>T	15.37:g.48056379G>T	ENSP00000324857:p.Gly325Val					SEMA6D_ENST00000389428.3_Missense_Mutation_p.G325V|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G325V|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G325V|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G325V|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G325V|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G325V|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G325V|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G325V|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G325V|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G325V|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G325V	p.G325V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	11	1413	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	325			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.974G>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182150	0.78677	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68;2.68;2.68;2.68;2.68	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46210	0.1381	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.44877	-0.9299	10	0.87932	D	0	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	325;325;325;325;325	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	V	325	ENSP00000442040:G325V;ENSP00000446152:G325V;ENSP00000324857:G325V;ENSP00000374084:G325V;ENSP00000374083:G325V;ENSP00000346786:G325V;ENSP00000350770:G325V;ENSP00000374079:G325V;ENSP00000348276:G325V;ENSP00000374076:G325V	ENSP00000324857:G325V	G	+	2	0	SEMA6D	45843671	1.000000	0.71417	0.995000	0.50966	0.380000	0.30137	9.801000	0.99128	2.837000	0.97791	0.655000	0.94253	GGT		0.458	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		35	124	1	0	1.49673e-21	1	1.62146e-21	35	124				
TNFAIP1	7126	broad.mit.edu	37	17	26671454	26671454	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:26671454G>A	ENST00000226225.2	+	7	1046	c.779G>A	c.(778-780)cGc>cAc	p.R260H	TNFAIP1_ENST00000583213.1_3'UTR|TNFAIP1_ENST00000544907.2_Missense_Mutation_p.R156H|POLDIP2_ENST00000003607.4_5'Flank	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	260					apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAGACTCCCCGCGTCCCCGAC	0.587																																						ENST00000226225.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12						c.(778-780)cGc>cAc		tumor necrosis factor, alpha-induced protein 1 (endothelial)							55.0	48.0	50.0					17																	26671454		2203	4300	6503	SO:0001583	missense	7126				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr17:26671454G>A		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.779G>A	17.37:g.26671454G>A	ENSP00000226225:p.Arg260His					TNFAIP1_ENST00000544907.2_Missense_Mutation_p.R156H|TNFAIP1_ENST00000583213.1_3'UTR	p.R260H	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	7	1046	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		260					B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	ENST00000226225.2	37	c.779G>A	CCDS11227.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720036	0.89205	.	.	ENSG00000109079	ENST00000226225;ENST00000544907	T	0.55234	0.53	5.65	4.66	0.58398	.	0.131291	0.52532	D	0.000068	T	0.58104	0.2099	M	0.66939	2.045	0.51012	D	0.999902	D	0.54397	0.966	P	0.47044	0.535	T	0.63229	-0.6684	10	0.48119	T	0.1	-8.2606	15.6339	0.76933	0.0:0.1375:0.8625:0.0	.	260	Q13829	BACD2_HUMAN	H	260;156	ENSP00000226225:R260H	ENSP00000226225:R260H	R	+	2	0	TNFAIP1	23695581	0.992000	0.36948	0.921000	0.36526	0.944000	0.59088	5.522000	0.67092	1.585000	0.49928	0.655000	0.94253	CGC		0.587	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		19	49	0	0	0	1	0	19	49				
VSTM4	196740	broad.mit.edu	37	10	50315639	50315639	+	Splice_Site	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:50315639C>T	ENST00000332853.4	-	2	480	c.457G>A	c.(457-459)Gtc>Atc	p.V153I	VSTM4_ENST00000298454.3_Splice_Site_p.G153R	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	153	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGACCCTCACCTCTCATTTCC	0.622																																						ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.e2+1		V-set and transmembrane domain containing 4							92.0	81.0	84.0					10																	50315639		2203	4300	6503	SO:0001630	splice_region_variant	196740					integral to membrane|plasma membrane		g.chr10:50315639C>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.457+1G>A	10.37:g.50315639C>T						VSTM4_ENST00000298454.3_Splice_Site_p.G153_splice	p.V153_splice	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			2	480	-			153			Ig-like.		B4DNI6|Q96MX7	Splice_Site	SNP	ENST00000332853.4	37	c.457_splice	CCDS31198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.543630|4.543630	0.86022|0.86022	.|.	.|.	ENSG00000165633|ENSG00000165633	ENST00000298454|ENST00000332853	T|T	0.14022|0.08807	2.54|3.05	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.126928	.|0.52532	.|D	.|0.000070	T|T	0.14485|0.14485	0.0350|0.0350	M|M	0.61703|0.61703	1.905|1.905	0.40607|0.40607	D|D	0.981632|0.981632	D|P	0.59767|0.51449	0.986|0.945	P|B	0.47981|0.42462	0.563|0.388	T|T	0.01643|0.01643	-1.1305|-1.1305	8|9	.|.	.|.	.|.	-16.4497|-16.4497	19.949|19.949	0.97192|0.97192	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	153|153	Q8IW00-2|Q8IW00	.|VSTM4_HUMAN	R|I	153|153	ENSP00000298454:G153R|ENSP00000331062:V153I	.|.	G|V	-|-	1|1	0|0	VSTM4|VSTM4	49985645|49985645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.638000|0.638000	0.38207|0.38207	6.849000|6.849000	0.75414|0.75414	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GGA|GTC		0.622	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984	Missense_Mutation	11	39	0	0	0	1	0	11	39				
CLDN4	1364	broad.mit.edu	37	7	73245893	73245893	+	Missense_Mutation	SNP	C	C	T	rs138373200	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:73245893C>T	ENST00000435050.1	+	2	3042	c.362C>T	c.(361-363)gCg>gTg	p.A121V	CLDN4_ENST00000431918.1_Missense_Mutation_p.A121V|CLDN4_ENST00000340958.2_Missense_Mutation_p.A121V			O14493	CLD4_HUMAN	claudin 4	121					calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ATGATCGTGGCGGGCGTGGTG	0.607																																						ENST00000435050.1																			0				kidney(2)|lung(4)|urinary_tract(1)	7						c.(361-363)gCg>gTg		claudin 4							76.0	70.0	72.0					7																	73245893		2203	4300	6503	SO:0001583	missense	1364				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	g.chr7:73245893C>T	AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"""Claudins"""	2046	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 1"", ""Williams-Beuren syndrome chromosomal region 8 protein"""	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.362C>T	7.37:g.73245893C>T	ENSP00000409544:p.Ala121Val					CLDN4_ENST00000340958.2_Missense_Mutation_p.A121V|CLDN4_ENST00000431918.1_Missense_Mutation_p.A121V	p.A121V			O14493	CLD4_HUMAN			2	3042	+		Lung NSC(55;0.159)	121						Missense_Mutation	SNP	ENST00000435050.1	37	c.362C>T	CCDS5560.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795648	0.90453	.	.	ENSG00000189143	ENST00000435050;ENST00000431918;ENST00000340958;ENST00000543176	D;D;D	0.91068	-2.78;-2.78;-2.78	5.37	5.37	0.77165	.	0.170432	0.49916	D	0.000123	D	0.96172	0.8752	M	0.90870	3.155	0.58432	D	0.999995	D	0.71674	0.998	D	0.70016	0.967	D	0.96930	0.9680	10	0.87932	D	0	.	16.5932	0.84781	0.0:1.0:0.0:0.0	.	121	O14493	CLD4_HUMAN	V	121;121;121;108	ENSP00000409544:A121V;ENSP00000388639:A121V;ENSP00000342445:A121V	ENSP00000342445:A121V	A	+	2	0	CLDN4	72883829	0.962000	0.33011	0.179000	0.23059	0.590000	0.36582	7.818000	0.86416	2.529000	0.85273	0.561000	0.74099	GCG		0.607	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348030.1	NM_001305		16	33	0	0	0	1	0	16	33				
KIF11	3832	broad.mit.edu	37	10	94405203	94405203	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:94405203G>A	ENST00000260731.3	+	18	2441	c.2351G>A	c.(2350-2352)aGa>aAa	p.R784K		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	784					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGAACTCAGAAATTTTAAC	0.343																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2350-2352)aGa>aAa		kinesin family member 11							51.0	53.0	52.0					10																	94405203		2203	4299	6502	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94405203G>A	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2351G>A	10.37:g.94405203G>A	ENSP00000260731:p.Arg784Lys						p.R784K	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			18	2441	+			784					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.2351G>A	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422260	0.43020	.	.	ENSG00000138160	ENST00000260731	T	0.68331	-0.32	5.78	2.8	0.32819	.	0.303789	0.38217	N	0.001765	T	0.46698	0.1406	L	0.34521	1.04	0.32259	N	0.57037	B	0.10296	0.003	B	0.09377	0.004	T	0.41270	-0.9518	10	0.09843	T	0.71	.	6.2877	0.21043	0.3252:0.0:0.6748:0.0	.	784	P52732	KIF11_HUMAN	K	784	ENSP00000260731:R784K	ENSP00000260731:R784K	R	+	2	0	KIF11	94395183	0.589000	0.26807	0.995000	0.50966	0.980000	0.70556	0.519000	0.22862	0.829000	0.34733	0.591000	0.81541	AGA		0.343	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		24	57	0	0	0	1	0	24	57				
PIAS2	9063	broad.mit.edu	37	18	44409730	44409730	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr18:44409730T>C	ENST00000585916.1	-	10	1302	c.1303A>G	c.(1303-1305)Aaa>Gaa	p.K435E	PIAS2_ENST00000324794.7_Missense_Mutation_p.K435E|PIAS2_ENST00000545673.1_Missense_Mutation_p.K145E	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	435					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CTGGATACTTTCATAGCTTCT	0.388																																						ENST00000585916.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(1303-1305)Aaa>Gaa		protein inhibitor of activated STAT, 2							246.0	249.0	248.0					18																	44409730		2203	4300	6503	SO:0001583	missense	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44409730T>C	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1303A>G	18.37:g.44409730T>C	ENSP00000465676:p.Lys435Glu					PIAS2_ENST00000324794.7_Missense_Mutation_p.K435E|PIAS2_ENST00000545673.1_Missense_Mutation_p.K145E	p.K435E	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN			10	1302	-			435					O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	c.1303A>G	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	T	5.110	0.205868	0.09704	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000545673;ENST00000324794	T;T	0.42513	0.97;1.54	5.67	4.49	0.54785	.	0.045626	0.85682	D	0.000000	T	0.24392	0.0591	N	0.17872	0.535	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.002;0.002;0.003;0.002	T	0.09530	-1.0670	10	0.02654	T	1	-13.7283	12.798	0.57569	0.0:0.0:0.1368:0.8632	.	145;435;435;435	B4DGW0;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	E	435;435;145;435	ENSP00000443238:K145E;ENSP00000317163:K435E	ENSP00000262161:K435E	K	-	1	0	PIAS2	42663728	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.271000	0.51608	0.938000	0.37419	0.455000	0.32223	AAA		0.388	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		50	214	0	0	0	1	0	50	214				
SIDT1	54847	broad.mit.edu	37	3	113285336	113285336	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:113285336C>T	ENST00000264852.4	+	2	1018	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	SIDT1_ENST00000393830.3_Missense_Mutation_p.R98C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	98					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGTTGTGGTTCGCCAGCAGAA	0.493																																						ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(292-294)Cgc>Tgc		SID1 transmembrane family, member 1							245.0	198.0	214.0					3																	113285336		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113285336C>T	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.292C>T	3.37:g.113285336C>T	ENSP00000264852:p.Arg98Cys					SIDT1_ENST00000393830.3_Missense_Mutation_p.R98C	p.R98C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			2	1018	+			98					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.292C>T	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742486	0.89573	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.19532	2.15;2.14	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000015	T	0.45377	0.1339	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.30387	-0.9980	10	0.72032	D	0.01	-11.9542	19.6171	0.95638	0.0:1.0:0.0:0.0	.	98	Q9NXL6	SIDT1_HUMAN	C	98	ENSP00000264852:R98C;ENSP00000377416:R98C	ENSP00000264852:R98C	R	+	1	0	SIDT1	114768026	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.983000	0.70540	2.638000	0.89438	0.462000	0.41574	CGC		0.493	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		30	133	0	0	0	1	0	30	133				
GPRC6A	222545	broad.mit.edu	37	6	117128338	117128338	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:117128338C>A	ENST00000310357.3	-	3	551	c.530G>T	c.(529-531)aGt>aTt	p.S177I	GPRC6A_ENST00000530250.1_Missense_Mutation_p.S177I|GPRC6A_ENST00000368549.3_Missense_Mutation_p.S177I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	177					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AATTTTGTCACTCAGGATTTC	0.408																																						ENST00000310357.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(529-531)aGt>aTt		G protein-coupled receptor, family C, group 6, member A							95.0	101.0	99.0					6																	117128338		2203	4299	6502	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117128338C>A	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.530G>T	6.37:g.117128338C>A	ENSP00000309493:p.Ser177Ile					GPRC6A_ENST00000530250.1_Missense_Mutation_p.S177I|GPRC6A_ENST00000368549.3_Missense_Mutation_p.S177I	p.S177I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	3	551	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	177					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.530G>T	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165078	0.78339	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.89810	-2.57;-2.57;-2.57	5.65	4.78	0.61160	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000003	D	0.94588	0.8256	M	0.90870	3.155	0.36099	D	0.844002	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.994;1.0	D	0.96251	0.9183	10	0.72032	D	0.01	.	14.6438	0.68745	0.0:0.9308:0.0:0.0692	.	177;177;177	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	I	177	ENSP00000309493:S177I;ENSP00000357537:S177I;ENSP00000433465:S177I	ENSP00000309493:S177I	S	-	2	0	GPRC6A	117235031	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.831000	0.69330	1.621000	0.50320	0.655000	0.94253	AGT		0.408	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			26	145	1	0	4.72057e-08	1	4.82665e-08	26	145				
HMCN1	83872	broad.mit.edu	37	1	186045667	186045667	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:186045667G>A	ENST00000271588.4	+	54	8627	c.8398G>A	c.(8398-8400)Gag>Aag	p.E2800K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E2800K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2800	Ig-like C2-type 26.				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						TCTTTACTGTGAGACAAATGC	0.418																																						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.(8398-8400)Gag>Aag		hemicentin 1							157.0	131.0	140.0					1																	186045667		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186045667G>A	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.8398G>A	1.37:g.186045667G>A	ENSP00000271588:p.Glu2800Lys					HMCN1_ENST00000367492.2_Missense_Mutation_p.E2800K	p.E2800K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			54	8627	+			2800			Ig-like C2-type 26.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.8398G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219564	0.95139	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66280	-0.2;-0.2	5.2	5.2	0.72013	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	N	0.13198	0.31	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.59658	-0.7413	10	0.13853	T	0.58	.	19.105	0.93291	0.0:0.0:1.0:0.0	.	2800	Q96RW7	HMCN1_HUMAN	K	2800	ENSP00000271588:E2800K;ENSP00000356462:E2800K	ENSP00000271588:E2800K	E	+	1	0	HMCN1	184312290	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.813000	0.99286	2.567000	0.86603	0.655000	0.94253	GAG		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		21	75	0	0	0	1	0	21	75				
SERPINE1	5054	broad.mit.edu	37	7	100777052	100777052	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:100777052C>G	ENST00000223095.4	+	5	934	c.777C>G	c.(775-777)ttC>ttG	p.F259L	SERPINE1_ENST00000445463.2_Missense_Mutation_p.F244L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	259					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCAGCATGTTCATTGCTGCCC	0.552																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(775-777)ttC>ttG		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						200.0	165.0	177.0					7																	100777052		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100777052C>G	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.777C>G	7.37:g.100777052C>G	ENSP00000223095:p.Phe259Leu					SERPINE1_ENST00000445463.2_Missense_Mutation_p.F244L	p.F259L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			5	934	+	Lung NSC(181;0.136)|all_lung(186;0.182)		259					B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.777C>G	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	C	4.990	0.183857	0.09495	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	D;D	0.82255	-1.59;-1.59	5.67	3.87	0.44632	Serpin domain (3);	0.195783	0.45867	N	0.000324	T	0.57975	0.2090	N	0.04132	-0.27	0.41409	D	0.987729	B;B	0.10296	0.003;0.002	B;B	0.09377	0.003;0.004	T	0.52586	-0.8556	10	0.02654	T	1	.	7.6917	0.28571	0.0:0.7462:0.0:0.2538	.	244;259	F8WD53;P05121	.;PAI1_HUMAN	L	259;244;36	ENSP00000223095:F259L;ENSP00000396766:F244L	ENSP00000223095:F259L	F	+	3	2	SERPINE1	100563772	1.000000	0.71417	0.990000	0.47175	0.908000	0.53690	1.253000	0.32886	0.756000	0.33013	0.561000	0.74099	TTC		0.552	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		19	82	0	0	0	1	0	19	82				
