#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
MAP2	4133	broad.mit.edu	37	2	210588337	210588337	+	Intron	SNP	A	A	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:210588337A>T	ENST00000360351.4	+	13	5579				MAP2_ENST00000361559.4_Intron|RNA5SP118_ENST00000410385.1_RNA|MAP2_ENST00000199940.6_Nonsense_Mutation_p.K399*|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2						axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TTTAAACAAGAAGATCGATTT	0.403																																					Pancreas(27;423 979 28787 29963)	ENST00000199940.6																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(1195-1197)Aag>Tag		microtubule-associated protein 2	Estramustine(DB01196)						93.0	91.0	92.0					2																	210588337		2203	4300	6503	SO:0001627	intron_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210588337A>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5074-2096A>T	2.37:g.210588337A>T						MAP2_ENST00000392194.1_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000360351.4_Intron|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000361559.4_Intron	p.K399*	NM_001039538.1	NP_001034627.1	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	1635	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1674					Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	ENST00000360351.4	37	c.1195A>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	41	8.850380	0.98978	.	.	ENSG00000078018	ENST00000199940	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7243	0.77743	1.0:0.0:0.0:0.0	.	.	.	.	X	399	.	ENSP00000199940:K399X	K	+	1	0	MAP2	210296582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.306000	0.78905	2.109000	0.64355	0.533000	0.62120	AAG		0.403	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		7	51	0	0	0	1	0	7	51				
ABCA1	19	broad.mit.edu	37	9	107576453	107576453	+	Missense_Mutation	SNP	G	G	A	rs367658137		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:107576453G>A	ENST00000374736.3	-	27	4241	c.3847C>T	c.(3847-3849)Cgc>Tgc	p.R1283C		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1283					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GTGAACGGGCGAAGACAGCTC	0.463																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(3847-3849)Cgc>Tgc		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	G	CYS/ARG	0,4406		0,0,2203	109.0	90.0	97.0		3847	5.4	1.0	9		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCA1	NM_005502.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1283/2262	107576453	1,13005	2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107576453G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3847C>T	9.37:g.107576453G>A	ENSP00000363868:p.Arg1283Cys						p.R1283C	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	27	4241	-			1283					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.3847C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109296	0.37242	0.0	1.16E-4	ENSG00000165029	ENST00000374736	D	0.94376	-3.41	5.39	5.39	0.77823	.	0.224065	0.43919	D	0.000507	D	0.88636	0.6490	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	D	0.84195	0.0447	10	0.38643	T	0.18	.	14.0428	0.64687	0.0:0.0:0.8491:0.1509	.	1283	O95477	ABCA1_HUMAN	C	1283	ENSP00000363868:R1283C	ENSP00000363868:R1283C	R	-	1	0	ABCA1	106616274	1.000000	0.71417	0.966000	0.40874	0.299000	0.27559	6.845000	0.75394	2.548000	0.85928	0.455000	0.32223	CGC		0.463	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		16	79	0	0	0	1	0	16	79				
SVEP1	79987	broad.mit.edu	37	9	113208209	113208209	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:113208209C>T	ENST00000401783.2	-	26	4707	c.4371G>A	c.(4369-4371)atG>atA	p.M1457I	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.M1434I|SVEP1_ENST00000302728.8_Missense_Mutation_p.M1457I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1457	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGAGGATTTCATCCAGAAGG	0.453																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(4369-4371)atG>atA		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							150.0	145.0	147.0					9																	113208209		1974	4164	6138	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113208209C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4371G>A	9.37:g.113208209C>T	ENSP00000384917:p.Met1457Ile					SVEP1_ENST00000374469.1_Missense_Mutation_p.M1434I|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.M1457I	p.M1457I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			26	4707	-			1457			Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4371G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526320	0.64860	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.70164	0.48;0.48;-0.46	5.4	5.4	0.78164	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	L	0.35487	1.065	0.47341	D	0.999398	D;D	0.69078	0.969;0.997	D;D	0.79108	0.968;0.992	T	0.68330	-0.5437	10	0.22109	T	0.4	.	19.5299	0.95225	0.0:1.0:0.0:0.0	.	1457;1457	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	I	1457;1434;1457	ENSP00000384917:M1457I;ENSP00000363593:M1434I;ENSP00000304118:M1457I	ENSP00000304118:M1457I	M	-	3	0	SVEP1	112248030	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	7.444000	0.80532	2.692000	0.91855	0.655000	0.94253	ATG		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	102	0	0	0	1	0	14	102				
ITGAM	3684	broad.mit.edu	37	16	31282333	31282333	+	Silent	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:31282333C>T	ENST00000287497.8	+	6	561	c.486C>T	c.(484-486)atC>atT	p.I162I	ITGAM_ENST00000544665.3_Silent_p.I162I			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	162	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GTAGCATCATCCCACATGACT	0.468																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(484-486)atC>atT		integrin, alpha M (complement component 3 receptor 3 subunit)							212.0	197.0	202.0					16																	31282333		1947	4154	6101	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31282333C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.486C>T	16.37:g.31282333C>T						ITGAM_ENST00000287497.8_Silent_p.I162I	p.I162I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			6	557	+			162			VWFA.		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.486C>T	CCDS45470.1																																																																																				0.468	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		30	189	0	0	0	1	0	30	189				
MAGEC1	9947	broad.mit.edu	37	X	140994837	140994837	+	Silent	SNP	T	T	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:140994837T>A	ENST00000285879.4	+	4	1933	c.1647T>A	c.(1645-1647)ccT>ccA	p.P549P	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	549										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)					ACTACTTTCCTCAGAGCCCTC	0.552										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.(1645-1647)ccT>ccA		melanoma antigen family C, 1							187.0	199.0	195.0					X																	140994837		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994837T>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.1647T>A	X.37:g.140994837T>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P549P	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1933	+	Acute lymphoblastic leukemia(192;6.56e-05)		549					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1647T>A	CCDS35417.1																																																																																				0.552	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		45	346	0	0	0	1	0	45	346				
NELFE	7936	broad.mit.edu	37	6	31922132	31922132	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr6:31922132C>T	ENST00000375429.3	-	8	1056	c.830G>A	c.(829-831)cGt>cAt	p.R277H	NELFE_ENST00000444811.2_Missense_Mutation_p.R247H|NELFE_ENST00000375425.5_Missense_Mutation_p.R284H|MIR1236_ENST00000408340.1_RNA	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	277	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GAAGGCCCCACGGAGAAGGGT	0.512																																						ENST00000375429.3																			0											c.(829-831)cGt>cAt		negative elongation factor complex member E							102.0	94.0	97.0					6																	31922132		2203	4300	6503	SO:0001583	missense	7936							g.chr6:31922132C>T	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.830G>A	6.37:g.31922132C>T	ENSP00000364578:p.Arg277His					NELFE_ENST00000375425.5_Missense_Mutation_p.R284H|NELFE_ENST00000444811.2_Missense_Mutation_p.R247H	p.R277H	NM_002904.5	NP_002895.3					8	1056	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.830G>A	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963513	0.74016	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913	T;T;T;T;T	0.49432	2.15;2.15;2.15;2.15;0.78	5.61	5.61	0.85477	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.33147	0.0853	L	0.48260	1.515	0.58432	D	0.999996	P;P;P	0.39903	0.694;0.665;0.665	B;B;B	0.36885	0.15;0.235;0.235	T	0.30822	-0.9965	10	0.56958	D	0.05	-7.1174	18.4037	0.90526	0.0:1.0:0.0:0.0	.	247;272;277	B4DUN1;E9PCL7;P18615	.;.;NELFE_HUMAN	H	277;284;247;272;277	ENSP00000364578:R277H;ENSP00000364574:R284H;ENSP00000388400:R247H;ENSP00000397914:R272H;ENSP00000409389:R277H	ENSP00000364574:R284H	R	-	2	0	RDBP	32030111	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.408000	0.59761	2.652000	0.90054	0.655000	0.94253	CGT		0.512	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			12	96	0	0	0	1	0	12	96				
MUSK	4593	broad.mit.edu	37	9	113562624	113562624	+	Missense_Mutation	SNP	G	G	C	rs373498353		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:113562624G>C	ENST00000374448.4	+	15	2100	c.1966G>C	c.(1966-1968)Gaa>Caa	p.E656Q	MUSK_ENST00000189978.5_Missense_Mutation_p.E656Q|MUSK_ENST00000416899.2_Missense_Mutation_p.E648Q	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	656	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCTGCTCTTTGAATACATGGC	0.507																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(1942-1944)Gaa>Caa		muscle, skeletal, receptor tyrosine kinase		G	GLN/GLU,GLN/GLU,GLN/GLU	0,4222		0,0,2111	129.0	135.0	133.0		1708,1678,1966	5.2	1.0	9		133	1,8441		0,1,4220	no	missense,missense,missense	MUSK	NM_001166280.1,NM_001166281.1,NM_005592.3	29,29,29	0,1,6331	CC,CG,GG		0.0118,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging	570/784,560/774,656/870	113562624	1,12663	2111	4221	6332	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113562624G>C	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1966G>C	9.37:g.113562624G>C	ENSP00000363571:p.Glu656Gln					MUSK_ENST00000189978.5_Missense_Mutation_p.E656Q|MUSK_ENST00000374448.4_Missense_Mutation_p.E656Q	p.E648Q			O15146	MUSK_HUMAN			13	2068	+			656			Protein kinase.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.1942G>C	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711532	0.89112	0.0	1.18E-4	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.66638	-0.22	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84696	0.5529	M	0.88377	2.95	0.80722	D	1	D	0.67145	0.996	D	0.72075	0.976	D	0.87684	0.2549	10	0.87932	D	0	.	18.0096	0.89219	0.0:0.0:1.0:0.0	.	656	O15146	MUSK_HUMAN	Q	662;656;656;570;570;654	ENSP00000363571:E656Q	ENSP00000189978:E662Q	E	+	1	0	MUSK	112602445	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.813000	0.99286	2.558000	0.86282	0.555000	0.69702	GAA		0.507	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				5	213	0	0	0	1	0	5	213				
AKAP4	8852	broad.mit.edu	37	X	49957067	49957067	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:49957067G>C	ENST00000376056.2	-	5	2420	c.2270C>G	c.(2269-2271)tCt>tGt	p.S757C	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.S757C|AKAP4_ENST00000376058.2_Missense_Mutation_p.S383C|AKAP4_ENST00000358526.2_Missense_Mutation_p.S766C					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GCTATTTGTAGAGCACTGATT	0.478																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(2269-2271)tCt>tGt		A kinase (PRKA) anchor protein 4							85.0	60.0	68.0					X																	49957067		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957067G>C	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2270C>G	X.37:g.49957067G>C	ENSP00000365224:p.Ser757Cys					AKAP4_ENST00000376058.2_Missense_Mutation_p.S383C|AKAP4_ENST00000358526.2_Missense_Mutation_p.S766C|AKAP4_ENST00000376064.3_Missense_Mutation_p.S757C|AKAP4_ENST00000481402.1_5'UTR	p.S757C			Q5JQC9	AKAP4_HUMAN			5	2420	-	Ovarian(276;0.236)		766						Missense_Mutation	SNP	ENST00000376056.2	37	c.2270C>G	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722948	0.30503	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	4.94	4.94	0.65067	A-kinase anchor 110kDa, C-terminal (1);	0.129901	0.35378	N	0.003243	T	0.25382	0.0617	M	0.65975	2.015	0.29359	N	0.864789	D;D	0.89917	0.996;1.0	P;D	0.81914	0.888;0.995	T	0.02829	-1.1105	9	.	.	.	-3.4498	12.7504	0.57306	0.0:0.0:1.0:0.0	.	766;383	Q5JQC9;A6ND82	AKAP4_HUMAN;.	C	757;383;766;757	ENSP00000365224:S757C;ENSP00000365226:S383C;ENSP00000351327:S766C;ENSP00000365232:S757C	.	S	-	2	0	AKAP4	49843807	1.000000	0.71417	0.960000	0.40013	0.031000	0.12232	5.449000	0.66619	2.064000	0.61679	0.529000	0.55759	TCT		0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		5	24	0	0	0	1	0	5	24				
CCT5	22948	broad.mit.edu	37	5	10250483	10250483	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:10250483G>A	ENST00000280326.4	+	1	451	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	CCT5_ENST00000515676.1_5'Flank|CCT5_ENST00000506600.1_5'Flank|CCT5_ENST00000503026.1_Intron|FAM173B_ENST00000280330.8_5'Flank|FAM173B_ENST00000511437.1_5'Flank|FAM173B_ENST00000510047.1_5'Flank|FAM173B_ENST00000510052.1_5'Flank|CTD-2256P15.1_ENST00000509915.1_RNA|CCT5_ENST00000515390.1_Missense_Mutation_p.E11K	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	11					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CGCCTTCGATGAATATGGGCG	0.587																																						ENST00000280326.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(31-33)Gaa>Aaa		chaperonin containing TCP1, subunit 5 (epsilon)							81.0	62.0	68.0					5																	10250483		2203	4300	6503	SO:0001583	missense	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10250483G>A	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.31G>A	5.37:g.10250483G>A	ENSP00000280326:p.Glu11Lys					CCT5_ENST00000515390.1_Missense_Mutation_p.E11K|CCT5_ENST00000503026.1_Intron	p.E11K	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN			1	451	+			11					A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	c.31G>A	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	G	37	6.437774	0.97568	.	.	ENSG00000150753	ENST00000280326;ENST00000515390;ENST00000440011	T;T	0.58358	0.34;2.33	5.45	5.45	0.79879	.	0.045054	0.85682	D	0.000000	T	0.67822	0.2934	M	0.84948	2.725	0.80722	D	1	B;P;P;P	0.39282	0.319;0.666;0.666;0.666	B;P;P;P	0.45913	0.037;0.497;0.497;0.497	T	0.72724	-0.4207	10	0.62326	D	0.03	-34.34	18.3542	0.90351	0.0:0.0:1.0:0.0	.	11;9;11;11	E7ENZ3;Q9BU08;A8K2X8;P48643	.;.;.;TCPE_HUMAN	K	11	ENSP00000280326:E11K;ENSP00000426923:E11K	ENSP00000280326:E11K	E	+	1	0	CCT5	10303483	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.737000	0.91562	2.565000	0.86533	0.650000	0.86243	GAA		0.587	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			10	67	0	0	0	1	0	10	67				
GALC	2581	broad.mit.edu	37	14	88429779	88429779	+	Silent	SNP	G	G	A	rs372793797		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr14:88429779G>A	ENST00000261304.2	-	10	1216	c.1110C>T	c.(1108-1110)taC>taT	p.Y370Y	GALC_ENST00000544807.2_Silent_p.Y314Y|GALC_ENST00000393568.4_Silent_p.Y347Y|GALC_ENST00000393569.2_Silent_p.Y344Y	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	370					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAGAGCTACGTAGCTTCCTC	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16132	0.0		0.0	False		,,,				2504	0.0					ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CM973367	GALC	M		c.(1108-1110)taC>taT		galactosylceramidase		G	,,	1,3805		0,1,1902	135.0	126.0	129.0		1110,1041,1032	-7.0	0.5	14		129	0,8226		0,0,4113	no	coding-synonymous,coding-synonymous,coding-synonymous	GALC	NM_000153.3,NM_001201401.1,NM_001201402.1	,,	0,1,6015	AA,AG,GG		0.0,0.0263,0.0083	,,	370/686,347/663,344/660	88429779	1,12031	1903	4113	6016	SO:0001819	synonymous_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88429779G>A	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1110C>T	14.37:g.88429779G>A						GALC_ENST00000393568.4_Silent_p.Y347Y|GALC_ENST00000393569.2_Silent_p.Y344Y|GALC_ENST00000544807.2_Silent_p.Y314Y	p.Y370Y	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			10	1216	-			370					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Silent	SNP	ENST00000261304.2	37	c.1110C>T	CCDS9878.2																																																																																				0.403	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			32	61	0	0	0	1	0	32	61				
WWP2	11060	broad.mit.edu	37	16	69833085	69833085	+	Missense_Mutation	SNP	C	C	T	rs375318503		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:69833085C>T	ENST00000359154.2	+	4	328	c.227C>T	c.(226-228)aCg>aTg	p.T76M	WWP2_ENST00000448661.1_Missense_Mutation_p.T76M|WWP2_ENST00000569174.1_Missense_Mutation_p.T76M|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Missense_Mutation_p.T76M	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	76	C2.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAATGTCACGGCACAGAGT	0.408											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(226-228)aCg>aTg		WW domain containing E3 ubiquitin protein ligase 2		C	MET/THR,MET/THR	1,4395	2.1+/-5.4	0,1,2197	110.0	110.0	110.0		227,227	5.9	1.0	16		110	0,8600		0,0,4300	no	missense,missense	WWP2	NM_007014.3,NM_199423.1	81,81	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	76/871,76/336	69833085	1,12995	2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69833085C>T	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.227C>T	16.37:g.69833085C>T	ENSP00000352069:p.Thr76Met		OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1117	WWP2_ENST00000448661.1_Missense_Mutation_p.T76M|WWP2_ENST00000356003.2_Missense_Mutation_p.T76M|WWP2_ENST00000569174.1_Missense_Mutation_p.T76M|WWP2_ENST00000544162.1_3'UTR	p.T76M	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			4	328	+			76			C2.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.227C>T	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213754	0.58452	2.27E-4	0.0	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003	T;T;T	0.68025	-0.3;-0.3;-0.3	5.86	5.86	0.93980	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.105577	0.64402	D	0.000004	T	0.80808	0.4694	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.79701	-0.1693	9	.	.	.	.	16.9179	0.86156	0.0:1.0:0.0:0.0	.	76	O00308	WWP2_HUMAN	M	76	ENSP00000352069:T76M;ENSP00000396871:T76M;ENSP00000348283:T76M	.	T	+	2	0	WWP2	68390586	1.000000	0.71417	0.998000	0.56505	0.032000	0.12392	6.993000	0.76245	2.781000	0.95711	0.650000	0.86243	ACG		0.408	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		18	101	0	0	0	1	0	18	101				
SLC10A5	347051	broad.mit.edu	37	8	82606749	82606749	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:82606749C>G	ENST00000518568.1	-	1	1660	c.459G>C	c.(457-459)ttG>ttC	p.L153F		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	153						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CACACTTATTCAATAGTATTA	0.353																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(457-459)ttG>ttC		solute carrier family 10, member 5							78.0	79.0	79.0					8																	82606749		2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606749C>G		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.459G>C	8.37:g.82606749C>G	ENSP00000428612:p.Leu153Phe						p.L153F	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1660	-			153					B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.459G>C	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	C	6.752	0.507646	0.12883	.	.	ENSG00000253598	ENST00000518568	T	0.12774	2.65	5.92	-0.98	0.10272	.	0.239089	0.23021	N	0.052843	T	0.07279	0.0184	L	0.28740	0.885	0.39898	D	0.973864	B	0.21688	0.059	B	0.21917	0.037	T	0.25641	-1.0126	10	0.41790	T	0.15	-7.0306	1.7001	0.02870	0.1357:0.1661:0.3671:0.331	.	153	Q5PT55	NTCP5_HUMAN	F	153	ENSP00000428612:L153F	ENSP00000428612:L153F	L	-	3	2	SLC10A5	82769304	1.000000	0.71417	0.980000	0.43619	0.009000	0.06853	2.577000	0.46042	0.123000	0.18342	-0.768000	0.03414	TTG		0.353	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		36	132	0	0	0	1	0	36	132				
DPY19L1	23333	broad.mit.edu	37	7	35009117	35009117	+	Silent	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:35009117C>T	ENST00000310974.4	-	9	867	c.723G>A	c.(721-723)ttG>ttA	p.L241L	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	241						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AGAGTGCAATCAAGCTTCCTC	0.353																																						ENST00000310974.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(721-723)ttG>ttA		dpy-19-like 1 (C. elegans)							83.0	78.0	79.0					7																	35009117		1839	4096	5935	SO:0001819	synonymous_variant	23333					integral to membrane		g.chr7:35009117C>T	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.723G>A	7.37:g.35009117C>T						DPY19L1_ENST00000462134.2_5'UTR	p.L241L	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			9	867	-			241					O94954|Q4G151	Silent	SNP	ENST00000310974.4	37	c.723G>A	CCDS43567.1																																																																																				0.353	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			16	46	0	0	0	1	0	16	46				
HERC2P4	100289574	broad.mit.edu	37	16	32163490	32163490	+	IGR	SNP	A	A	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:32163490A>G								RP11-1166P10.6 (67384 upstream) : HERC2P4 (17814 downstream)																							AGAGAACTGCACGGTGATTTT	0.527																																						ENST00000564145.1																			0																																																	SO:0001628	intergenic_variant	100289574							g.chr16:32163490A>G																													16.37:g.32163490A>G														0	65	-									RNA	SNP		37																																																																																					0	0.527									16	121	0	0	0	1	0	16	121				
OR52I2	143502	broad.mit.edu	37	11	4609034	4609034	+	Missense_Mutation	SNP	G	G	A	rs537937831		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:4609034G>A	ENST00000312614.4	+	1	1014	c.992G>A	c.(991-993)cGg>cAg	p.R331Q		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	331						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R331L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAACAACTGCGGGAGAGAATA	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		21380	0.0		0.0	False		,,,				2504	0.001					ENST00000312614.4																			1	Substitution - Missense(1)	p.R331L(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(991-993)cGg>cAg		olfactory receptor, family 52, subfamily I, member 2							174.0	172.0	173.0					11																	4609034		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4609034G>A	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.992G>A	11.37:g.4609034G>A	ENSP00000308764:p.Arg331Gln						p.R331Q	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	1014	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	331					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.992G>A	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659472	0.29515	.	.	ENSG00000226288	ENST00000312614	T	0.57273	0.41	4.17	2.14	0.27477	.	0.458573	0.15855	N	0.241294	T	0.44871	0.1314	M	0.62016	1.91	0.09310	N	1	B	0.21071	0.051	B	0.12837	0.008	T	0.38499	-0.9658	10	0.45353	T	0.12	-2.6965	6.1807	0.20470	0.1011:0.0:0.7167:0.1822	.	331	Q8NH67	O52I2_HUMAN	Q	331	ENSP00000308764:R331Q	ENSP00000308764:R331Q	R	+	2	0	OR52I2	4565610	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	0.394000	0.20834	0.980000	0.38523	0.638000	0.83543	CGG		0.473	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		32	175	0	0	0	1	0	32	175				
CACNG4	27092	broad.mit.edu	37	17	65026756	65026756	+	Missense_Mutation	SNP	T	T	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:65026756T>C	ENST00000262138.3	+	4	622	c.620T>C	c.(619-621)aTt>aCt	p.I207T	RP11-74H8.1_ENST00000579138.1_RNA|AC005544.1_ENST00000375684.1_5'Flank	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	207					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AACATTTACATTGAGAAAAAT	0.458																																						ENST00000262138.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(619-621)aTt>aCt		calcium channel, voltage-dependent, gamma subunit 4							80.0	79.0	80.0					17																	65026756		2203	4300	6503	SO:0001583	missense	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65026756T>C	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.620T>C	17.37:g.65026756T>C	ENSP00000262138:p.Ile207Thr						p.I207T	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		4	622	+	all_cancers(12;9.86e-11)		207					B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	c.620T>C	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.796591	0.70567	.	.	ENSG00000075461	ENST00000262138	T	0.60299	0.2	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.71651	0.3365	M	0.79123	2.44	0.80722	D	1	D	0.53312	0.959	P	0.58721	0.844	T	0.72308	-0.4332	10	0.33940	T	0.23	-13.32	14.6013	0.68443	0.0:0.0:0.0:1.0	.	207	Q9UBN1	CCG4_HUMAN	T	207	ENSP00000262138:I207T	ENSP00000262138:I207T	I	+	2	0	CACNG4	62457218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.569000	0.82380	1.854000	0.53819	0.454000	0.30748	ATT		0.458	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		45	103	0	0	0	1	0	45	103				
DUOXA2	405753	broad.mit.edu	37	15	45410062	45410062	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr15:45410062G>A	ENST00000323030.5	+	6	1203	c.918G>A	c.(916-918)aaG>aaA	p.K306K	DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000267803.4_Intron|DUOXA1_ENST00000430224.2_Intron	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	306					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CACTGCACAAGCAGGCCGCTC	0.612											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000323030.5																			0											c.(916-918)aaG>aaA		dual oxidase maturation factor 2							58.0	68.0	65.0					15																	45410062		2198	4298	6496	SO:0001819	synonymous_variant	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45410062G>A	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.918G>A	15.37:g.45410062G>A			OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000267803.4_Intron	p.K306K	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	6	1203	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	306					B2RPI9|H0YNQ6	Silent	SNP	ENST00000323030.5	37	c.918G>A	CCDS10118.2																																																																																				0.612	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		22	83	0	0	0	1	0	22	83				
POC1A	25886	broad.mit.edu	37	3	52183327	52183327	+	Silent	SNP	G	G	A	rs150866318	byFrequency	TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:52183327G>A	ENST00000296484.2	-	4	393	c.354C>T	c.(352-354)ttC>ttT	p.F118F	POC1A_ENST00000394970.2_Silent_p.F118F|POC1A_ENST00000474012.1_Silent_p.F80F	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	118					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AGGCTGTCACGAAGGACTGGC	0.537													G|||	5	0.000998403	0.003	0.0	5008	,	,		20911	0.0		0.001	False		,,,				2504	0.0					ENST00000394970.2																			0				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						c.(352-354)ttC>ttT		POC1 centriolar protein A		G	,,	6,4400	12.9+/-30.5	0,6,2197	169.0	133.0	146.0		354,240,354	-11.0	0.3	3	dbSNP_134	146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	POC1A	NM_001161580.1,NM_001161581.1,NM_015426.4	,,	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,,	118/360,80/370,118/408	52183327	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	25886					centriole|microtubule basal body		g.chr3:52183327G>A	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.354C>T	3.37:g.52183327G>A						POC1A_ENST00000296484.2_Silent_p.F118F|POC1A_ENST00000474012.1_Silent_p.F80F	p.F118F	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN			4	671	-			118					A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Silent	SNP	ENST00000296484.2	37	c.354C>T	CCDS2846.1																																																																																				0.537	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426		33	68	0	0	0	1	0	33	68				