KIAA0754	643314	broad.mit.edu	37	1	39876601	39876601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:39876601C>T	ENST00000530275.1	+	1	451	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	86	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTTAGATTTCAGCAGCACAG	0.433											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(256-258)Cag>Tag		KIAA0754							69.0	70.0	70.0					1																	39876601		1906	4128	6034	SO:0001587	stop_gained	643314							g.chr1:39876601C>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.256C>T	1.37:g.39876601C>T	ENSP00000431179:p.Gln86*		OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron	p.Q86*	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	451	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	86			13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.		E9PMC2|Q6ZSB2	Nonsense_Mutation	SNP	ENST00000530275.1	37	c.256C>T		.	.	.	.	.	.	.	.	.	.	C	17.54	3.414602	0.62511	.	.	ENSG00000255103	ENST00000530275	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.2354	0.43280	0.1511:0.7029:0.146:0.0	.	.	.	.	X	86	.	ENSP00000431179:Q86X	Q	+	1	0	RP4-562N20.1	39649188	0.996000	0.38824	0.998000	0.56505	0.462000	0.32619	1.815000	0.38981	2.206000	0.71126	0.555000	0.69702	CAG		0.433	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		21	76	0	0	0	1	0	21	76				
LMNTD2	256329	broad.mit.edu	37	11	558218	558218	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:558218C>T	ENST00000329451.3	-	4	404	c.342G>A	c.(340-342)caG>caA	p.Q114Q	RASSF7_ENST00000397583.3_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000397582.3_5'Flank|RASSF7_ENST00000344375.4_5'Flank|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000431809.1_5'Flank	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		114										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGACCTGGTTCTGCAGGAGTT	0.627																																						ENST00000329451.3																			0				NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8						c.(340-342)caG>caA		chromosome 11 open reading frame 35							81.0	72.0	75.0					11																	558218		2203	4299	6502	SO:0001819	synonymous_variant	256329							g.chr11:558218C>T																												ENST00000329451.3:c.342G>A	11.37:g.558218C>T						RP11-496I9.1_ENST00000527620.1_RNA	p.Q114Q	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	404	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	114						Silent	SNP	ENST00000329451.3	37	c.342G>A	CCDS7701.1																																																																																				0.627	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			54	76	0	0	0	1	0	54	76				
EML3	256364	broad.mit.edu	37	11	62377166	62377166	+	Missense_Mutation	SNP	C	C	T	rs143147555		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:62377166C>T	ENST00000394773.2	-	5	876	c.569G>A	c.(568-570)cGt>cAt	p.R190H	EML3_ENST00000529309.1_Missense_Mutation_p.R190H|EML3_ENST00000494176.2_Missense_Mutation_p.R162H|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.R191H|EML3_ENST00000531557.1_De_novo_Start_OutOfFrame|ROM1_ENST00000534093.1_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	190						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTTTCCCCCACGGCTGTTGGG	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18378	0.0		0.0	False		,,,				2504	0.0					ENST00000531557.1																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26								echinoderm microtubule associated protein like 3		C	HIS/ARG	0,4404		0,0,2202	112.0	127.0	122.0		569	5.8	1.0	11	dbSNP_134	122	5,8593	5.0+/-18.6	0,5,4294	yes	missense	EML3	NM_153265.2	29	0,5,6496	TT,TC,CC		0.0582,0.0,0.0385	probably-damaging	190/897	62377166	5,12997	2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62377166C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.569G>A	11.37:g.62377166C>T	ENSP00000378254:p.Arg190His					EML3_ENST00000494176.2_Missense_Mutation_p.R162H|EML3_ENST00000529309.1_Missense_Mutation_p.R190H|EML3_ENST00000394773.2_Missense_Mutation_p.R190H|EML3_ENST00000278845.4_Missense_Mutation_p.R191H				Q32P44	EMAL3_HUMAN			0	131	-								Q6ZQW7|Q8NA55	Translation_Start_Site	SNP	ENST00000394773.2	37		CCDS8023.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	18.86	3.713331	0.68730	0.0	5.82E-4	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000494176;ENST00000529309	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.79	5.79	0.91817	.	0.000000	0.53938	D	0.000048	T	0.18551	0.0445	L	0.27053	0.805	0.46222	D	0.998931	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;P;D;D	0.80764	0.909;0.813;0.987;0.994	T	0.00501	-1.1702	10	0.45353	T	0.12	-9.7934	15.5403	0.76039	0.0:1.0:0.0:0.0	.	190;190;191;162	Q32P44-2;Q32P44;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.	H	190;191;162;190	ENSP00000378254:R190H;ENSP00000278845:R191H;ENSP00000435064:R162H;ENSP00000434513:R190H	ENSP00000278845:R191H	R	-	2	0	EML3	62133742	0.997000	0.39634	0.995000	0.50966	0.852000	0.48524	3.549000	0.53681	2.750000	0.94351	0.563000	0.77884	CGT		0.552	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		6	215	0	0	0	1	0	6	215				
UBA7	7318	broad.mit.edu	37	3	49847986	49847986	+	Silent	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:49847986G>C	ENST00000333486.3	-	12	1589	c.1431C>G	c.(1429-1431)ctC>ctG	p.L477L	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	477	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACTGACGGCTGAGATTGGAGC	0.592																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1429-1431)ctC>ctG		ubiquitin-like modifier activating enzyme 7							167.0	163.0	164.0					3																	49847986		2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847986G>C	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1431C>G	3.37:g.49847986G>C							p.L477L	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	12	1589	-			477			2 approximate repeats.		Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.1431C>G	CCDS2805.1																																																																																				0.592	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		54	210	0	0	0	1	0	54	210				
GIMAP8	155038	broad.mit.edu	37	7	150171384	150171384	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:150171384G>A	ENST00000307271.3	+	4	1541	c.967G>A	c.(967-969)Ggc>Agc	p.G323S		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	323	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CATCTGTACAGGCCCCCATGC	0.428																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(967-969)Ggc>Agc		GTPase, IMAP family member 8							61.0	66.0	64.0					7																	150171384		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171384G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.967G>A	7.37:g.150171384G>A	ENSP00000305107:p.Gly323Ser						p.G323S	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	4	1541	+			323						Missense_Mutation	SNP	ENST00000307271.3	37	c.967G>A	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678708	0.68042	.	.	ENSG00000171115	ENST00000307271	T	0.12039	2.72	4.47	4.47	0.54385	AIG1 (1);	0.000000	0.46145	D	0.000319	T	0.48390	0.1497	H	0.96111	3.77	0.44880	D	0.997894	D	0.89917	1.0	D	0.72338	0.977	T	0.62590	-0.6822	10	0.59425	D	0.04	.	12.4943	0.55918	0.0:0.0:1.0:0.0	.	323	Q8ND71	GIMA8_HUMAN	S	323	ENSP00000305107:G323S	ENSP00000305107:G323S	G	+	1	0	GIMAP8	149802317	1.000000	0.71417	0.732000	0.30844	0.214000	0.24535	3.959000	0.56744	2.338000	0.79540	0.650000	0.86243	GGC		0.428	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		14	97	0	0	0	1	0	14	97				
KDM5B	10765	broad.mit.edu	37	1	202698874	202698874	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:202698874G>A	ENST00000367265.3	-	26	5622	c.4458C>T	c.(4456-4458)atC>atT	p.I1486I	KDM5B_ENST00000367264.2_Silent_p.I1522I	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1486					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CAGCTGGGCAGATGGCATCTT	0.507																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4456-4458)atC>atT		lysine (K)-specific demethylase 5B							112.0	107.0	109.0					1																	202698874		2203	4300	6503	SO:0001819	synonymous_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202698874G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4458C>T	1.37:g.202698874G>A						KDM5B_ENST00000367264.2_Silent_p.I1522I	p.I1486I	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			26	5622	-			1486					O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	c.4458C>T	CCDS30974.1																																																																																				0.507	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		28	102	0	0	0	1	0	28	102				
HECTD1	25831	broad.mit.edu	37	14	31602773	31602773	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr14:31602773G>A	ENST00000399332.1	-	23	4175	c.3687C>T	c.(3685-3687)ctC>ctT	p.L1229L	HECTD1_ENST00000553700.1_Silent_p.L1229L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1229					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAGATAATGAGAGGTAGTGTG	0.403																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(3685-3687)ctC>ctT		HECT domain containing E3 ubiquitin protein ligase 1							216.0	202.0	206.0					14																	31602773		1896	4113	6009	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31602773G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.3687C>T	14.37:g.31602773G>A						HECTD1_ENST00000553700.1_Silent_p.L1229L	p.L1229L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	23	4175	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1229					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.3687C>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	8.550	0.875259	0.17395	.	.	ENSG00000092148	ENST00000557369	T	0.45668	0.89	5.45	4.55	0.56014	.	0.000000	0.64402	U	0.000007	T	0.55114	0.1900	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53961	-0.8364	6	.	.	.	-3.2748	16.0454	0.80717	0.0:0.1423:0.8577:0.0	.	.	.	.	F	60	ENSP00000452233:L60F	.	L	-	1	0	HECTD1	30672524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.490000	0.60319	1.279000	0.44446	0.650000	0.86243	CTC		0.403	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			27	109	0	0	0	1	0	27	109				
KDM4B	23030	broad.mit.edu	37	19	5047575	5047575	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:5047575C>T	ENST00000159111.4	+	6	739	c.521C>T	c.(520-522)aCg>aTg	p.T174M	KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.T174M|KDM4B_ENST00000536461.1_Missense_Mutation_p.T174M	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	174	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGCGTGAACACGCCCTACCTG	0.622																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(520-522)aCg>aTg		lysine (K)-specific demethylase 4B							174.0	127.0	143.0					19																	5047575		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5047575C>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.521C>T	19.37:g.5047575C>T	ENSP00000159111:p.Thr174Met					KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.T174M|KDM4B_ENST00000381759.4_Missense_Mutation_p.T174M	p.T174M	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			6	739	+			174			JmjC.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.521C>T	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035124	0.93575	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.72282	-0.64;-0.64;-0.64	4.32	4.32	0.51571	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.87261	0.6133	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	P;D;D	0.87578	0.866;0.998;0.994	D	0.90731	0.4642	10	0.87932	D	0	-38.7489	16.9672	0.86290	0.0:1.0:0.0:0.0	.	174;174;174	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	M	174	ENSP00000159111:T174M;ENSP00000371178:T174M;ENSP00000440495:T174M	ENSP00000159111:T174M	T	+	2	0	KDM4B	4998575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.564000	0.82326	2.223000	0.72356	0.655000	0.94253	ACG		0.622	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		29	98	0	0	0	1	0	29	98				
CCAR2	57805	broad.mit.edu	37	8	22473750	22473750	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr8:22473750G>A	ENST00000308511.4	+	14	2083	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	CCAR2_ENST00000520861.1_Missense_Mutation_p.E287K|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000389279.3_Missense_Mutation_p.E612K			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	612					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										TACAGAGTCAGAGGCCCCGCT	0.612																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(1834-1836)Gag>Aag									60.0	68.0	65.0					8																	22473750		2203	4300	6503	SO:0001583	missense	57805				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22473750G>A	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1834G>A	8.37:g.22473750G>A	ENSP00000310670:p.Glu612Lys					KIAA1967_ENST00000389279.3_Missense_Mutation_p.E612K|RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Missense_Mutation_p.E287K	p.E612K			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	14	2083	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	612					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	c.1834G>A	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	G	9.360	1.067737	0.20067	.	.	ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861	T;T;T	0.28895	1.59;1.59;1.6	5.54	4.67	0.58626	.	0.448029	0.24222	N	0.040434	T	0.13114	0.0318	N	0.03608	-0.345	0.39968	D	0.974752	B;B	0.22211	0.066;0.006	B;B	0.21708	0.036;0.005	T	0.13872	-1.0493	10	0.15499	T	0.54	-16.9314	10.0591	0.42263	0.0899:0.0:0.9101:0.0	.	287;612	G3V119;Q8N163	.;K1967_HUMAN	K	612;612;287	ENSP00000310670:E612K;ENSP00000373930:E612K;ENSP00000429773:E287K	ENSP00000310670:E612K	E	+	1	0	KIAA1967	22529695	1.000000	0.71417	0.907000	0.35723	0.078000	0.17371	4.334000	0.59291	1.567000	0.49668	0.655000	0.94253	GAG		0.612	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		35	81	0	0	0	1	0	35	81				
BRPF3	27154	broad.mit.edu	37	6	36168550	36168550	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:36168550G>A	ENST00000357641.6	+	2	704	c.451G>A	c.(451-453)Gag>Aag	p.E151K	BRPF3_ENST00000543502.1_Missense_Mutation_p.E151K|BRPF3_ENST00000339717.7_Missense_Mutation_p.E151K|BRPF3_ENST00000443324.2_Missense_Mutation_p.E151K|BRPF3_ENST00000534400.1_Missense_Mutation_p.E151K|BRPF3_ENST00000534694.1_Missense_Mutation_p.E151K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	151					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCTGGATGCAGAGGTAGAGTA	0.547																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(451-453)Gag>Aag		bromodomain and PHD finger containing, 3							104.0	83.0	90.0					6																	36168550		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36168550G>A	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.451G>A	6.37:g.36168550G>A	ENSP00000350267:p.Glu151Lys					BRPF3_ENST00000534694.1_Missense_Mutation_p.E151K|BRPF3_ENST00000443324.2_Missense_Mutation_p.E151K|BRPF3_ENST00000534400.1_Missense_Mutation_p.E151K|BRPF3_ENST00000339717.7_Missense_Mutation_p.E151K|BRPF3_ENST00000543502.1_Missense_Mutation_p.E151K	p.E151K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			2	704	+			151					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.451G>A	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957631	0.53400	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.84	5.84	0.93424	Enhancer of polycomb-like, N-terminal (1);	0.354795	0.30356	N	0.009801	T	0.43144	0.1234	M	0.62209	1.925	0.44194	D	0.997015	B;B;P	0.36354	0.157;0.157;0.549	B;B;B	0.38378	0.091;0.091;0.272	T	0.49624	-0.8920	10	0.87932	D	0	.	20.1906	0.98230	0.0:0.0:1.0:0.0	.	151;151;151	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	K	151	ENSP00000350267:E151K;ENSP00000345419:E151K;ENSP00000434501:E151K;ENSP00000445352:E151K;ENSP00000387368:E151K;ENSP00000436504:E151K	ENSP00000345419:E151K	E	+	1	0	BRPF3	36276528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.892000	0.69790	2.776000	0.95493	0.558000	0.71614	GAG		0.547	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		13	51	0	0	0	1	0	13	51				