PTER	9317	broad.mit.edu	37	10	16526539	16526539	+	Silent	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:16526539C>T	ENST00000378000.1	+	3	402	c.156C>T	c.(154-156)atC>atT	p.I52I	PTER_ENST00000535784.2_Silent_p.I52I|PTER_ENST00000423462.2_Silent_p.I52I|PTER_ENST00000298942.3_Silent_p.I52I	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	52					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AAGAACCTATCGTGATGAAAA	0.438																																					Ovarian(2;46 150 15648 38137 47908)	ENST00000378000.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						c.(154-156)atC>atT		phosphotriesterase related							85.0	88.0	87.0					10																	16526539		2203	4300	6503	SO:0001819	synonymous_variant	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16526539C>T	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.156C>T	10.37:g.16526539C>T						PTER_ENST00000423462.2_Silent_p.I52I|PTER_ENST00000298942.3_Silent_p.I52I|PTER_ENST00000535784.2_Silent_p.I52I	p.I52I	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN			3	402	+			52					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Silent	SNP	ENST00000378000.1	37	c.156C>T	CCDS7111.1																																																																																				0.438	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		7	94	0	0	0	1	0	7	94				
ISCA1	81689	broad.mit.edu	37	9	88881057	88881057	+	Silent	SNP	T	T	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:88881057T>C	ENST00000375991.4	-	4	361	c.291A>G	c.(289-291)acA>acG	p.T97T	ISCA1_ENST00000311534.6_5'UTR|ISCA1_ENST00000452279.2_Silent_p.T144T	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	97					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		AGTCCATTTCTGTTCCTAAAA	0.383																																						ENST00000375991.4																			0				endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8						c.(289-291)acA>acG		iron-sulfur cluster assembly 1							83.0	92.0	89.0					9																	88881057		2203	4297	6500	SO:0001819	synonymous_variant	81689				iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity	g.chr9:88881057T>C	AF038186	CCDS35056.1	9q22.1	2013-08-06	2013-08-06	2007-01-18	ENSG00000135070	ENSG00000135070			28660	protein-coding gene	gene with protein product		611006	"""HESB like domain containing 2"", ""iron-sulfur cluster assembly 1 homolog (S. cerevisiae)"""	HBLD2		15262227, 22323289	Standard	NM_030940		Approved	MGC4276, ISA1, hIscA	uc004aop.3	Q9BUE6	OTTHUMG00000020135	ENST00000375991.4:c.291A>G	9.37:g.88881057T>C						ISCA1_ENST00000311534.6_5'UTR|ISCA1_ENST00000452279.2_Silent_p.T144T	p.T97T	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)	4	361	-			97					B3KP34|B4DJI5|Q8ND75|Q9BZR2	Silent	SNP	ENST00000375991.4	37	c.291A>G	CCDS35056.1																																																																																				0.383	ISCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052914.1	NM_030940		28	244	0	0	0	1	0	28	244				
SETX	23064	broad.mit.edu	37	9	135173682	135173682	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:135173682C>A	ENST00000224140.5	-	13	5748	c.5566G>T	c.(5566-5568)Gag>Tag	p.E1856*	SETX_ENST00000393220.1_Nonsense_Mutation_p.E1856*|SETX_ENST00000372169.2_Nonsense_Mutation_p.E1856*	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1856					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)		AGGTAACACTCAGTTTTCCCA	0.373																																						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.(5566-5568)Gag>Tag		senataxin							78.0	74.0	76.0					9																	135173682		2203	4300	6503	SO:0001587	stop_gained	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135173682C>A	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.5566G>T	9.37:g.135173682C>A	ENSP00000224140:p.Glu1856*					SETX_ENST00000224140.5_Nonsense_Mutation_p.E1856*|SETX_ENST00000393220.1_Nonsense_Mutation_p.E1856*	p.E1856*			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	13	5748	-		Myeloproliferative disorder(178;0.204)	1856					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Nonsense_Mutation	SNP	ENST00000224140.5	37	c.5566G>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	45	12.038123	0.99630	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	.	.	.	5.88	4.97	0.65823	.	0.424311	0.21916	N	0.067237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	8.1486	0.31126	0.0:0.8489:0.0:0.1511	.	.	.	.	X	1856;98;1856;1856	.	ENSP00000224140:E1856X	E	-	1	0	SETX	134163503	0.990000	0.36364	0.959000	0.39883	0.334000	0.28698	2.784000	0.47774	2.773000	0.95371	0.591000	0.81541	GAG		0.373	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		59	88	1	0	6.83704e-37	1	7.71118e-37	59	88				
LOC101927905	101927905	broad.mit.edu	37	12	8391292	8391292	+	lincRNA	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:8391292G>A	ENST00000304751.9	+	0	585				FAM86FP_ENST00000427893.2_RNA																							AGAAAGCACCGGGCATACTTG	0.562																																						ENST00000304751.9																			0																																																			101927905							g.chr12:8391292G>A																													12.37:g.8391292G>A						FAM86FP_ENST00000427893.2_RNA								0	585	+									RNA	SNP	ENST00000304751.9	37																																																																																						0.562	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			5	78	0	0	0	1	0	5	78				
ZKSCAN7	55888	broad.mit.edu	37	3	44609924	44609924	+	Splice_Site	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:44609924G>C	ENST00000273320.3	+	5	1239	c.810G>C	c.(808-810)ttG>ttC	p.L270F	ZKSCAN7_ENST00000341840.3_Splice_Site_p.L270F|RP11-944L7.5_ENST00000419137.1_Splice_Site_p.L105F|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Splice_Site_p.L270F|ZKSCAN7_ENST00000431636.1_Splice_Site_p.L270F	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	270	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGGCCTCCTTGGGTAATGATT	0.403																																						ENST00000273320.3																			0											c.e5+1		zinc finger with KRAB and SCAN domains 7							127.0	124.0	125.0					3																	44609924		2203	4300	6503	SO:0001630	splice_region_variant	55888							g.chr3:44609924G>C	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.811+1G>C	3.37:g.44609924G>C						ZKSCAN7_ENST00000341840.3_Splice_Site_p.L270_splice|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Splice_Site_p.L270_splice|ZKSCAN7_ENST00000431636.1_Splice_Site_p.L270_splice	p.L270_splice	NM_018651.2	NP_061121.2					5	1239	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Splice_Site	SNP	ENST00000273320.3	37	c.811_splice	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.139507	0.56936	.	.	ENSG00000196345	ENST00000431636;ENST00000426540;ENST00000341840;ENST00000273320;ENST00000447279;ENST00000419137	T;T;T;T;T;T	0.02787	4.16;4.16;4.16;4.16;4.16;4.16	3.45	2.57	0.30868	Krueppel-associated box (4);	.	.	.	.	T	0.12518	0.0304	M	0.75777	2.31	0.26011	N	0.981999	P;D;D	0.76494	0.954;0.999;0.999	P;D;D	0.83275	0.597;0.996;0.988	T	0.03555	-1.1025	9	0.87932	D	0	0.1565	8.5426	0.33402	0.118:0.0:0.882:0.0	.	141;270;270	A7MAY2;Q9P0L1;Q9P0L1-2	.;ZN167_HUMAN;.	F	270;270;270;270;120;105	ENSP00000416681:L270F;ENSP00000395524:L270F;ENSP00000345404:L270F;ENSP00000273320:L270F;ENSP00000405034:L120F;ENSP00000389243:L105F	ENSP00000273320:L270F	L	+	3	2	ZNF167	44584928	0.964000	0.33143	0.648000	0.29521	0.133000	0.20885	0.882000	0.28186	0.786000	0.33708	0.591000	0.81541	TTG		0.403	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651	Missense_Mutation	18	50	0	0	0	1	0	18	50				
FAM186B	84070	broad.mit.edu	37	12	49994396	49994396	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:49994396C>G	ENST00000257894.2	-	4	1188	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.E253Q	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	343						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTCTCTCTCTCAGAGGGACCT	0.542																																						ENST00000544141.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(757-759)Gag>Cag		family with sequence similarity 186, member B							134.0	129.0	130.0					12																	49994396		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49994396C>G	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1027G>C	12.37:g.49994396C>G	ENSP00000257894:p.Glu343Gln					PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000257894.2_Missense_Mutation_p.E343Q	p.E253Q			Q8IYM0	F186B_HUMAN			4	1356	-			343					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.757G>C	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463733	0.26335	.	.	ENSG00000135436	ENST00000544141;ENST00000257894	T;T	0.14144	2.53;2.74	5.11	1.99	0.26369	.	0.477360	0.17718	N	0.164346	T	0.11922	0.0290	L	0.56769	1.78	0.22280	N	0.999233	P;P	0.40431	0.717;0.717	B;B	0.37198	0.243;0.243	T	0.15178	-1.0446	9	.	.	.	-9.2822	5.3087	0.15817	0.0:0.6361:0.1648:0.1991	.	253;343	B4DZ15;Q8IYM0	.;F186B_HUMAN	Q	253;343	ENSP00000438569:E253Q;ENSP00000257894:E343Q	.	E	-	1	0	FAM186B	48280663	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-0.034000	0.12225	0.284000	0.22305	0.655000	0.94253	GAG		0.542	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		22	191	0	0	0	1	0	22	191				
DHRS9	10170	broad.mit.edu	37	2	169938254	169938254	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:169938254C>T	ENST00000327239.4	+	5	1667	c.163C>T	c.(163-165)Cat>Tat	p.H55Y	DHRS9_ENST00000602501.1_Missense_Mutation_p.H55Y|DHRS9_ENST00000428522.1_Missense_Mutation_p.H55Y|DHRS9_ENST00000436483.2_Missense_Mutation_p.H55Y|DHRS9_ENST00000357546.2_Missense_Mutation_p.H55Y|DHRS9_ENST00000432060.2_Missense_Mutation_p.H115Y|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000412271.1_Missense_Mutation_p.H55Y	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	55					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AAAGGGATTTCATGTAATCGC	0.428																																						ENST00000327239.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(163-165)Cat>Tat		dehydrogenase/reductase (SDR family) member 9							92.0	93.0	93.0					2																	169938254		2203	4300	6503	SO:0001583	missense	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169938254C>T	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.163C>T	2.37:g.169938254C>T	ENSP00000316670:p.His55Tyr					DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000412271.1_Missense_Mutation_p.H55Y|DHRS9_ENST00000357546.2_Missense_Mutation_p.H55Y|DHRS9_ENST00000428522.1_Missense_Mutation_p.H55Y|DHRS9_ENST00000436483.2_Missense_Mutation_p.H55Y|DHRS9_ENST00000602501.1_Missense_Mutation_p.H55Y|DHRS9_ENST00000432060.2_Missense_Mutation_p.H115Y	p.H55Y	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN			5	1667	+			55					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	c.163C>T	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308019	0.60305	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000450153;ENST00000436483;ENST00000412271	D;D;D;D;T;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;0.66;-2.24;-2.24	6.02	6.02	0.97574	NAD(P)-binding domain (1);	0.508491	0.22532	N	0.058827	D	0.82393	0.5027	L	0.43701	1.375	0.32550	N	0.5325	B;B	0.17465	0.022;0.011	B;B	0.18263	0.021;0.015	T	0.78573	-0.2152	10	0.20046	T	0.44	.	14.3272	0.66528	0.0:0.9289:0.0:0.0711	.	115;55	B7Z416;Q9BPW9	.;DHRS9_HUMAN	Y	55;55;115;55;55;55;55	ENSP00000316670:H55Y;ENSP00000350154:H55Y;ENSP00000389241:H115Y;ENSP00000388564:H55Y;ENSP00000391214:H55Y;ENSP00000407167:H55Y;ENSP00000407747:H55Y	ENSP00000316670:H55Y	H	+	1	0	DHRS9	169646500	0.964000	0.33143	0.980000	0.43619	0.900000	0.52787	2.280000	0.43443	2.865000	0.98341	0.655000	0.94253	CAT		0.428	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		5	91	0	0	0	1	0	5	91				
LRTM1	57408	broad.mit.edu	37	3	54952906	54952906	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:54952906G>C	ENST00000273286.5	-	3	780	c.618C>G	c.(616-618)gaC>gaG	p.D206E	LRTM1_ENST00000493075.1_Missense_Mutation_p.D130E|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	206	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGATGATGCCGTCTGTTAGTC	0.473																																						ENST00000273286.5																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21						c.(616-618)gaC>gaG		leucine-rich repeats and transmembrane domains 1							41.0	40.0	40.0					3																	54952906		2203	4300	6503	SO:0001583	missense	57408					integral to membrane		g.chr3:54952906G>C	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.618C>G	3.37:g.54952906G>C	ENSP00000273286:p.Asp206Glu					LRTM1_ENST00000493075.1_Missense_Mutation_p.D130E|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron	p.D206E	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)	3	780	-			206			LRRCT.		Q8IUU2	Missense_Mutation	SNP	ENST00000273286.5	37	c.618C>G	CCDS2876.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608064	0.28623	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.89746	0.65;-2.56	6.07	-2.81	0.05805	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91479	0.7310	M	0.69823	2.125	0.33891	D	0.637397	D	0.89917	1.0	D	0.70487	0.969	D	0.90643	0.4576	10	0.51188	T	0.08	.	11.1178	0.48270	0.6342:0.0:0.3658:0.0	.	206	Q9HBL6	LRTM1_HUMAN	E	206;130	ENSP00000273286:D206E;ENSP00000419772:D130E	ENSP00000273286:D206E	D	-	3	2	LRTM1	54927946	0.009000	0.17119	0.009000	0.14445	0.006000	0.05464	-0.048000	0.11944	-0.635000	0.05531	-1.202000	0.01658	GAC		0.473	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		15	27	0	0	0	1	0	15	27				
DNLZ	728489	broad.mit.edu	37	9	139256512	139256512	+	Silent	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:139256512C>T	ENST00000371738.3	-	3	563	c.489G>A	c.(487-489)gcG>gcA	p.A163A	CARD9_ENST00000460290.1_5'Flank|DNLZ_ENST00000371739.3_Missense_Mutation_p.G117R	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	163						mitochondrion (GO:0005739)	zinc ion binding (GO:0008270)			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		CATCCTCACCCGCTTCCGGAG	0.692																																						ENST00000371739.3																			0				central_nervous_system(1)|prostate(1)	2						c.(349-351)Ggg>Agg		DNL-type zinc finger							15.0	19.0	18.0					9																	139256512		2193	4295	6488	SO:0001819	synonymous_variant	728489						metal ion binding	g.chr9:139256512C>T	AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221		"""Zinc fingers"""	33879	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 15 homolog (yeast)"", ""HSP70 escort protein"""		"""chromosome 9 open reading frame 151"""	C9orf151		21530495, 22162012	Standard	NM_001080849		Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371738.3:c.489G>A	9.37:g.139256512C>T						DNLZ_ENST00000371738.3_Silent_p.A163A	p.G117R			Q5SXM8	DNLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)	2	353	-		Myeloproliferative disorder(178;0.0821)	0					B2RUX5|B9EJE1	Missense_Mutation	SNP	ENST00000371738.3	37	c.349G>A	CCDS35179.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596138	0.46318	.	.	ENSG00000213221	ENST00000371739	.	.	.	3.49	-0.71	0.11234	.	.	.	.	.	T	0.36880	0.0983	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38735	-0.9647	5	0.87932	D	0	-5.1672	4.358	0.11188	0.2289:0.4677:0.2228:0.0805	.	.	.	.	R	117	.	ENSP00000360804:G117R	G	-	1	0	DNLZ	138376333	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.422000	0.21296	-0.399000	0.07668	-1.579000	0.00862	GGG		0.692	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055075.2	NM_001080849		3	21	0	0	0	1	0	3	21				
PLEKHS1	79949	broad.mit.edu	37	10	115536953	115536953	+	Missense_Mutation	SNP	A	A	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:115536953A>G	ENST00000369310.3	+	11	1664	c.1102A>G	c.(1102-1104)Aat>Gat	p.N368D	PLEKHS1_ENST00000361048.1_Intron|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.N202D|PLEKHS1_ENST00000354462.3_Missense_Mutation_p.N118D|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.N286D	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	382																	TCTGGCAGTGAATGACCTGAA	0.537																																						ENST00000354462.3																			0											c.(352-354)Aat>Gat		pleckstrin homology domain containing, family S member 1							50.0	46.0	47.0					10																	115536953		876	1991	2867	SO:0001583	missense	79949							g.chr10:115536953A>G	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.1102A>G	10.37:g.115536953A>G	ENSP00000358316:p.Asn368Asp					PLEKHS1_ENST00000369312.4_Missense_Mutation_p.N286D|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.N202D|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.N368D|PLEKHS1_ENST00000361048.1_Intron	p.N118D							5	510	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.352A>G	CCDS53580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.6|25.6	4.650000|4.650000	0.87958|0.87958	.|.	.|.	ENSG00000148735|ENSG00000148735	ENST00000448805|ENST00000369312;ENST00000369310;ENST00000369309;ENST00000354462	.|T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53351|0.53351	0.1791|0.1791	M|M	0.68952|0.68952	2.095|2.095	0.36987|0.36987	D|D	0.894593|0.894593	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.998;0.998	T|T	0.63260|0.63260	-0.6677|-0.6677	5|10	.|0.87932	.|D	.|0	-41.285|-41.285	12.8402|12.8402	0.57797|0.57797	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|382;368;368	.|Q5SXH7;Q5SXH7-5;Q5SXH7-2	.|CJ081_HUMAN;.;.	G|D	98|286;368;202;118	.|ENSP00000358318:N286D;ENSP00000358316:N368D;ENSP00000358315:N202D;ENSP00000346451:N118D	.|ENSP00000346451:N118D	E|N	+|+	2|1	0|0	C10orf81|C10orf81	115526943|115526943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	5.061000|5.061000	0.64319|0.64319	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	GAA|AAT		0.537	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		6	34	0	0	0	1	0	6	34				
GRIP2	80852	broad.mit.edu	37	3	14564568	14564568	+	RNA	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:14564568C>G	ENST00000273083.3	-	0	570							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTGTGCCCATCTTCATGGGCA	0.617																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							55.0	60.0	59.0					3																	14564568		1953	4129	6082			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14564568C>G	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14564568C>G										Q9C0E4	GRIP2_HUMAN			0	570	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.617	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		11	86	0	0	0	1	0	11	86				
MYH10	4628	broad.mit.edu	37	17	8526300	8526300	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:8526300C>T	ENST00000269243.4	-	2	403	c.265G>A	c.(265-267)Gat>Aat	p.D89N	MYH10_ENST00000379980.4_Missense_Mutation_p.D89N|MYH10_ENST00000360416.3_Missense_Mutation_p.D89N|MYH10_ENST00000396239.1_Missense_Mutation_p.D89N	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	89	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTGCCATATCCTCCACCTTG	0.378																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(265-267)Gat>Aat		myosin, heavy chain 10, non-muscle							193.0	180.0	184.0					17																	8526300		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8526300C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.265G>A	17.37:g.8526300C>T	ENSP00000269243:p.Asp89Asn					MYH10_ENST00000396239.1_Missense_Mutation_p.D89N|MYH10_ENST00000269243.4_Missense_Mutation_p.D89N|MYH10_ENST00000379980.4_Missense_Mutation_p.D89N	p.D89N	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			2	403	-			89			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.265G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098941	0.94197	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980;ENST00000411957	D;D;D;D;D	0.98345	-1.73;-1.73;-4.88;-1.73;-1.73	4.82	4.82	0.62117	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	M	0.93462	3.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99072	1.0834	10	0.87932	D	0	.	17.6889	0.88263	0.0:1.0:0.0:0.0	.	89;89;89	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	N	89	ENSP00000269243:D89N;ENSP00000353590:D89N;ENSP00000379539:D89N;ENSP00000369315:D89N;ENSP00000408220:D89N	ENSP00000269243:D89N	D	-	1	0	MYH10	8467025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.562000	0.82300	2.497000	0.84241	0.561000	0.74099	GAT		0.378	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			43	158	0	0	0	1	0	43	158				
ITIH6	347365	broad.mit.edu	37	X	54817504	54817504	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:54817504C>T	ENST00000218436.6	-	4	411	c.382G>A	c.(382-384)Gag>Aag	p.E128K	ITIH6_ENST00000498398.1_5'Flank	NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	128	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CGGAACTTCTCTGATTCCCGG	0.582																																						ENST00000218436.6																			0											c.(382-384)Gag>Aag		inter-alpha-trypsin inhibitor heavy chain family, member 6							39.0	35.0	36.0					X																	54817504		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54817504C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.382G>A	X.37:g.54817504C>T	ENSP00000218436:p.Glu128Lys						p.E128K	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			4	411	-			128			VIT.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.382G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161974	0.57368	.	.	ENSG00000102313	ENST00000218436	T	0.28255	1.62	4.74	1.91	0.25777	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.067677	0.56097	U	0.000029	T	0.25457	0.0619	L	0.39566	1.225	0.31345	N	0.683234	B	0.26483	0.15	B	0.34346	0.18	T	0.22977	-1.0201	10	0.29301	T	0.29	.	9.4332	0.38624	0.0:0.7267:0.0:0.2733	.	128	Q6UXX5	ITH5L_HUMAN	K	128	ENSP00000218436:E128K	ENSP00000218436:E128K	E	-	1	0	ITIH5L	54834229	1.000000	0.71417	0.009000	0.14445	0.774000	0.43823	3.637000	0.54324	0.374000	0.24650	0.550000	0.68814	GAG		0.582	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		3	32	0	0	0	1	0	3	32				
ATP2B4	493	broad.mit.edu	37	1	203668809	203668809	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:203668809G>A	ENST00000357681.5	+	4	1736	c.613G>A	c.(613-615)Gag>Aag	p.E205K	ATP2B4_ENST00000341360.2_Missense_Mutation_p.E205K|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E205K|ATP2B4_ENST00000367218.3_Missense_Mutation_p.E205K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E205K	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	205					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCTGTGGCTGAGATTGTGGT	0.512																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(613-615)Gag>Aag		ATPase, Ca++ transporting, plasma membrane 4							185.0	168.0	174.0					1																	203668809		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203668809G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.613G>A	1.37:g.203668809G>A	ENSP00000350310:p.Glu205Lys					ATP2B4_ENST00000367218.3_Missense_Mutation_p.E205K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E205K|ATP2B4_ENST00000341360.2_Missense_Mutation_p.E205K|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E205K	p.E205K	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		4	1736	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		205					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.613G>A	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	35	5.525705	0.96431	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95	5.4	5.4	0.78164	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.258976	0.27563	N	0.018804	D	0.92001	0.7466	M	0.78801	2.425	0.80722	D	1	P;B;P	0.42010	0.768;0.256;0.565	B;B;B	0.37015	0.239;0.159;0.239	D	0.93277	0.6657	10	0.87932	D	0	-28.8907	18.7848	0.91949	0.0:0.0:1.0:0.0	.	205;205;205	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	K	205	ENSP00000350310:E205K;ENSP00000356187:E205K;ENSP00000356188:E205K;ENSP00000375816:E205K;ENSP00000340930:E205K	ENSP00000340930:E205K	E	+	1	0	ATP2B4	201935432	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.862000	0.99564	2.548000	0.85928	0.655000	0.94253	GAG		0.512	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		87	159	0	0	0	1	0	87	159				
DOCK8	81704	broad.mit.edu	37	9	368169	368169	+	Intron	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:368169G>A	ENST00000453981.1	+	15	1909				DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000382329.1_Missense_Mutation_p.G23R|DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000469391.1_Intron			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCTCAAATCAGGGTGGGCTGC	0.498																																						ENST00000382329.1																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(67-69)Ggg>Agg		dedicator of cytokinesis 8							105.0	86.0	93.0					9																	368169		2203	4300	6503	SO:0001627	intron_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:368169G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1797+34G>A	9.37:g.368169G>A						DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000469391.1_Intron|DOCK8_ENST00000453981.1_Intron|DOCK8_ENST00000382331.1_Intron	p.G23R			Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	2	454	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	0					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.67G>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875952	0.33162	.	.	ENSG00000107099	ENST00000382329	T	0.17213	2.29	5.0	3.12	0.35913	.	.	.	.	.	T	0.09992	0.0245	.	.	.	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.36648	-0.9739	7	.	.	.	.	7.0627	0.25135	0.0945:0.1741:0.7314:0.0	.	23	A2A369	.	R	23	ENSP00000371766:G23R	.	G	+	1	0	DOCK8	358169	0.346000	0.24844	0.002000	0.10522	0.080000	0.17528	2.561000	0.45905	0.620000	0.30215	-0.142000	0.14014	GGG		0.498	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		18	89	0	0	0	1	0	18	89				
FBXO4	26272	broad.mit.edu	37	5	41927222	41927222	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:41927222G>C	ENST00000281623.3	+	2	353	c.297G>C	c.(295-297)tgG>tgC	p.W99C	FBXO4_ENST00000296812.2_Missense_Mutation_p.W99C|FBXO4_ENST00000509134.1_Missense_Mutation_p.W99C	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	99	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				CAATTCTGTGGAGATACTTTT	0.373																																						ENST00000296812.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27						c.(295-297)tgG>tgC		F-box protein 4							181.0	179.0	180.0					5																	41927222		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41927222G>C	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.297G>C	5.37:g.41927222G>C	ENSP00000281623:p.Trp99Cys					FBXO4_ENST00000281623.3_Missense_Mutation_p.W99C|FBXO4_ENST00000509134.1_Missense_Mutation_p.W99C	p.W99C	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN			2	353	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	99			F-box.		Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.297G>C	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188981	0.78789	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.76448	-1.02;-1.02;-1.02	5.62	5.62	0.85841	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91711	0.5381	10	0.87932	D	0	-8.852	19.6604	0.95864	0.0:0.0:1.0:0.0	.	99;99;99	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	C	99	ENSP00000296812:W99C;ENSP00000281623:W99C;ENSP00000421749:W99C	ENSP00000281623:W99C	W	+	3	0	FBXO4	41962979	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.114000	0.94329	2.648000	0.89879	0.655000	0.94253	TGG		0.373	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			26	102	0	0	0	1	0	26	102				
CREBBP	1387	broad.mit.edu	37	16	3779447	3779447	+	Silent	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:3779447C>T	ENST00000262367.5	-	31	6410	c.5601G>A	c.(5599-5601)cgG>cgA	p.R1867R	CREBBP_ENST00000382070.3_Silent_p.R1829R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1867	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)			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)		TGGCCATCCGCCGGCGCATGA	0.637			"""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 """		0				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.(5599-5601)cgG>cgA		CREB binding protein							77.0	70.0	72.0					16																	3779447		2197	4300	6497	SO:0001819	synonymous_variant	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.chr16:3779447C>T	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.5601G>A	16.37:g.3779447C>T						CREBBP_ENST00000382070.3_Silent_p.R1829R	p.R1867R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6410	-		Ovarian(90;0.0266)	1867			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.5601G>A	CCDS10509.1																																																																																				0.637	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		13	71	0	0	0	1	0	13	71				