LEF1	51176	broad.mit.edu	37	4	109086270	109086270	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:109086270C>T	ENST00000265165.1	-	2	917	c.263G>A	c.(262-264)aGa>aAa	p.R88K	LEF1_ENST00000510624.1_Missense_Mutation_p.R20K|LEF1_ENST00000438313.2_Missense_Mutation_p.R88K|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000379951.2_Missense_Mutation_p.R88K|LEF1_ENST00000512172.1_Missense_Mutation_p.R20K	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	88	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GGGGTGTTCTCTGGCCTTGTC	0.443																																						ENST00000379951.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.(262-264)aGa>aAa		lymphoid enhancer-binding factor 1							252.0	210.0	224.0					4																	109086270		2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109086270C>T		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.263G>A	4.37:g.109086270C>T	ENSP00000265165:p.Arg88Lys					LEF1_ENST00000512172.1_Missense_Mutation_p.R20K|LEF1_ENST00000438313.2_Missense_Mutation_p.R88K|LEF1_ENST00000510624.1_Missense_Mutation_p.R20K|LEF1_ENST00000265165.1_Missense_Mutation_p.R88K	p.R88K	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	2	1451	-			88			Pro-rich.		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.263G>A	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491600	0.64074	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	D;D;D;D	0.99353	-5.61;-5.59;-5.58;-5.77	5.8	5.8	0.92144	CTNNB1 binding, N-teminal (1);	0.043440	0.85682	D	0.000000	D	0.98529	0.9509	L	0.51914	1.62	0.49213	D	0.999765	P;P;B;P	0.36753	0.568;0.512;0.007;0.51	B;B;B;B	0.42245	0.171;0.199;0.013;0.381	D	0.99198	1.0872	10	0.51188	T	0.08	-1.4885	20.0693	0.97712	0.0:1.0:0.0:0.0	.	20;88;88;88	E9PDK3;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;LEF1_HUMAN	K	88;88;88;20;20;20	ENSP00000265165:R88K;ENSP00000369284:R88K;ENSP00000406176:R88K;ENSP00000422840:R20K	ENSP00000265165:R88K	R	-	2	0	LEF1	109305719	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.765000	0.55272	2.758000	0.94735	0.563000	0.77884	AGA		0.443	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			28	98	0	0	0	1	0	28	98				
TTN	7273	broad.mit.edu	37	2	179615321	179615321	+	Intron	SNP	G	G	A	rs147087155		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:179615321G>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Nonsense_Mutation_p.R3936*|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCGTTTTCGAAAAGAATTT	0.353																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(11806-11808)Cga>Tga		titin							37.0	37.0	37.0					2																	179615321		2200	4295	6495	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615321G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2529C>T	2.37:g.179615321G>A						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron	p.R3936*	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12028	-			9753					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.11806C>T		.	.	.	.	.	.	.	.	.	.	G	53	20.882134	0.99935	.	.	ENSG00000155657	ENST00000360870	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	12.7297	0.57191	0.0796:0.0:0.9204:0.0	.	.	.	.	X	3936	.	ENSP00000354117:R3936X	R	-	1	2	TTN	179323566	0.894000	0.30519	0.152000	0.22495	0.017000	0.09413	4.134000	0.57990	2.767000	0.95098	0.655000	0.94253	CGA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	67	0	0	0	1	0	21	67				
LIMK2	3985	broad.mit.edu	37	22	31662976	31662976	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:31662976C>T	ENST00000331728.4	+	9	1162	c.1048C>T	c.(1048-1050)Cac>Tac	p.H350Y	LIMK2_ENST00000406516.1_Missense_Mutation_p.H272Y|LIMK2_ENST00000340552.4_Missense_Mutation_p.H329Y|LIMK2_ENST00000444929.2_Missense_Mutation_p.H104Y|LIMK2_ENST00000333611.4_Missense_Mutation_p.H329Y	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GTAGGTGACACACAAAGCCAC	0.488																																						ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(1048-1050)Cac>Tac		LIM domain kinase 2							68.0	54.0	58.0					22																	31662976		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31662976C>T	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1048C>T	22.37:g.31662976C>T	ENSP00000332687:p.His350Tyr					LIMK2_ENST00000406516.1_Missense_Mutation_p.H272Y|LIMK2_ENST00000340552.4_Missense_Mutation_p.H329Y|LIMK2_ENST00000444929.2_Missense_Mutation_p.H104Y|LIMK2_ENST00000333611.4_Missense_Mutation_p.H329Y	p.H350Y	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			9	1162	+			350			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.1048C>T	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	31	5.083379	0.94050	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;D;D;D;T	0.81739	-0.24;-1.53;-1.53;-1.53;-0.24	5.76	5.76	0.90799	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87079	0.6088	L	0.45285	1.41	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.91635	0.997;0.998;0.999;0.999;0.992	D	0.87654	0.2530	10	0.87932	D	0	-38.1506	18.9523	0.92645	0.0:1.0:0.0:0.0	.	382;329;104;350;272	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	Y	272;104;350;382;329;329	ENSP00000384602:H272Y;ENSP00000409522:H104Y;ENSP00000332687:H350Y;ENSP00000330470:H329Y;ENSP00000339916:H329Y	ENSP00000332687:H350Y	H	+	1	0	LIMK2	29992976	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.719000	0.93026	0.650000	0.86243	CAC		0.488	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		9	30	0	0	0	1	0	9	30				
PDE4B	5142	broad.mit.edu	37	1	66833738	66833738	+	Missense_Mutation	SNP	A	A	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:66833738A>T	ENST00000329654.4	+	15	1839	c.1652A>T	c.(1651-1653)gAt>gTt	p.D551V	PDE4B_ENST00000480109.2_Missense_Mutation_p.D318V|PDE4B_ENST00000423207.2_Missense_Mutation_p.D536V|PDE4B_ENST00000371049.3_Missense_Mutation_p.D551V|PDE4B_ENST00000371045.5_Missense_Mutation_p.D379V	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	551					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AACTATACCGATCGCATTCAG	0.363																																						ENST00000423207.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(1606-1608)gAt>gTt		phosphodiesterase 4B, cAMP-specific	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						78.0	77.0	78.0					1																	66833738		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66833738A>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1652A>T	1.37:g.66833738A>T	ENSP00000332116:p.Asp551Val					PDE4B_ENST00000371045.5_Missense_Mutation_p.D379V|PDE4B_ENST00000371049.3_Missense_Mutation_p.D551V|PDE4B_ENST00000329654.4_Missense_Mutation_p.D551V|PDE4B_ENST00000480109.2_Missense_Mutation_p.D318V	p.D536V	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN			13	2092	+			551					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.1607A>T	CCDS632.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.355432	0.61293	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.11	5.11	0.69529	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	M	0.91612	3.225	0.80722	D	1	D;D;D;D;D	0.71674	0.995;0.998;0.998;0.998;0.998	D;D;D;D;D	0.77557	0.96;0.961;0.977;0.99;0.983	D	0.88546	0.3113	10	0.87932	D	0	.	15.0639	0.71977	1.0:0.0:0.0:0.0	.	318;536;421;541;551	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	V	551;551;551;536;379;318	ENSP00000332116:D551V;ENSP00000342637:D551V;ENSP00000360088:D551V;ENSP00000392947:D536V;ENSP00000360084:D379V;ENSP00000432592:D318V	ENSP00000332116:D551V	D	+	2	0	PDE4B	66606326	1.000000	0.71417	0.988000	0.46212	0.453000	0.32348	9.126000	0.94411	2.143000	0.66587	0.482000	0.46254	GAT		0.363	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		4	64	0	0	0	1	0	4	64				
LRRC71	149499	broad.mit.edu	37	1	156897772	156897772	+	Silent	SNP	A	A	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:156897772A>G	ENST00000337428.7	+	9	1126	c.972A>G	c.(970-972)aaA>aaG	p.K324K	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	324										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						TGCTGGAAAAAGGGACACAGG	0.677											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337428.7																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						c.(970-972)aaA>aaG		leucine rich repeat containing 71							25.0	37.0	33.0					1																	156897772		1978	4130	6108	SO:0001819	synonymous_variant	149499							g.chr1:156897772A>G	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.972A>G	1.37:g.156897772A>G			OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	LRRC71_ENST00000490146.1_3'UTR	p.K324K	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN			9	1126	+			324					Q96M24	Silent	SNP	ENST00000337428.7	37	c.972A>G	CCDS44249.1																																																																																				0.677	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		3	31	0	0	0	1	0	3	31				
CRY2	1408	broad.mit.edu	37	11	45892066	45892066	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:45892066C>T	ENST00000443527.2	+	9	1617	c.1595C>T	c.(1594-1596)tCg>tTg	p.S532L	CRY2_ENST00000417225.2_Missense_Mutation_p.S450L	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	511					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CAGCAGCTTTCGCGCTACCGG	0.542																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(1594-1596)tCg>tTg		cryptochrome 2 (photolyase-like)							64.0	57.0	59.0					11																	45892066		2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45892066C>T	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1595C>T	11.37:g.45892066C>T	ENSP00000406751:p.Ser532Leu					CRY2_ENST00000417225.2_Missense_Mutation_p.S450L	p.S532L	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			9	1617	+			511					B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.1595C>T	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592828	0.66219	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	L	0.27053	0.805	0.80722	D	1	B;B;B	0.33528	0.069;0.416;0.113	B;B;B	0.27076	0.04;0.059;0.076	T	0.47898	-0.9081	9	0.52906	T	0.07	-26.2606	19.6937	0.96012	0.0:1.0:0.0:0.0	.	511;532;450	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	L	450;532	.	ENSP00000397419:S450L	S	+	2	0	CRY2	45848642	1.000000	0.71417	0.332000	0.25469	0.851000	0.48451	4.912000	0.63335	2.665000	0.90641	0.655000	0.94253	TCG		0.542	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		13	40	0	0	0	1	0	13	40				
CCNA1	8900	broad.mit.edu	37	13	37006796	37006796	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr13:37006796C>G	ENST00000255465.4	+	1	302	c.38C>G	c.(37-39)tCt>tGt	p.S13C	CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000418263.1_Missense_Mutation_p.S13C|CCNA1_ENST00000449823.1_Intron			P78396	CCNA1_HUMAN	cyclin A1	13					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TACCCTGGATCTTTTATTGGG	0.587																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(37-39)tCt>tGt		cyclin A1							49.0	48.0	48.0					13																	37006796		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37006796C>G	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.38C>G	13.37:g.37006796C>G	ENSP00000255465:p.Ser13Cys					CCNA1_ENST00000255465.4_Missense_Mutation_p.S13C|CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000449823.1_Intron	p.S13C	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	1	388	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	13					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.38C>G	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572043	0.28092	.	.	ENSG00000133101	ENST00000418263;ENST00000255465	T;T	0.15487	2.42;2.42	2.49	2.49	0.30216	.	.	.	.	.	T	0.10551	0.0258	N	0.08118	0	0.22412	N	0.999123	P;P	0.45531	0.86;0.781	B;B	0.44163	0.443;0.258	T	0.14062	-1.0486	9	0.87932	D	0	.	8.4777	0.33023	0.0:1.0:0.0:0.0	.	13;13	P78396-2;P78396	.;CCNA1_HUMAN	C	13	ENSP00000396479:S13C;ENSP00000255465:S13C	ENSP00000255465:S13C	S	+	2	0	CCNA1	35904796	0.051000	0.20477	0.106000	0.21319	0.018000	0.09664	1.354000	0.34056	1.387000	0.46486	0.561000	0.74099	TCT		0.587	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		6	34	0	0	0	1	0	6	34				
LANCL3	347404	broad.mit.edu	37	X	37431383	37431383	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:37431383C>T	ENST00000378619.3	+	1	479	c.260C>T	c.(259-261)aCg>aTg	p.T87M	TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378621.3_Missense_Mutation_p.T87M	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	87							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						CTTTTCGCCACGGCCCGGGAA	0.721																																						ENST00000378621.3																			0				lung(4)|pancreas(1)	5						c.(259-261)aCg>aTg		LanC lantibiotic synthetase component C-like 3 (bacterial)							9.0	8.0	8.0					X																	37431383		2079	4079	6158	SO:0001583	missense	347404						catalytic activity	g.chrX:37431383C>T	AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.260C>T	X.37:g.37431383C>T	ENSP00000367882:p.Thr87Met					LANCL3_ENST00000378619.3_Missense_Mutation_p.T87M|TM4SF2_ENST00000465127.1_Intron	p.T87M	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN			1	562	+			87					A6NHE3	Missense_Mutation	SNP	ENST00000378619.3	37	c.260C>T	CCDS55398.1	.	.	.	.	.	.	.	.	.	.	C	3.909	-0.020551	0.07634	.	.	ENSG00000147036	ENST00000378621;ENST00000378619	T;T	0.52057	0.68;0.68	4.62	2.79	0.32731	.	0.957309	0.08692	N	0.907858	T	0.35480	0.0933	N	0.14661	0.345	0.09310	N	1	B;B	0.33120	0.391;0.398	B;B	0.34991	0.193;0.007	T	0.29701	-1.0003	10	0.44086	T	0.13	0.0054	13.5967	0.61994	0.0:0.7108:0.2892:0.0	.	87;87	Q6ZV70;Q6ZV70-2	LANC3_HUMAN;.	M	87	ENSP00000367885:T87M;ENSP00000367882:T87M	ENSP00000367882:T87M	T	+	2	0	LANCL3	37316302	0.956000	0.32656	0.007000	0.13788	0.010000	0.07245	0.901000	0.28445	0.228000	0.21019	0.476000	0.43555	ACG		0.721	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080885.1	NM_198511		4	35	0	0	0	1	0	4	35				
TCOF1	6949	broad.mit.edu	37	5	149754329	149754329	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr5:149754329G>A	ENST00000504761.2	+	9	1233	c.1233G>A	c.(1231-1233)caG>caA	p.Q411Q	TCOF1_ENST00000451292.1_Silent_p.Q411Q|TCOF1_ENST00000445265.2_Silent_p.Q334Q|TCOF1_ENST00000513346.1_Silent_p.Q411Q|TCOF1_ENST00000377797.3_Silent_p.Q411Q|TCOF1_ENST00000439160.2_Silent_p.Q411Q|TCOF1_ENST00000323668.7_Silent_p.Q334Q|TCOF1_ENST00000394269.3_Silent_p.Q411Q			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	411					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGACTCGCAGAGCAGCAGCG	0.677																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1231-1233)caG>caA		Treacher Collins-Franceschetti syndrome 1							48.0	53.0	51.0					5																	149754329		2203	4300	6503	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149754329G>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1233G>A	5.37:g.149754329G>A						TCOF1_ENST00000513346.1_Silent_p.Q411Q|TCOF1_ENST00000504761.2_Silent_p.Q411Q|TCOF1_ENST00000394269.3_Silent_p.Q411Q|TCOF1_ENST00000377797.3_Silent_p.Q411Q|TCOF1_ENST00000439160.2_Silent_p.Q411Q|TCOF1_ENST00000445265.2_Silent_p.Q334Q|TCOF1_ENST00000323668.7_Silent_p.Q334Q	p.Q411Q			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1341	+		all_hematologic(541;0.224)	411					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.1233G>A	CCDS54936.1																																																																																				0.677	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		7	21	0	0	0	1	0	7	21				
AMPH	273	broad.mit.edu	37	7	38502594	38502594	+	Missense_Mutation	SNP	C	C	T	rs147284975		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:38502594C>T	ENST00000356264.2	-	10	1084	c.869G>A	c.(868-870)cGg>cAg	p.R290Q	AMPH_ENST00000428293.2_Missense_Mutation_p.R290Q|AMPH_ENST00000325590.5_Missense_Mutation_p.R290Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	290					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGACCGAGGCCGTGCTGGTGC	0.552																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(868-870)cGg>cAg		amphiphysin		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	143.0	136.0	138.0		869,869	6.2	0.8	7	dbSNP_134	138	0,8600		0,0,4300	no	missense,missense	AMPH	NM_001635.3,NM_139316.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	290/696,290/654	38502594	1,13005	2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38502594C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.869G>A	7.37:g.38502594C>T	ENSP00000348602:p.Arg290Gln					AMPH_ENST00000325590.5_Missense_Mutation_p.R290Q|AMPH_ENST00000428293.2_Missense_Mutation_p.R290Q	p.R290Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			10	1084	-			290					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.869G>A	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584520	0.86748	2.27E-4	0.0	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	T;T;T	0.47528	0.84;0.84;0.84	6.17	6.17	0.99709	.	0.059451	0.64402	D	0.000002	T	0.65903	0.2736	L	0.57536	1.79	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.53746	-0.8395	10	0.14656	T	0.56	-22.0619	20.8794	0.99867	0.0:1.0:0.0:0.0	.	290;290;46	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	Q	290;290;290;60;293	ENSP00000317441:R290Q;ENSP00000348602:R290Q;ENSP00000390734:R290Q	ENSP00000317441:R290Q	R	-	2	0	AMPH	38469119	1.000000	0.71417	0.794000	0.32065	0.687000	0.40016	6.321000	0.72881	2.941000	0.99782	0.655000	0.94253	CGG		0.552	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		28	81	0	0	0	1	0	28	81				
PC	5091	broad.mit.edu	37	11	66638908	66638908	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:66638908G>C	ENST00000393958.2	-	5	458	c.365C>G	c.(364-366)tCt>tGt	p.S122C	PC_ENST00000393955.2_Missense_Mutation_p.S122C|PC_ENST00000393960.1_Missense_Mutation_p.S122C|PC_ENST00000355677.3_Missense_Mutation_p.S122C|PC_ENST00000524491.1_Missense_Mutation_p.S82C	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	122	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGCTCGCTCAGAGAGGAACCC	0.632																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(364-366)tCt>tGt		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						87.0	93.0	91.0					11																	66638908		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66638908G>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.365C>G	11.37:g.66638908G>C	ENSP00000377530:p.Ser122Cys					PC_ENST00000393955.2_Missense_Mutation_p.S122C|PC_ENST00000393958.2_Missense_Mutation_p.S122C|PC_ENST00000355677.3_Missense_Mutation_p.S122C|PC_ENST00000524491.1_Missense_Mutation_p.S82C	p.S122C	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	6	646	-		Melanoma(852;0.0525)	122			Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.365C>G	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806441	0.90623	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79	4.76	4.76	0.60689	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.98710	0.9567	H	0.98918	4.37	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.99271	1.0893	10	0.87932	D	0	-11.4707	15.3076	0.74004	0.0:0.0:1.0:0.0	.	122	P11498	PYC_HUMAN	C	122;122;122;82;122	ENSP00000377527:S122C;ENSP00000377530:S122C;ENSP00000377532:S122C;ENSP00000434192:S82C;ENSP00000347900:S122C	ENSP00000347900:S122C	S	-	2	0	PC	66395484	1.000000	0.71417	0.933000	0.37362	0.925000	0.55904	8.614000	0.90917	2.472000	0.83506	0.655000	0.94253	TCT		0.632	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		28	113	0	0	0	1	0	28	113				
NETO2	81831	broad.mit.edu	37	16	47156636	47156636	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:47156636C>G	ENST00000562435.1	-	6	970	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	NETO2_ENST00000303155.5_Missense_Mutation_p.E189Q|snoU13_ENST00000458876.1_RNA	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	196	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GTTTTCTCCTCTTGTTCTACC	0.438										HNSCC(25;0.065)																												ENST00000562435.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29						c.(586-588)Gag>Cag		neuropilin (NRP) and tolloid (TLL)-like 2							171.0	135.0	147.0					16																	47156636		2203	4300	6503	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47156636C>G	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.586G>C	16.37:g.47156636C>G	ENSP00000455169:p.Glu196Gln	HNSCC(25;0.065)				NETO2_ENST00000303155.5_Missense_Mutation_p.E189Q	p.E196Q	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN			6	970	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	196			CUB 2.		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.586G>C	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602412	0.66445	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.64	4.69	0.59074	CUB (5);	0.152735	0.56097	D	0.000025	T	0.63896	0.2550	L	0.46741	1.465	0.58432	D	0.999992	P;P;P	0.36753	0.482;0.568;0.568	P;B;B	0.44811	0.461;0.229;0.229	T	0.66524	-0.5902	9	0.59425	D	0.04	.	14.7345	0.69406	0.0:0.9305:0.0:0.0695	.	53;189;196	B7Z4I7;Q32NC3;Q8NC67	.;.;NETO2_HUMAN	Q	196	.	ENSP00000306726:E196Q	E	-	1	0	NETO2	45714137	1.000000	0.71417	0.970000	0.41538	0.616000	0.37450	5.846000	0.69444	1.391000	0.46566	-0.157000	0.13467	GAG		0.438	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		45	131	0	0	0	1	0	45	131				
STEAP2-AS1	100874100	broad.mit.edu	37	7	89749009	89749009	+	RNA	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:89749009G>A	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA					STEAP2 antisense RNA 1																		AGGTCCTTCCGGCGGAGGATC	0.642																																						ENST00000478318.2																			0																																																			100874100							g.chr7:89749009G>A			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89749009G>A						RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA								0	424	-									RNA	SNP	ENST00000478318.2	37																																																																																						0.642	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			5	19	0	0	0	1	0	5	19				
KCNJ6	3763	broad.mit.edu	37	21	39086695	39086695	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr21:39086695C>T	ENST00000609713.1	-	3	1354	c.765G>A	c.(763-765)ttG>ttA	p.L255L	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Silent_p.L255L	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	255					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCGTCTGGTTCAACGGGATGA	0.502																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(763-765)ttG>ttA		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						112.0	113.0	112.0					21																	39086695		1910	4143	6053	SO:0001819	synonymous_variant	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39086695C>T	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.765G>A	21.37:g.39086695C>T						KCNJ6_ENST00000288309.6_Silent_p.L255L	p.L255L	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			3	1354	-			255					Q3MJ74|Q53WW6	Silent	SNP	ENST00000609713.1	37	c.765G>A	CCDS42927.1																																																																																				0.502	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		31	101	0	0	0	1	0	31	101				
EIF4ENIF1	56478	broad.mit.edu	37	22	31850333	31850333	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:31850333C>T	ENST00000397525.1	-	10	1532	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.E274K|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.E116K|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.E437K|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.E437K|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	437						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTTCTACCTCCTCCACTGAA	0.463																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1309-1311)Gag>Aag		eukaryotic translation initiation factor 4E nuclear import factor 1							91.0	79.0	83.0					22																	31850333		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31850333C>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1309G>A	22.37:g.31850333C>T	ENSP00000380659:p.Glu437Lys					RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.E116K|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.E274K|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.E437K|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.E437K	p.E437K	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			10	1532	-			437					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1309G>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345001	0.95807	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.17	6.17	0.99709	.	0.045389	0.85682	D	0.000000	T	0.77605	0.4155	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.76494	0.993;0.999;0.995;0.999	P;D;D;D	0.81914	0.824;0.995;0.91;0.968	T	0.72394	-0.4307	9	0.30854	T	0.27	-22.0694	18.0354	0.89301	0.0:1.0:0.0:0.0	.	274;437;274;437	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	K	274;437;437;437;116;35	.	ENSP00000328103:E437K	E	-	1	0	EIF4ENIF1	30180333	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.298000	0.78815	2.941000	0.99782	0.655000	0.94253	GAG		0.463	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		15	62	0	0	0	1	0	15	62				
KRT19P2	160313	broad.mit.edu	37	12	95228661	95228661	+	RNA	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:95228661G>C	ENST00000405395.2	+	0	432				MIR492_ENST00000385303.1_RNA	NR_036685.1				keratin 19 pseudogene 2																		GCACCCTCCAGGGTCTTGAGA	0.567																																						ENST00000405395.2																			0																																																			160313							g.chr12:95228661G>C			12q22	2013-06-25			ENSG00000216306	ENSG00000216306			33423	pseudogene	pseudogene			"""keratin 19 pseudogene 5"""	KRT19P5			Standard	NR_036685		Approved		uc001tdk.2		OTTHUMG00000170700		12.37:g.95228661G>C								NR_036685.1						0	432	+									RNA	SNP	ENST00000405395.2	37																																																																																						0.567	KRT19P2-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000410053.1	NT_019546		5	4	0	0	0	1	0	5	4				
TMEM145	284339	broad.mit.edu	37	19	42827747	42827747	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:42827747C>T	ENST00000301204.3	+	14	1248	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S	MEGF8_ENST00000251268.6_5'Flank|MEGF8_ENST00000334370.4_5'Flank	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	403					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CATGACCCGCCCATCAGCGGC	0.627																																						ENST00000301204.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(1207-1209)Cca>Tca		transmembrane protein 145							53.0	47.0	49.0					19																	42827747		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42827747C>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1207C>T	19.37:g.42827747C>T	ENSP00000301204:p.Pro403Ser						p.P403S	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN			14	1248	+		Prostate(69;0.00682)	403						Missense_Mutation	SNP	ENST00000301204.3	37	c.1207C>T	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020506	0.75275	.	.	ENSG00000167619	ENST00000301204	T	0.62788	0.0	4.83	4.83	0.62350	.	0.211498	0.39759	N	0.001275	T	0.64011	0.2560	M	0.61703	1.905	0.58432	D	0.999999	D	0.54207	0.965	P	0.44647	0.456	T	0.71388	-0.4608	10	0.87932	D	0	-11.6808	15.7873	0.78315	0.0:1.0:0.0:0.0	.	403	Q8NBT3	TM145_HUMAN	S	403	ENSP00000301204:P403S	ENSP00000301204:P403S	P	+	1	0	TMEM145	47519587	1.000000	0.71417	0.913000	0.36048	0.592000	0.36648	6.607000	0.74163	2.398000	0.81561	0.655000	0.94253	CCA		0.627	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		12	40	0	0	0	1	0	12	40				
HECTD4	283450	broad.mit.edu	37	12	112622357	112622357	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr12:112622357G>A	ENST00000430131.2	-	60	10292	c.9147C>T	c.(9145-9147)gtC>gtT	p.V3049V	HECTD4_ENST00000550722.1_Silent_p.V3325V|HECTD4_ENST00000377560.5_Silent_p.V3299V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3049					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGGACGTGCTGACCTCCATGC	0.632																																						ENST00000550722.1																			0											c.(9973-9975)gtC>gtT		HECT domain containing E3 ubiquitin protein ligase 4							50.0	65.0	60.0					12																	112622357		2196	4289	6485	SO:0001819	synonymous_variant	283450							g.chr12:112622357G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9147C>T	12.37:g.112622357G>A						HECTD4_ENST00000430131.2_Silent_p.V3049V|HECTD4_ENST00000377560.5_Silent_p.V3299V	p.V3325V	NM_001109662.3	NP_001103132.3					61	10370	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.9975C>T																																																																																					0.632	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		12	30	0	0	0	1	0	12	30				
NLRX1	79671	broad.mit.edu	37	11	119054012	119054012	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:119054012G>A	ENST00000409109.1	+	10	3379	c.2792G>A	c.(2791-2793)cGa>cAa	p.R931Q	NLRX1_ENST00000525863.1_Intron|PDZD3_ENST00000392817.2_5'Flank|PDZD3_ENST00000355547.5_5'Flank|PDZD3_ENST00000322712.4_5'Flank|NLRX1_ENST00000409991.1_Missense_Mutation_p.R931Q|NLRX1_ENST00000409265.4_Intron|PDZD3_ENST00000525131.1_5'Flank|NLRX1_ENST00000292199.2_Missense_Mutation_p.R931Q|PDZD3_ENST00000531114.1_5'Flank	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	931	LRRCT.|Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CGGGTTCAGCGACACCTTGAG	0.612																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2791-2793)cGa>cAa		NLR family member X1							89.0	86.0	87.0					11																	119054012		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119054012G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2792G>A	11.37:g.119054012G>A	ENSP00000387334:p.Arg931Gln					NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000292199.2_Missense_Mutation_p.R931Q|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000409991.1_Missense_Mutation_p.R931Q|NLRX1_ENST00000469103.2_3'UTR	p.R931Q			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	10	3379	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	931			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.2792G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747977	0.30955	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409109	T;T;T	0.68903	-0.36;-0.36;-0.36	5.48	5.48	0.80851	.	0.167469	0.39407	N	0.001380	T	0.51601	0.1684	L	0.29908	0.895	0.80722	D	1	B	0.14012	0.009	B	0.04013	0.001	T	0.45760	-0.9239	10	0.24483	T	0.36	.	10.4824	0.44702	0.1188:0.0:0.8812:0.0	.	931	Q86UT6	NLRX1_HUMAN	Q	931	ENSP00000386851:R931Q;ENSP00000292199:R931Q;ENSP00000387334:R931Q	ENSP00000292199:R931Q	R	+	2	0	NLRX1	118559222	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	4.919000	0.63383	2.566000	0.86566	0.655000	0.94253	CGA		0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		23	83	0	0	0	1	0	23	83				
UNC5B	219699	broad.mit.edu	37	10	73046445	73046445	+	Splice_Site	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:73046445G>A	ENST00000335350.6	+	5	968		c.e5-1		UNC5B_ENST00000373192.4_Splice_Site	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CACTCTTGCAGGTGGAATGGC	0.582																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.e5-1		unc-5 homolog B (C. elegans)							171.0	147.0	155.0					10																	73046445		2203	4300	6503	SO:0001630	splice_region_variant	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73046445G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.553-1G>A	10.37:g.73046445G>A						UNC5B_ENST00000373192.4_Splice_Site		NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			5	968	+								Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Splice_Site	SNP	ENST00000335350.6	37		CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474102	0.84640	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2373	0.93866	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC5B	72716451	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.869000	0.99810	2.557000	0.86248	0.555000	0.69702	.		0.582	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744	Intron	7	160	0	0	0	1	0	7	160				
KIF11	3832	broad.mit.edu	37	10	94405303	94405303	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:94405303G>A	ENST00000260731.3	+	18	2541	c.2451G>A	c.(2449-2451)caG>caA	p.Q817Q		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	817					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGACTGAACAGAGATGTGAAT	0.353																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2449-2451)caG>caA		kinesin family member 11							72.0	75.0	74.0					10																	94405303		2203	4300	6503	SO:0001819	synonymous_variant	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94405303G>A	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2451G>A	10.37:g.94405303G>A							p.Q817Q	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			18	2541	+			817					A0AV49|B2RMV3|Q15716|Q5VWX0	Silent	SNP	ENST00000260731.3	37	c.2451G>A	CCDS7422.1																																																																																				0.353	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		20	77	0	0	0	1	0	20	77				
HM13	81502	broad.mit.edu	37	20	30155980	30155980	+	Intron	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr20:30155980G>A	ENST00000340852.5	+	12	1158				HM13-AS1_ENST00000412178.1_RNA|HM13_ENST00000492709.1_Intron|HM13_ENST00000398174.3_Silent_p.Q378Q|HM13_ENST00000376127.3_Intron|HM13_ENST00000335574.5_Silent_p.Q378Q	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13						membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CCATGCAGCAGAAGCTAGCTG	0.701																																						ENST00000335574.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1132-1134)caG>caA		histocompatibility (minor) 13							28.0	27.0	27.0					20																	30155980		2203	4300	6503	SO:0001627	intron_variant	81502				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr20:30155980G>A	AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.1035-943G>A	20.37:g.30155980G>A						HM13_ENST00000376127.3_Intron|HM13_ENST00000492709.1_Intron|HM13_ENST00000398174.3_Silent_p.Q378Q|HM13-AS1_ENST00000412178.1_RNA|HM13_ENST00000340852.5_Intron	p.Q378Q	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		12	1258	+	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		374					B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Silent	SNP	ENST00000340852.5	37	c.1134G>A	CCDS13182.1																																																																																				0.701	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580		7	29	0	0	0	1	0	7	29				
TRIML1	339976	broad.mit.edu	37	4	189060730	189060730	+	Silent	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:189060730G>C	ENST00000332517.3	+	1	158	c.18G>C	c.(16-18)ctG>ctC	p.L6L	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	6					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAGCAGATCTGATGGAGAACC	0.507																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(16-18)ctG>ctC		tripartite motif family-like 1							117.0	113.0	114.0					4																	189060730		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060730G>C	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.18G>C	4.37:g.189060730G>C							p.L6L	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	158	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	6					Q96BE5	Silent	SNP	ENST00000332517.3	37	c.18G>C	CCDS3851.1																																																																																				0.507	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		29	127	0	0	0	1	0	29	127				