MME	4311	broad.mit.edu	37	3	154834708	154834708	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:154834708G>C	ENST00000460393.1	+	7	707	c.587G>C	c.(586-588)gGg>gCg	p.G196A	MME_ENST00000462745.1_Missense_Mutation_p.G196A|MME_ENST00000360490.2_Missense_Mutation_p.G196A|MME_ENST00000492661.1_Missense_Mutation_p.G196A|MME_ENST00000493237.1_Missense_Mutation_p.G196A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	196					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TCTAAATATGGGAAAAAAGTC	0.299																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(586-588)gGg>gCg		membrane metallo-endopeptidase	Candoxatril(DB00616)						59.0	62.0	61.0					3																	154834708		2203	4296	6499	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154834708G>C		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.587G>C	3.37:g.154834708G>C	ENSP00000418525:p.Gly196Ala					MME_ENST00000360490.2_Missense_Mutation_p.G196A|MME_ENST00000493237.1_Missense_Mutation_p.G196A|MME_ENST00000492661.1_Missense_Mutation_p.G196A|MME_ENST00000462745.1_Missense_Mutation_p.G196A	p.G196A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		7	707	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	196					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.587G>C	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809104	0.90707	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	6.17	6.17	0.99709	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.90222	0.6943	M	0.61703	1.905	0.80722	D	1	P	0.51653	0.947	P	0.56163	0.793	D	0.88636	0.3172	10	0.48119	T	0.1	-17.3383	20.8794	0.99867	0.0:0.0:1.0:0.0	.	196	P08473	NEP_HUMAN	A	196	ENSP00000420389:G196A;ENSP00000418525:G196A;ENSP00000420101:G196A;ENSP00000419653:G196A;ENSP00000417079:G196A;ENSP00000353679:G196A	ENSP00000353679:G196A	G	+	2	0	MME	156317402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.117000	0.77129	2.941000	0.99782	0.655000	0.94253	GGG		0.299	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		15	87	0	0	0	1	0	15	87				
HBM	3042	broad.mit.edu	37	16	216068	216068	+	Silent	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:216068C>T	ENST00000356815.3	+	1	92	c.72C>T	c.(70-72)ttC>ttT	p.F24F	HBM_ENST00000472539.1_Intron	NM_001003938.3	NP_001003938.1	Q6B0K9	HBM_HUMAN	hemoglobin, mu	24						extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				AGGCGCAATTCGGGGCGGAGC	0.701																																						ENST00000356815.3																			0											c.(70-72)ttC>ttT		hemoglobin, mu																																				SO:0001819	synonymous_variant	3042					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:216068C>T	BC035682	CCDS32347.1	16p13.3	2014-05-19	2006-05-12	2006-05-12	ENSG00000206177	ENSG00000206177			4826	protein-coding gene	gene with protein product		609639	"""hemoglobin, alpha pseudogene 2"""	HBAP2		2649166, 2825132, 15855277	Standard	NM_001003938		Approved	HBK	uc002cfu.1	Q6B0K9	OTTHUMG00000059926	ENST00000356815.3:c.72C>T	16.37:g.216068C>T						HBM_ENST00000472539.1_Intron	p.F24F	NM_001003938.3	NP_001003938.1	Q6B0K9	HBM_HUMAN			1	92	+		all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	24						Silent	SNP	ENST00000356815.3	37	c.72C>T	CCDS32347.1																																																																																				0.701	HBM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133201.1	NM_001003938		9	13	0	0	0	1	0	9	13				
PPY	5539	broad.mit.edu	37	17	42019013	42019013	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:42019013C>T	ENST00000591228.1	-	2	97	c.10G>A	c.(10-12)Gca>Aca	p.A4T	PPY_ENST00000225992.3_Missense_Mutation_p.A4T|PPY_ENST00000587006.1_Missense_Mutation_p.A4T			P01298	PAHO_HUMAN	pancreatic polypeptide	4					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CAGAGGCGTGCGGCAGCCATC	0.657																																						ENST00000591228.1																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(10-12)Gca>Aca		pancreatic polypeptide							35.0	29.0	31.0					17																	42019013		2202	4299	6501	SO:0001583	missense	5539				digestion|protein secretion	extracellular region	hormone activity	g.chr17:42019013C>T		CCDS11472.1	17q21.31	2013-02-28			ENSG00000108849	ENSG00000108849		"""Endogenous ligands"""	9327	protein-coding gene	gene with protein product	"""pancreatic polypeptide Y"", ""prepro-PP (prepropancreatic polypeptide)"""	167780				3753985	Standard	NM_002722		Approved	PNP	uc002iep.3	P01298		ENST00000591228.1:c.10G>A	17.37:g.42019013C>T	ENSP00000466009:p.Ala4Thr					PPY_ENST00000225992.3_Missense_Mutation_p.A4T|PPY_ENST00000587006.1_Missense_Mutation_p.A4T	p.A4T			P01298	PAHO_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	97	-		Breast(137;0.00314)|Prostate(33;0.0724)	4						Missense_Mutation	SNP	ENST00000591228.1	37	c.10G>A	CCDS11472.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398275	0.25205	.	.	ENSG00000108849	ENST00000225992	T	0.17370	2.28	4.47	-8.64	0.00874	.	1.037170	0.07611	N	0.925401	T	0.06917	0.0176	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.34775	-0.9815	9	0.23891	T	0.37	-0.1841	4.6632	0.12652	0.3127:0.393:0.0:0.2943	.	4	P01298	PAHO_HUMAN	T	4	ENSP00000225992:A4T	ENSP00000225992:A4T	A	-	1	0	PPY	39374539	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-3.669000	0.00398	-1.277000	0.02411	-1.456000	0.01031	GCA		0.657	PPY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457656.1	NM_002722		5	25	0	0	0	1	0	5	25				
HUWE1	10075	broad.mit.edu	37	X	53588762	53588762	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:53588762C>G	ENST00000342160.3	-	54	7919	c.7462G>C	c.(7462-7464)Gag>Cag	p.E2488Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2488Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2488	Asp-rich.				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						AGATCATCCTCCCGGTCAAAG	0.458																																						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.(7462-7464)Gag>Cag		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							129.0	97.0	108.0					X																	53588762		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:53588762C>G	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.7462G>C	X.37:g.53588762C>G	ENSP00000340648:p.Glu2488Gln					HUWE1_ENST00000262854.6_Missense_Mutation_p.E2488Q	p.E2488Q			Q7Z6Z7	HUWE1_HUMAN			54	7919	-			2488			Asp-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.7462G>C	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.64|13.64	2.297595|2.297595	0.40694|0.40694	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.39229|.	1.09;1.09|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.297076|.	0.31566|.	N|.	0.007426|.	T|T	0.49440|0.49440	0.1557|0.1557	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B|.	0.29301|.	0.155;0.241|.	B;B|.	0.28139|.	0.064;0.086|.	T|T	0.46428|0.46428	-0.9192|-0.9192	10|5	0.54805|.	T|.	0.06|.	.|.	16.8602|16.8602	0.86016|0.86016	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2488;2488|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	Q|A	2488|1521	ENSP00000340648:E2488Q;ENSP00000262854:E2488Q|.	ENSP00000262854:E2488Q|.	E|G	-|-	1|2	0|0	HUWE1|HUWE1	53605487|53605487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.127000|7.127000	0.77210|0.77210	2.242000|2.242000	0.73789|0.73789	0.506000|0.506000	0.49869|0.49869	GAG|GGA		0.458	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		5	81	0	0	0	1	0	5	81				
WNK1	65125	broad.mit.edu	37	12	939275	939275	+	Silent	SNP	T	T	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:939275T>C	ENST00000315939.6	+	4	1903	c.1260T>C	c.(1258-1260)taT>taC	p.Y420Y	WNK1_ENST00000535572.1_Silent_p.Y420Y|WNK1_ENST00000530271.2_Silent_p.Y420Y|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000537687.1_Silent_p.Y420Y	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	420	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CATCTGAATATCCTTACTCGG	0.453																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(1258-1260)taT>taC		WNK lysine deficient protein kinase 1							230.0	193.0	206.0					12																	939275		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:939275T>C	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1260T>C	12.37:g.939275T>C						WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000535572.1_Silent_p.Y420Y|WNK1_ENST00000530271.2_Silent_p.Y420Y|WNK1_ENST00000315939.6_Silent_p.Y420Y	p.Y420Y	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		4	1903	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		420			Protein kinase.		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.1260T>C	CCDS8506.1																																																																																				0.453	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		5	109	0	0	0	1	0	5	109				
BAZ2A	11176	broad.mit.edu	37	12	56993130	56993130	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:56993130C>T	ENST00000551812.1	-	27	5384	c.5191G>A	c.(5191-5193)Gaa>Aaa	p.E1731K	BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Missense_Mutation_p.E1699K|BAZ2A_ENST00000549884.1_Missense_Mutation_p.E1729K|BAZ2A_ENST00000379441.3_Missense_Mutation_p.E1701K	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1731					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGAGTGAATTCTCCCTCCACC	0.502																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(5095-5097)Gaa>Aaa		bromodomain adjacent to zinc finger domain, 2A							29.0	28.0	28.0					12																	56993130		1934	4138	6072	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56993130C>T	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.5191G>A	12.37:g.56993130C>T	ENSP00000446880:p.Glu1731Lys					BAZ2A_ENST00000551812.1_Missense_Mutation_p.E1731K|BAZ2A_ENST00000549884.1_Missense_Mutation_p.E1729K|BAZ2A_ENST00000379441.3_Missense_Mutation_p.E1701K	p.E1699K			Q9UIF9	BAZ2A_HUMAN			28	5294	-			1731					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.5095G>A	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071955	0.36566	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.69806	-0.2;-0.2;-0.21;-0.43;-0.21	5.45	5.45	0.79879	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.464864	0.22682	N	0.056933	T	0.46814	0.1412	N	0.14661	0.345	0.33492	D	0.588789	B;B;B;B	0.30361	0.277;0.012;0.001;0.034	B;B;B;B	0.25506	0.061;0.014;0.004;0.022	T	0.53315	-0.8456	10	0.15066	T	0.55	-8.7929	14.4446	0.67340	0.1481:0.8519:0.0:0.0	.	1729;1727;1731;1704	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	K	1701;1699;1731;663;1729	ENSP00000368754:E1701K;ENSP00000179765:E1699K;ENSP00000446880:E1731K;ENSP00000448760:E663K;ENSP00000447941:E1729K	ENSP00000179765:E1699K	E	-	1	0	BAZ2A	55279397	0.828000	0.29307	1.000000	0.80357	0.972000	0.66771	2.944000	0.49034	2.941000	0.99782	0.655000	0.94253	GAA		0.502	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		5	33	0	0	0	1	0	5	33				
SEL1L2	80343	broad.mit.edu	37	20	13912405	13912405	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr20:13912405C>T	ENST00000284951.5	-	3	201	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	SEL1L2_ENST00000378072.5_Missense_Mutation_p.E43K|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	43						integral component of membrane (GO:0016021)		p.E43K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TGTTTGATTTCGTTCACTGAT	0.289																																						ENST00000284951.5																			1	Substitution - Missense(1)	p.E43K(1)	skin(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(127-129)Gaa>Aaa		sel-1 suppressor of lin-12-like 2 (C. elegans)							81.0	76.0	78.0					20																	13912405		1804	4055	5859	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13912405C>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.127G>A	20.37:g.13912405C>T	ENSP00000284951:p.Glu43Lys					SEL1L2_ENST00000378072.5_Missense_Mutation_p.E43K|SEL1L2_ENST00000486903.1_5'UTR	p.E43K			Q5TEA6	SE1L2_HUMAN			3	201	-			43					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.127G>A		.	.	.	.	.	.	.	.	.	.	C	0.011	-1.701428	0.00725	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.23754	1.89;2.22	5.34	-2.2	0.06994	.	1.051140	0.07462	N	0.900849	T	0.09555	0.0235	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.34551	-0.9824	10	0.06099	T	0.92	-1.89	5.6615	0.17672	0.0:0.3878:0.1372:0.475	.	43;43	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	K	43	ENSP00000367312:E43K;ENSP00000284951:E43K	ENSP00000284951:E43K	E	-	1	0	SEL1L2	13860405	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.242000	0.08928	-0.592000	0.05851	-1.779000	0.00650	GAA		0.289	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		5	140	0	0	0	1	0	5	140				
COL25A1	84570	broad.mit.edu	37	4	109861734	109861734	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr4:109861734G>A	ENST00000399132.1	-	10	1163	c.633C>T	c.(631-633)gaC>gaT	p.D211D	COL25A1_ENST00000399127.1_Silent_p.D207D|COL25A1_ENST00000399126.1_Silent_p.D211D	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTCCCTGTGTCCCCAGGTG	0.572																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(631-633)gaC>gaT		collagen, type XXV, alpha 1							83.0	83.0	83.0					4																	109861734		1871	4108	5979	SO:0001819	synonymous_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109861734G>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.633C>T	4.37:g.109861734G>A						COL25A1_ENST00000399126.1_Silent_p.D211D|COL25A1_ENST00000399127.1_Silent_p.D207D	p.D211D	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	10	1163	-		Hepatocellular(203;0.217)	211			Collagen-like 2.			Silent	SNP	ENST00000399132.1	37	c.633C>T	CCDS43258.1																																																																																				0.572	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		11	96	0	0	0	1	0	11	96				
DAB1	1600	broad.mit.edu	37	1	57480832	57480832	+	Missense_Mutation	SNP	C	C	T	rs374160257		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:57480832C>T	ENST00000371231.1	-	13	1301	c.1267G>A	c.(1267-1269)Gtc>Atc	p.V423I	DAB1_ENST00000371236.2_Missense_Mutation_p.V390I|DAB1_ENST00000439789.2_Missense_Mutation_p.V304I|DAB1_ENST00000414851.2_Missense_Mutation_p.V372I|DAB1_ENST00000371234.4_Missense_Mutation_p.V390I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.V388I			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	423					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTGCCTGGGACGGTGGCAAGG	0.587																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(1168-1170)Gtc>Atc		Dab, reelin signal transducer, homolog 1 (Drosophila)		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	77.0	70.0	72.0		1168	-2.0	0.9	1		72	1,8599		0,1,4299	no	missense	DAB1	NM_021080.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	390/556	57480832	2,13004	2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57480832C>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1267G>A	1.37:g.57480832C>T	ENSP00000360275:p.Val423Ile					DAB1_ENST00000414851.2_Missense_Mutation_p.V372I|DAB1_ENST00000439789.2_Missense_Mutation_p.V304I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.V423I|DAB1_ENST00000371234.4_Missense_Mutation_p.V390I|DAB1_ENST00000420954.2_Missense_Mutation_p.V388I	p.V390I			O75553	DAB1_HUMAN			12	1431	-			423					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1168G>A		.	.	.	.	.	.	.	.	.	.	C	10.37	1.332696	0.24167	2.27E-4	1.16E-4	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.47869	0.85;0.85;0.84;0.83;1.83;0.85	5.54	-2.01	0.07410	.	0.430200	0.24691	N	0.036386	T	0.33904	0.0879	L	0.55481	1.735	0.29268	N	0.870877	B;B;B;B;B	0.12013	0.002;0.001;0.005;0.001;0.005	B;B;B;B;B	0.09377	0.001;0.001;0.004;0.0;0.002	T	0.23119	-1.0197	10	0.22109	T	0.4	-3.6893	7.5918	0.28025	0.0:0.521:0.1034:0.3755	.	372;423;390;304;388	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	I	390;390;390;388;372;304;423	ENSP00000360280:V390I;ENSP00000360278:V390I;ENSP00000395296:V388I;ENSP00000387581:V372I;ENSP00000409328:V304I;ENSP00000360275:V423I	ENSP00000360275:V423I	V	-	1	0	DAB1	57253420	0.020000	0.18652	0.857000	0.33713	0.971000	0.66376	0.336000	0.19823	-0.031000	0.13781	-0.142000	0.14014	GTC		0.587	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		13	57	0	0	0	1	0	13	57				
CHML	1122	broad.mit.edu	37	1	241797719	241797719	+	Silent	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:241797719C>T	ENST00000366553.1	-	1	1513	c.1350G>A	c.(1348-1350)caG>caA	p.Q450Q	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	450					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCTGCTTATACTGCACATTTG	0.368																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1348-1350)caG>caA		choroideremia-like (Rab escort protein 2)							116.0	116.0	116.0					1																	241797719		2202	4299	6501	SO:0001819	synonymous_variant	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797719C>T	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1350G>A	1.37:g.241797719C>T						OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	p.Q450Q	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1513	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	450					B2RAB9|Q17RE0|Q9H1Y4	Silent	SNP	ENST00000366553.1	37	c.1350G>A	CCDS31073.1																																																																																				0.368	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		4	163	0	0	0	1	0	4	163				
POLK	51426	broad.mit.edu	37	5	74892236	74892236	+	Nonsense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:74892236C>G	ENST00000241436.4	+	13	1890	c.1718C>G	c.(1717-1719)tCa>tGa	p.S573*	POLK_ENST00000352007.5_Nonsense_Mutation_p.S375*|POLK_ENST00000504026.1_Intron|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Nonsense_Mutation_p.S483*|POLK_ENST00000508526.1_Nonsense_Mutation_p.S375*	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	573					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAAAAACGATCAGAAAGGAAA	0.343								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1717-1719)tCa>tGa	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							46.0	49.0	48.0					5																	74892236		2196	4297	6493	SO:0001587	stop_gained	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892236C>G	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1718C>G	5.37:g.74892236C>G	ENSP00000241436:p.Ser573*					POLK_ENST00000508526.1_Nonsense_Mutation_p.S375*|POLK_ENST00000380481.3_Nonsense_Mutation_p.S483*|POLK_ENST00000352007.5_Nonsense_Mutation_p.S375*|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron	p.S573*	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	1890	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	573					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Nonsense_Mutation	SNP	ENST00000241436.4	37	c.1718C>G	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	C	36	5.927805	0.97110	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	.	.	.	5.47	2.64	0.31445	.	0.581612	0.18274	N	0.146227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-2.0228	9.6698	0.40006	0.0:0.7684:0.0:0.2316	.	.	.	.	X	573;375;375;483	.	ENSP00000241436:S573X	S	+	2	0	POLK	74927992	0.995000	0.38212	0.997000	0.53966	0.988000	0.76386	1.913000	0.39956	0.238000	0.21222	-0.140000	0.14226	TCA		0.343	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		4	58	0	0	0	1	0	4	58				
SMARCD3	6604	broad.mit.edu	37	7	150939642	150939642	+	Silent	SNP	C	C	T	rs200087546		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:150939642C>T	ENST00000262188.8	-	5	914	c.504G>A	c.(502-504)gcG>gcA	p.A168A	SMARCD3_ENST00000356800.2_Silent_p.A155A|SMARCD3_ENST00000477169.1_5'UTR|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000392811.2_Silent_p.A155A	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	168					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A155A(3)|p.A168A(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCAGGCTTCGCAGGGTTAA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19639	0.0		0.0	False		,,,				2504	0.001					ENST00000392811.2																			4	Substitution - coding silent(4)	p.A155A(3)|p.A168A(1)	large_intestine(2)|lung(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15						c.(463-465)gcG>gcA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3							111.0	119.0	116.0					7																	150939642		2203	4300	6503	SO:0001819	synonymous_variant	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150939642C>T	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.504G>A	7.37:g.150939642C>T						SMARCD3_ENST00000262188.8_Silent_p.A168A|SMARCD3_ENST00000356800.2_Silent_p.A155A|SMARCD3_ENST00000477169.1_5'UTR	p.A155A	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	939	-			168					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Silent	SNP	ENST00000262188.8	37	c.465G>A	CCDS34780.1																																																																																				0.577	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		65	132	0	0	0	1	0	65	132				
LACC1	144811	broad.mit.edu	37	13	44455407	44455407	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr13:44455407G>A	ENST00000441843.1	+	2	771	c.286G>A	c.(286-288)Gat>Aat	p.D96N	CCDC122_ENST00000476570.2_5'Flank|LACC1_ENST00000325686.6_Missense_Mutation_p.D96N|CCDC122_ENST00000444614.3_5'Flank	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	96																	ACAGAAAATTGATGAAAAAAA	0.353																																						ENST00000441843.1																			0											c.(286-288)Gat>Aat		laccase (multicopper oxidoreductase) domain containing 1							55.0	56.0	56.0					13																	44455407		2203	4300	6503	SO:0001583	missense	144811							g.chr13:44455407G>A	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.286G>A	13.37:g.44455407G>A	ENSP00000391747:p.Asp96Asn					LACC1_ENST00000325686.6_Missense_Mutation_p.D96N	p.D96N	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN			2	771	+			96					A2A3Z6|Q8N8X5	Missense_Mutation	SNP	ENST00000441843.1	37	c.286G>A	CCDS9391.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735771	0.89482	.	.	ENSG00000179630	ENST00000441843;ENST00000425906;ENST00000325686	T;T	0.61392	0.11;0.11	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.78130	0.4235	M	0.77103	2.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.79593	-0.1739	10	0.87932	D	0	-29.0303	19.1131	0.93326	0.0:0.0:1.0:0.0	.	96	Q8IV20	LACC1_HUMAN	N	96	ENSP00000391747:D96N;ENSP00000317619:D96N	ENSP00000317619:D96N	D	+	1	0	LACC1	43353407	1.000000	0.71417	0.997000	0.53966	0.805000	0.45488	7.185000	0.77714	2.832000	0.97577	0.655000	0.94253	GAT		0.353	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		4	68	0	0	0	1	0	4	68				
DNAH7	56171	broad.mit.edu	37	2	196877574	196877574	+	Missense_Mutation	SNP	A	A	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:196877574A>T	ENST00000312428.6	-	10	1026	c.926T>A	c.(925-927)cTg>cAg	p.L309Q	DNAH7_ENST00000410072.1_Missense_Mutation_p.L309Q	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	309	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAACTTGACAGCTCTAATGC	0.299																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(925-927)cTg>cAg		dynein, axonemal, heavy chain 7							87.0	85.0	85.0					2																	196877574		1820	4079	5899	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196877574A>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.926T>A	2.37:g.196877574A>T	ENSP00000311273:p.Leu309Gln					DNAH7_ENST00000410072.1_Missense_Mutation_p.L309Q	p.L309Q	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			10	1026	-			309			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.926T>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.864754	0.71949	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.26373	1.74;2.49	5.43	5.43	0.79202	.	0.106941	0.36703	N	0.002450	T	0.50735	0.1633	M	0.83603	2.65	0.44136	D	0.996929	D	0.69078	0.997	P	0.62649	0.905	T	0.56625	-0.7948	10	0.59425	D	0.04	.	13.0054	0.58701	1.0:0.0:0.0:0.0	.	309	Q8WXX0	DYH7_HUMAN	Q	309	ENSP00000311273:L309Q;ENSP00000386260:L309Q	ENSP00000311273:L309Q	L	-	2	0	DNAH7	196585819	1.000000	0.71417	0.990000	0.47175	0.948000	0.59901	6.222000	0.72249	2.060000	0.61445	0.482000	0.46254	CTG		0.299	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	90	0	0	0	1	0	4	90				
HBD	3045	broad.mit.edu	37	11	5255647	5255647	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:5255647G>C	ENST00000380299.3	-	1	231	c.17C>G	c.(16-18)cCt>cGt	p.P6R	HBD_ENST00000292901.3_Missense_Mutation_p.P6R	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	6					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCTCCTCAGGAGTCAGATG	0.502																																						ENST00000380299.3																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16						c.(16-18)cCt>cGt		hemoglobin, delta							181.0	145.0	157.0					11																	5255647		2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5255647G>C	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.17C>G	11.37:g.5255647G>C	ENSP00000369654:p.Pro6Arg					HBD_ENST00000292901.3_Missense_Mutation_p.P6R	p.P6R	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	231	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	6					Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.17C>G	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	G	9.908	1.208814	0.22205	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000417377;ENST00000429817	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	4.61	-9.22	0.00675	Globin-like (1);Globin, structural domain (1);	0.633137	0.16852	N	0.196898	T	0.77883	0.4197	L	0.43152	1.355	0.09310	N	1	B	0.20988	0.05	B	0.29598	0.104	T	0.61662	-0.7017	10	0.62326	D	0.03	13.4473	7.6639	0.28419	0.0528:0.4336:0.1433:0.3704	.	6	P02042	HBD_HUMAN	R	6	ENSP00000292901:P6R;ENSP00000369654:P6R;ENSP00000414741:P6R;ENSP00000393810:P6R	ENSP00000292901:P6R	P	-	2	0	HBD	5212223	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-2.107000	0.01337	-4.799000	0.00031	-0.226000	0.12346	CCT		0.502	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		18	58	0	0	0	1	0	18	58				
MTMR3	8897	broad.mit.edu	37	22	30405007	30405007	+	Splice_Site	SNP	A	A	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr22:30405007A>G	ENST00000401950.2	+	12	1352	c.1010A>G	c.(1009-1011)gAg>gGg	p.E337G	MTMR3_ENST00000351488.3_Splice_Site_p.E337G|MTMR3_ENST00000406629.1_Splice_Site_p.E337G|MTMR3_ENST00000323630.5_Splice_Site_p.E201G|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Splice_Site_p.E337G	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	337	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTCTCTCCAGAGTATTACCCA	0.418																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.e12-1		myotubularin related protein 3							152.0	142.0	145.0					22																	30405007		2203	4300	6503	SO:0001630	splice_region_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30405007A>G	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1010-1A>G	22.37:g.30405007A>G						MTMR3_ENST00000323630.5_Splice_Site_p.E201_splice|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Splice_Site_p.E337_splice|MTMR3_ENST00000401950.2_Splice_Site_p.E337_splice|MTMR3_ENST00000351488.3_Splice_Site_p.E337_splice	p.E337_splice	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		12	1338	+			337			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Splice_Site	SNP	ENST00000401950.2	37	c.1009_splice	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	32	5.179543	0.94846	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	5.84	5.84	0.93424	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.098661	0.64402	N	0.000002	D	0.94215	0.8143	M	0.64997	1.995	0.80722	D	1	D;P;D	0.89917	1.0;0.616;1.0	D;P;D	0.97110	1.0;0.542;1.0	D	0.93811	0.7110	9	.	.	.	.	15.3919	0.74751	1.0:0.0:0.0:0.0	.	337;337;337	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	G	337;337;201;337;337	ENSP00000384651:E337G;ENSP00000331649:E337G;ENSP00000318070:E201G;ENSP00000307271:E337G;ENSP00000384077:E337G	.	E	+	2	0	MTMR3	28735007	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.900000	0.92551	2.232000	0.73038	0.533000	0.62120	GAG		0.418	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090	Missense_Mutation	16	83	0	0	0	1	0	16	83				
GPATCH8	23131	broad.mit.edu	37	17	42477204	42477204	+	Silent	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:42477204C>T	ENST00000591680.1	-	8	2271	c.2241G>A	c.(2239-2241)agG>agA	p.R747R	GPATCH8_ENST00000434000.1_Silent_p.R669R	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	747	Poly-Arg.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GAGCTCTCCGCCTTCTTCTTG	0.567																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2005-2007)agG>agA		G patch domain containing 8							71.0	70.0	70.0					17																	42477204		2203	4300	6503	SO:0001819	synonymous_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42477204C>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2241G>A	17.37:g.42477204C>T						GPATCH8_ENST00000591680.1_Silent_p.R747R	p.R669R			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2289	-		Prostate(33;0.0181)	747			Lys-rich.		B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.2007G>A	CCDS32666.1																																																																																				0.567	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		10	112	0	0	0	1	0	10	112				