TTC16	158248	broad.mit.edu	37	9	130488558	130488558	+	Missense_Mutation	SNP	C	C	T	rs574799983	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:130488558C>T	ENST00000373289.3	+	10	1380	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	TTC16_ENST00000393748.4_3'UTR|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_5'Flank|PTRH1_ENST00000419060.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	434										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CACGGCCATCCGGCACAACCC	0.607													C|||	7	0.00139776	0.0	0.0	5008	,	,		16067	0.0		0.0	False		,,,				2504	0.0072					ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(1300-1302)Cgg>Tgg		tetratricopeptide repeat domain 16							54.0	51.0	52.0					9																	130488558		2203	4299	6502	SO:0001583	missense	158248						binding	g.chr9:130488558C>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1300C>T	9.37:g.130488558C>T	ENSP00000362386:p.Arg434Trp					TTC16_ENST00000393748.4_3'UTR|TTC16_ENST00000489226.1_3'UTR	p.R434W	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			10	1380	+			434					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.1300C>T	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.412059	0.42817	.	.	ENSG00000167094	ENST00000373289;ENST00000373288;ENST00000316259	T	0.64803	-0.12	5.4	1.07	0.20283	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	1.020230	0.07828	N	0.960935	T	0.42743	0.1216	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.19706	0.038;0.038	B;B	0.12837	0.008;0.008	T	0.42464	-0.9450	10	0.72032	D	0.01	-3.3058	2.2429	0.04024	0.3798:0.3062:0.2177:0.0963	.	421;434	B4DZ42;Q8NEE8	.;TTC16_HUMAN	W	434;212;331	ENSP00000362386:R434W	ENSP00000319048:R331W	R	+	1	2	TTC16	129528379	0.561000	0.26578	0.980000	0.43619	0.708000	0.40852	0.279000	0.18771	0.207000	0.20607	0.456000	0.33151	CGG		0.607	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		31	41	0	0	0	1	0	31	41				
PPP1R3A	5506	broad.mit.edu	37	7	113522114	113522114	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:113522114C>T	ENST00000284601.3	-	3	1014	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	316					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AATTCTTTTTCATTATGTTCA	0.373																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(946-948)Gaa>Aaa		protein phosphatase 1, regulatory subunit 3A							248.0	199.0	216.0					7																	113522114		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113522114C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.946G>A	7.37:g.113522114C>T	ENSP00000284601:p.Glu316Lys						p.E316K	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			3	1014	-			316					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.946G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788890	0.31685	.	.	ENSG00000154415	ENST00000284601	T	0.18502	2.21	5.74	4.86	0.63082	.	0.329934	0.25994	N	0.026984	T	0.19287	0.0463	L	0.59436	1.845	0.29054	N	0.884317	B	0.25235	0.121	B	0.17098	0.017	T	0.08269	-1.0730	10	0.56958	D	0.05	-2.5797	13.07	0.59055	0.0:0.9258:0.0:0.0742	.	316	Q16821	PPR3A_HUMAN	K	316	ENSP00000284601:E316K	ENSP00000284601:E316K	E	-	1	0	PPP1R3A	113309350	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	2.624000	0.46444	1.431000	0.47355	0.561000	0.74099	GAA		0.373	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		28	100	0	0	0	1	0	28	100				
DLEC1	9940	broad.mit.edu	37	3	38158095	38158095	+	Silent	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:38158095C>G	ENST00000308059.6	+	28	4029	c.4008C>G	c.(4006-4008)ctC>ctG	p.L1336L	DLEC1_ENST00000346219.3_Silent_p.L1336L|DLEC1_ENST00000452631.2_Silent_p.L1339L					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCTGCCTCCTCTGGTCCCCAG	0.632																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(4006-4008)ctC>ctG		deleted in lung and esophageal cancer 1							67.0	69.0	68.0					3																	38158095		1984	4152	6136	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38158095C>G	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4008C>G	3.37:g.38158095C>G						DLEC1_ENST00000452631.2_Silent_p.L1339L|DLEC1_ENST00000346219.3_Silent_p.L1336L	p.L1336L			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	28	4029	+			1336						Silent	SNP	ENST00000308059.6	37	c.4008C>G	CCDS2672.2																																																																																				0.632	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		25	108	0	0	0	1	0	25	108				
COL6A3	1293	broad.mit.edu	37	2	238256999	238256999	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:238256999C>T	ENST00000295550.4	-	30	7411	c.6959G>A	c.(6958-6960)gGa>gAa	p.G2320E	COL6A3_ENST00000472056.1_Missense_Mutation_p.G1713E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2114E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2114E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2119E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2120E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2320	Collagen-like 5.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TACCTTTGGTCCTGGGTATCC	0.363																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(6958-6960)gGa>gAa		collagen, type VI, alpha 3							101.0	104.0	103.0					2																	238256999		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238256999C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6959G>A	2.37:g.238256999C>T	ENSP00000295550:p.Gly2320Glu					COL6A3_ENST00000353578.4_Missense_Mutation_p.G2114E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2119E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2120E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1713E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2114E	p.G2320E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	30	7411	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2320			Collagen-like 5.|Triple-helical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.6959G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528792	0.64860	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99353	-4.61;-5.77;-5.14;-5.77;-5.14;-5.77	4.95	4.95	0.65309	.	0.000000	0.49916	D	0.000137	D	0.99704	0.9887	H	0.98612	4.28	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	0.97083	0.9785	10	0.87932	D	0	.	18.1998	0.89834	0.0:1.0:0.0:0.0	.	1713;1713;2114;2320	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	E	2320;2119;2114;1713;2114;2120	ENSP00000295550:G2320E;ENSP00000315609:G2119E;ENSP00000315873:G2114E;ENSP00000418285:G1713E;ENSP00000386844:G2114E;ENSP00000295546:G2120E	ENSP00000295550:G2320E	G	-	2	0	COL6A3	237921738	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.144000	0.77357	2.286000	0.76751	0.655000	0.94253	GGA		0.363	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		36	169	0	0	0	1	0	36	169				
GFOD2	81577	broad.mit.edu	37	16	67709387	67709387	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:67709387C>G	ENST00000268797.7	-	3	1174	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	277					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		AGCAGCTCCTCTTGCGTGGCA	0.637																																						ENST00000268797.7																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(829-831)Gag>Cag		glucose-fructose oxidoreductase domain containing 2							44.0	42.0	43.0					16																	67709387		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709387C>G	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.829G>C	16.37:g.67709387C>G	ENSP00000268797:p.Glu277Gln					GFOD2_ENST00000602377.1_5'UTR	p.E277Q	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	1174	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	277					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.829G>C	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918460	0.52546	.	.	ENSG00000141098	ENST00000268797	T	0.48836	0.8	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	L	0.39397	1.21	0.80722	D	1	B	0.31989	0.35	B	0.39419	0.299	T	0.30090	-0.9990	10	0.23302	T	0.38	-37.6805	18.8749	0.92331	0.0:1.0:0.0:0.0	.	277	Q3B7J2	GFOD2_HUMAN	Q	277	ENSP00000268797:E277Q	ENSP00000268797:E277Q	E	-	1	0	GFOD2	66266888	1.000000	0.71417	0.962000	0.40283	0.776000	0.43924	7.612000	0.82975	2.625000	0.88918	0.557000	0.71058	GAG		0.637	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		23	53	0	0	0	1	0	23	53				
CIC	23152	broad.mit.edu	37	19	42793500	42793500	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr19:42793500G>A	ENST00000575354.2	+	8	1342	c.1302G>A	c.(1300-1302)atG>atA	p.M434I	CIC_ENST00000160740.3_Missense_Mutation_p.M434I|CIC_ENST00000572681.2_Missense_Mutation_p.M1343I	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	434					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)				GTGAGGACATGACGAGTGATG	0.632			"""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.(4027-4029)atG>atA		capicua transcriptional repressor							65.0	52.0	56.0					19																	42793500		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793500G>A	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.1302G>A	19.37:g.42793500G>A	ENSP00000458663:p.Met434Ile					CIC_ENST00000575354.2_Missense_Mutation_p.M434I|CIC_ENST00000160740.3_Missense_Mutation_p.M434I	p.M1343I			Q96RK0	CIC_HUMAN			9	4097	+		Prostate(69;0.00682)	434					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.4029G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559272	0.45590	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	T	0.44726	0.1307	N	0.24115	0.695	0.50039	D	0.999845	B	0.30281	0.275	B	0.26969	0.075	T	0.50988	-0.8762	8	0.87932	D	0	-15.6524	15.2624	0.73634	0.0:0.0:1.0:0.0	.	434	Q96RK0	CIC_HUMAN	I	434	.	ENSP00000160740:M434I	M	+	3	0	CIC	47485340	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.871000	0.87180	2.551000	0.86045	0.561000	0.74099	ATG		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			12	35	0	0	0	1	0	12	35				
STAM2	10254	broad.mit.edu	37	2	152992035	152992035	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:152992035C>T	ENST00000263904.4	-	8	1136	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	263					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		GCCTCAGTCTCTATGTTTAAA	0.318																																						ENST00000263904.4																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16						c.(787-789)Gag>Aag		signal transducing adaptor molecule (SH3 domain and ITAM motif) 2							108.0	111.0	110.0					2																	152992035		2203	4299	6502	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:152992035C>T	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.787G>A	2.37:g.152992035C>T	ENSP00000263904:p.Glu263Lys						p.E263K	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	8	1136	-			263					A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.787G>A	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145608	0.94603	.	.	ENSG00000115145	ENST00000263904	T	0.32515	1.45	5.55	5.55	0.83447	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.989	D;P	0.74348	0.983;0.829	T	0.57046	-0.7878	10	0.41790	T	0.15	-19.4587	19.498	0.95082	0.0:1.0:0.0:0.0	.	263;263	O75886-2;O75886	.;STAM2_HUMAN	K	263	ENSP00000263904:E263K	ENSP00000263904:E263K	E	-	1	0	STAM2	152700281	1.000000	0.71417	0.467000	0.27180	0.950000	0.60333	7.270000	0.78493	2.611000	0.88343	0.563000	0.77884	GAG		0.318	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		50	126	0	0	0	1	0	50	126				
APOL5	80831	broad.mit.edu	37	22	36124944	36124944	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr22:36124944G>A	ENST00000249044.2	+	4	1301	c.1301G>A	c.(1300-1302)tGa>tAa	p.*434*		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	0					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CACCGACAATGAGAAGAGGTA	0.602																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(1300-1302)tGa>tAa		apolipoprotein L, 5							59.0	53.0	55.0					22																	36124944		2203	4300	6503	SO:0001819	synonymous_variant	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36124944G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1301G>A	22.37:g.36124944G>A							p.*434*	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			4	1301	+			0					Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	c.1301G>A	CCDS13920.1																																																																																				0.602	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		9	31	0	0	0	1	0	9	31				
HRASLS	57110	broad.mit.edu	37	3	192973554	192973554	+	Missense_Mutation	SNP	T	T	G	rs137964301		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:192973554T>G	ENST00000602513.1	+	2	524	c.115T>G	c.(115-117)Tac>Gac	p.Y39D	HRASLS_ENST00000264735.2_Missense_Mutation_p.Y144D			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	39					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)			breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		GGGTGATGGTTACGTTATCAA	0.483																																						ENST00000264735.2																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10						c.(430-432)Tac>Gac		HRAS-like suppressor		T	ASP/TYR	0,4406		0,0,2203	207.0	187.0	194.0		115	5.5	1.0	3	dbSNP_134	194	3,8597	3.0+/-9.4	0,3,4297	no	missense	HRASLS	NM_020386.3	160	0,3,6500	GG,GT,TT		0.0349,0.0,0.0231	benign	39/169	192973554	3,13003	2203	4300	6503	SO:0001583	missense	57110							g.chr3:192973554T>G	AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.115T>G	3.37:g.192973554T>G	ENSP00000473258:p.Tyr39Asp					HRASLS_ENST00000602513.1_Missense_Mutation_p.Y39D	p.Y144D	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)	2	524	+	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		39					D2KX19	Missense_Mutation	SNP	ENST00000602513.1	37	c.430T>G		.	.	.	.	.	.	.	.	.	.	T	22.9	4.351711	0.82132	0.0	3.49E-4	ENSG00000127252	ENST00000264735	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.78629	0.4313	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.78897	-0.2023	9	0.41790	T	0.15	-0.3936	14.9602	0.71151	0.0:0.0:0.0:1.0	.	39	Q9HDD0	HRSL1_HUMAN	D	39	.	ENSP00000264735:Y39D	Y	+	1	0	HRASLS	194456248	1.000000	0.71417	0.991000	0.47740	0.835000	0.47333	7.270000	0.78493	2.313000	0.78055	0.455000	0.32223	TAC		0.483	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				53	184	0	0	0	1	0	53	184				
SETX	23064	broad.mit.edu	37	9	135204702	135204702	+	Silent	SNP	C	C	T	rs370328795		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:135204702C>T	ENST00000224140.5	-	10	2465	c.2283G>A	c.(2281-2283)tcG>tcA	p.S761S	SETX_ENST00000393220.1_Silent_p.S761S|SETX_ENST00000372169.2_Silent_p.S761S	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	761					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATCTTCATTCGATGTGGACA	0.368																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2281-2283)tcG>tcA		senataxin		T		1,4405		0,1,2202	118.0	114.0	116.0		2283	1.9	0.0	9		116	0,8600		0,0,4300	no	coding-synonymous	SETX	NM_015046.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		761/2678	135204702	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135204702C>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2283G>A	9.37:g.135204702C>T						SETX_ENST00000224140.5_Silent_p.S761S|SETX_ENST00000393220.1_Silent_p.S761S	p.S761S			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	2465	-		Myeloproliferative disorder(178;0.204)	761					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.2283G>A	CCDS6947.1																																																																																				0.368	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		5	238	0	0	0	1	0	5	238				
STARD13	90627	broad.mit.edu	37	13	33760037	33760037	+	Intron	SNP	C	C	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr13:33760037C>A	ENST00000336934.5	-	2	286				STARD13_ENST00000399365.3_Intron|STARD13_ENST00000487412.1_Intron|STARD13_ENST00000255486.4_Silent_p.V41V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ATGTGTGGTTCACTCTGCTTT	0.517																																						ENST00000255486.4																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(121-123)gtG>gtT		StAR-related lipid transfer (START) domain containing 13							123.0	98.0	107.0					13																	33760037		2203	4300	6503	SO:0001627	intron_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33760037C>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.170-18278G>T	13.37:g.33760037C>A						STARD13_ENST00000336934.5_Intron|STARD13_ENST00000487412.1_Intron|STARD13_ENST00000399365.3_Intron	p.V41V	NM_178007.2	NP_821075.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	1	179	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	910					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.123G>T	CCDS9348.1																																																																																				0.517	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		17	71	1	0	6.94344e-10	1	7.18015e-10	17	71				
ZNF513	130557	broad.mit.edu	37	2	27600565	27600565	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:27600565C>A	ENST00000323703.6	-	4	1671	c.1473G>T	c.(1471-1473)caG>caT	p.Q491H	ZNF513_ENST00000407879.1_Missense_Mutation_p.Q429H|ZNF513_ENST00000491924.1_5'Flank	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	491					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGCACCTTCTGGTGGCGCT	0.647																																						ENST00000323703.6																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(1471-1473)caG>caT		zinc finger protein 513							88.0	92.0	91.0					2																	27600565		2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600565C>A	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1473G>T	2.37:g.27600565C>A	ENSP00000318373:p.Gln491His					ZNF513_ENST00000407879.1_Missense_Mutation_p.Q429H	p.Q491H	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN			4	1671	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		491					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.1473G>T	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114730	0.37339	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.30714	1.52;3.15	4.5	2.66	0.31614	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000639	T	0.29256	0.0728	N	0.08118	0	0.32027	N	0.599964	D	0.69078	0.997	D	0.72075	0.976	T	0.32955	-0.9887	10	0.54805	T	0.06	-4.0369	7.2057	0.25905	0.1402:0.6966:0.0:0.1632	.	491	Q8N8E2	ZN513_HUMAN	H	491;429	ENSP00000318373:Q491H;ENSP00000384874:Q429H	ENSP00000318373:Q491H	Q	-	3	2	ZNF513	27454069	0.987000	0.35691	1.000000	0.80357	0.964000	0.63967	1.643000	0.37217	0.164000	0.19529	-0.797000	0.03246	CAG		0.647	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		32	143	1	0	6.02846e-25	1	6.60951e-25	32	143				
PCNT	5116	broad.mit.edu	37	21	47848407	47848407	+	Silent	SNP	G	G	A	rs372531708		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr21:47848407G>A	ENST00000359568.5	+	35	7700	c.7593G>A	c.(7591-7593)acG>acA	p.T2531T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2531					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGCGCATGACGCACCTGCAGA	0.672																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(7591-7593)acG>acA		pericentrin		G		0,4400		0,0,2200	30.0	26.0	27.0		7593	-8.8	0.0	21		27	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	PCNT	NM_006031.5		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		2531/3337	47848407	1,12995	2200	4298	6498	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47848407G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7593G>A	21.37:g.47848407G>A						PCNT_ENST00000480896.1_3'UTR	p.T2531T	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			35	7700	+	Breast(49;0.112)		2531					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.7593G>A	CCDS33592.1																																																																																				0.672	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		14	32	0	0	0	1	0	14	32				
GRIA2	2891	broad.mit.edu	37	4	158255200	158255200	+	Silent	SNP	C	C	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:158255200C>A	ENST00000264426.9	+	9	1473	c.1194C>A	c.(1192-1194)acC>acA	p.T398T	GRIA2_ENST00000296526.7_Silent_p.T398T|GRIA2_ENST00000393815.2_Silent_p.T351T|GRIA2_ENST00000449365.1_Silent_p.T351T|GRIA2_ENST00000507898.1_Silent_p.T351T	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	398					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGGTTGTTACCCTTACTGAGC	0.403																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1192-1194)acC>acA		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						178.0	165.0	169.0					4																	158255200		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158255200C>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1194C>A	4.37:g.158255200C>A						GRIA2_ENST00000393815.2_Silent_p.T351T|GRIA2_ENST00000449365.1_Silent_p.T351T|GRIA2_ENST00000264426.9_Silent_p.T398T|GRIA2_ENST00000507898.1_Silent_p.T351T	p.T398T	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	9	1519	+	all_hematologic(180;0.24)	Renal(120;0.0458)	398					A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.1194C>A	CCDS43274.1																																																																																				0.403	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			35	149	1	0	3.38236e-24	1	3.69353e-24	35	149				
PTH1R	5745	broad.mit.edu	37	3	46939346	46939346	+	Splice_Site	SNP	G	G	A	rs370990147		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:46939346G>A	ENST00000313049.5	+	4	518	c.315G>A	c.(313-315)ggG>ggA	p.G105G	PTH1R_ENST00000418619.1_Splice_Site_p.G105G|PTH1R_ENST00000449590.1_Splice_Site_p.G105G|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000430002.2_Splice_Site_p.G105G			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	105					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	TGGGCACAGGGCGCCCCTGTC	0.557																																						ENST00000449590.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						c.e6-1		parathyroid hormone 1 receptor		G	,	0,4406		0,0,2203	39.0	36.0	37.0		315,315	2.0	1.0	3		37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	PTH1R	NM_000316.2,NM_001184744.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	105/594,105/594	46939346	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	5745					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46939346G>A		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.314-1G>A	3.37:g.46939346G>A						PTH1R_ENST00000430002.2_Splice_Site_p.G105_splice|PTH1R_ENST00000418619.1_Splice_Site_p.G105_splice|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000313049.5_Splice_Site_p.G105_splice	p.G105_splice	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN			6	518	+			105					Q2M1U3	Splice_Site	SNP	ENST00000313049.5	37	c.313_splice	CCDS2747.1																																																																																				0.557	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316	Silent	9	23	0	0	0	1	0	9	23				
FLNB	2317	broad.mit.edu	37	3	58139360	58139360	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:58139360G>A	ENST00000295956.4	+	39	6791	c.6626G>A	c.(6625-6627)gGa>gAa	p.G2209E	FLNB_ENST00000493452.1_Missense_Mutation_p.G2016E|FLNB_ENST00000490882.1_Missense_Mutation_p.G2240E|FLNB_ENST00000429972.2_Missense_Mutation_p.G2198E|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000358537.3_Missense_Mutation_p.G2185E|FLNB_ENST00000348383.5_Missense_Mutation_p.G2168E|FLNB_ENST00000419752.2_Missense_Mutation_p.G2029E	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2209	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAGAAGCGGGAGTCCCAGGT	0.602																																						ENST00000295956.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(6625-6627)gGa>gAa		filamin B, beta							31.0	37.0	35.0					3																	58139360		2202	4300	6502	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58139360G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6626G>A	3.37:g.58139360G>A	ENSP00000295956:p.Gly2209Glu					FLNB_ENST00000429972.2_Missense_Mutation_p.G2198E|FLNB_ENST00000490882.1_Missense_Mutation_p.G2240E|FLNB_ENST00000358537.3_Missense_Mutation_p.G2185E|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.G2168E|FLNB_ENST00000419752.2_Missense_Mutation_p.G2029E|FLNB_ENST00000493452.1_Missense_Mutation_p.G2016E	p.G2209E	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	39	6791	+			2209			Interaction with FLNA 1.|Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.6626G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848272	0.91277	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	5.9	5.03	0.67393	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.153691	0.64402	N	0.000019	D	0.97377	0.9142	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.993;0.943;1.0;0.992;1.0;1.0	D	0.98243	1.0489	10	0.87932	D	0	.	14.911	0.70758	0.0681:0.0:0.9319:0.0	.	2185;2240;2016;2029;2198;2209	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	E	2209;2240;2185;2198;2168;2016;2029	ENSP00000295956:G2209E;ENSP00000420213:G2240E;ENSP00000351339:G2185E;ENSP00000415599:G2198E;ENSP00000232447:G2168E;ENSP00000418510:G2016E;ENSP00000414532:G2029E	ENSP00000295956:G2209E	G	+	2	0	FLNB	58114400	1.000000	0.71417	0.203000	0.23512	0.988000	0.76386	9.869000	0.99810	1.502000	0.48669	0.650000	0.86243	GGA		0.602	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		9	31	0	0	0	1	0	9	31				
DHX36	170506	broad.mit.edu	37	3	154022616	154022616	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:154022616C>G	ENST00000496811.1	-	8	1194	c.1114G>C	c.(1114-1116)Gaa>Caa	p.E372Q	DHX36_ENST00000308361.6_Missense_Mutation_p.E372Q|DHX36_ENST00000544526.1_Missense_Mutation_p.E372Q|DHX36_ENST00000329463.5_Missense_Mutation_p.E372Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	372	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GAAAACTTTTCTGCATTCAAT	0.279																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1114-1116)Gaa>Caa		DEAH (Asp-Glu-Ala-His) box polypeptide 36							30.0	32.0	31.0					3																	154022616		2203	4298	6501	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154022616C>G	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1114G>C	3.37:g.154022616C>G	ENSP00000417078:p.Glu372Gln					DHX36_ENST00000544526.1_Missense_Mutation_p.E372Q|DHX36_ENST00000308361.6_Missense_Mutation_p.E372Q|DHX36_ENST00000329463.5_Missense_Mutation_p.E372Q	p.E372Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		8	1194	-			372			Helicase ATP-binding.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.1114G>C	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433258	0.83776	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.9	5.9	0.94986	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.044570	0.85682	D	0.000000	T	0.53932	0.1827	L	0.58510	1.815	0.58432	D	0.999994	P;P;P	0.44429	0.73;0.835;0.771	P;P;P	0.54060	0.624;0.624;0.741	T	0.47169	-0.9138	10	0.54805	T	0.06	.	20.2822	0.98520	0.0:1.0:0.0:0.0	.	372;372;372	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	Q	372;372;372;372;286	ENSP00000417078:E372Q;ENSP00000309296:E372Q;ENSP00000444247:E372Q;ENSP00000330113:E372Q;ENSP00000419862:E286Q	ENSP00000309296:E372Q	E	-	1	0	DHX36	155505310	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.661000	0.68025	2.806000	0.96561	0.655000	0.94253	GAA		0.279	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		26	129	0	0	0	1	0	26	129				
FANCF	2188	broad.mit.edu	37	11	22646608	22646608	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:22646608G>T	ENST00000327470.3	-	1	779	c.749C>A	c.(748-750)gCc>gAc	p.A250D	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	250					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GCGACAAAAGGCAGCAAAGAC	0.577			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327470.3			yes	Rec		Fanconi anaemia F	11	11p15	2188	"""N, F"""	"""Fanconi anemia, complementation group F"""			L		"""AML, leukemia"""			0				kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						c.(748-750)gCc>gAc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group F							61.0	71.0	68.0					11																	22646608		2203	4300	6503	SO:0001583	missense	2188	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22646608G>T		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.749C>A	11.37:g.22646608G>T	ENSP00000330875:p.Ala250Asp		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757		p.A250D	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN			1	779	-			250					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.749C>A	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253765	0.22965	.	.	ENSG00000183161	ENST00000327470	T	0.32272	1.46	5.34	0.592	0.17471	.	0.763568	0.11919	U	0.516855	T	0.21509	0.0518	L	0.44542	1.39	0.23724	N	0.997015	P	0.38110	0.618	B	0.37387	0.248	T	0.15093	-1.0449	10	0.22706	T	0.39	-5.4929	5.2783	0.15661	0.2472:0.0:0.6168:0.136	.	250	Q9NPI8	FANCF_HUMAN	D	250	ENSP00000330875:A250D	ENSP00000330875:A250D	A	-	2	0	FANCF	22603184	0.031000	0.19500	0.140000	0.22221	0.356000	0.29392	0.462000	0.21956	0.252000	0.21531	-0.367000	0.07326	GCC		0.577	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		49	114	1	0	5.34276e-22	1	5.81104e-22	49	114				
KIF11	3832	broad.mit.edu	37	10	94405326	94405326	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:94405326G>C	ENST00000260731.3	+	18	2564	c.2474G>C	c.(2473-2475)aGa>aCa	p.R825T		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	825					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGAACACAAGAACAGTTTAT	0.353																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2473-2475)aGa>aCa		kinesin family member 11							72.0	76.0	75.0					10																	94405326		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94405326G>C	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2474G>C	10.37:g.94405326G>C	ENSP00000260731:p.Arg825Thr						p.R825T	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			18	2564	+			825					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.2474G>C	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	G	3.716	-0.058631	0.07317	.	.	ENSG00000138160	ENST00000260731	T	0.72051	-0.62	6.08	-0.391	0.12446	.	0.487707	0.23658	N	0.045854	T	0.39226	0.1070	N	0.08118	0	0.09310	N	0.999999	B	0.13145	0.007	B	0.13407	0.009	T	0.18335	-1.0340	10	0.10377	T	0.69	.	4.5563	0.12138	0.3973:0.0:0.4588:0.144	.	825	P52732	KIF11_HUMAN	T	825	ENSP00000260731:R825T	ENSP00000260731:R825T	R	+	2	0	KIF11	94395306	0.618000	0.27051	0.859000	0.33776	0.028000	0.11728	0.363000	0.20301	0.167000	0.19631	-0.229000	0.12294	AGA		0.353	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		22	64	0	0	0	1	0	22	64				
ABCB11	8647	broad.mit.edu	37	2	169791937	169791937	+	Splice_Site	SNP	T	T	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:169791937T>C	ENST00000263817.6	-	23	2939		c.e23-2			NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11						bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATTTGTAATCTGAAGATTGAA	0.453																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.e23-2		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						164.0	154.0	157.0					2																	169791937		1869	4108	5977	SO:0001630	splice_region_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169791937T>C	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2815-2A>G	2.37:g.169791937T>C								NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			23	2939	-								Q53TL2|Q9UNB2	Splice_Site	SNP	ENST00000263817.6	37		CCDS46444.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.844626	0.51164	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9087	0.79450	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCB11	169500183	1.000000	0.71417	0.996000	0.52242	0.316000	0.28119	7.644000	0.83416	2.157000	0.67596	0.533000	0.62120	.		0.453	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	Intron	56	198	0	0	0	1	0	56	198				
RNF217-AS1	7955	broad.mit.edu	37	6	125232130	125232130	+	RNA	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:125232130G>C	ENST00000439075.1	-	0	2615					NR_026876.1																						CCATTTTTTAGAATAAAAGAA	0.308																																						ENST00000439075.1																			0																				56.0	57.0	57.0					6																	125232130		876	1991	2867			7955							g.chr6:125232130G>C																													6.37:g.125232130G>C								NR_026876.1						0	2615	-									RNA	SNP	ENST00000439075.1	37																																																																																						0.308	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1			12	45	0	0	0	1	0	12	45				
TRAF3IP1	26146	broad.mit.edu	37	2	239307468	239307468	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:239307468G>T	ENST00000373327.4	+	17	2206	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.D596Y|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.D662Y	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	662	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AGACCAGCAAGACAAGATCTG	0.473																																						ENST00000373327.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(1984-1986)Gac>Tac		TNF receptor-associated factor 3 interacting protein 1							90.0	93.0	92.0					2																	239307468		2203	4300	6503	SO:0001583	missense	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239307468G>T	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1984G>T	2.37:g.239307468G>T	ENSP00000362424:p.Asp662Tyr					TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.D662Y|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.D596Y	p.D662Y	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	17	2206	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	662			DISC1-interaction domain.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.1984G>T	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403111	0.83230	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.17054	2.3;2.3;2.3	5.64	5.64	0.86602	.	0.088754	0.85682	D	0.000000	T	0.47985	0.1475	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.83275	0.996;0.995	T	0.49380	-0.8946	10	0.87932	D	0	-37.7957	19.7029	0.96062	0.0:0.0:1.0:0.0	.	596;662	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	Y	596;662;662;596	ENSP00000375851:D596Y;ENSP00000362424:D662Y;ENSP00000375852:D662Y	ENSP00000362424:D662Y	D	+	1	0	TRAF3IP1	238972207	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.146000	0.77373	2.670000	0.90874	0.650000	0.86243	GAC		0.473	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		57	64	1	0	2.82306e-37	1	3.12023e-37	57	64				