PRKAB2	5565	broad.mit.edu	37	1	146639425	146639425	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:146639425G>A	ENST00000254101.3	-	3	382	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	PRKAB2_ENST00000425272.2_Intron	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	82					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	TCAGACCAGCGGATAACAGTG	0.517																																						ENST00000254101.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(244-246)Cgc>Tgc		protein kinase, AMP-activated, beta 2 non-catalytic subunit	Adenosine monophosphate(DB00131)						205.0	210.0	208.0					1																	146639425		2203	4300	6503	SO:0001583	missense	5565				carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm		g.chr1:146639425G>A	BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.244C>T	1.37:g.146639425G>A	ENSP00000254101:p.Arg82Cys					PRKAB2_ENST00000425272.2_Intron	p.R82C	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN			3	382	-	all_hematologic(923;0.0487)		82					A8K9V5|B4DH06|Q5VXY0	Missense_Mutation	SNP	ENST00000254101.3	37	c.244C>T	CCDS925.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122667	0.94429	.	.	ENSG00000131791	ENST00000254101	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.75989	0.3925	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	P	0.62184	0.899	T	0.79405	-0.1817	9	0.87932	D	0	.	17.4083	0.87479	0.0:0.0:1.0:0.0	.	82	O43741	AAKB2_HUMAN	C	82	.	ENSP00000254101:R82C	R	-	1	0	PRKAB2	145106049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.709000	0.92574	0.655000	0.94253	CGC		0.517	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	NM_005399		48	201	0	0	0	1	0	48	201				
ADCY2	108	broad.mit.edu	37	5	7709343	7709343	+	Missense_Mutation	SNP	A	A	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:7709343A>G	ENST00000338316.4	+	10	1510	c.1421A>G	c.(1420-1422)cAg>cGg	p.Q474R	ADCY2_ENST00000537121.1_Missense_Mutation_p.Q294R|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	474					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGGAGCCCCCAGCATCTCTTC	0.582																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1420-1422)cAg>cGg		adenylate cyclase 2 (brain)							66.0	62.0	64.0					5																	7709343		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7709343A>G	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1421A>G	5.37:g.7709343A>G	ENSP00000342952:p.Gln474Arg					ADCY2_ENST00000537121.1_Missense_Mutation_p.Q294R|RP11-711G10.1_ENST00000514105.2_RNA	p.Q474R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			10	1510	+			474					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1421A>G	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	a	13.39	2.222554	0.39300	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.81247	-0.99;-1.47	4.95	4.95	0.65309	.	0.139075	0.48767	D	0.000175	T	0.69178	0.3082	N	0.22421	0.69	0.34547	D	0.710877	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.70601	-0.4827	10	0.27785	T	0.31	.	14.6334	0.68673	1.0:0.0:0.0:0.0	.	294;474	B7Z2C1;Q08462	.;ADCY2_HUMAN	R	474;325;294	ENSP00000342952:Q474R;ENSP00000444803:Q294R	ENSP00000342952:Q474R	Q	+	2	0	ADCY2	7762343	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.366000	0.59492	1.853000	0.53794	0.456000	0.33151	CAG		0.582	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		5	68	0	0	0	1	0	5	68				
PRMT5	10419	broad.mit.edu	37	14	23393710	23393710	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr14:23393710C>G	ENST00000324366.8	-	10	1277	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.E181Q|PRMT5_ENST00000553641.1_5'Flank|PRMT5_ENST00000397441.2_Missense_Mutation_p.E335Q|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.E291Q|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.E308Q|PRMT5_ENST00000538452.1_Missense_Mutation_p.E246Q	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	352	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TCCTTCTCCTCTTCTGGTACT	0.493																																						ENST00000324366.8																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(1054-1056)Gag>Cag		protein arginine methyltransferase 5							167.0	161.0	163.0					14																	23393710		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23393710C>G	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1054G>C	14.37:g.23393710C>G	ENSP00000319169:p.Glu352Gln					PRMT5_ENST00000216350.8_Missense_Mutation_p.E291Q|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.E181Q|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.E246Q|PRMT5_ENST00000553897.1_Missense_Mutation_p.E308Q|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.E335Q	p.E352Q	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	10	1277	-	all_cancers(95;2.76e-05)		352					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.1054G>C	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960965	0.53400	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000553502;ENST00000555530;ENST00000556043	.	.	.	5.36	4.48	0.54585	.	0.089324	0.85682	D	0.000000	T	0.71986	0.3405	M	0.79475	2.455	0.58432	D	0.999998	P;P;P;P;D	0.54397	0.925;0.814;0.943;0.867;0.966	P;P;P;B;P	0.55965	0.755;0.602;0.788;0.434;0.767	T	0.70813	-0.4770	9	0.19590	T	0.45	-8.0674	13.1678	0.59581	0.0:0.9224:0.0:0.0776	.	308;291;181;352;335	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	Q	352;335;181;291;246;308;95;247;104	.	ENSP00000216350:E291Q	E	-	1	0	PRMT5	22463550	0.997000	0.39634	0.961000	0.40146	0.996000	0.88848	3.677000	0.54619	1.508000	0.48769	0.561000	0.74099	GAG		0.493	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			11	112	0	0	0	1	0	11	112				
CPTP	80772	broad.mit.edu	37	1	1262674	1262674	+	Missense_Mutation	SNP	C	C	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:1262674C>A	ENST00000343938.4	+	3	587	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	CPSF3L_ENST00000411962.1_5'Flank|CPSF3L_ENST00000545578.1_5'Flank|CPSF3L_ENST00000421495.2_5'Flank|CPSF3L_ENST00000435064.1_5'Flank|GLTPD1_ENST00000464957.1_3'UTR|CPSF3L_ENST00000419704.1_5'Flank|CPSF3L_ENST00000450926.2_5'Flank|CPSF3L_ENST00000540437.1_5'Flank	NM_001029885.1	NP_001025056.1	Q5TA50	CPTP_HUMAN		59					ceramide 1-phosphate transport (GO:1902389)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide 1-phosphate binding (GO:1902387)|ceramide 1-phosphate transporter activity (GO:1902388)|glycolipid binding (GO:0051861)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GACGTGGTCTCCAAGCTGCGG	0.662																																						ENST00000343938.4																			0				lung(1)	1						c.(175-177)tCc>tAc		glycolipid transfer protein domain containing 1							62.0	61.0	61.0					1																	1262674		2200	4300	6500	SO:0001583	missense	80772					cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr1:1262674C>A																												ENST00000343938.4:c.176C>A	1.37:g.1262674C>A	ENSP00000343890:p.Ser59Tyr					GLTPD1_ENST00000464957.1_3'UTR	p.S59Y	NM_001029885.1	NP_001025056.1	Q5TA50	GLTD1_HUMAN		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	3	587	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	59					Q4G0E6|Q7L5A4	Missense_Mutation	SNP	ENST00000343938.4	37	c.176C>A	CCDS30555.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.629078	0.28978	.	.	ENSG00000224051	ENST00000343938	.	.	.	5.02	2.12	0.27331	Glycolipid transfer protein domain (3);	0.652848	0.14684	U	0.304596	T	0.51415	0.1673	M	0.73217	2.22	0.09310	N	1	P	0.35155	0.487	B	0.41619	0.361	T	0.48479	-0.9032	9	0.87932	D	0	-0.7312	10.0158	0.42014	0.0:0.7779:0.0:0.2221	.	59	Q5TA50	GLTD1_HUMAN	Y	59	.	ENSP00000343890:S59Y	S	+	2	0	GLTPD1	1252537	0.001000	0.12720	0.000000	0.03702	0.057000	0.15508	1.354000	0.34056	0.162000	0.19483	-0.258000	0.10820	TCC		0.662	GLTPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008742.1			15	52	1	0	1.5739e-10	1	1.72779e-10	15	52				
MSH3	4437	broad.mit.edu	37	5	80057395	80057395	+	Silent	SNP	G	G	A	rs61753791	byFrequency	TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:80057395G>A	ENST00000265081.6	+	13	1874	c.1794G>A	c.(1792-1794)tcG>tcA	p.S598S	MSH3_ENST00000512258.1_3'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	598					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATGCTGTATCGGAAGTTCTCC	0.378								Mismatch excision repair (MMR)					g|||	3	0.000599042	0.0008	0.0	5008	,	,		18386	0.0		0.002	False		,,,				2504	0.0				Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1792-1794)tcG>tcA	Mismatch excision repair (MMR)	mutS homolog 3		G		1,4405	2.1+/-5.4	0,1,2202	127.0	126.0	126.0		1794	-1.5	1.0	5	dbSNP_129	126	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous	MSH3	NM_002439.3		0,18,6485	AA,AG,GG		0.1977,0.0227,0.1384		598/1138	80057395	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80057395G>A	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1794G>A	5.37:g.80057395G>A						MSH3_ENST00000512258.1_3'UTR	p.S598S	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	13	1874	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	598					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	c.1794G>A	CCDS34195.1																																																																																				0.378	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		4	108	0	0	0	1	0	4	108				
BAG5	9529	broad.mit.edu	37	14	104026872	104026872	+	Missense_Mutation	SNP	A	A	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr14:104026872A>C	ENST00000445922.2	-	2	876	c.630T>G	c.(628-630)aaT>aaG	p.N210K	BAG5_ENST00000299204.4_Missense_Mutation_p.N210K|APOPT1_ENST00000247618.4_5'Flank|APOPT1_ENST00000409074.2_5'Flank|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000556253.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000337322.4_Missense_Mutation_p.N251K	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	210	BAG 3. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TGCAGGTCTCATTGTTGTTCA	0.527																																					NSCLC(171;1832 2055 18950 31566 41632)	ENST00000445922.2																			0				endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24						c.(628-630)aaT>aaG		BCL2-associated athanogene 5							145.0	134.0	138.0					14																	104026872		2203	4300	6503	SO:0001583	missense	9529				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	g.chr14:104026872A>C	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.630T>G	14.37:g.104026872A>C	ENSP00000391713:p.Asn210Lys					RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000337322.4_Missense_Mutation_p.N251K|BAG5_ENST00000299204.4_Missense_Mutation_p.N210K	p.N210K	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	Epithelial(46;0.144)		2	876	-		Melanoma(154;0.155)	210			BAG 3.		O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	c.630T>G	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	A	4.011	-0.000665	0.07819	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322;ENST00000557666	T;T;T;T	0.81078	-0.24;-0.24;-0.24;-1.45	5.76	-11.5	0.00074	BAG domain (3);	0.944612	0.08983	N	0.865477	T	0.59985	0.2234	N	0.19112	0.55	0.19945	N	0.999941	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.48031	-0.9070	10	0.44086	T	0.13	-7.5457	10.3593	0.43982	0.4009:0.2382:0.3609:0.0	.	210;251	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	K	210;210;251;210	ENSP00000299204:N210K;ENSP00000391713:N210K;ENSP00000338814:N251K;ENSP00000450497:N210K	ENSP00000299204:N210K	N	-	3	2	BAG5	103096625	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-0.620000	0.05565	-2.528000	0.00493	-0.274000	0.10170	AAT		0.527	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			36	94	0	0	0	1	0	36	94				
SLC5A4	6527	broad.mit.edu	37	22	32651253	32651253	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr22:32651253G>C	ENST00000266086.4	-	1	75	c.64C>G	c.(64-66)Cac>Gac	p.H22D	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	22					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTTCGGATGTGGTCAGACAAT	0.542											OREG0003502	type=REGULATORY REGION|Gene=SLC5A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000266086.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(64-66)Cac>Gac		solute carrier family 5 (glucose activated ion channel), member 4							321.0	267.0	285.0					22																	32651253		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32651253G>C	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.64C>G	22.37:g.32651253G>C	ENSP00000266086:p.His22Asp		OREG0003502	type=REGULATORY REGION|Gene=SLC5A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	834	RP1-90G24.10_ENST00000434942.1_RNA	p.H22D	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN			1	75	-			22					O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.64C>G	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	G	2.169	-0.390293	0.04932	.	.	ENSG00000100191	ENST00000266086	D	0.85088	-1.94	5.26	3.07	0.35406	.	0.908807	0.09616	N	0.778240	T	0.70666	0.3250	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51156	-0.8741	10	0.15499	T	0.54	.	11.8785	0.52560	0.0:0.0:0.6714:0.3286	.	22	Q9NY91	SC5A4_HUMAN	D	22	ENSP00000266086:H22D	ENSP00000266086:H22D	H	-	1	0	SLC5A4	30981253	0.931000	0.31567	0.000000	0.03702	0.001000	0.01503	1.429000	0.34903	0.530000	0.28619	0.650000	0.86243	CAC		0.542	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		44	183	0	0	0	1	0	44	183				
NKPD1	284353	broad.mit.edu	37	19	45655798	45655798	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr19:45655798C>T	ENST00000438936.2	-	3	1442	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M	NKPD1_ENST00000589776.1_Missense_Mutation_p.V411M|NKPD1_ENST00000317951.4_Missense_Mutation_p.V633M|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000429338.1_Missense_Mutation_p.V411M			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	411	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		AGCAGGCGCACGGTGATGGGC	0.697																																						ENST00000317951.4																			0				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8						c.(1897-1899)Gtg>Atg		NTPase, KAP family P-loop domain containing 1							11.0	12.0	12.0					19																	45655798		1976	4108	6084	SO:0001583	missense	284353							g.chr19:45655798C>T	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1231G>A	19.37:g.45655798C>T	ENSP00000401739:p.Val411Met					NKPD1_ENST00000438936.2_Missense_Mutation_p.V411M|NKPD1_ENST00000589776.1_Missense_Mutation_p.V411M|NKPD1_ENST00000429338.1_Missense_Mutation_p.V411M	p.V633M	NM_198478.3	NP_940880.3				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1896	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	ENST00000438936.2	37	c.1897G>A		.	.	.	.	.	.	.	.	.	.	C	14.87	2.663777	0.47572	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.32023	1.47;1.47;1.47	5.01	3.96	0.45880	KAP P-loop (1);	0.068831	0.56097	D	0.000025	T	0.46833	0.1413	L	0.50333	1.59	0.37160	D	0.902552	D	0.89917	1.0	D	0.75484	0.986	T	0.51371	-0.8714	10	0.39692	T	0.17	-22.9309	12.4981	0.55940	0.1683:0.8317:0.0:0.0	.	411	Q17RQ9	NKPD1_HUMAN	M	633;411;411	ENSP00000321976:V633M;ENSP00000401739:V411M;ENSP00000404706:V411M	ENSP00000321976:V633M	V	-	1	0	NKPD1	50347638	0.970000	0.33590	1.000000	0.80357	0.504000	0.33889	0.625000	0.24477	1.305000	0.44909	0.561000	0.74099	GTG		0.697	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		3	30	0	0	0	1	0	3	30				
KIAA1377	57562	broad.mit.edu	37	11	101833080	101833080	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:101833080G>C	ENST00000263468.8	+	6	1584	c.1314G>C	c.(1312-1314)gaG>gaC	p.E438D	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E239D	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	438										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAGACCAAGAGAAATATTCTG	0.378																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(1312-1314)gaG>gaC		KIAA1377							54.0	59.0	57.0					11																	101833080		2200	4297	6497	SO:0001583	missense	57562						protein binding	g.chr11:101833080G>C	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1314G>C	11.37:g.101833080G>C	ENSP00000263468:p.Glu438Asp					KIAA1377_ENST00000537689.1_Missense_Mutation_p.E239D	p.E438D	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	1584	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	438					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.1314G>C	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	7.582	0.668931	0.14776	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08896	3.04;3.04	5.05	2.15	0.27550	.	0.604283	0.16408	N	0.215705	T	0.08670	0.0215	L	0.59436	1.845	0.09310	N	1	B	0.32753	0.383	B	0.32724	0.151	T	0.22417	-1.0217	10	0.42905	T	0.14	-0.4885	5.3188	0.15870	0.2443:0.0:0.6029:0.1528	.	438	Q9P2H0	K1377_HUMAN	D	438;239	ENSP00000263468:E438D;ENSP00000443184:E239D	ENSP00000263468:E438D	E	+	3	2	KIAA1377	101338290	0.011000	0.17503	0.325000	0.25375	0.909000	0.53808	0.058000	0.14301	0.636000	0.30508	-0.137000	0.14449	GAG		0.378	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		5	82	0	0	0	1	0	5	82				
UBL7	84993	broad.mit.edu	37	15	74741683	74741683	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr15:74741683G>A	ENST00000567435.1	-	9	1189	c.726C>T	c.(724-726)tcC>tcT	p.S242S	UBL7_ENST00000361351.4_Silent_p.S242S|UBL7_ENST00000565335.1_Silent_p.S242S|UBL7_ENST00000395081.2_Silent_p.S242S|UBL7_ENST00000564488.1_Silent_p.S242S			Q96S82	UBL7_HUMAN	ubiquitin-like 7	242										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TAGAGGGTGTGGACCTGGTGT	0.597																																						ENST00000567435.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(724-726)tcC>tcT		ubiquitin-like 7 (bone marrow stromal cell-derived)							57.0	58.0	58.0					15																	74741683		2197	4296	6493	SO:0001819	synonymous_variant	84993						protein binding	g.chr15:74741683G>A	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.726C>T	15.37:g.74741683G>A						UBL7_ENST00000395081.2_Silent_p.S242S|UBL7_ENST00000361351.4_Silent_p.S242S|UBL7_ENST00000564488.1_Silent_p.S242S|UBL7_ENST00000565335.1_Silent_p.S242S	p.S242S			Q96S82	UBL7_HUMAN			9	1189	-			242					D3DW57|Q96I03	Silent	SNP	ENST00000567435.1	37	c.726C>T	CCDS10263.1																																																																																				0.597	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		5	27	0	0	0	1	0	5	27				
HYOU1	10525	broad.mit.edu	37	11	118917447	118917447	+	Nonsense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:118917447G>C	ENST00000404233.3	-	23	2787	c.2663C>G	c.(2662-2664)tCa>tGa	p.S888*	HYOU1_ENST00000529972.1_Nonsense_Mutation_p.S826*|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000525859.1_Nonsense_Mutation_p.S826*	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	888					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AATGTCTTTTGAGAGCAACAC	0.567																																						ENST00000404233.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33						c.(2662-2664)tCa>tGa		hypoxia up-regulated 1							101.0	101.0	101.0					11																	118917447		2200	4295	6495	SO:0001587	stop_gained	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118917447G>C	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2663C>G	11.37:g.118917447G>C	ENSP00000384144:p.Ser888*					HYOU1_ENST00000525859.1_Nonsense_Mutation_p.S826*|HYOU1_ENST00000529972.1_Nonsense_Mutation_p.S826*	p.S888*	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	23	2787	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	888					A8C1Z0|B7Z909|Q2I204|Q53H25	Nonsense_Mutation	SNP	ENST00000404233.3	37	c.2663C>G	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	G	41	8.907269	0.98998	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-11.4163	20.5596	0.99324	0.0:0.0:1.0:0.0	.	.	.	.	X	888;879;826;737;826;869	.	ENSP00000278752:S879X	S	-	2	0	HYOU1	118422657	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.281000	0.95811	2.868000	0.98415	0.555000	0.69702	TCA		0.567	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		5	133	0	0	0	1	0	5	133				
EGR2	1959	broad.mit.edu	37	10	64573000	64573000	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:64573000G>A	ENST00000242480.3	-	2	1723	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L	EGR2_ENST00000411732.1_Silent_p.L416L|EGR2_ENST00000439032.1_Silent_p.L466L|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	466					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGCAAGGGGCGAGCGGCCCTC	0.652																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(1396-1398)ctC>ctT		early growth response 2							78.0	83.0	81.0					10																	64573000		2203	4300	6503	SO:0001819	synonymous_variant	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573000G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.1398C>T	10.37:g.64573000G>A						EGR2_ENST00000439032.1_Silent_p.L466L|EGR2_ENST00000411732.1_Silent_p.L416L	p.L466L	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	1723	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		466					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	c.1398C>T	CCDS7267.1																																																																																				0.652	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		25	110	0	0	0	1	0	25	110				
ESF1	51575	broad.mit.edu	37	20	13747568	13747568	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr20:13747568C>A	ENST00000202816.1	-	8	1629	c.1522G>T	c.(1522-1524)Gaa>Taa	p.E508*		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CAAGTGATTTCCACCTTTCAC	0.338																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(1522-1524)Gaa>Taa		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							124.0	127.0	126.0					20																	13747568		2203	4300	6503	SO:0001587	stop_gained	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13747568C>A		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1522G>T	20.37:g.13747568C>A	ENSP00000202816:p.Glu508*						p.E508*	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			8	1629	-			508					Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Nonsense_Mutation	SNP	ENST00000202816.1	37	c.1522G>T	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	40	7.949050	0.98577	.	.	ENSG00000089048	ENST00000202816	.	.	.	5.67	5.67	0.87782	.	0.101283	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3	19.7755	0.96391	0.0:1.0:0.0:0.0	.	.	.	.	X	508	.	ENSP00000202816:E508X	E	-	1	0	ESF1	13695568	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.940000	0.70187	2.676000	0.91093	0.655000	0.94253	GAA		0.338	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		33	83	1	0	1.62565e-12	1	1.80872e-12	33	83				
MYO1G	64005	broad.mit.edu	37	7	45009308	45009308	+	Missense_Mutation	SNP	C	C	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:45009308C>A	ENST00000258787.7	-	11	1635	c.1499G>T	c.(1498-1500)cGc>cTc	p.R500L		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	500	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGGCACCTGGCGGCTGGTGTA	0.667																																						ENST00000258787.7																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(1498-1500)cGc>cTc		myosin IG							73.0	76.0	75.0					7																	45009308		2203	4296	6499	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45009308C>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1499G>T	7.37:g.45009308C>A	ENSP00000258787:p.Arg500Leu						p.R500L	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN			11	1635	-			500			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.1499G>T	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138119	0.77775	.	.	ENSG00000136286	ENST00000258787	D	0.87256	-2.23	5.07	3.24	0.37175	Myosin head, motor domain (2);	0.000000	0.41500	D	0.000874	D	0.91140	0.7210	M	0.73217	2.22	0.52099	D	0.999941	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.967	D	0.89875	0.4026	10	0.72032	D	0.01	.	8.4172	0.32678	0.1534:0.764:0.0:0.0825	.	500;500	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	L	500	ENSP00000258787:R500L	ENSP00000258787:R500L	R	-	2	0	MYO1G	44975833	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.707000	0.61852	0.634000	0.30469	0.561000	0.74099	CGC		0.667	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			20	121	1	0	8.10497e-08	1	8.70404e-08	20	121				
SEC14L1	6397	broad.mit.edu	37	17	75201375	75201375	+	Missense_Mutation	SNP	A	A	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:75201375A>C	ENST00000413679.2	+	11	1419	c.1116A>C	c.(1114-1116)gaA>gaC	p.E372D	SEC14L1_ENST00000431431.2_Missense_Mutation_p.E338D|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E372D|SEC14L1_ENST00000430767.4_Missense_Mutation_p.E372D|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E372D|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E338D|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E372D|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E372D	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	372	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CCATAAATGAAGAAGGGCTAA	0.403																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1114-1116)gaA>gaC		SEC14-like 1 (S. cerevisiae)							126.0	121.0	123.0					17																	75201375		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75201375A>C	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1116A>C	17.37:g.75201375A>C	ENSP00000394716:p.Glu372Asp					SEC14L1_ENST00000430767.4_Missense_Mutation_p.E372D|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E338D|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E372D|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E338D|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E372D|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E372D|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E372D	p.E372D	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			11	1419	+			372			CRAL-TRIO.		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.1116A>C	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.020881	0.75275	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.0	1.57	0.23409	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	M	0.88512	2.96	0.58432	D	0.999995	P;P	0.51057	0.927;0.941	P;P	0.55011	0.654;0.766	T	0.66893	-0.5808	10	0.87932	D	0	-30.9934	7.8487	0.29442	0.6828:0.0:0.3172:0.0	.	372;372	Q92503-2;Q92503	.;S14L1_HUMAN	D	372;372;372;372;372;338	ENSP00000376268:E372D;ENSP00000406030:E372D;ENSP00000390392:E372D;ENSP00000408169:E372D;ENSP00000394716:E372D;ENSP00000389838:E338D	ENSP00000376268:E372D	E	+	3	2	SEC14L1	72712970	1.000000	0.71417	0.876000	0.34364	0.994000	0.84299	1.525000	0.35953	0.040000	0.15660	0.533000	0.62120	GAA		0.403	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		11	74	0	0	0	1	0	11	74				
ARR3	407	broad.mit.edu	37	X	69502411	69502411	+	IGR	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:69502411C>T	ENST00000307959.8	+	0	1292				RAB41_ENST00000374473.2_Silent_p.F51F|RAB41_ENST00000276066.4_Silent_p.F50F	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TCAGCCGCTTCATGTACAACA	0.537																																						ENST00000374473.2																			0				breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						c.(151-153)ttC>ttT		RAB41, member RAS oncogene family							98.0	70.0	79.0					X																	69502411		2203	4300	6503	SO:0001628	intergenic_variant	347517				protein transport|small GTPase mediated signal transduction		GTP binding	g.chrX:69502411C>T		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69502411C>T						RAB41_ENST00000276066.4_Silent_p.F50F	p.F51F			Q5JT25	RAB41_HUMAN			2	199	+			51					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Silent	SNP	ENST00000307959.8	37	c.153C>T	CCDS14399.1																																																																																				0.537	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		14	66	0	0	0	1	0	14	66				
DNAH9	1770	broad.mit.edu	37	17	11845708	11845708	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:11845708C>T	ENST00000262442.4	+	67	12817	c.12749C>T	c.(12748-12750)cCt>cTt	p.P4250L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P4174L|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.P562L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4250					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGCGCACCCCTTACATTGTA	0.537																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(12748-12750)cCt>cTt		dynein, axonemal, heavy chain 9							139.0	122.0	128.0					17																	11845708		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11845708C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12749C>T	17.37:g.11845708C>T	ENSP00000262442:p.Pro4250Leu					DNAH9_ENST00000454412.2_Missense_Mutation_p.P4174L|DNAH9_ENST00000396001.2_Missense_Mutation_p.P562L	p.P4250L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	67	12817	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4250					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12749C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791855	0.70452	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.15952	2.38;2.38;2.38	4.86	4.86	0.63082	Dynein heavy chain (1);	0.106291	0.64402	D	0.000003	T	0.58452	0.2123	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74830	-0.3531	10	0.87932	D	0	.	18.1905	0.89805	0.0:1.0:0.0:0.0	.	4250	Q9NYC9	DYH9_HUMAN	L	4250;4174;2756;562	ENSP00000262442:P4250L;ENSP00000414874:P4174L;ENSP00000379323:P562L	ENSP00000262442:P4250L	P	+	2	0	DNAH9	11786433	1.000000	0.71417	0.997000	0.53966	0.188000	0.23474	7.562000	0.82300	2.517000	0.84864	0.462000	0.41574	CCT		0.537	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		19	80	0	0	0	1	0	19	80				