RNF213	57674	broad.mit.edu	37	17	78247078	78247078	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:78247078G>A	ENST00000582970.1	+	3	279	c.136G>A	c.(136-138)Gag>Aag	p.E46K	RNF213_ENST00000508628.2_Missense_Mutation_p.E46K|RNF213_ENST00000319921.4_Missense_Mutation_p.E46K|RNF213_ENST00000456466.1_Missense_Mutation_p.E46K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	46					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTCGGCCTCGGAGGGTGAAAT	0.547																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(136-138)Gag>Aag		ring finger protein 213							91.0	89.0	90.0					17																	78247078		2202	4300	6502	SO:0001583	missense	57674							g.chr17:78247078G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.136G>A	17.37:g.78247078G>A	ENSP00000464087:p.Glu46Lys					RNF213_ENST00000508628.2_Missense_Mutation_p.E46K|RNF213_ENST00000319921.4_Missense_Mutation_p.E46K|RNF213_ENST00000456466.1_Missense_Mutation_p.E46K	p.E46K	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		3	279	+	all_neural(118;0.0538)		46					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.136G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	9.745	1.165910	0.21538	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T	0.53423	0.62	3.49	-1.05	0.10036	.	.	.	.	.	T	0.33294	0.0858	L	0.47716	1.5	0.09310	N	1	B	0.23891	0.093	B	0.21708	0.036	T	0.36311	-0.9753	9	0.56958	D	0.05	.	0.8524	0.01175	0.222:0.1832:0.4069:0.1879	.	46	Q9HCF4-2	.	K	46	ENSP00000425956:E46K	ENSP00000324392:E46K	E	+	1	0	RNF213	75861673	0.003000	0.15002	0.000000	0.03702	0.049000	0.14656	0.390000	0.20768	-0.132000	0.11557	0.650000	0.86243	GAG		0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		21	80	0	0	0	1	0	21	80				
OBSCN	84033	broad.mit.edu	37	1	228403320	228403320	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:228403320G>A	ENST00000422127.1	+	6	1929	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	OBSCN_ENST00000570156.2_Missense_Mutation_p.E629K|C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E629K|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	629	Ig-like 6.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGGGTGGCGAGGTCACTTT	0.662																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(1885-1887)Gag>Aag		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							45.0	55.0	52.0					1																	228403320		2038	4184	6222	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228403320G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1885G>A	1.37:g.228403320G>A	ENSP00000409493:p.Glu629Lys					OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E629K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E629K	p.E629K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			6	1959	+		Prostate(94;0.0405)	629			Ig-like 6.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.1885G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765834	0.69878	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.35605	1.3;1.3	5.31	4.34	0.51931	Immunoglobulin-like fold (1);	0.069679	0.56097	D	0.000030	T	0.48370	0.1496	L	0.55103	1.725	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.70227	0.968;0.611	T	0.38950	-0.9637	10	0.05721	T	0.95	.	15.0471	0.71835	0.0:0.1427:0.8573:0.0	.	629;629	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	629	ENSP00000284548:E629K;ENSP00000409493:E629K	ENSP00000284548:E629K	E	+	1	0	OBSCN	226469943	1.000000	0.71417	0.951000	0.38953	0.827000	0.46813	5.706000	0.68362	2.505000	0.84491	0.655000	0.94253	GAG		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		9	11	0	0	0	1	0	9	11				
EDNRA	1909	broad.mit.edu	37	4	148463720	148463720	+	Missense_Mutation	SNP	C	C	G	rs199902852		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr4:148463720C>G	ENST00000324300.5	+	8	1749	c.1234C>G	c.(1234-1236)Caa>Gaa	p.Q412E	EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000511804.1_Missense_Mutation_p.Q187E|EDNRA_ENST00000358556.4_Missense_Mutation_p.Q303E|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Missense_Mutation_p.Q303E	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	412					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GAACCACGATCAAAACAACCA	0.517																																						ENST00000324300.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17						c.(1234-1236)Caa>Gaa		endothelin receptor type A	Bosentan(DB00559)						189.0	185.0	186.0					4																	148463720		2203	4300	6503	SO:0001583	missense	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148463720C>G	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.1234C>G	4.37:g.148463720C>G	ENSP00000315011:p.Gln412Glu					EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000506066.1_Missense_Mutation_p.Q303E|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000358556.4_Missense_Mutation_p.Q303E|EDNRA_ENST00000511804.1_Missense_Mutation_p.Q187E	p.Q412E	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	8	1749	+	all_hematologic(180;0.151)		412					B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	ENST00000324300.5	37	c.1234C>G	CCDS3769.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112053	0.37242	.	.	ENSG00000151617	ENST00000358556;ENST00000324300;ENST00000511804;ENST00000506066	T;T;T;T	0.73789	0.44;-0.78;0.82;0.44	5.27	4.43	0.53597	.	0.114707	0.64402	D	0.000011	T	0.60779	0.2295	L	0.38175	1.15	0.80722	D	1	P;B	0.38597	0.639;0.0	B;B	0.34301	0.179;0.0	T	0.57447	-0.7810	10	0.27082	T	0.32	-11.0068	10.589	0.45298	0.1327:0.7961:0.0:0.0712	.	303;412	P25101-4;P25101	.;EDNRA_HUMAN	E	303;412;187;303	ENSP00000351359:Q303E;ENSP00000315011:Q412E;ENSP00000425354:Q187E;ENSP00000425281:Q303E	ENSP00000315011:Q412E	Q	+	1	0	EDNRA	148683170	1.000000	0.71417	0.838000	0.33150	0.942000	0.58702	5.368000	0.66133	1.201000	0.43203	0.591000	0.81541	CAA		0.517	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			16	70	0	0	0	1	0	16	70				
HUWE1	10075	broad.mit.edu	37	X	53560365	53560365	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:53560365G>C	ENST00000342160.3	-	83	13487	c.13030C>G	c.(13030-13032)Cag>Gag	p.Q4344E	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q4344E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4344	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGATCCAGCTGATTAAAACTA	0.512																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(13030-13032)Cag>Gag		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							50.0	46.0	47.0					X																	53560365		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53560365G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.13030C>G	X.37:g.53560365G>C	ENSP00000340648:p.Gln4344Glu					HUWE1_ENST00000262854.6_Missense_Mutation_p.Q4344E	p.Q4344E			Q7Z6Z7	HUWE1_HUMAN			83	13487	-			4344			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.13030C>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.91|11.91	1.778986|1.778986	0.31502|0.31502	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.57436|.	0.4;0.4|.	5.3|5.3	5.3|5.3	0.74995|0.74995	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74772|.	0.3760|.	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D|.	0.54772|.	0.968;0.961|.	P;P|.	0.59948|.	0.866;0.789|.	T|.	0.74881|.	-0.3513|.	10|.	0.87932|.	D|.	0|.	.|.	16.9323|16.9323	0.86193|0.86193	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4344;4328|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	E|X	4344|3377;1166	ENSP00000340648:Q4344E;ENSP00000262854:Q4344E|.	ENSP00000262854:Q4344E|.	Q|S	-|-	1|2	0|0	HUWE1|HUWE1	53577090|53577090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	8.959000|8.959000	0.93110|0.93110	2.347000|2.347000	0.79759|0.79759	0.513000|0.513000	0.50165|0.50165	CAG|TCA		0.512	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		5	24	0	0	0	1	0	5	24				
TGM4	7047	broad.mit.edu	37	3	44945403	44945403	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:44945403G>C	ENST00000296125.4	+	9	1067	c.999G>C	c.(997-999)tgG>tgC	p.W333C	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	333					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CGGATGCCTGGATGAAGCGAC	0.607																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(997-999)tgG>tgC		transglutaminase 4	L-Glutamine(DB00130)						95.0	101.0	99.0					3																	44945403		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44945403G>C	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.999G>C	3.37:g.44945403G>C	ENSP00000296125:p.Trp333Cys						p.W333C	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	9	1067	+			333					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.999G>C	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293538	0.60086	.	.	ENSG00000163810	ENST00000296125	T	0.66638	-0.22	2.04	2.04	0.26737	Transglutaminase-like (2);	0.000000	0.43919	U	0.000516	D	0.84902	0.5575	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88470	0.3061	10	0.87932	D	0	.	12.6542	0.56778	0.0:0.0:1.0:0.0	.	333	P49221	TGM4_HUMAN	C	333	ENSP00000296125:W333C	ENSP00000296125:W333C	W	+	3	0	TGM4	44920407	1.000000	0.71417	0.746000	0.31095	0.117000	0.20001	7.765000	0.85310	1.038000	0.40049	0.462000	0.41574	TGG		0.607	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		37	186	0	0	0	1	0	37	186				
COL20A1	57642	broad.mit.edu	37	20	61929272	61929272	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr20:61929272C>T	ENST00000358894.6	+	3	193	c.93C>T	c.(91-93)ctC>ctT	p.L31L	COL20A1_ENST00000422202.1_Silent_p.L31L|COL20A1_ENST00000435874.1_Silent_p.L31L|COL20A1_ENST00000326996.6_Silent_p.L31L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	31	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CAAGCGGTCTCCTGAGGCTGG	0.617																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(91-93)ctC>ctT		collagen, type XX, alpha 1							41.0	50.0	47.0					20																	61929272		2033	4184	6217	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61929272C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.93C>T	20.37:g.61929272C>T						COL20A1_ENST00000326996.6_Silent_p.L31L|COL20A1_ENST00000358894.6_Silent_p.L31L|COL20A1_ENST00000435874.1_Silent_p.L31L	p.L31L			Q9P218	COKA1_HUMAN			2	161	+	all_cancers(38;1.39e-10)		31			Fibronectin type-III 1.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.93C>T	CCDS46628.1																																																																																				0.617	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		6	27	0	0	0	1	0	6	27				
RPL11	6135	broad.mit.edu	37	1	24019119	24019119	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:24019119G>A	ENST00000374550.3	+	2	72	c.27G>A	c.(25-27)gaG>gaA	p.E9E	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GTGAAAAGGAGAACCCCATGC	0.522																																						ENST00000374550.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(25-27)gaG>gaA		ribosomal protein L11							95.0	96.0	96.0					1																	24019119		2203	4300	6503	SO:0001819	synonymous_variant	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24019119G>A	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.27G>A	1.37:g.24019119G>A						RPL11_ENST00000482370.1_3'UTR	p.E9E	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	2	72	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	9					P25121|P39026|Q8TDH2|Q9Y674	Silent	SNP	ENST00000374550.3	37	c.27G>A	CCDS238.1																																																																																				0.522	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		28	111	0	0	0	1	0	28	111				
CHSY3	337876	broad.mit.edu	37	5	129520070	129520070	+	Missense_Mutation	SNP	G	G	A	rs140992502		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr5:129520070G>A	ENST00000305031.4	+	3	1593	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	412					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATGCTCAGCCGCAAAATTTCT	0.478																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1234-1236)cGc>cAc		chondroitin sulfate synthase 3		G	HIS/ARG	0,4406		0,0,2203	98.0	89.0	92.0		1235	4.5	1.0	5	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHSY3	NM_175856.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	412/883	129520070	2,13004	2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520070G>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1235G>A	5.37:g.129520070G>A	ENSP00000302629:p.Arg412His					CHSY3_ENST00000507545.1_3'UTR	p.R412H	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1593	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	412					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1235G>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647807	0.87958	0.0	2.33E-4	ENSG00000198108	ENST00000305031	T	0.15834	2.39	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000016	T	0.27241	0.0668	M	0.65975	2.015	0.80722	D	1	P	0.48998	0.918	P	0.45998	0.5	T	0.03017	-1.1082	9	.	.	.	-2.8659	18.5119	0.90920	0.0:0.0:1.0:0.0	.	412	Q70JA7	CHSS3_HUMAN	H	412	ENSP00000302629:R412H	.	R	+	2	0	CHSY3	129547969	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.779000	0.95612	0.650000	0.86243	CGC		0.478	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		21	78	0	0	0	1	0	21	78				
CLIP2	7461	broad.mit.edu	37	7	73752876	73752876	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:73752876G>T	ENST00000395060.1	+	2	220	c.220G>T	c.(220-222)Gac>Tac	p.D74Y	CLIP2_ENST00000223398.6_Missense_Mutation_p.D74Y|CLIP2_ENST00000361545.5_Missense_Mutation_p.D74Y			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	74						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGTGGGGGATGACTTCCTGGG	0.677																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(220-222)Gac>Tac		CAP-GLY domain containing linker protein 2							30.0	26.0	27.0					7																	73752876		2196	4294	6490	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73752876G>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.220G>T	7.37:g.73752876G>T	ENSP00000378500:p.Asp74Tyr					CLIP2_ENST00000361545.5_Missense_Mutation_p.D74Y|CLIP2_ENST00000395060.1_Missense_Mutation_p.D74Y	p.D74Y	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			3	547	+			74					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.220G>T	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316689	0.81469	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.74842	-0.88;-0.88;-0.88	4.75	4.75	0.60458	Cytoskeleton-associated protein, Gly-rich domain (1);	0.120665	0.56097	D	0.000038	T	0.79329	0.4427	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.95	T	0.81553	-0.0880	10	0.62326	D	0.03	-32.4013	16.4735	0.84125	0.0:0.0:1.0:0.0	.	74;74	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	Y	74	ENSP00000223398:D74Y;ENSP00000355151:D74Y;ENSP00000378500:D74Y	ENSP00000223398:D74Y	D	+	1	0	CLIP2	73390812	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.042000	0.93793	2.469000	0.83416	0.462000	0.41574	GAC		0.677	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		4	14	1	0	0.00909568	1	0.00916281	4	14				
PRSS23	11098	broad.mit.edu	37	11	86519137	86519137	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:86519137C>G	ENST00000280258.5	+	2	877	c.452C>G	c.(451-453)tCa>tGa	p.S151*	PRSS23_ENST00000441050.1_Nonsense_Mutation_p.S119*|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	151						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACCCTTTCTCAACATCAGTG	0.512																																						ENST00000280258.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(451-453)tCa>tGa		protease, serine, 23							77.0	76.0	76.0					11																	86519137		2201	4299	6500	SO:0001587	stop_gained	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519137C>G	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.452C>G	11.37:g.86519137C>G	ENSP00000280258:p.Ser151*					PRSS23_ENST00000441050.1_Nonsense_Mutation_p.S119*|PRSS23_ENST00000533902.2_Intron	p.S151*	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN			2	877	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	151					B2RDJ1|B4E2J3|Q6IBI0	Nonsense_Mutation	SNP	ENST00000280258.5	37	c.452C>G	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712074	0.89112	.	.	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.6998	20.0545	0.97645	0.0:1.0:0.0:0.0	.	.	.	.	X	151;151;119	.	.	S	+	2	0	PRSS23	86196785	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.395000	0.79876	2.748000	0.94277	0.655000	0.94253	TCA		0.512	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		25	89	0	0	0	1	0	25	89				
TMEM255A	55026	broad.mit.edu	37	X	119427904	119427904	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:119427904G>A	ENST00000309720.5	-	3	327	c.204C>T	c.(202-204)ctC>ctT	p.L68L	TMEM255A_ENST00000371369.4_Silent_p.L68L|TMEM255A_ENST00000440464.1_Silent_p.L68L	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	68						integral component of membrane (GO:0016021)											ATCCAAAGCCGAGCTGCAAAG	0.403																																						ENST00000371369.4																			0											c.(202-204)ctC>ctT		transmembrane protein 255A							137.0	112.0	121.0					X																	119427904		2203	4300	6503	SO:0001819	synonymous_variant	55026							g.chrX:119427904G>A	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.204C>T	X.37:g.119427904G>A						TMEM255A_ENST00000309720.5_Silent_p.L68L|TMEM255A_ENST00000440464.1_Silent_p.L68L	p.L68L	NM_001104544.1	NP_001098014.1					3	430	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.204C>T	CCDS14597.1																																																																																				0.403	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		28	92	0	0	0	1	0	28	92				