COL11A1	1301	broad.mit.edu	37	1	103428220	103428220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:103428220C>A	ENST00000370096.3	-	39	3325	c.3013G>T	c.(3013-3015)Gaa>Taa	p.E1005*	COL11A1_ENST00000358392.2_Nonsense_Mutation_p.E1017*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.E966*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.E889*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1005	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.E1005K(1)|p.E1017K(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTGCACCTTCTTTTCCTGCA	0.468																																						ENST00000358392.2																			2	Substitution - Missense(2)	p.E1005K(1)|p.E1017K(1)	lung(2)	NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3049-3051)Gaa>Taa		collagen, type XI, alpha 1							94.0	92.0	92.0					1																	103428220		2203	4300	6503	SO:0001587	stop_gained	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103428220C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3013G>T	1.37:g.103428220C>A	ENSP00000359114:p.Glu1005*					COL11A1_ENST00000370096.3_Nonsense_Mutation_p.E1005*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.E889*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.E966*	p.E1017*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	39	3366	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1005			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.3049G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	45	11.852663	0.99610	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.67	5.67	0.87782	.	0.112966	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7741	0.96385	0.0:1.0:0.0:0.0	.	.	.	.	X	1005;1017;966;225;889	.	ENSP00000302551:E966X	E	-	1	0	COL11A1	103200808	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.987000	0.70571	2.673000	0.90976	0.557000	0.71058	GAA		0.468	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		15	56	1	0	0.000308642	1	0.000316326	15	56				
COL22A1	169044	broad.mit.edu	37	8	139793188	139793188	+	Silent	SNP	G	G	A	rs373172764		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:139793188G>A	ENST00000303045.6	-	13	2078	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D	COL22A1_ENST00000435777.1_Silent_p.D544D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	544	Collagen-like 2.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTGCTGCCGTCTCTCCCAG	0.527										HNSCC(7;0.00092)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		18773	0.0		0.0	False		,,,				2504	0.0					ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1630-1632)gaC>gaT		collagen, type XXII, alpha 1		G		1,4405		0,1,2202	82.0	78.0	79.0		1632	-5.8	0.6	8		79	0,8600		0,0,4300	no	coding-synonymous	COL22A1	NM_152888.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		544/1627	139793188	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139793188G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1632C>T	8.37:g.139793188G>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.D544D	p.D544D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		13	2078	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		544			Collagen-like 2.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.1632C>T	CCDS6376.1																																																																																				0.527	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		33	74	0	0	0	1	0	33	74				
KIF3B	9371	broad.mit.edu	37	20	30898675	30898675	+	Silent	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr20:30898675C>G	ENST00000375712.3	+	2	1262	c.1095C>G	c.(1093-1095)ctC>ctG	p.L365L	KIF3B_ENST00000418717.2_Silent_p.L53L	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	365					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTGCTCGGCTCAAGGCCCAGC	0.557																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1093-1095)ctC>ctG		kinesin family member 3B							55.0	52.0	53.0					20																	30898675		2203	4300	6503	SO:0001819	synonymous_variant	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898675C>G	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1095C>G	20.37:g.30898675C>G						KIF3B_ENST00000418717.2_Silent_p.L53L	p.L365L	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1262	+			365					B2RMP4|B4DSR5|E1P5M5	Silent	SNP	ENST00000375712.3	37	c.1095C>G	CCDS13200.1																																																																																				0.557	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		5	53	0	0	0	1	0	5	53				
ATP6AP2	10159	broad.mit.edu	37	X	40456836	40456836	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:40456836C>T	ENST00000378438.4	+	5	612	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	ATP6AP2_ENST00000535539.1_Missense_Mutation_p.R120C|ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.R76C|ATP6AP2_ENST00000486558.1_3'UTR	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	152					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						AGTCACCTTGCGCCAGCTCCG	0.408																																						ENST00000378438.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(454-456)Cgc>Tgc		ATPase, H+ transporting, lysosomal accessory protein 2							97.0	88.0	91.0					X																	40456836		2203	4300	6503	SO:0001583	missense	10159				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity	g.chrX:40456836C>T	AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"""prorenin receptor"", ""renin receptor"""	300556	"""ATPase, H+ transporting, lysosomal interacting protein 2"""	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.454C>T	X.37:g.40456836C>T	ENSP00000367697:p.Arg152Cys					ATP6AP2_ENST00000544975.1_Missense_Mutation_p.R76C|ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.R120C|ATP6AP2_ENST00000486558.1_3'UTR	p.R152C	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN			5	612	+			152					B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	ENST00000378438.4	37	c.454C>T	CCDS14252.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750489	0.69533	.	.	ENSG00000182220	ENST00000535539;ENST00000378438;ENST00000436783;ENST00000544975	T;T;T;T	0.50813	1.41;1.38;0.73;1.4	5.15	2.26	0.28386	.	0.057504	0.64402	D	0.000001	T	0.55000	0.1893	M	0.63428	1.95	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.56216	0.791;0.794;0.644	T	0.50816	-0.8783	10	0.44086	T	0.13	-26.9236	10.2246	0.43218	0.2844:0.5922:0.1235:0.0	.	120;76;152	B7Z9I3;B7Z413;O75787	.;.;RENR_HUMAN	C	120;152;152;76	ENSP00000438415:R120C;ENSP00000367697:R152C;ENSP00000403969:R152C;ENSP00000440459:R76C	ENSP00000367697:R152C	R	+	1	0	ATP6AP2	40341780	1.000000	0.71417	0.053000	0.19242	0.906000	0.53458	3.593000	0.54001	0.096000	0.17463	0.513000	0.50165	CGC		0.408	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1	NM_005765		26	172	0	0	0	1	0	26	172				
SUSD3	203328	broad.mit.edu	37	9	95838220	95838220	+	Silent	SNP	C	C	T	rs369622588		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:95838220C>T	ENST00000375472.3	+	2	279	c.243C>T	c.(241-243)atC>atT	p.I81I	SUSD3_ENST00000375469.1_Silent_p.I68I	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	81	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AGGGGAGCATCGCTGAGTGGT	0.637																																						ENST00000375472.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						c.(241-243)atC>atT		sushi domain containing 3		C		1,4405		0,1,2202	90.0	76.0	81.0		243	-4.9	0.0	9		81	0,8600		0,0,4300	no	coding-synonymous	SUSD3	NM_145006.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		81/256	95838220	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	203328					integral to membrane		g.chr9:95838220C>T	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.243C>T	9.37:g.95838220C>T						SUSD3_ENST00000375469.1_Silent_p.I68I	p.I81I	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN			2	279	+			81			Sushi.		Q49AA6|Q6UXV7	Silent	SNP	ENST00000375472.3	37	c.243C>T	CCDS6701.1																																																																																				0.637	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006		8	98	0	0	0	1	0	8	98				
LRP12	29967	broad.mit.edu	37	8	105503260	105503260	+	Missense_Mutation	SNP	G	G	A	rs141755380		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:105503260G>A	ENST00000276654.5	-	7	2329	c.2221C>T	c.(2221-2223)Cgt>Tgt	p.R741C	LRP12_ENST00000424843.2_Missense_Mutation_p.R722C|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	741					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AATGTAAAACGTACCCAGCGT	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		22000	0.0		0.001	False		,,,				2504	0.0					ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2221-2223)Cgt>Tgt		low density lipoprotein receptor-related protein 12		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	112.0	97.0	102.0		2164,2221	5.5	0.7	8	dbSNP_134	102	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	LRP12	NM_001135703.2,NM_013437.4	180,180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	722/841,741/860	105503260	3,13003	2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503260G>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2221C>T	8.37:g.105503260G>A	ENSP00000276654:p.Arg741Cys					LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.R722C	p.R741C	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2329	-			741					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.2221C>T	CCDS6303.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.88	3.496267	0.64186	0.0	3.49E-4	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.85339	-1.97;-1.9	5.51	5.51	0.81932	.	0.102433	0.64402	D	0.000002	D	0.85991	0.5826	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.56916	0.809;0.764	D	0.87645	0.2524	10	0.72032	D	0.01	-26.9802	19.7828	0.96424	0.0:0.0:1.0:0.0	.	722;741	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	C	722;741;106	ENSP00000399148:R722C;ENSP00000276654:R741C	ENSP00000276654:R741C	R	-	1	0	LRP12	105572436	1.000000	0.71417	0.697000	0.30258	0.989000	0.77384	6.751000	0.74893	2.747000	0.94245	0.650000	0.86243	CGT		0.478	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		37	76	0	0	0	1	0	37	76				
NRD1	4898	broad.mit.edu	37	1	52281999	52281999	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:52281999G>C	ENST00000354831.7	-	13	1817	c.1628C>G	c.(1627-1629)tCt>tGt	p.S543C	NRD1_ENST00000352171.7_Missense_Mutation_p.S475C|NRD1_ENST00000544028.1_Missense_Mutation_p.S343C|NRD1_ENST00000539524.1_Missense_Mutation_p.S411C|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	474					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CCTAAGGAAAGAAAGAATGCT	0.299																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1627-1629)tCt>tGt		nardilysin (N-arginine dibasic convertase)							59.0	65.0	63.0					1																	52281999		2203	4296	6499	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52281999G>C	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1628C>G	1.37:g.52281999G>C	ENSP00000346890:p.Ser543Cys					NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.S343C|NRD1_ENST00000352171.7_Missense_Mutation_p.S475C|NRD1_ENST00000539524.1_Missense_Mutation_p.S411C	p.S543C	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			13	1817	-			474					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.1628C>G	CCDS559.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501638	0.85176	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	5.67	5.67	0.87782	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.995;0.995	T	0.20207	-1.0282	10	0.87932	D	0	-11.4724	19.7524	0.96273	0.0:0.0:1.0:0.0	.	475;474;543	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	C	475;543;411;475;343	ENSP00000262679:S475C;ENSP00000346890:S543C;ENSP00000444416:S411C;ENSP00000442262:S343C	ENSP00000262679:S475C	S	-	2	0	NRD1	52054587	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.143000	0.94623	2.836000	0.97738	0.655000	0.94253	TCT		0.299	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		8	64	0	0	0	1	0	8	64				
FCRL1	115350	broad.mit.edu	37	1	157767980	157767980	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:157767980G>A	ENST00000368176.3	-	8	1152	c.1085C>T	c.(1084-1086)cCa>cTa	p.P362L	FCRL1_ENST00000358292.3_Missense_Mutation_p.P323L|FCRL1_ENST00000491942.1_Missense_Mutation_p.P362L|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	362						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P323R(2)|p.P362R(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TAGCTGCCCTGGGGTAGGTGA	0.498																																					GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			4	Substitution - Missense(4)	p.P323R(2)|p.P362R(2)	lung(4)	breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(967-969)cCa>cTa		Fc receptor-like 1							102.0	98.0	99.0					1																	157767980		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157767980G>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1085C>T	1.37:g.157767980G>A	ENSP00000357158:p.Pro362Leu					FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.P362L|FCRL1_ENST00000368176.3_Missense_Mutation_p.P362L	p.P323L	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		7	1019	-	all_hematologic(112;0.0378)		362					B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.968C>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	9.692	1.152156	0.21371	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.39406	1.08;1.17;1.18	4.79	3.87	0.44632	.	0.604741	0.12482	U	0.465021	T	0.25901	0.0631	N	0.20483	0.58	0.09310	N	1	D;B;D	0.57257	0.979;0.016;0.964	P;B;P	0.57244	0.816;0.015;0.659	T	0.09207	-1.0685	10	0.32370	T	0.25	.	11.1662	0.48545	0.0:0.1861:0.8139:0.0	.	323;362;362	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	L	323;362;362	ENSP00000351039:P323L;ENSP00000357158:P362L;ENSP00000418130:P362L	ENSP00000351039:P323L	P	-	2	0	FCRL1	156034604	0.003000	0.15002	0.002000	0.10522	0.019000	0.09904	1.134000	0.31442	1.359000	0.45940	0.591000	0.81541	CCA		0.498	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		6	27	0	0	0	1	0	6	27				
ARHGAP9	64333	broad.mit.edu	37	12	57868256	57868256	+	Missense_Mutation	SNP	C	C	T	rs376421872		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:57868256C>T	ENST00000356411.2	-	15	1928	c.1790G>A	c.(1789-1791)cGt>cAt	p.R597H	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R657H|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R578H|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R668H|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R578H|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R394H			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	597	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGTGACCGCACGCTCTGCAAC	0.517																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(2002-2004)cGt>cAt		Rho GTPase activating protein 9		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	88.0	74.0	79.0		1181,1733,1733	5.1	1.0	12		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ARHGAP9	NM_001080156.1,NM_001080157.1,NM_032496.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	394/548,578/641,578/732	57868256	1,13005	2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57868256C>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1790G>A	12.37:g.57868256C>T	ENSP00000348782:p.Arg597His					ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R657H|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R578H|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R394H|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R578H|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R597H	p.R668H			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		18	2195	-			597			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2003G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.931546|3.931546	0.73442|0.73442	0.0|0.0	1.16E-4|1.16E-4	ENSG00000123329|ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041|ENST00000550399	T;T;T;T;T|.	0.19105|.	2.17;2.17;2.17;2.17;2.17|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.283124|.	0.32624|.	N|.	0.005841|.	T|T	0.67951|0.67951	0.2948|0.2948	L|L	0.49513|0.49513	1.565|1.565	0.58432|0.58432	D|D	0.999994|0.999994	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.998;0.999;0.999;0.993|.	T|T	0.63941|0.63941	-0.6523|-0.6523	10|5	0.72032|.	D|.	0.01|.	.|.	15.8782|15.8782	0.79182|0.79182	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	657;597;578;578;394|.	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3|.	.;RHG09_HUMAN;.;.;.|.	H|M	578;597;248;578;668;627;394|48	ENSP00000377380:R578H;ENSP00000348782:R597H;ENSP00000394307:R578H;ENSP00000377386:R668H;ENSP00000397950:R394H|.	ENSP00000344852:R627H|.	R|V	-|-	2|1	0|0	ARHGAP9|ARHGAP9	56154523|56154523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.254000|0.254000	0.26022|0.26022	5.653000|5.653000	0.67967|0.67967	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.517	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		20	42	0	0	0	1	0	20	42				
EPN3	55040	broad.mit.edu	37	17	48619236	48619236	+	Silent	SNP	C	C	T	rs569447624	byFrequency	TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:48619236C>T	ENST00000268933.3	+	10	2196	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	EPN3_ENST00000541226.1_3'UTR|EPN3_ENST00000537145.1_Silent_p.F567F	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	539	3 X 3 AA repeats of N-P-F.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCAACCCGTTCGGCGCGGGCG	0.716													C|||	2	0.000399361	0.0008	0.0	5008	,	,		12004	0.0		0.0	False		,,,				2504	0.001					ENST00000268933.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(1615-1617)ttC>ttT		epsin 3							19.0	23.0	22.0					17																	48619236		2202	4296	6498	SO:0001819	synonymous_variant	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48619236C>T	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1617C>T	17.37:g.48619236C>T						EPN3_ENST00000537145.1_Silent_p.F567F|EPN3_ENST00000541226.1_3'UTR	p.F539F	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		10	2196	+	Breast(11;1.23e-18)		539			3 X 3 AA repeats of N-P-F.		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	c.1617C>T	CCDS11570.1																																																																																				0.716	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		5	43	0	0	0	1	0	5	43				
LONRF3	79836	broad.mit.edu	37	X	118108892	118108892	+	Missense_Mutation	SNP	C	C	T	rs372734245		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:118108892C>T	ENST00000371628.3	+	1	180	c.149C>T	c.(148-150)cCg>cTg	p.P50L	LONRF3_ENST00000304778.7_Missense_Mutation_p.P50L|LONRF3_ENST00000422289.2_5'Flank	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	50							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCACCTCTACCGACGCGGGAG	0.677																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(148-150)cCg>cTg		LON peptidase N-terminal domain and ring finger 3		C	LEU/PRO,LEU/PRO	1,3789		0,1,1619,550	13.0	14.0	14.0		149,149	3.0	0.0	X		14	0,6683		0,0,2415,1853	no	missense,missense	LONRF3	NM_001031855.1,NM_024778.4	98,98	0,1,4034,2403	TT,TC,CC,C		0.0,0.0264,0.0095	benign,benign	50/760,50/719	118108892	1,10472	2170	4268	6438	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118108892C>T	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.149C>T	X.37:g.118108892C>T	ENSP00000360690:p.Pro50Leu					LONRF3_ENST00000371628.3_Missense_Mutation_p.P50L|LONRF3_ENST00000304778.7_Missense_Mutation_p.P50L	p.P50L			Q496Y0	LONF3_HUMAN			1	312	+			50					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.149C>T	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	C	8.200	0.797939	0.16327	2.64E-4	0.0	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	D;D;T	0.82167	-1.58;-1.58;-1.28	4.79	2.95	0.34219	.	1.149900	0.06412	N	0.720831	T	0.72087	0.3417	L	0.36672	1.1	0.19945	N	0.999949	P;B	0.36378	0.55;0.414	B;B	0.25614	0.062;0.041	T	0.56269	-0.8007	10	0.29301	T	0.29	-12.5819	7.6592	0.28394	0.3083:0.5168:0.1748:0.0	.	50;50	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	L	50	ENSP00000360691:P50L;ENSP00000307732:P50L;ENSP00000360690:P50L	ENSP00000307732:P50L	P	+	2	0	LONRF3	117992920	0.001000	0.12720	0.009000	0.14445	0.252000	0.25951	0.033000	0.13754	0.378000	0.24764	0.529000	0.55759	CCG		0.677	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		4	13	0	0	0	1	0	4	13				
HSPB2	3316	broad.mit.edu	37	11	111784374	111784374	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:111784374C>T	ENST00000304298.3	+	2	892	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	CRYAB_ENST00000533280.1_5'Flank|CRYAB_ENST00000527950.1_Intron|HSPB2_ENST00000537382.1_Missense_Mutation_p.R102W|CRYAB_ENST00000533475.1_5'UTR|CRYAB_ENST00000533971.1_5'Flank|CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000531198.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000525823.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	102					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GGTGTCTGCCCGGCACCCCCA	0.627																																						ENST00000304298.3																			0				large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(304-306)Cgg>Tgg		heat shock 27kDa protein 2							73.0	68.0	70.0					11																	111784374		2201	4297	6498	SO:0001583	missense	3316				response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding	g.chr11:111784374C>T	U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"""Heat shock proteins / HSPB"""	5247	protein-coding gene	gene with protein product		602179	"""heat shock 27kD protein 2"""			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.304C>T	11.37:g.111784374C>T	ENSP00000302476:p.Arg102Trp					CRYAB_ENST00000533475.1_5'UTR|HSPB2_ENST00000537382.1_Missense_Mutation_p.R102W|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000527950.1_Intron	p.R102W	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	2	892	+		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	102					Q6I9U7	Missense_Mutation	SNP	ENST00000304298.3	37	c.304C>T	CCDS8352.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824675	0.71143	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	D;D	0.91843	-2.92;-2.92	5.36	3.46	0.39613	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.287817	0.29737	N	0.011328	D	0.94748	0.8305	M	0.62088	1.915	0.37995	D	0.934041	D	0.89917	1.0	D	0.75484	0.986	D	0.95447	0.8531	10	0.87932	D	0	-11.9895	13.6038	0.62035	0.4077:0.5923:0.0:0.0	.	102	Q16082	HSPB2_HUMAN	W	102	ENSP00000302476:R102W;ENSP00000445585:R102W	ENSP00000302476:R102W	R	+	1	2	HSPB2	111289584	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	1.484000	0.35508	0.730000	0.32425	0.650000	0.86243	CGG		0.627	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1			11	74	0	0	0	1	0	11	74				
UBTF	7343	broad.mit.edu	37	17	42293957	42293957	+	Silent	SNP	T	T	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:42293957T>C	ENST00000302904.4	-	3	666	c.174A>G	c.(172-174)gtA>gtG	p.V58V	UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000529383.1_Silent_p.V58V|UBTF_ENST00000527034.1_Silent_p.V58V|UBTF_ENST00000393606.3_Silent_p.V58V|UBTF_ENST00000343638.5_Silent_p.V58V|UBTF_ENST00000436088.1_Silent_p.V58V|UBTF_ENST00000533177.1_Silent_p.V58V|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Silent_p.V58V			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	58					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTTAAATGCTACTTTTTCCC	0.438																																						ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(172-174)gtA>gtG		upstream binding transcription factor, RNA polymerase I							210.0	201.0	204.0					17																	42293957		2203	4300	6503	SO:0001819	synonymous_variant	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42293957T>C	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.174A>G	17.37:g.42293957T>C						UBTF_ENST00000393606.3_Silent_p.V58V|UBTF_ENST00000343638.5_Silent_p.V58V|UBTF_ENST00000529383.1_Silent_p.V58V|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000527034.1_Silent_p.V58V|UBTF_ENST00000533177.1_Silent_p.V58V|UBTF_ENST00000526094.1_Silent_p.V58V|UBTF_ENST00000436088.1_Silent_p.V58V	p.V58V			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	666	-		Breast(137;0.00765)|Prostate(33;0.0181)	58					A8K6R8	Silent	SNP	ENST00000302904.4	37	c.174A>G	CCDS11480.1																																																																																				0.438	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		135	222	0	0	0	1	0	135	222				
LRFN4	78999	broad.mit.edu	37	11	66625772	66625772	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:66625772C>T	ENST00000309602.4	+	1	800	c.557C>T	c.(556-558)cCa>cTa	p.P186L	PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.P186L	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	186						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						GCACTGCCCCCAGGCGCCTTC	0.667																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(556-558)cCa>cTa		leucine rich repeat and fibronectin type III domain containing 4							37.0	35.0	36.0					11																	66625772		2200	4294	6494	SO:0001583	missense	78999					integral to membrane		g.chr11:66625772C>T	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.557C>T	11.37:g.66625772C>T	ENSP00000312535:p.Pro186Leu					PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.P186L|PC_ENST00000393955.2_Intron	p.P186L	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	800	+			186					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.557C>T	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	C	9.495	1.101644	0.20632	.	.	ENSG00000173621	ENST00000393952;ENST00000309602;ENST00000525479	T;T	0.55234	0.53;0.53	4.18	4.18	0.49190	.	0.000000	0.47455	D	0.000224	T	0.47135	0.1429	L	0.53671	1.685	0.51233	D	0.999912	B;B	0.18013	0.013;0.025	B;B	0.26094	0.036;0.066	T	0.47341	-0.9125	10	0.44086	T	0.13	.	9.5639	0.39387	0.2098:0.7902:0.0:0.0	.	186;186	E9PLQ1;Q6PJG9	.;LRFN4_HUMAN	L	186	ENSP00000377524:P186L;ENSP00000312535:P186L	ENSP00000312535:P186L	P	+	2	0	LRFN4	66382348	0.010000	0.17322	0.961000	0.40146	0.329000	0.28539	0.710000	0.25748	2.320000	0.78422	0.313000	0.20887	CCA		0.667	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		8	34	0	0	0	1	0	8	34				
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189.0	188.0	188.0					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			5	284	0	0	0	1	0	5	284				
IKBKB	3551	broad.mit.edu	37	8	42176072	42176072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:42176072C>T	ENST00000520810.1	+	13	1429	c.1243C>T	c.(1243-1245)Caa>Taa	p.Q415*	IKBKB_ENST00000416505.2_Nonsense_Mutation_p.Q356*|IKBKB_ENST00000520835.1_Nonsense_Mutation_p.Q413*|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Nonsense_Mutation_p.Q192*	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	415					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GTCTCCAGTTCAAGAGCCCAA	0.498																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(1243-1245)Caa>Taa		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						88.0	85.0	86.0					8																	42176072		2203	4300	6503	SO:0001587	stop_gained	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42176072C>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1243C>T	8.37:g.42176072C>T	ENSP00000430684:p.Gln415*					IKBKB_ENST00000379708.3_Nonsense_Mutation_p.Q192*|IKBKB_ENST00000416505.2_Nonsense_Mutation_p.Q356*|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Nonsense_Mutation_p.Q413*	p.Q415*	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		13	1429	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	415					B4DZ30|B4E0U4|O75327	Nonsense_Mutation	SNP	ENST00000520810.1	37	c.1243C>T	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	C	44	10.705281	0.99453	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	.	.	.	5.81	4.94	0.65067	.	0.374637	0.31051	N	0.008355	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-22.5413	14.5044	0.67743	0.0:0.9291:0.0:0.0709	.	.	.	.	X	415;356;413;192	.	ENSP00000369030:Q192X	Q	+	1	0	IKBKB	42295229	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.756000	0.68757	1.462000	0.47948	0.555000	0.69702	CAA		0.498	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			53	41	0	0	0	1	0	53	41				
NFE2L3	9603	broad.mit.edu	37	7	26224783	26224783	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:26224783C>T	ENST00000056233.3	+	4	1724	c.1465C>T	c.(1465-1467)Ctt>Ttt	p.L489F		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	489					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CCATGGAGATCTTACATTTCA	0.438																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1465-1467)Ctt>Ttt		nuclear factor, erythroid 2-like 3							180.0	171.0	174.0					7																	26224783		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224783C>T	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1465C>T	7.37:g.26224783C>T	ENSP00000056233:p.Leu489Phe						p.L489F	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1724	+			489					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1465C>T	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	5.772	0.326858	0.10900	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.33865	1.39	4.91	1.96	0.26148	.	0.572406	0.15533	N	0.257384	T	0.31827	0.0809	M	0.68317	2.08	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.33137	-0.9880	10	0.54805	T	0.06	-3.6123	3.8988	0.09150	0.2742:0.3134:0.3362:0.0763	.	489	Q9Y4A8	NF2L3_HUMAN	F	489;195	ENSP00000056233:L489F	ENSP00000056233:L489F	L	+	1	0	NFE2L3	26191308	0.000000	0.05858	0.083000	0.20561	0.416000	0.31233	-0.756000	0.04777	0.169000	0.19679	0.591000	0.81541	CTT		0.438	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			30	164	0	0	0	1	0	30	164				
TECTA	7007	broad.mit.edu	37	11	120996150	120996150	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:120996150C>T	ENST00000392793.1	+	8	1614	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	TECTA_ENST00000264037.2_Missense_Mutation_p.S448F			O75443	TECTA_HUMAN	tectorin alpha	448	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCTCCATTTCCGTCCCAGGC	0.507																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(1342-1344)tCc>tTc		tectorin alpha							222.0	240.0	234.0					11																	120996150		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996150C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1343C>T	11.37:g.120996150C>T	ENSP00000376543:p.Ser448Phe					TECTA_ENST00000264037.2_Missense_Mutation_p.S448F	p.S448F			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1614	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	448			VWFD 1.			Missense_Mutation	SNP	ENST00000392793.1	37	c.1343C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373017	0.82573	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.61158	0.13;0.13	4.72	4.72	0.59763	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	M	0.75615	2.305	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	T	0.79562	-0.1752	10	0.62326	D	0.03	.	18.0384	0.89312	0.0:1.0:0.0:0.0	.	448	O75443	TECTA_HUMAN	F	448	ENSP00000376543:S448F;ENSP00000264037:S448F	ENSP00000264037:S448F	S	+	2	0	TECTA	120501360	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.744000	0.85034	2.352000	0.79861	0.563000	0.77884	TCC		0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		10	404	0	0	0	1	0	10	404				
XAGE5	170627	broad.mit.edu	37	X	52841625	52841625	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:52841625G>T	ENST00000375501.1	+	1	35	c.35G>T	c.(34-36)cGa>cTa	p.R12L	XAGE5_ENST00000425386.1_Missense_Mutation_p.R12L|XAGE5_ENST00000351072.1_Missense_Mutation_p.R12L|XAGE5_ENST00000375503.3_Missense_Mutation_p.R12L			Q8WWM1	XAGE5_HUMAN	X antigen family, member 5	12										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						AGACCAAGACGATGTTTACGA	0.433																																						ENST00000375503.3																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(34-36)cGa>cTa		X antigen family, member 5							199.0	159.0	173.0					X																	52841625		2203	4300	6503	SO:0001583	missense	170627							g.chrX:52841625G>T	BC069129	CCDS14346.1	Xp11.23	2010-10-19		2005-01-27	ENSG00000171405	ENSG00000171405			30930	protein-coding gene	gene with protein product	"""cancer/testis antigen family 12, member 5"""		"""G antigen, family D, 5"""	GAGED5		12477932	Standard	NM_130775		Approved	XAGE-5, CT12.5	uc004drd.1	Q8WWM1	OTTHUMG00000021589	ENST00000375501.1:c.35G>T	X.37:g.52841625G>T	ENSP00000364651:p.Arg12Leu					XAGE5_ENST00000425386.1_Missense_Mutation_p.R12L|XAGE5_ENST00000351072.1_Missense_Mutation_p.R12L|XAGE5_ENST00000375501.1_Missense_Mutation_p.R12L	p.R12L			Q8WWM1	GAGD5_HUMAN			1	398	+			12					Q5JS81	Missense_Mutation	SNP	ENST00000375501.1	37	c.35G>T	CCDS14346.1	.	.	.	.	.	.	.	.	.	.	g	10.51	1.371460	0.24771	.	.	ENSG00000171405	ENST00000351072;ENST00000425386;ENST00000375503;ENST00000375501	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	0.809	-0.15	0.13416	.	.	.	.	.	T	0.15652	0.0377	M	0.77313	2.365	0.09310	N	1	P	0.46327	0.876	B	0.40825	0.341	T	0.13176	-1.0519	8	0.42905	T	0.14	.	.	.	.	.	12	Q8WWM1	GAGD5_HUMAN	L	12	ENSP00000342240:R12L;ENSP00000392864:R12L;ENSP00000364653:R12L;ENSP00000364651:R12L	ENSP00000342240:R12L	R	+	2	0	XAGE5	52858350	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.452000	0.06787	-0.122000	0.11766	0.468000	0.43344	CGA		0.433	XAGE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056689.1	NM_130775		8	159	1	0	0.00621372	1	0.00629011	8	159				
KCNE3	10008	broad.mit.edu	37	11	74168573	74168573	+	Silent	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:74168573C>T	ENST00000310128.4	-	3	455	c.36G>A	c.(34-36)gaG>gaA	p.E12E	KCNE3_ENST00000525550.1_Silent_p.E12E|RP11-702H23.6_ENST00000530510.1_RNA|RP11-702H23.4_ENST00000533008.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	12					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CATGCAGGCTCTCATACCAGG	0.552																																						ENST00000310128.4																			0				cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(34-36)gaG>gaA		potassium voltage-gated channel, Isk-related family, member 3							77.0	73.0	75.0					11																	74168573		2200	4293	6493	SO:0001819	synonymous_variant	10008					integral to membrane	voltage-gated potassium channel activity	g.chr11:74168573C>T	AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"""Potassium channels"""	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.36G>A	11.37:g.74168573C>T						KCNE3_ENST00000525550.1_Silent_p.E12E|RP11-702H23.4_ENST00000533008.1_RNA	p.E12E	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN			3	455	-	Breast(11;2.86e-06)		12						Silent	SNP	ENST00000310128.4	37	c.36G>A	CCDS8232.1																																																																																				0.552	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385531.1	NM_005472		10	56	0	0	0	1	0	10	56				
CLVS1	157807	broad.mit.edu	37	8	62289331	62289331	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:62289331G>A	ENST00000519846.1	+	4	1095	c.623G>A	c.(622-624)gGg>gAg	p.G208E	CLVS1_ENST00000325897.4_Missense_Mutation_p.G208E|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	208	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCCATTGAAGGGTTGCAGGTA	0.358																																						ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(622-624)gGg>gAg		clavesin 1							58.0	57.0	58.0					8																	62289331		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62289331G>A	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.623G>A	8.37:g.62289331G>A	ENSP00000428402:p.Gly208Glu					CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.G208E	p.G208E			Q8IUQ0	CLVS1_HUMAN			4	1095	+			208			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.623G>A	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347261	0.82022	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	T;T	0.74737	-0.87;-0.87	5.97	5.97	0.96955	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.76744	0.4030	M	0.63428	1.95	0.80722	D	1	B	0.23806	0.091	B	0.32583	0.148	T	0.69935	-0.5010	10	0.30854	T	0.27	-7.373	20.4238	0.99064	0.0:0.0:1.0:0.0	.	208	Q8IUQ0	CLVS1_HUMAN	E	208	ENSP00000428402:G208E;ENSP00000325506:G208E	ENSP00000325506:G208E	G	+	2	0	CLVS1	62451885	1.000000	0.71417	0.999000	0.59377	0.558000	0.35554	9.869000	0.99810	2.834000	0.97654	0.650000	0.86243	GGG		0.358	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		43	64	0	0	0	1	0	43	64				
COLEC11	78989	broad.mit.edu	37	2	3691387	3691387	+	Silent	SNP	C	C	T	rs545129835		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:3691387C>T	ENST00000349077.4	+	7	598	c.495C>T	c.(493-495)gaC>gaT	p.D165D	COLEC11_ENST00000404205.1_Silent_p.D91D|COLEC11_ENST00000236693.7_Silent_p.D162D|COLEC11_ENST00000382062.2_Silent_p.D141D|COLEC11_ENST00000402922.1_Silent_p.D115D|COLEC11_ENST00000418971.2_Silent_p.D179D|COLEC11_ENST00000402794.1_Silent_p.D115D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000403096.3_Silent_p.D139D	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	165	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GCTACGCGGACGCCCAGCTGT	0.662																																						ENST00000403096.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(415-417)gaC>gaT		collectin sub-family member 11							38.0	40.0	39.0					2																	3691387		2203	4298	6501	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3691387C>T	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.495C>T	2.37:g.3691387C>T						COLEC11_ENST00000236693.7_Silent_p.D162D|COLEC11_ENST00000404205.1_Silent_p.D91D|COLEC11_ENST00000402794.1_Silent_p.D115D|COLEC11_ENST00000402922.1_Silent_p.D115D|COLEC11_ENST00000382062.2_Silent_p.D141D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000349077.4_Silent_p.D165D|COLEC11_ENST00000418971.2_Silent_p.D179D	p.D139D	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	908	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		165					A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	c.417C>T	CCDS1649.1																																																																																				0.662	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		21	56	0	0	0	1	0	21	56				
CARS	833	broad.mit.edu	37	11	3028178	3028178	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:3028178G>A	ENST00000397111.5	-	18	2076	c.1831C>T	c.(1831-1833)Ctg>Ttg	p.L611L	CARS_ENST00000278224.9_Silent_p.L611L|CARS_ENST00000380525.4_Silent_p.L694L|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000401769.3_Silent_p.L624L|CARS_ENST00000397114.3_Silent_p.L601L			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	611					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTGAGCTGCAGAATCTCAGGG	0.602			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(1801-1803)Ctg>Ttg		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						131.0	125.0	127.0					11																	3028178		2202	4298	6500	SO:0001819	synonymous_variant	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3028178G>A	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1831C>T	11.37:g.3028178G>A						CARS_ENST00000380525.4_Silent_p.L694L|CARS_ENST00000397111.5_Silent_p.L611L|CARS_ENST00000401769.3_Silent_p.L624L|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Silent_p.L611L	p.L601L			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	19	2177	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	611					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	ENST00000397111.5	37	c.1801C>T	CCDS7742.1																																																																																				0.602	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		8	153	0	0	0	1	0	8	153				
POLK	51426	broad.mit.edu	37	5	74892409	74892409	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:74892409C>G	ENST00000241436.4	+	13	2063	c.1891C>G	c.(1891-1893)Caa>Gaa	p.Q631E	POLK_ENST00000352007.5_Missense_Mutation_p.Q433E|POLK_ENST00000504026.1_Intron|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.Q541E|POLK_ENST00000508526.1_Missense_Mutation_p.Q433E	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	631					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CTTTAGGGCTCAAGGGTGCAT	0.373								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1891-1893)Caa>Gaa	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							135.0	134.0	135.0					5																	74892409		2203	4300	6503	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892409C>G	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1891C>G	5.37:g.74892409C>G	ENSP00000241436:p.Gln631Glu					POLK_ENST00000508526.1_Missense_Mutation_p.Q433E|POLK_ENST00000380481.3_Missense_Mutation_p.Q541E|POLK_ENST00000352007.5_Missense_Mutation_p.Q433E|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron	p.Q631E	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	2063	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	631					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.1891C>G	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	C	9.279	1.047724	0.19827	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.58060	1.15;0.36;0.36;1.17	5.47	5.47	0.80525	Zinc finger, Rad18-type putative (1);	0.262593	0.40144	N	0.001164	T	0.45716	0.1356	L	0.55213	1.73	0.29082	N	0.882608	P;P	0.39250	0.552;0.665	B;B	0.34652	0.187;0.105	T	0.47649	-0.9101	10	0.20046	T	0.44	-11.5028	14.893	0.70623	0.0:0.857:0.143:0.0	.	433;631	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	E	631;433;433;541	ENSP00000241436:Q631E;ENSP00000342256:Q433E;ENSP00000426853:Q433E;ENSP00000369848:Q541E	ENSP00000241436:Q631E	Q	+	1	0	POLK	74928165	0.997000	0.39634	0.488000	0.27440	0.087000	0.18053	3.262000	0.51538	2.559000	0.86315	0.655000	0.94253	CAA		0.373	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		6	153	0	0	0	1	0	6	153				
MSH4	4438	broad.mit.edu	37	1	76282183	76282183	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:76282183C>T	ENST00000263187.3	+	6	1045	c.941C>T	c.(940-942)tCa>tTa	p.S314L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	314					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATGATAGATTCATCATCAGCC	0.279								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(940-942)tCa>tTa	Mismatch excision repair (MMR)	mutS homolog 4							60.0	62.0	61.0					1																	76282183		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76282183C>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.941C>T	1.37:g.76282183C>T	ENSP00000263187:p.Ser314Leu						p.S314L	NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			6	1045	+			314					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.941C>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731580	0.30684	.	.	ENSG00000057468	ENST00000263187	D	0.91792	-2.91	5.44	5.44	0.79542	DNA mismatch repair protein MutS, connector (1);DNA mismatch repair protein MutS, core (1);	0.000000	0.85682	D	0.000000	D	0.88415	0.6430	L	0.47716	1.5	0.50632	D	0.999885	B	0.25486	0.127	B	0.31869	0.137	D	0.86630	0.1885	10	0.72032	D	0.01	-7.6423	19.2675	0.93996	0.0:1.0:0.0:0.0	.	314	O15457	MSH4_HUMAN	L	314	ENSP00000263187:S314L	ENSP00000263187:S314L	S	+	2	0	MSH4	76054771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.412000	0.80091	2.573000	0.86826	0.655000	0.94253	TCA		0.279	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		19	46	0	0	0	1	0	19	46				
MUC16	94025	broad.mit.edu	37	19	9058944	9058944	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr19:9058944G>T	ENST00000397910.4	-	3	28705	c.28502C>A	c.(28501-28503)gCc>gAc	p.A9501D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9503	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTAGAAGCGGCCAGACTCTC	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28501-28503)gCc>gAc		mucin 16, cell surface associated							163.0	158.0	160.0					19																	9058944		1989	4177	6166	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058944G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28502C>A	19.37:g.9058944G>T	ENSP00000381008:p.Ala9501Asp						p.A9501D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28705	-			9503			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28502C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.135	0.393072	0.11638	.	.	ENSG00000181143	ENST00000397910	T	0.26518	1.73	2.29	-3.49	0.04724	.	.	.	.	.	T	0.11324	0.0276	N	0.08118	0	.	.	.	B	0.20052	0.041	B	0.23574	0.047	T	0.28870	-1.0030	8	0.87932	D	0	.	5.0287	0.14398	0.0:0.3695:0.2571:0.3734	.	9501	B5ME49	.	D	9501	ENSP00000381008:A9501D	ENSP00000381008:A9501D	A	-	2	0	MUC16	8919944	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.532000	0.02217	-0.691000	0.05135	0.306000	0.20318	GCC		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	153	1	0	1.7881e-09	1	1.95425e-09	30	153				
DCAF12L1	139170	broad.mit.edu	37	X	125685745	125685745	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:125685745C>T	ENST00000371126.1	-	1	1089	c.847G>A	c.(847-849)Gac>Aac	p.D283N		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	283										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AAGTAGCCGTCCAAGGACACC	0.622																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(847-849)Gac>Aac		DDB1 and CUL4 associated factor 12-like 1							52.0	50.0	51.0					X																	125685745		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685745C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.847G>A	X.37:g.125685745C>T	ENSP00000360167:p.Asp283Asn						p.D283N	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1089	-			283					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.847G>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637744	0.29157	.	.	ENSG00000198889	ENST00000371126	T	0.72942	-0.7	3.9	3.03	0.35002	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.37809	N	0.001933	T	0.72985	0.3529	L	0.38649	1.16	0.31178	N	0.702456	D	0.89917	1.0	D	0.83275	0.996	T	0.70270	-0.4918	10	0.32370	T	0.25	.	8.5792	0.33617	0.0:0.7701:0.2299:0.0	.	283	Q5VU92	DC121_HUMAN	N	283	ENSP00000360167:D283N	ENSP00000360167:D283N	D	-	1	0	DCAF12L1	125513426	1.000000	0.71417	0.040000	0.18447	0.602000	0.36980	2.644000	0.46613	1.013000	0.39391	0.429000	0.28392	GAC		0.622	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		8	93	0	0	0	1	0	8	93				
PTGDS	5730	broad.mit.edu	37	9	139872000	139872000	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:139872000A>T	ENST00000371625.3	+	0	44				PTGDS_ENST00000224167.2_De_novo_Start_OutOfFrame|RP11-229P13.19_ENST00000413913.2_RNA	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CACTGGCACCAGGCCCCGGAC	0.667																																						ENST00000224167.2																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7								prostaglandin D2 synthase 21kDa (brain)							30.0	25.0	27.0					9																	139872000		2181	4294	6475			5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139872000A>T	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.-31A>T	9.37:g.139872000A>T						PTGDS_ENST00000371625.3_De_novo_Start_OutOfFrame				P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	0	45	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)						B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Translation_Start_Site	SNP	ENST00000371625.3	37		CCDS7019.1																																																																																				0.667	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		6	8	0	0	0	1	0	6	8				
IPO7	10527	broad.mit.edu	37	11	9455312	9455312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:9455312C>T	ENST00000379719.3	+	18	2135	c.1993C>T	c.(1993-1995)Caa>Taa	p.Q665*	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	665					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTGACATGTCAACAAGTGTC	0.398																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1993-1995)Caa>Taa		importin 7							94.0	87.0	89.0					11																	9455312		2201	4295	6496	SO:0001587	stop_gained	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9455312C>T	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1993C>T	11.37:g.9455312C>T	ENSP00000369042:p.Gln665*						p.Q665*	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	18	2135	+			665					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Nonsense_Mutation	SNP	ENST00000379719.3	37	c.1993C>T	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	C	41	8.715504	0.98927	.	.	ENSG00000205339	ENST00000379719	.	.	.	5.3	5.3	0.74995	.	0.165039	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0207	0.92915	0.0:1.0:0.0:0.0	.	.	.	.	X	665	.	ENSP00000369042:Q665X	Q	+	1	0	IPO7	9411888	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.817000	0.86213	2.503000	0.84419	0.460000	0.39030	CAA		0.398	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		18	71	0	0	0	1	0	18	71				
NBEA	26960	broad.mit.edu	37	13	35733561	35733561	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr13:35733561G>C	ENST00000400445.3	+	22	3787	c.3253G>C	c.(3253-3255)Gag>Cag	p.E1085Q	NBEA_ENST00000540320.1_Missense_Mutation_p.E1085Q|NBEA_ENST00000379939.2_Missense_Mutation_p.E1085Q|NBEA_ENST00000310336.4_Missense_Mutation_p.E1085Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1085					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTAGGTGGAGAGAATGGTGC	0.393																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(3253-3255)Gag>Cag		neurobeachin							128.0	122.0	124.0					13																	35733561		1879	4110	5989	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35733561G>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3253G>C	13.37:g.35733561G>C	ENSP00000383295:p.Glu1085Gln					NBEA_ENST00000400445.3_Missense_Mutation_p.E1085Q|NBEA_ENST00000379939.2_Missense_Mutation_p.E1085Q|NBEA_ENST00000310336.4_Missense_Mutation_p.E1085Q	p.E1085Q			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	22	3787	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1085					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.3253G>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694409	0.30052	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.09	5.09	0.68999	.	0.143683	0.48286	D	0.000198	T	0.40222	0.1108	N	0.19112	0.55	0.80722	D	1	B	0.14438	0.01	B	0.10450	0.005	T	0.16689	-1.0394	10	0.22706	T	0.39	.	18.4855	0.90827	0.0:0.0:1.0:0.0	.	1085	Q5T321	.	Q	1085	ENSP00000440951:E1085Q;ENSP00000383295:E1085Q;ENSP00000369271:E1085Q;ENSP00000308534:E1085Q	ENSP00000308534:E1085Q	E	+	1	0	NBEA	34631561	1.000000	0.71417	0.979000	0.43373	0.988000	0.76386	5.116000	0.64661	2.370000	0.80446	0.555000	0.69702	GAG		0.393	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		10	14	0	0	0	1	0	10	14				
PDZD4	57595	broad.mit.edu	37	X	153070325	153070325	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:153070325C>T	ENST00000164640.4	-	8	984	c.793G>A	c.(793-795)Gat>Aat	p.D265N	PDZD4_ENST00000393758.2_Missense_Mutation_p.D190N|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.D156N	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	265						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCGGCATCGGGAGCCCCC	0.632																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(793-795)Gat>Aat		PDZ domain containing 4							24.0	23.0	23.0					X																	153070325		2201	4290	6491	SO:0001583	missense	57595					cell cortex		g.chrX:153070325C>T	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.793G>A	X.37:g.153070325C>T	ENSP00000164640:p.Asp265Asn					PDZD4_ENST00000544474.1_Missense_Mutation_p.D156N|PDZD4_ENST00000393758.2_Missense_Mutation_p.D190N	p.D265N	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	984	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		265					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.793G>A	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	5.976	0.363971	0.11296	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.05580	3.43;3.42;3.63	4.99	1.82	0.25136	.	1.084810	0.06910	N	0.807447	T	0.07863	0.0197	L	0.43923	1.385	0.09310	N	1	B;B;B;B;B	0.15719	0.003;0.014;0.001;0.001;0.006	B;B;B;B;B	0.12837	0.003;0.005;0.0;0.0;0.008	T	0.38824	-0.9643	10	0.72032	D	0.01	-3.4909	8.4128	0.32653	0.0:0.6126:0.0:0.3874	.	156;271;265;190;169	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	N	265;190;169;156	ENSP00000164640:D265N;ENSP00000377355:D190N;ENSP00000442033:D156N	ENSP00000164640:D265N	D	-	1	0	PDZD4	152723519	0.007000	0.16637	0.000000	0.03702	0.038000	0.13279	1.964000	0.40462	0.357000	0.24183	0.529000	0.55759	GAT		0.632	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		23	49	0	0	0	1	0	23	49				
LHX2	9355	broad.mit.edu	37	9	126777643	126777643	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:126777643C>T	ENST00000373615.4	+	3	1305	c.566C>T	c.(565-567)gCg>gTg	p.A189V		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	189	Poly-Ala.				axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GTGGCAGCGGCGGCCGCTGCA	0.677																																						ENST00000373615.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						c.(565-567)gCg>gTg		LIM homeobox 2							16.0	18.0	17.0					9																	126777643		2194	4287	6481	SO:0001583	missense	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126777643C>T	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.566C>T	9.37:g.126777643C>T	ENSP00000362717:p.Ala189Val						p.A189V	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN			3	1305	+			189			Poly-Ala.		O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	c.566C>T	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	C	9.649	1.141172	0.21205	.	.	ENSG00000106689	ENST00000373615	D	0.84223	-1.82	5.06	5.06	0.68205	.	0.000000	0.39544	N	0.001338	D	0.85344	0.5675	N	0.22421	0.69	0.30665	N	0.754015	P;D	0.67145	0.475;0.996	B;D	0.65874	0.069;0.939	T	0.82571	-0.0391	10	0.31617	T	0.26	.	13.9201	0.63926	0.0:1.0:0.0:0.0	.	189;189	B3KNJ5;P50458	.;LHX2_HUMAN	V	189	ENSP00000362717:A189V	ENSP00000362717:A189V	A	+	2	0	LHX2	125817464	1.000000	0.71417	0.084000	0.20598	0.078000	0.17371	1.842000	0.39250	2.341000	0.79615	0.462000	0.41574	GCG		0.677	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			9	53	0	0	0	1	0	9	53				
FOLH1	2346	broad.mit.edu	37	11	49208288	49208288	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:49208288C>T	ENST00000256999.2	-	5	807	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	FOLH1_ENST00000533034.1_Missense_Mutation_p.E168K|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Missense_Mutation_p.E168K|FOLH1_ENST00000356696.3_Missense_Mutation_p.E183K	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	183					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AAGAAGTCTTCAGTTCGTGCA	0.383																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(502-504)Gaa>Aaa		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						89.0	90.0	90.0					11																	49208288		2201	4298	6499	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49208288C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.547G>A	11.37:g.49208288C>T	ENSP00000256999:p.Glu183Lys					FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.E183K|FOLH1_ENST00000256999.2_Missense_Mutation_p.E183K|FOLH1_ENST00000533034.1_Missense_Mutation_p.E168K	p.E168K	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			6	870	-			183					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.502G>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982541	0.53827	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	3.05	2.11	0.27256	Protease-associated domain, PA (1);	0.120799	0.36519	N	0.002542	T	0.51261	0.1664	M	0.73962	2.25	0.80722	D	1	B;B;B;B	0.28512	0.214;0.119;0.089;0.028	B;B;B;B	0.39419	0.299;0.086;0.105;0.074	T	0.53989	-0.8360	10	0.72032	D	0.01	.	8.0591	0.30623	0.0:0.8708:0.0:0.1292	.	168;168;183;183	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	K	183;183;168;168;183	ENSP00000256999:E183K;ENSP00000349129:E183K;ENSP00000344131:E168K;ENSP00000431463:E168K	ENSP00000256999:E183K	E	-	1	0	FOLH1	49164864	0.994000	0.37717	0.992000	0.48379	0.990000	0.78478	3.185000	0.50934	0.646000	0.30693	0.430000	0.28490	GAA		0.383	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		14	118	0	0	0	1	0	14	118				
BAIAP2	10458	broad.mit.edu	37	17	79078365	79078365	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:79078365G>A	ENST00000321300.6	+	10	1211	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	BAIAP2_ENST00000575712.1_Missense_Mutation_p.R373H|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R295H|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R373H|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R373H|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R236H|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R373H|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R406H	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	373					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGCCTGGAGCGCAATGGCCGT	0.642																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(1117-1119)cGc>cAc		BAI1-associated protein 2							50.0	50.0	50.0					17																	79078365		2201	4299	6500	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79078365G>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1118G>A	17.37:g.79078365G>A	ENSP00000316338:p.Arg373His					BAIAP2_ENST00000321280.7_Missense_Mutation_p.R373H|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R406H|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R373H|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R295H|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R236H|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R373H|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R373H	p.R373H	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		10	1211	+	all_neural(118;0.101)		373					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.1118G>A	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260999	0.39995	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.33654	1.84;1.86;1.41;1.41;1.84;1.4	4.79	4.79	0.61399	Src homology-3 domain (1);	0.048983	0.85682	D	0.000000	T	0.52517	0.1739	M	0.61703	1.905	0.43953	D	0.996625	D;D;D;D;D;D;D;D;D	0.76494	0.999;0.991;0.998;0.996;0.996;0.98;0.996;0.992;0.996	P;P;P;P;P;P;D;P;P	0.63488	0.847;0.821;0.814;0.789;0.895;0.765;0.915;0.895;0.895	T	0.50432	-0.8829	10	0.42905	T	0.14	-44.5106	12.6489	0.56749	0.081:0.0:0.919:0.0	.	236;295;374;373;373;373;373;374;373	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	H	373;373;373;373;295;236	ENSP00000316338:R373H;ENSP00000401022:R373H;ENSP00000413069:R373H;ENSP00000315685:R373H;ENSP00000376211:R295H;ENSP00000391837:R236H	ENSP00000315685:R373H	R	+	2	0	BAIAP2	76692960	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	3.514000	0.53422	2.382000	0.81193	0.484000	0.47621	CGC		0.642	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			4	97	0	0	0	1	0	4	97				