CTSD	1509	broad.mit.edu	37	11	1780271	1780271	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:1780271C>G	ENST00000236671.2	-	4	531	c.399G>C	c.(397-399)aaG>aaC	p.K133N	AC068580.6_ENST00000449248.1_RNA|RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.R4T	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	133					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGGTACCATTCTTCACGTAGG	0.642																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(397-399)aaG>aaC		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						321.0	268.0	286.0					11																	1780271		2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1780271C>G	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.399G>C	11.37:g.1780271C>G	ENSP00000236671:p.Lys133Asn					RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.R4T	p.K133N	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	4	531	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	133					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.399G>C	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.649|9.649	1.141079|1.141079	0.21205|0.21205	.|.	.|.	ENSG00000117984|ENSG00000250644	ENST00000236671;ENST00000438213;ENST00000367196|ENST00000427721	T;T;T|.	0.58797|.	0.31;0.31;0.31|.	3.95|3.95	3.04|3.04	0.35103|0.35103	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);|.	0.111229|.	0.64402|.	N|.	0.000015|.	T|T	0.57140|0.57140	0.2033|0.2033	L|L	0.58302|0.58302	1.8|1.8	0.52099|0.52099	D|D	0.999949|0.999949	B|.	0.24675|.	0.109|.	B|.	0.36922|.	0.236|.	T|T	0.52343|0.52343	-0.8588|-0.8588	10|5	0.37606|.	T|.	0.19|.	.|.	5.5262|5.5262	0.16959|0.16959	0.0:0.6541:0.1641:0.1818|0.0:0.6541:0.1641:0.1818	.|.	133|.	P07339|.	CATD_HUMAN|.	N|T	133;118;98|4	ENSP00000236671:K133N;ENSP00000415036:K118N;ENSP00000356164:K98N|.	ENSP00000236671:K133N|.	K|R	-|-	3|2	2|0	CTSD|RP11-295K3.1	1736847|1736847	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.144000|0.144000	0.21451|0.21451	1.671000|1.671000	0.37513|0.37513	0.787000|0.787000	0.33731|0.33731	0.431000|0.431000	0.28591|0.28591	AAG|AGA		0.642	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		95	168	0	0	0	1	0	95	168				
DIXDC1	85458	broad.mit.edu	37	11	111864234	111864234	+	Silent	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr11:111864234G>A	ENST00000440460.2	+	14	1581	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Silent_p.Q217Q	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	429					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AGCTGGGGCAGAAGGATCGCC	0.483																																						ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(1282-1284)caG>caA		DIX domain containing 1							78.0	77.0	77.0					11																	111864234		1928	4136	6064	SO:0001819	synonymous_variant	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111864234G>A	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1284G>A	11.37:g.111864234G>A						DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Silent_p.Q217Q	p.Q428Q	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	14	1581	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	429					A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Silent	SNP	ENST00000440460.2	37	c.1284G>A																																																																																					0.483	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		15	59	0	0	0	1	0	15	59				
ABCD1	215	broad.mit.edu	37	X	152991459	152991459	+	Silent	SNP	C	C	T			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chrX:152991459C>T	ENST00000218104.3	+	1	1137	c.738C>T	c.(736-738)atC>atT	p.I246I	BCAP31_ENST00000458587.2_5'Flank|ABCD1_ENST00000370129.4_Silent_p.I61I|BCAP31_ENST00000345046.6_5'Flank|BCAP31_ENST00000441714.1_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	246	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGGCCATCGCCGGCCTCG	0.706																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(736-738)atC>atT		ATP-binding cassette, sub-family D (ALD), member 1							24.0	24.0	24.0					X																	152991459		2197	4294	6491	SO:0001819	synonymous_variant	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:152991459C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.738C>T	X.37:g.152991459C>T						ABCD1_ENST00000370129.4_Silent_p.I61I	p.I246I	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			1	1137	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		246			ABC transmembrane type-1.		Q6GTZ2	Silent	SNP	ENST00000218104.3	37	c.738C>T	CCDS14728.1																																																																																				0.706	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		10	28	0	0	0	1	0	10	28				
OR2T1	26696	broad.mit.edu	37	1	248570073	248570073	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr1:248570073C>A	ENST00000366474.1	+	1	778	c.778C>A	c.(778-780)Cct>Act	p.P260T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTGATTCCTTTCTCTGT	0.507																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(778-780)Cct>Act		olfactory receptor, family 2, subfamily T, member 1							282.0	236.0	251.0					1																	248570073		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570073C>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.778C>A	1.37:g.248570073C>A	ENSP00000355430:p.Pro260Thr						p.P260T	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	778	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		260					Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.778C>A	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	c	15.95	2.985191	0.53934	.	.	ENSG00000175143	ENST00000366474	T	0.56103	0.48	4.75	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36555	U	0.002536	T	0.62146	0.2404	L	0.41573	1.285	0.38690	D	0.952736	D	0.89917	1.0	D	0.97110	1.0	T	0.67284	-0.5709	10	0.87932	D	0	.	12.3429	0.55103	0.0:0.9139:0.0:0.0861	.	260	O43869	OR2T1_HUMAN	T	260	ENSP00000355430:P260T	ENSP00000355430:P260T	P	+	1	0	OR2T1	246636696	0.000000	0.05858	0.977000	0.42913	0.921000	0.55340	-0.651000	0.05372	2.462000	0.83206	0.650000	0.86243	CCT		0.507	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			24	111	1	0	5.35356e-11	1	5.57833e-11	24	111				
XIRP2	129446	broad.mit.edu	37	2	167760256	167760256	+	Missense_Mutation	SNP	G	G	T	rs140208720		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr2:167760256G>T	ENST00000409728.1	+	2	353	c.264G>T	c.(262-264)agG>agT	p.R88S	XIRP2_ENST00000409756.2_Missense_Mutation_p.R88S|XIRP2_ENST00000409043.1_Missense_Mutation_p.R88S|XIRP2_ENST00000409195.1_Missense_Mutation_p.R88S|XIRP2_ENST00000295237.9_Missense_Mutation_p.R88S|XIRP2_ENST00000420519.1_Missense_Mutation_p.R88S	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R88R(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAACACCAGGGAATATGGTC	0.512																																						ENST00000409195.1																			2	Substitution - coding silent(2)	p.R88R(2)	skin(2)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(262-264)agG>agT		xin actin-binding repeat containing 2							97.0	98.0	98.0					2																	167760256		1997	4151	6148	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760256G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.264G>T	2.37:g.167760256G>T	ENSP00000386619:p.Arg88Ser					XIRP2_ENST00000409728.1_Missense_Mutation_p.R88S|XIRP2_ENST00000409043.1_Missense_Mutation_p.R88S|XIRP2_ENST00000295237.9_Missense_Mutation_p.R88S|XIRP2_ENST00000420519.1_Missense_Mutation_p.R88S|XIRP2_ENST00000409756.2_Missense_Mutation_p.R88S	p.R88S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			2	353	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.264G>T	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612359	0.28712	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.78364	-1.17;-1.17;4.17;-1.17;-1.17;4.17	5.12	-1.48	0.08745	.	.	.	.	.	T	0.57917	0.2086	.	.	.	0.09310	N	1	B;B	0.32829	0.386;0.386	B;B	0.34242	0.178;0.178	T	0.45687	-0.9244	8	0.20046	T	0.44	-0.3313	4.3151	0.10990	0.4583:0.0:0.3855:0.1562	.	88;88	A4UGR9-4;A4UGR9-6	.;.	S	88	ENSP00000386454:R88S;ENSP00000386619:R88S;ENSP00000386840:R88S;ENSP00000386724:R88S;ENSP00000415541:R88S;ENSP00000295237:R88S	ENSP00000295237:R88S	R	+	3	2	XIRP2	167468502	0.041000	0.20044	0.001000	0.08648	0.039000	0.13416	0.145000	0.16157	-0.291000	0.09012	-0.136000	0.14681	AGG		0.512	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		20	57	1	0	3.51602e-12	1	3.69182e-12	20	57				
ZKSCAN5	23660	broad.mit.edu	37	7	99129384	99129384	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr7:99129384G>A	ENST00000394170.2	+	7	2283	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E678K|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E678K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	678					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TAGCCTAATTGAACATCAGGT	0.443																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(2032-2034)Gaa>Aaa		zinc finger with KRAB and SCAN domains 5							131.0	123.0	125.0					7																	99129384		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99129384G>A	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.2032G>A	7.37:g.99129384G>A	ENSP00000377725:p.Glu678Lys					ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E678K|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E678K	p.E678K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			7	2283	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		678					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.2032G>A	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	7.762	0.705697	0.15172	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.14391	2.51;2.51;2.51	5.11	5.11	0.69529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000028	T	0.06280	0.0162	N	0.12182	0.205	0.36617	D	0.87551	B;B	0.30824	0.296;0.296	B;B	0.28991	0.097;0.097	T	0.21008	-1.0258	10	0.06236	T	0.91	.	9.7494	0.40466	0.0914:0.0:0.9086:0.0	.	678;678	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	K	678	ENSP00000322872:E678K;ENSP00000392104:E678K;ENSP00000377725:E678K	ENSP00000322872:E678K	E	+	1	0	ZKSCAN5	98967320	0.000000	0.05858	0.998000	0.56505	0.797000	0.45037	-0.151000	0.10175	2.832000	0.97577	0.655000	0.94253	GAA		0.443	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		34	125	0	0	0	1	0	34	125				
GP9	2815	broad.mit.edu	37	3	128781086	128781086	+	Frame_Shift_Del	DEL	G	G	-			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr3:128781086delG	ENST00000307395.4	+	3	726	c.504delG	c.(502-504)ctgfs	p.L169fs		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	169					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	TGGCTGGCCTGCTGTGTGCCA	0.721																																						ENST00000307395.4																			0				NS(1)|central_nervous_system(1)|lung(4)	6						c.(502-504)ctfs		glycoprotein IX (platelet)	Quinine(DB00468)						3.0	3.0	3.0					3																	128781086		1473	2998	4471	SO:0001589	frameshift_variant	2815				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding	g.chr3:128781086delG		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"""CD molecules"""	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.504delG	3.37:g.128781086delG	ENSP00000303942:p.Leu169fs						p.L169fs	NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN			3	726	+			169					Q14445|Q8N1D1|Q92525	Frame_Shift_Del	DEL	ENST00000307395.4	37	c.504delG	CCDS3055.1																																																																																				0.721	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1			2	4						2	4	---	---	---	---
KDM1B	221656	broad.mit.edu	37	6	18163094	18163094	+	Frame_Shift_Del	DEL	T	T	-			TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr6:18163094delT	ENST00000297792.5	+	5	421	c.244delT	c.(244-246)tggfs	p.W82fs	KDM1B_ENST00000388870.2_Frame_Shift_Del_p.W82fs|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Frame_Shift_Del_p.W82fs			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	82					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CACCTCCCGATGGTATCATCT	0.378																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(244-246)ggfs		lysine (K)-specific demethylase 1B							126.0	120.0	122.0					6																	18163094		2203	4300	6503	SO:0001589	frameshift_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18163094delT	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.244delT	6.37:g.18163094delT	ENSP00000297792:p.Trp82fs					KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Frame_Shift_Del_p.W82fs|KDM1B_ENST00000297792.5_Frame_Shift_Del_p.W82fs	p.W82fs			Q8NB78	KDM1B_HUMAN			5	485	+			82					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Frame_Shift_Del	DEL	ENST00000297792.5	37	c.244delT	CCDS34343.1																																																																																				0.378	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		27	107						27	107	---	---	---	---
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-	rs200487787	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcgfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													g|G|-|deletion	1256	0.250799	0.2352	0.2061	5008	,	,		15575	0.3968		0.174	False		,,,				2504	0.2321					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1597-1599)gcfs		contactin associated protein-like 3B																																				SO:0001589	frameshift_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43844265delG	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1599delG	9.37:g.43844265delG	ENSP00000366787:p.Ala533fs						p.A533fs	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			10	1992	+			533			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Frame_Shift_Del	DEL	ENST00000377564.3	37	c.1599delG	CCDS55312.1																																																																																				0.542	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			3	6						3	6	---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95159223	95159233	+	Frame_Shift_Del	DEL	CCTTTACTGTC	CCTTTACTGTC	-	rs370798948		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr10:95159223_95159233delCCTTTACTGTC	ENST00000359263.4	-	13	1136_1146	c.1137_1147delGACAGTAAAGG	c.(1135-1149)cagacagtaaaggaafs	p.TVKE380fs	MYOF_ENST00000371501.4_Frame_Shift_Del_p.TVKE380fs|MYOF_ENST00000371489.1_Frame_Shift_Del_p.TVKE380fs|MYOF_ENST00000371502.4_Frame_Shift_Del_p.TVKE380fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.TVKE380fs	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	380	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAAATATTTCCTTTACTGTCTGTGAGAAGG	0.341																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1135-1149)caaafs		myoferlin																																				SO:0001589	frameshift_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95159223_95159233delCCTTTACTGTC	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1137_1147delGACAGTAAAGG	10.37:g.95159223_95159233delCCTTTACTGTC	ENSP00000352208:p.Thr380fs					MYOF_ENST00000358334.5_Frame_Shift_Del_p.QTVKE379fs|MYOF_ENST00000359263.4_Frame_Shift_Del_p.QTVKE379fs|MYOF_ENST00000371489.1_Frame_Shift_Del_p.QTVKE379fs|MYOF_ENST00000371502.4_Frame_Shift_Del_p.QTVKE379fs	p.QTVKE379fs			Q9NZM1	MYOF_HUMAN			13	1259_1269	-			379			C2 3.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Frame_Shift_Del	DEL	ENST00000359263.4	37	c.1137_1147delGACAGTAAAGG	CCDS41551.1																																																																																				0.341	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		9	61						9	61	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372914	74372915	+	RNA	INS	-	-	T	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr16:74372914_74372915insT	ENST00000429810.2	-	0	1404																											AACGTAGtttgttttttttttt	0.436																																						ENST00000429810.2																			0																																																			0							g.chr16:74372914_74372915insT																													16.37:g.74372925_74372925dupT														0	1404	-									RNA	INS	ENST00000429810.2	37																																																																																						0.436	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			2	4						2	4	---	---	---	---
PEX12	5193	broad.mit.edu	37	17	33900514	33900515	+	IGR	INS	-	-	A	rs567035931|rs200421105	byFrequency	TCGA-T2-A6WX-01A-12D-A34J-08	TCGA-T2-A6WX-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7098cee0-5b96-4279-83ab-a469bdf77237	c47cb327-1204-4ba6-9525-36f5f5113599	g.chr17:33900514_33900515insA	ENST00000225873.4	-	0	2675				SNORD7_ENST00000384567.1_RNA|RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12						peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		gaccctgtcttaaaaaaaaaaa	0.411													|||unknown(HR)	294	0.0587061	0.0363	0.013	5008	,	,		15577	0.1567		0.0169	False		,,,				2504	0.0634					ENST00000592381.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:33900514_33900515insA	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951		17.37:g.33900525_33900525dupA														0	382	+								B2R6M2	RNA	INS	ENST00000225873.4	37		CCDS11296.1																																																																																				0.411	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		2	4						2	4	---	---	---	---