SCRIB	23513	broad.mit.edu	37	8	144893330	144893330	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:144893330G>A	ENST00000320476.3	-	10	1098	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D	SCRIB_ENST00000377533.3_Silent_p.D283D|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Silent_p.D364D	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	364	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCCCCGCCACGTCCAGCACGT	0.701																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1090-1092)gaC>gaT		scribbled planar cell polarity protein							24.0	22.0	22.0					8																	144893330		2194	4292	6486	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144893330G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1092C>T	8.37:g.144893330G>A						SCRIB_ENST00000377533.3_Silent_p.D283D|SCRIB_ENST00000320476.3_Silent_p.D364D	p.D364D	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		10	1098	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		364			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.1092C>T	CCDS6411.1																																																																																				0.701	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		4	30	0	0	0	1	0	4	30				
MCM3AP	8888	broad.mit.edu	37	21	47660846	47660846	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr21:47660846C>T	ENST00000397708.1	-	27	5766	c.5512G>A	c.(5512-5514)Gag>Aag	p.E1838K	MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1838K|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1838					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGAGCACACTCTGTGCTCCTC	0.493																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5512-5514)Gag>Aag		minichromosome maintenance complex component 3 associated protein							176.0	157.0	164.0					21																	47660846		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47660846C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5512G>A	21.37:g.47660846C>T	ENSP00000380820:p.Glu1838Lys					MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1838K|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA	p.E1838K			O60318	MCM3A_HUMAN			27	5766	-	Breast(49;0.112)		1838					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.5512G>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984228	0.35036	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03496	3.91;3.91	5.57	5.57	0.84162	.	0.864667	0.10521	N	0.664968	T	0.03305	0.0096	L	0.29908	0.895	0.09310	N	1	B;B	0.33583	0.18;0.418	B;B	0.25140	0.04;0.058	T	0.41645	-0.9497	10	0.12103	T	0.63	-6.8694	12.7775	0.57457	0.0:0.8354:0.1646:0.0	.	1838;333	O60318;B3KT88	MCM3A_HUMAN;.	K	1838;1838;333	ENSP00000380820:E1838K;ENSP00000291688:E1838K	ENSP00000291688:E1838K	E	-	1	0	MCM3AP	46485274	0.003000	0.15002	0.006000	0.13384	0.023000	0.10783	1.714000	0.37961	2.609000	0.88269	0.650000	0.86243	GAG		0.493	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		21	98	0	0	0	1	0	21	98				
FOXK1	221937	broad.mit.edu	37	7	4796636	4796636	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:4796636G>A	ENST00000328914.4	+	5	1062	c.1062G>A	c.(1060-1062)cgG>cgA	p.R354R	FOXK1_ENST00000446823.1_Silent_p.R191R	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ATTCTATCCGGCACAACCTCT	0.522																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1060-1062)cgG>cgA		forkhead box K1							77.0	79.0	78.0					7																	4796636		2203	4300	6503	SO:0001819	synonymous_variant	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4796636G>A	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1062G>A	7.37:g.4796636G>A						FOXK1_ENST00000446823.1_Silent_p.R191R	p.R354R	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	5	1062	+		Ovarian(82;0.0175)	354						Silent	SNP	ENST00000328914.4	37	c.1062G>A	CCDS34591.1																																																																																				0.522	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			4	117	0	0	0	1	0	4	117				
SCIN	85477	broad.mit.edu	37	7	12675695	12675695	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:12675695G>A	ENST00000297029.5	+	10	1446	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	SCIN_ENST00000519209.1_Missense_Mutation_p.E202K|SCIN_ENST00000445618.2_Missense_Mutation_p.E202K	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	449	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CACACGAGATGAGCTGACAAC	0.463																																						ENST00000297029.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17						c.(1345-1347)Gag>Aag		scinderin							90.0	89.0	89.0					7																	12675695		2027	4192	6219	SO:0001583	missense	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12675695G>A	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1345G>A	7.37:g.12675695G>A	ENSP00000297029:p.Glu449Lys					SCIN_ENST00000519209.1_Missense_Mutation_p.E202K|SCIN_ENST00000445618.2_Missense_Mutation_p.E202K	p.E449K	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	10	1446	+			449			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	c.1345G>A	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580913	0.86748	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.22134	1.97;1.97;1.97	5.55	5.55	0.83447	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60250	-0.7300	10	0.87932	D	0	-25.8465	19.4944	0.95065	0.0:0.0:1.0:0.0	.	449	Q9Y6U3	ADSV_HUMAN	K	449;202;202	ENSP00000297029:E449K;ENSP00000430997:E202K;ENSP00000390189:E202K	ENSP00000297029:E449K	E	+	1	0	SCIN	12642220	1.000000	0.71417	0.994000	0.49952	0.237000	0.25408	9.476000	0.97823	2.597000	0.87782	0.655000	0.94253	GAG		0.463	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		5	21	0	0	0	1	0	5	21				
TECTA	7007	broad.mit.edu	37	11	120979946	120979946	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:120979946C>G	ENST00000392793.1	+	4	496	c.225C>G	c.(223-225)ttC>ttG	p.F75L	TECTA_ENST00000264037.2_Missense_Mutation_p.F75L			O75443	TECTA_HUMAN	tectorin alpha	75					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTGTTTCCTTCAATGTGCTAG	0.468																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(223-225)ttC>ttG		tectorin alpha							90.0	83.0	86.0					11																	120979946		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120979946C>G	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.225C>G	11.37:g.120979946C>G	ENSP00000376543:p.Phe75Leu					TECTA_ENST00000264037.2_Missense_Mutation_p.F75L	p.F75L			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	4	496	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	75						Missense_Mutation	SNP	ENST00000392793.1	37	c.225C>G	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896833	0.52121	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.81821	-1.54;-1.54	5.33	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.88466	0.6444	M	0.81179	2.53	0.40768	D	0.983065	D	0.63880	0.993	D	0.68192	0.956	D	0.89689	0.3896	10	0.87932	D	0	.	11.209	0.48786	0.0:0.8522:0.0:0.1478	.	75	O75443	TECTA_HUMAN	L	75	ENSP00000376543:F75L;ENSP00000264037:F75L	ENSP00000264037:F75L	F	+	3	2	TECTA	120485156	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	3.324000	0.52022	1.253000	0.44018	0.561000	0.74099	TTC		0.468	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		5	41	0	0	0	1	0	5	41				
TSNARE1	203062	broad.mit.edu	37	8	143399953	143399953	+	Silent	SNP	G	G	A	rs144275934		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:143399953G>A	ENST00000307180.3	-	7	1053	c.936C>T	c.(934-936)agC>agT	p.S312S	TSNARE1_ENST00000524325.1_Silent_p.S312S|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Silent_p.S312S|TSNARE1_ENST00000519651.1_Silent_p.S93S	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	312					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGAGCTGGCGCTGGCTGCAA	0.657																																						ENST00000519651.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(277-279)agC>agT		t-SNARE domain containing 1		G		1,4405	2.1+/-5.4	0,1,2202	99.0	93.0	95.0		936	1.8	0.4	8	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSNARE1	NM_145003.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		312/514	143399953	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	203062				vesicle-mediated transport	integral to membrane		g.chr8:143399953G>A			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.936C>T	8.37:g.143399953G>A						TSNARE1_ENST00000307180.3_Silent_p.S312S|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000524325.1_Silent_p.S312S|TSNARE1_ENST00000520166.1_Silent_p.S312S	p.S93S			Q96NA8	TSNA1_HUMAN			5	382	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		312					B7ZLB0|Q14D03	Silent	SNP	ENST00000307180.3	37	c.279C>T	CCDS6384.1																																																																																				0.657	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		21	168	0	0	0	1	0	21	168				
CAPN13	92291	broad.mit.edu	37	2	30965219	30965219	+	Silent	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:30965219C>T	ENST00000295055.8	-	14	1628	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L	CAPN13_ENST00000534090.2_Silent_p.L484L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	484					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AATGGCTGCTCAGGTGCCTAG	0.537																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(1450-1452)ctG>ctA		calpain 13							47.0	49.0	48.0					2																	30965219		2003	4177	6180	SO:0001819	synonymous_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30965219C>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1452G>A	2.37:g.30965219C>T						CAPN13_ENST00000534090.2_Silent_p.L484L	p.L484L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			14	1628	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		484					Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	c.1452G>A	CCDS46252.1																																																																																				0.537	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		3	17	0	0	0	1	0	3	17				
AXIN1	8312	broad.mit.edu	37	16	347826	347826	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:347826G>A	ENST00000262320.3	-	6	2051	c.1680C>T	c.(1678-1680)agC>agT	p.S560S	AXIN1_ENST00000354866.3_Silent_p.S560S|AXIN1_ENST00000481769.1_5'Flank	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	560	Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AGGCGAAGCTGCTCTGGGCCC	0.701																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1678-1680)agC>agT		axin 1							34.0	33.0	33.0					16																	347826		2202	4299	6501	SO:0001819	synonymous_variant	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:347826G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1680C>T	16.37:g.347826G>A						AXIN1_ENST00000354866.3_Silent_p.S560S	p.S560S	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			6	2051	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	560			Interaction with RNF111.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	c.1680C>T	CCDS10405.1																																																																																				0.701	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			6	25	0	0	0	1	0	6	25				
PPP1R32	220004	broad.mit.edu	37	11	61254049	61254049	+	Silent	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:61254049C>T	ENST00000338608.2	+	9	926	c.801C>T	c.(799-801)ttC>ttT	p.F267F	PPP1R32_ENST00000432063.2_Silent_p.F247F|PPP1R32_ENST00000366212.4_5'Flank|PPP1R32_ENST00000538185.1_5'Flank	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	267							phosphatase binding (GO:0019902)										AAACAGCCTTCAGCCGAGGGA	0.582																																						ENST00000338608.2																			0											c.(799-801)ttC>ttT		protein phosphatase 1, regulatory subunit 32							53.0	51.0	52.0					11																	61254049		2202	4299	6501	SO:0001819	synonymous_variant	220004							g.chr11:61254049C>T	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.801C>T	11.37:g.61254049C>T						PPP1R32_ENST00000432063.2_Silent_p.F247F	p.F267F	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN			9	926	+			267					Q4G0P4|Q96M77	Silent	SNP	ENST00000338608.2	37	c.801C>T	CCDS8008.1																																																																																				0.582	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		8	29	0	0	0	1	0	8	29				
USP6NL	9712	broad.mit.edu	37	10	11531113	11531113	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:11531113G>T	ENST00000609104.1	-	10	1046	c.652C>A	c.(652-654)Cat>Aat	p.H218N	USP6NL_ENST00000277575.5_Missense_Mutation_p.H235N|USP6NL_ENST00000379237.2_Missense_Mutation_p.H241N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	218	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TGCATGGCATGTTTAGGGCCT	0.423																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(652-654)Cat>Aat		USP6 N-terminal like							100.0	100.0	100.0					10																	11531113		1873	4112	5985	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11531113G>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.652C>A	10.37:g.11531113G>T	ENSP00000476462:p.His218Asn					USP6NL_ENST00000277575.5_Missense_Mutation_p.H235N	p.H218N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			10	1046	-			218			Rab-GAP TBC.		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.652C>A	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084481	0.76642	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04275	3.66;3.66	5.24	4.1	0.47936	Rab-GAP/TBC domain (4);	0.101928	0.64402	D	0.000002	T	0.20333	0.0489	M	0.79926	2.475	0.58432	D	0.999999	D;D	0.64830	0.994;0.993	D;D	0.71656	0.974;0.956	T	0.00143	-1.1996	10	0.72032	D	0.01	.	12.5482	0.56212	0.115:0.0:0.885:0.0	.	218;235	Q92738;Q92738-2	US6NL_HUMAN;.	N	218;235;218	ENSP00000277575:H235N;ENSP00000368539:H218N	ENSP00000277575:H235N	H	-	1	0	USP6NL	11571119	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.735000	0.74806	2.606000	0.88127	0.655000	0.94253	CAT		0.423	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		22	105	1	0	3.5997e-14	1	4.02319e-14	22	105				
NRP2	8828	broad.mit.edu	37	2	206608171	206608171	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:206608171C>G	ENST00000357785.5	+	9	1567	c.1536C>G	c.(1534-1536)atC>atG	p.I512M	NRP2_ENST00000355117.4_Missense_Mutation_p.I512M|NRP2_ENST00000540841.1_Missense_Mutation_p.I512M|NRP2_ENST00000357118.4_Missense_Mutation_p.I512M|NRP2_ENST00000272849.3_Missense_Mutation_p.I512M|NRP2_ENST00000540178.1_Missense_Mutation_p.I512M|NRP2_ENST00000360409.3_Missense_Mutation_p.I512M|NRP2_ENST00000417189.1_Missense_Mutation_p.I512M|NRP2_ENST00000412873.2_Missense_Mutation_p.I512M			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 3; 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						GAGACAGTATCACTGCTGTGG	0.567																																						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.(1534-1536)atC>atG		neuropilin 2							78.0	83.0	81.0					2																	206608171		2203	4300	6503	SO:0001583	missense	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.chr2:206608171C>G	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.1536C>G	2.37:g.206608171C>G	ENSP00000350432:p.Ile512Met					NRP2_ENST00000540841.1_Missense_Mutation_p.I512M|NRP2_ENST00000417189.1_Missense_Mutation_p.I512M|NRP2_ENST00000357118.4_Missense_Mutation_p.I512M|NRP2_ENST00000272849.3_Missense_Mutation_p.I512M|NRP2_ENST00000357785.5_Missense_Mutation_p.I512M|NRP2_ENST00000355117.4_Missense_Mutation_p.I512M|NRP2_ENST00000412873.2_Missense_Mutation_p.I512M|NRP2_ENST00000540178.1_Missense_Mutation_p.I512M	p.I512M	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			9	2327	+			512			F5/8 type C 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.1536C>G	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879601	0.33162	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98926	-5.24;-5.24;-5.24;-1.62;-1.62;-5.24;-5.24;-5.24;-5.24	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.193684	0.56097	D	0.000035	D	0.95834	0.8644	N	0.19112	0.55	0.29424	N	0.860328	B;B;B;B;B;B	0.33171	0.313;0.313;0.4;0.313;0.313;0.365	B;B;B;B;B;B	0.36766	0.134;0.134;0.232;0.095;0.095;0.214	D	0.93137	0.6538	10	0.59425	D	0.04	-21.9178	10.258	0.43410	0.0:0.7804:0.1468:0.0728	.	512;512;512;512;512;512	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	M	512	ENSP00000353582:I512M;ENSP00000439658:I512M;ENSP00000439261:I512M;ENSP00000347238:I512M;ENSP00000387519:I512M;ENSP00000349632:I512M;ENSP00000350432:I512M;ENSP00000407626:I512M;ENSP00000272849:I512M	ENSP00000272849:I512M	I	+	3	3	NRP2	206316416	0.901000	0.30685	1.000000	0.80357	0.404000	0.30871	0.517000	0.22832	2.813000	0.96785	0.655000	0.94253	ATC		0.567	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			3	63	0	0	0	1	0	3	63				
CELA3A	10136	broad.mit.edu	37	1	22332274	22332274	+	Missense_Mutation	SNP	C	C	T	rs147890009		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:22332274C>T	ENST00000290122.3	+	4	366	c.347C>T	c.(346-348)tCg>tTg	p.S116L	CELA3A_ENST00000374663.1_Missense_Mutation_p.S116L|RN7SL768P_ENST00000584415.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	116	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGAACCGCTCGTGTGTGGCC	0.582																																						ENST00000290122.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(346-348)tCg>tTg		chymotrypsin-like elastase family, member 3A		C	LEU/SER	1,4397	2.1+/-5.4	0,1,2198	125.0	112.0	117.0		347	-6.2	0.0	1	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELA3A	NM_005747.4	145	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154		116/271	22332274	2,12996	2199	4300	6499	SO:0001583	missense	10136							g.chr1:22332274C>T	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.347C>T	1.37:g.22332274C>T	ENSP00000290122:p.Ser116Leu					CELA3A_ENST00000374663.1_Missense_Mutation_p.S116L	p.S116L	NM_005747.4	NP_005738.4					4	366	+								B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.347C>T	CCDS220.1	.	.	.	.	.	.	.	.	.	.	C	1.583	-0.531169	0.04112	2.27E-4	1.16E-4	ENSG00000142789	ENST00000290122;ENST00000374663;ENST00000374661	D;D	0.89343	-2.5;-2.5	3.88	-6.17	0.02091	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.72534	0.3472	N	0.16368	0.405	0.09310	N	1	B;B	0.13594	0.007;0.008	B;B	0.13407	0.004;0.009	T	0.57957	-0.7721	9	0.23891	T	0.37	0.3269	2.3258	0.04222	0.4168:0.324:0.1485:0.1106	.	116;116	B1AQ52;P09093	.;CEL3A_HUMAN	L	116;116;132	ENSP00000290122:S116L;ENSP00000363795:S116L	ENSP00000290122:S116L	S	+	2	0	CELA3A	22204861	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.406000	0.07187	-1.905000	0.01090	-2.719000	0.00132	TCG		0.582	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		20	128	0	0	0	1	0	20	128				
ARL8A	127829	broad.mit.edu	37	1	202104633	202104633	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:202104633G>A	ENST00000272217.2	-	5	562	c.394C>T	c.(394-396)Cga>Tga	p.R132*	ARL8A_ENST00000486225.1_5'UTR	NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	132					chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|mitotic nuclear division (GO:0007067)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GGAAGGTCTCGCTTGTTACCC	0.547											OREG0012976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000272217.2																			0				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						c.(394-396)Cga>Tga		ADP-ribosylation factor-like 8A							143.0	143.0	143.0					1																	202104633		2203	4300	6503	SO:0001587	stop_gained	127829				cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity	g.chr1:202104633G>A	BC015408	CCDS1421.1, CCDS73004.1	1q32.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000143862	ENSG00000143862		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25192	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10B"""	ARL10B		8889548	Standard	NM_001256129		Approved	FLJ45195, Gie2	uc001gxk.2	Q96BM9	OTTHUMG00000035923	ENST00000272217.2:c.394C>T	1.37:g.202104633G>A	ENSP00000272217:p.Arg132*		OREG0012976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2126	ARL8A_ENST00000486225.1_5'UTR	p.R132*	NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN			5	562	-			132					B3KXD0	Nonsense_Mutation	SNP	ENST00000272217.2	37	c.394C>T	CCDS1421.1	.	.	.	.	.	.	.	.	.	.	G	38	6.961314	0.97964	.	.	ENSG00000143862	ENST00000272217	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-7.7684	13.4022	0.60889	0.0:0.0:0.8427:0.1573	.	.	.	.	X	132	.	ENSP00000272217:R132X	R	-	1	2	ARL8A	200371256	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.333000	0.52090	2.334000	0.79466	0.305000	0.20034	CGA		0.547	ARL8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087493.1	NM_138795		23	166	0	0	0	1	0	23	166				
AHNAK2	113146	broad.mit.edu	37	14	105420866	105420866	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr14:105420866G>A	ENST00000333244.5	-	7	1041	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	308						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCTCTTGGCGCTCCACCGTG	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(922-924)Cgc>Tgc		AHNAK nucleoprotein 2							29.0	32.0	31.0					14																	105420866		2131	4239	6370	SO:0001583	missense	113146					nucleus		g.chr14:105420866G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.922C>T	14.37:g.105420866G>A	ENSP00000353114:p.Arg308Cys						p.R308C	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1041	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	308					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.922C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	15.58	2.876482	0.51801	.	.	ENSG00000185567	ENST00000333244	T	0.02763	4.17	4.61	1.5	0.22942	.	2.771980	0.02483	U	0.088689	T	0.08403	0.0209	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.27054	-1.0085	10	0.62326	D	0.03	.	6.4598	0.21950	0.0:0.4358:0.3667:0.1975	.	308	Q8IVF2	AHNK2_HUMAN	C	308	ENSP00000353114:R308C	ENSP00000353114:R308C	R	-	1	0	AHNAK2	104491911	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.060000	0.11712	0.070000	0.16634	0.650000	0.86243	CGC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		10	17	0	0	0	1	0	10	17				
MAGT1	84061	broad.mit.edu	37	X	77130965	77130965	+	Missense_Mutation	SNP	A	A	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:77130965A>T	ENST00000373336.3	-	2	261	c.232T>A	c.(232-234)Ttc>Atc	p.F78I	MAGT1_ENST00000358075.6_Missense_Mutation_p.F110I			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	78	Thioredoxin.				cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AGAGCAGTGAACATGACGATA	0.398																																						ENST00000358075.6																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(328-330)Ttc>Atc		magnesium transporter 1							240.0	223.0	228.0					X																	77130965		2203	4296	6499	SO:0001583	missense	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77130965A>T		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.232T>A	X.37:g.77130965A>T	ENSP00000362433:p.Phe78Ile					MAGT1_ENST00000373336.3_Missense_Mutation_p.F78I	p.F110I	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN			2	414	-			78					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000373336.3	37	c.328T>A		.	.	.	.	.	.	.	.	.	.	A	33	5.209181	0.95069	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.46451	0.87;0.87	5.69	5.69	0.88448	Thioredoxin-like fold (2);	0.000000	0.85682	U	0.000000	T	0.60869	0.2302	M	0.87971	2.92	0.80722	D	1	P;P	0.51933	0.901;0.949	P;P	0.52189	0.546;0.692	T	0.66324	-0.5952	10	0.41790	T	0.15	-8.1509	14.9683	0.71213	1.0:0.0:0.0:0.0	.	78;110	Q9H0U3;B4DH58	MAGT1_HUMAN;.	I	110;78	ENSP00000354649:F110I;ENSP00000362433:F78I	ENSP00000354649:F110I	F	-	1	0	MAGT1	77017621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.859000	0.92264	1.917000	0.55516	0.486000	0.48141	TTC		0.398	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121		46	336	0	0	0	1	0	46	336				
SERPINH1	871	broad.mit.edu	37	11	75277979	75277979	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:75277979G>A	ENST00000524558.1	+	2	2020	c.585G>A	c.(583-585)acG>acA	p.T195T	SERPINH1_ENST00000358171.3_Silent_p.T195T|SERPINH1_ENST00000533603.1_Silent_p.T195T|SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000530284.1_Silent_p.T195T			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	195					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					TGGAGCGCACGGACGGCGCCC	0.662																																						ENST00000524558.1																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15						c.(583-585)acG>acA		serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)							33.0	32.0	32.0					11																	75277979		2199	4289	6488	SO:0001819	synonymous_variant	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75277979G>A	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.585G>A	11.37:g.75277979G>A						SERPINH1_ENST00000533603.1_Silent_p.T195T|SERPINH1_ENST00000358171.3_Silent_p.T195T|SERPINH1_ENST00000530284.1_Silent_p.T195T	p.T195T			P50454	SERPH_HUMAN			2	2020	+	Ovarian(111;0.11)		195					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	ENST00000524558.1	37	c.585G>A	CCDS8239.1																																																																																				0.662	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		9	47	0	0	0	1	0	9	47				
PACS2	23241	broad.mit.edu	37	14	105848855	105848855	+	Silent	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr14:105848855C>G	ENST00000325438.8	+	14	1947	c.1443C>G	c.(1441-1443)ctC>ctG	p.L481L	PACS2_ENST00000551743.1_5'Flank|PACS2_ENST00000458164.2_Silent_p.L485L|PACS2_ENST00000547217.1_Silent_p.L451L|PACS2_ENST00000430725.2_Silent_p.L406L|PACS2_ENST00000447393.1_Silent_p.L485L			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	481					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACCACATCCTCATCTCCGATG	0.587																																						ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(1453-1455)ctC>ctG		phosphofurin acidic cluster sorting protein 2							284.0	229.0	248.0					14																	105848855		2203	4300	6503	SO:0001819	synonymous_variant	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105848855C>G	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1443C>G	14.37:g.105848855C>G						PACS2_ENST00000325438.8_Silent_p.L481L|PACS2_ENST00000547217.1_Silent_p.L451L|PACS2_ENST00000430725.2_Silent_p.L406L|PACS2_ENST00000458164.2_Silent_p.L485L	p.L485L	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	14	1630	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	481					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Silent	SNP	ENST00000325438.8	37	c.1455C>G	CCDS32168.1																																																																																				0.587	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		42	221	0	0	0	1	0	42	221				
REG3G	130120	broad.mit.edu	37	2	79253241	79253241	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:79253241C>G	ENST00000272324.5	+	2	206	c.22C>G	c.(22-24)Ccc>Gcc	p.P8A	REG3G_ENST00000409471.1_Missense_Mutation_p.P8A|REG3G_ENST00000393897.2_Missense_Mutation_p.P8A	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	8					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATGGCCCTGCCCAGTGTGTC	0.547																																						ENST00000272324.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(22-24)Ccc>Gcc		regenerating islet-derived 3 gamma							197.0	148.0	165.0					2																	79253241		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79253241C>G	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.22C>G	2.37:g.79253241C>G	ENSP00000272324:p.Pro8Ala					REG3G_ENST00000409471.1_Missense_Mutation_p.P8A|REG3G_ENST00000393897.2_Missense_Mutation_p.P8A	p.P8A	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN			2	206	+			8					A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.22C>G	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	9.739	1.164469	0.21538	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.16324	4.35;4.35;2.35	4.08	-2.7	0.06004	.	1.790780	0.03121	N	0.163745	T	0.18087	0.0434	M	0.82517	2.595	0.09310	N	1	P;B	0.35745	0.518;0.028	B;B	0.30316	0.114;0.015	T	0.21177	-1.0253	10	0.32370	T	0.25	.	1.0876	0.01656	0.1562:0.3055:0.1438:0.3945	.	8;8	Q3SYE6;Q6UW15	.;REG3G_HUMAN	A	8	ENSP00000377475:P8A;ENSP00000272324:P8A;ENSP00000387105:P8A	ENSP00000272324:P8A	P	+	1	0	REG3G	79106749	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-1.755000	0.01814	-0.585000	0.05905	0.650000	0.86243	CCC		0.547	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		8	49	0	0	0	1	0	8	49				
ECEL1	9427	broad.mit.edu	37	2	233349770	233349770	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:233349770C>T	ENST00000304546.1	-	4	1097	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	ECEL1_ENST00000409941.1_Missense_Mutation_p.R296Q	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	296					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)	p.R296Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTGAGCACTCGCTCCATGAA	0.642																																						ENST00000304546.1																			1	Substitution - Missense(1)	p.R296Q(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(886-888)cGa>cAa		endothelin converting enzyme-like 1							66.0	62.0	64.0					2																	233349770		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233349770C>T	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.887G>A	2.37:g.233349770C>T	ENSP00000302051:p.Arg296Gln					ECEL1_ENST00000409941.1_Missense_Mutation_p.R296Q	p.R296Q	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	4	1097	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	296					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.887G>A	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380714	0.42207	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	D;D	0.81821	-1.54;-1.54	5.36	5.36	0.76844	Peptidase M13 (1);	0.056389	0.64402	D	0.000006	T	0.60702	0.2289	N	0.12637	0.245	0.51012	D	0.999903	D;B	0.56968	0.978;0.106	B;B	0.40982	0.345;0.036	T	0.64618	-0.6365	10	0.06757	T	0.87	-28.2133	12.4392	0.55615	0.0:0.923:0.0:0.077	.	296;296	O95672-2;O95672	.;ECEL1_HUMAN	Q	296	ENSP00000302051:R296Q;ENSP00000386333:R296Q	ENSP00000302051:R296Q	R	-	2	0	ECEL1	233058014	0.998000	0.40836	0.997000	0.53966	0.917000	0.54804	3.698000	0.54771	2.513000	0.84729	0.462000	0.41574	CGA		0.642	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		22	43	0	0	0	1	0	22	43				
EMX2	2018	broad.mit.edu	37	10	119303089	119303089	+	Missense_Mutation	SNP	C	C	T	rs532461355		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:119303089C>T	ENST00000553456.3	+	1	1135	c.311C>T	c.(310-312)tCg>tTg	p.S104L	EMX2_ENST00000442245.4_Missense_Mutation_p.S104L|EMX2OS_ENST00000450314.2_RNA|EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	104				S -> P (in Ref. 3; BAB70842). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TCCTCGCACTCGCCACACCCC	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		9840	0.0		0.0	False		,,,				2504	0.001					ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(310-312)tCg>tTg		empty spiracles homeobox 2							63.0	60.0	61.0					10																	119303089		2203	4300	6503	SO:0001583	missense	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119303089C>T	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.311C>T	10.37:g.119303089C>T	ENSP00000450962:p.Ser104Leu					EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.S104L	p.S104L	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	1	1135	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	104	S -> P (in Ref. 3; BAB70842).				G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	c.311C>T	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	C	4.904	0.167928	0.09339	.	.	ENSG00000170370;ENSG00000258614	ENST00000369201;ENST00000553456	D	0.91464	-2.85	5.78	5.78	0.91487	.	0.104593	0.64402	D	0.000003	T	0.78635	0.4314	N	0.14661	0.345	0.58432	D	0.999998	P;B	0.46327	0.876;0.448	B;B	0.25614	0.062;0.023	T	0.79727	-0.1682	10	0.11485	T	0.65	-18.3116	20.0059	0.97434	0.0:1.0:0.0:0.0	.	104;104	G3V305;Q04743	.;EMX2_HUMAN	L	104	ENSP00000450962:S104L	ENSP00000358202:S104L	S	+	2	0	AC005871.1;EMX2	119293079	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.994000	0.63901	2.719000	0.93026	0.551000	0.68910	TCG		0.701	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		7	79	0	0	0	1	0	7	79				
IGHV4-39	28394	broad.mit.edu	37	14	106878021	106878021	+	RNA	SNP	G	G	T	rs587658234		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr14:106878021G>T	ENST00000390619.2	-	0	105									immunoglobulin heavy variable 4-39																		TCTGGGAGCCGCCACCAGCAG	0.502																																						ENST00000390619.2																			0																				62.0	52.0	55.0					14																	106878021		2006	4170	6176			28394							g.chr14:106878021G>T	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106878021G>T														0	105	-									RNA	SNP	ENST00000390619.2	37																																																																																						0.502	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		13	45	1	0	7.03913e-09	1	7.62572e-09	13	45				
TCP11L2	255394	broad.mit.edu	37	12	106740092	106740092	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:106740092G>T	ENST00000299045.3	+	10	1518	c.1344G>T	c.(1342-1344)agG>agT	p.R448S		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	448										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ACATGAGAAGGCTACTTTGTC	0.383																																						ENST00000299045.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(1342-1344)agG>agT		t-complex 11, testis-specific-like 2							60.0	55.0	57.0					12																	106740092		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106740092G>T	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.1344G>T	12.37:g.106740092G>T	ENSP00000299045:p.Arg448Ser						p.R448S	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN			10	1518	+			448					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.1344G>T	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.292768	0.00245	.	.	ENSG00000166046	ENST00000299045	T	0.10477	2.87	5.69	0.0938	0.14478	.	0.507384	0.23865	N	0.043820	T	0.01661	0.0053	N	0.00308	-1.67	0.53688	D	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.43360	-0.9396	10	0.05436	T	0.98	-3.7466	3.5832	0.07961	0.1019:0.4769:0.0997:0.3215	.	448	Q8N4U5	T11L2_HUMAN	S	448	ENSP00000299045:R448S	ENSP00000299045:R448S	R	+	3	2	TCP11L2	105264222	0.984000	0.35163	0.892000	0.35008	0.962000	0.63368	0.073000	0.14640	-0.115000	0.11915	-0.729000	0.03580	AGG		0.383	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		16	46	1	0	9.16793e-09	1	9.88855e-09	16	46				
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:7578275G>A	ENST00000269305.4	-	6	763	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATAAGATGCTGAGGAGGGGCC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(574-576)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							89.0	80.0	83.0					17																	7578275		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578275G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.574C>T	17.37:g.7578275G>A	ENSP00000269305:p.Gln192*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*	p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	706	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	192		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.574C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	35	0	0	0	1	0	18	35				
KLF17	128209	broad.mit.edu	37	1	44595051	44595051	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:44595051G>C	ENST00000372299.3	+	2	166	c.108G>C	c.(106-108)ttG>ttC	p.L36F	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	36					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CGCCCATCTTGAACATGTCTT	0.502																																						ENST00000372299.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(106-108)ttG>ttC		Kruppel-like factor 17							124.0	115.0	118.0					1																	44595051		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595051G>C	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.108G>C	1.37:g.44595051G>C	ENSP00000361373:p.Leu36Phe					KLF17_ENST00000476802.1_3'UTR	p.L36F	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN			2	166	+	Acute lymphoblastic leukemia(166;0.155)		36					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.108G>C	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716028	0.48622	.	.	ENSG00000171872	ENST00000372299	T	0.10477	2.87	4.78	3.87	0.44632	.	0.689873	0.12094	N	0.500117	T	0.18800	0.0451	L	0.32530	0.975	0.09310	N	1	D	0.71674	0.998	P	0.62649	0.905	T	0.08911	-1.0699	10	0.54805	T	0.06	.	8.9844	0.35986	0.0976:0.0:0.9024:0.0	.	36	Q5JT82	KLF17_HUMAN	F	36	ENSP00000361373:L36F	ENSP00000361373:L36F	L	+	3	2	KLF17	44367638	0.001000	0.12720	0.004000	0.12327	0.008000	0.06430	0.538000	0.23160	1.629000	0.50426	0.650000	0.86243	TTG		0.502	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		47	73	0	0	0	1	0	47	73				
SORCS3	22986	broad.mit.edu	37	10	106960935	106960935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:106960935C>T	ENST00000369701.3	+	16	2412	c.2185C>T	c.(2185-2187)Cag>Tag	p.Q729*	SORCS3_ENST00000369699.4_Nonsense_Mutation_p.Q15*	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	729					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCCAGGAGCTCAGTGTGCCCT	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2185-2187)Cag>Tag		sortilin-related VPS10 domain containing receptor 3							121.0	105.0	111.0					10																	106960935		2203	4300	6503	SO:0001587	stop_gained	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106960935C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2185C>T	10.37:g.106960935C>T	ENSP00000358715:p.Gln729*					SORCS3_ENST00000369699.4_Nonsense_Mutation_p.Q15*	p.Q729*	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	16	2412	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	729					Q5VXF9|Q9NQJ2	Nonsense_Mutation	SNP	ENST00000369701.3	37	c.2185C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	41	8.723057	0.98929	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	.	.	.	5.78	5.78	0.91487	.	0.199274	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2023	0.65712	0.0:0.9291:0.0:0.0709	.	.	.	.	X	729;15	.	.	Q	+	1	0	SORCS3	106950925	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	1.469000	0.35343	2.735000	0.93741	0.650000	0.86243	CAG		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		21	94	0	0	0	1	0	21	94				
NFE2L3	9603	broad.mit.edu	37	7	26223354	26223354	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:26223354C>G	ENST00000056233.3	+	3	1043	c.784C>G	c.(784-786)Ctg>Gtg	p.L262V		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	262					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TTCTTTCTCTCTGGAAGACTT	0.413																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(784-786)Ctg>Gtg		nuclear factor, erythroid 2-like 3							136.0	128.0	130.0					7																	26223354		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26223354C>G	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.784C>G	7.37:g.26223354C>G	ENSP00000056233:p.Leu262Val						p.L262V	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			3	1043	+			262					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.784C>G	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769097	0.49680	.	.	ENSG00000050344	ENST00000056233	T	0.27890	1.64	5.83	0.667	0.17907	.	0.942082	0.08778	N	0.895216	T	0.25306	0.0615	M	0.62016	1.91	0.35462	D	0.796569	B	0.29531	0.247	B	0.23716	0.048	T	0.40308	-0.9570	10	0.72032	D	0.01	-0.0433	0.7458	0.00982	0.3017:0.3422:0.1473:0.2088	.	262	Q9Y4A8	NF2L3_HUMAN	V	262	ENSP00000056233:L262V	ENSP00000056233:L262V	L	+	1	2	NFE2L3	26189879	0.111000	0.22076	0.951000	0.38953	0.937000	0.57800	0.172000	0.16704	0.052000	0.16007	0.563000	0.77884	CTG		0.413	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			16	111	0	0	0	1	0	16	111				
IL1RAPL1	11141	broad.mit.edu	37	X	29973740	29973740	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:29973740G>A	ENST00000378993.1	+	11	2567	c.1894G>A	c.(1894-1896)Gta>Ata	p.V632I	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.V632I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	632	Interaction with NCS1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGAGTACGACGTACCTCCTAC	0.507																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1894-1896)Gta>Ata		interleukin 1 receptor accessory protein-like 1							88.0	44.0	59.0					X																	29973740		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973740G>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1894G>A	X.37:g.29973740G>A	ENSP00000368278:p.Val632Ile					IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.V632I	p.V632I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			11	2567	+			632			Interaction with NCS1.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1894G>A	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.544062	0.00934	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.03772	3.81;3.81	5.25	5.25	0.73442	.	0.121926	0.56097	D	0.000033	T	0.02848	0.0085	N	0.08118	0	0.28591	N	0.90965	B	0.09022	0.002	B	0.04013	0.001	T	0.39901	-0.9591	9	.	.	.	.	11.5008	0.50437	0.0845:0.0:0.9155:0.0	.	632	Q9NZN1	IRPL1_HUMAN	I	632	ENSP00000368278:V632I;ENSP00000305200:V632I	.	V	+	1	0	IL1RAPL1	29883661	1.000000	0.71417	0.995000	0.50966	0.485000	0.33311	2.969000	0.49232	2.174000	0.68829	0.600000	0.82982	GTA		0.507	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		10	22	0	0	0	1	0	10	22				
RPL32	6161	broad.mit.edu	37	3	12881680	12881680	+	Silent	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:12881680C>T	ENST00000429711.2	-	2	156	c.57G>A	c.(55-57)aaG>aaA	p.K19K	RPL32_ENST00000396957.1_Silent_p.K19K|RPL32_ENST00000273223.6_Silent_p.K19K|RPL32_ENST00000396953.2_Silent_p.K19K|SNORA7A_ENST00000384765.1_RNA|RPL32_ENST00000435983.1_Silent_p.K19K	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	19					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)|RNA metabolic process (GO:0016070)|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)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GCCGGATGAACTTCTTGGTTC	0.502																																						ENST00000429711.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(55-57)aaG>aaA		ribosomal protein L32							180.0	202.0	195.0					3																	12881680		2203	4300	6503	SO:0001819	synonymous_variant	6161				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr3:12881680C>T	CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"""L ribosomal proteins"""	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.57G>A	3.37:g.12881680C>T						RPL32_ENST00000396953.2_Silent_p.K19K|RPL32_ENST00000273223.6_Silent_p.K19K|RPL32_ENST00000396957.1_Silent_p.K19K|RPL32_ENST00000435983.1_Silent_p.K19K	p.K19K	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN			2	156	-			19					B2R4Q3|P02433	Silent	SNP	ENST00000429711.2	37	c.57G>A	CCDS2614.1																																																																																				0.502	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	NM_000994		84	242	0	0	0	1	0	84	242				
DOCK1	1793	broad.mit.edu	37	10	129046280	129046280	+	Silent	SNP	C	C	T	rs548775401		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:129046280C>T	ENST00000280333.6	+	28	2902	c.2793C>T	c.(2791-2793)ttC>ttT	p.F931F	DOCK1_ENST00000484400.1_3'UTR	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	931					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.F931F(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGGGAAACTTCGTGGCTTGCA	0.403																																						ENST00000280333.6																			1	Substitution - coding silent(1)	p.F931F(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(2791-2793)ttC>ttT		dedicator of cytokinesis 1							80.0	76.0	77.0					10																	129046280		1899	4121	6020	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129046280C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2793C>T	10.37:g.129046280C>T						DOCK1_ENST00000484400.1_3'UTR	p.F931F	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	28	2902	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	931					A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.2793C>T																																																																																					0.403	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		7	28	0	0	0	1	0	7	28				
HIST2H2BE	8349	broad.mit.edu	37	1	149857978	149857978	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:149857978G>C	ENST00000369155.2	-	1	254	c.213C>G	c.(211-213)ttC>ttG	p.F71L	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	71					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F71L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGATGCGCTCGAAGATGTCGT	0.622																																						ENST00000369155.2																			1	Substitution - Missense(1)	p.F71L(1)	breast(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(211-213)ttC>ttG		histone cluster 2, H2be							132.0	121.0	125.0					1																	149857978		2203	4297	6500	SO:0001583	missense	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149857978G>C	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.213C>G	1.37:g.149857978G>C	ENSP00000358151:p.Phe71Leu						p.F71L	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	254	-	Breast(34;0.0124)|all_hematologic(923;0.127)		71					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	c.213C>G	CCDS936.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452078	0.63290	.	.	ENSG00000184678	ENST00000369155	T	0.63744	-0.06	5.89	2.98	0.34508	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	M	0.86268	2.805	0.30270	N	0.792314	P	0.44044	0.825	P	0.49752	0.621	T	0.59716	-0.7402	10	0.66056	D	0.02	.	8.9737	0.35921	0.2917:0.0:0.7083:0.0	.	71	Q16778	H2B2E_HUMAN	L	71	ENSP00000358151:F71L	ENSP00000358151:F71L	F	-	3	2	HIST2H2BE	148124602	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.842000	0.48230	0.389000	0.25086	0.586000	0.80456	TTC		0.622	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		27	183	0	0	0	1	0	27	183				
MTBP	27085	broad.mit.edu	37	8	121535550	121535550	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:121535550G>T	ENST00000305949.1	+	22	2734	c.2689G>T	c.(2689-2691)Gta>Tta	p.V897L		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	897	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GATTGACTGGGTATTAGAAAA	0.279																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2689-2691)Gta>Tta		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							94.0	101.0	99.0					8																	121535550		2196	4246	6442	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121535550G>T		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2689G>T	8.37:g.121535550G>T	ENSP00000303398:p.Val897Leu						p.V897L	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		22	2734	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		897			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.2689G>T	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591401	0.66219	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.69	5.69	0.88448	.	0.313653	0.29053	N	0.013283	T	0.57489	0.2057	M	0.62723	1.935	0.58432	D	0.999993	P	0.48503	0.911	B	0.40329	0.326	T	0.57010	-0.7884	9	0.25751	T	0.34	-9.8954	19.8199	0.96589	0.0:0.0:1.0:0.0	.	897	Q96DY7	MTBP_HUMAN	L	897	.	ENSP00000303398:V897L	V	+	1	0	MTBP	121604731	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.072000	0.71238	2.677000	0.91161	0.655000	0.94253	GTA		0.279	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		5	312	1	0	0.00116845	1	0.00118768	5	312				
SMCHD1	23347	broad.mit.edu	37	18	2688459	2688459	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr18:2688459G>T	ENST00000320876.6	+	6	1044	c.706G>T	c.(706-708)Ggt>Tgt	p.G236C	SMCHD1_ENST00000261598.8_Missense_Mutation_p.G236C|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	236					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTCCTATTTTGGTGTTGGGGG	0.338																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(706-708)Ggt>Tgt		structural maintenance of chromosomes flexible hinge domain containing 1							101.0	96.0	97.0					18																	2688459		1866	4099	5965	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2688459G>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.706G>T	18.37:g.2688459G>T	ENSP00000326603:p.Gly236Cys					SMCHD1_ENST00000261598.8_Missense_Mutation_p.G236C	p.G236C	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			6	1044	+			236					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.706G>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714519	0.89112	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.99891	-7.56;-7.56	5.08	5.08	0.68730	ATPase-like, ATP-binding domain (2);	0.060687	0.64402	D	0.000003	D	0.99900	0.9952	M	0.88377	2.95	0.50813	D	0.999893	D	0.89917	1.0	D	0.97110	1.0	D	0.96178	0.9128	10	0.87932	D	0	.	18.8289	0.92130	0.0:0.0:1.0:0.0	.	236	A6NHR9	SMHD1_HUMAN	C	236	ENSP00000326603:G236C;ENSP00000261598:G236C	ENSP00000261598:G236C	G	+	1	0	SMCHD1	2678459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.927000	0.92846	2.502000	0.84385	0.655000	0.94253	GGT		0.338	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			14	142	1	0	2.23348e-06	1	2.36768e-06	14	142				
TESK1	7016	broad.mit.edu	37	9	35608973	35608973	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:35608973G>A	ENST00000336395.5	+	10	1365	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E	CD72_ENST00000490239.1_5'Flank|TESK1_ENST00000498522.1_3'UTR|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	372					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAACTGGGGGGACAATCTG	0.612																																						ENST00000336395.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1114-1116)gGg>gAg		testis-specific kinase 1							69.0	75.0	73.0					9																	35608973		2203	4300	6503	SO:0001583	missense	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35608973G>A	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1115G>A	9.37:g.35608973G>A	ENSP00000338127:p.Gly372Glu					TESK1_ENST00000498522.1_3'UTR	p.G372E	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		10	1365	+			372					Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	c.1115G>A	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168916	0.38315	.	.	ENSG00000107140	ENST00000336395	T	0.64803	-0.12	5.35	5.35	0.76521	.	0.000000	0.45867	D	0.000328	T	0.64046	0.2563	L	0.52011	1.625	0.32216	N	0.575902	P;D	0.54207	0.846;0.965	B;P	0.47528	0.25;0.549	T	0.72887	-0.4156	10	0.51188	T	0.08	-14.7578	16.5575	0.84490	0.0:0.0:1.0:0.0	.	290;372	B4DQQ3;Q15569	.;TESK1_HUMAN	E	372	ENSP00000338127:G372E	ENSP00000338127:G372E	G	+	2	0	TESK1	35598973	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.539000	0.53604	2.501000	0.84356	0.561000	0.74099	GGG		0.612	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		22	109	0	0	0	1	0	22	109				
SPI1	6688	broad.mit.edu	37	11	47399866	47399866	+	Silent	SNP	G	G	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:47399866G>T	ENST00000378538.3	-	1	261	c.39C>A	c.(37-39)gtC>gtA	p.V13V	SPI1_ENST00000227163.4_Silent_p.V13V|SPI1_ENST00000533968.1_Silent_p.V13V|SPI1_ENST00000533030.1_Silent_p.V13V	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	13					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		TCACAGGGGGGACGAGGGGAA	0.682																																						ENST00000378538.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(37-39)gtC>gtA		spleen focus forming virus (SFFV) proviral integration oncogene							53.0	53.0	53.0					11																	47399866		2201	4298	6499	SO:0001819	synonymous_variant	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47399866G>T	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.39C>A	11.37:g.47399866G>T						SPI1_ENST00000533030.1_Silent_p.V13V|SPI1_ENST00000533968.1_Silent_p.V13V|SPI1_ENST00000227163.4_Silent_p.V13V	p.V13V	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN		Lung(87;0.0967)	1	261	-			13						Silent	SNP	ENST00000378538.3	37	c.39C>A	CCDS7933.2																																																																																				0.682	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		4	12	1	0	1.23904e-05	1	1.30788e-05	4	12				
MCM8	84515	broad.mit.edu	37	20	5948594	5948594	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr20:5948594G>C	ENST00000378896.3	+	10	1523	c.1146G>C	c.(1144-1146)ttG>ttC	p.L382F	MCM8_ENST00000378883.1_Missense_Mutation_p.L382F|MCM8_ENST00000378886.2_Missense_Mutation_p.L382F|MCM8_ENST00000265187.4_Missense_Mutation_p.L366F	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	382					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ATGGAATGTTGATGGAGTTCT	0.348																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(1144-1146)ttG>ttC		minichromosome maintenance complex component 8							158.0	164.0	162.0					20																	5948594		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5948594G>C	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1146G>C	20.37:g.5948594G>C	ENSP00000368174:p.Leu382Phe					MCM8_ENST00000265187.4_Missense_Mutation_p.L366F|MCM8_ENST00000378886.2_Missense_Mutation_p.L382F|MCM8_ENST00000378883.1_Missense_Mutation_p.L382F	p.L382F	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			10	1523	+			382					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.1146G>C	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	7.859	0.725588	0.15439	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.14266	4.07;4.02;2.52;4.11	5.75	2.12	0.27331	.	0.475314	0.22399	N	0.060567	T	0.05318	0.0141	N	0.14661	0.345	0.23425	N	0.997703	B;B;B;B	0.09022	0.001;0.002;0.001;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.002	T	0.31194	-0.9952	10	0.18710	T	0.47	-2.9091	0.6301	0.00793	0.216:0.1865:0.3496:0.2479	.	382;382;366;382	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	F	382;382;382;366	ENSP00000368174:L382F;ENSP00000368161:L382F;ENSP00000368164:L382F;ENSP00000265187:L366F	ENSP00000265187:L366F	L	+	3	2	MCM8	5896594	0.925000	0.31364	0.990000	0.47175	0.917000	0.54804	0.705000	0.25675	1.439000	0.47511	0.655000	0.94253	TTG		0.348	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		16	128	0	0	0	1	0	16	128				
TTN	7273	broad.mit.edu	37	2	179424238	179424238	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:179424238C>G	ENST00000591111.1	-	276	81922	c.81698G>C	c.(81697-81699)gGa>gCa	p.G27233A	TTN_ENST00000589042.1_Missense_Mutation_p.G28874A|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20001A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G19809A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26306A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G19934A|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27233	Fibronectin type-III 98. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CACTGGTGCTCCACCATCGTT	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(86620-86622)gGa>gCa		titin							134.0	130.0	131.0					2																	179424238		1935	4152	6087	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424238C>G	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.81698G>C	2.37:g.179424238C>G	ENSP00000465570:p.Gly27233Ala					TTN_ENST00000342175.6_Missense_Mutation_p.G20001A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27233A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G19809A|TTN_ENST00000359218.5_Missense_Mutation_p.G19934A|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26306A	p.G28874A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	86845	-			27233			Fibronectin type-III 110.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.86621G>C		.	.	.	.	.	.	.	.	.	.	C	15.57	2.873763	0.51695	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.77	5.77	0.91146	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77343	0.4116	M	0.70842	2.15	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.87578	0.998;0.998;0.998;0.994	T	0.77797	-0.2453	9	0.87932	D	0	.	20.3473	0.98799	0.0:1.0:0.0:0.0	.	19809;19934;20001;27233	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	26306;19809;20001;19934;19806	ENSP00000343764:G26306A;ENSP00000434586:G19809A;ENSP00000340554:G20001A;ENSP00000352154:G19934A	ENSP00000340554:G20001A	G	-	2	0	TTN	179132484	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GGA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	107	0	0	0	1	0	13	107				
KRT2	3849	broad.mit.edu	37	12	53044254	53044254	+	Silent	SNP	G	G	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:53044254G>T	ENST00000309680.3	-	2	690	c.669C>A	c.(667-669)atC>atA	p.I223I		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	223	Linker 1.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GCTCCAGGTTGATGGGGCGGG	0.507																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(667-669)atC>atA		keratin 2							149.0	142.0	145.0					12																	53044254		2203	4300	6503	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53044254G>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.669C>A	12.37:g.53044254G>T							p.I223I	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	2	690	-			223			Linker 1.|Rod.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.669C>A	CCDS8835.1																																																																																				0.507	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		24	210	1	0	6.36457e-07	1	6.80541e-07	24	210				
SETDB2	83852	broad.mit.edu	37	13	50062507	50062507	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr13:50062507G>C	ENST00000317257.8	+	13	2519	c.1694G>C	c.(1693-1695)aGa>aCa	p.R565T	SETDB2_ENST00000354234.4_Missense_Mutation_p.R553T	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	565	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ACTAAATATAGAGAAGAAACT	0.363																																						ENST00000354234.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1657-1659)aGa>aCa		SET domain, bifurcated 2							70.0	75.0	73.0					13																	50062507		2203	4300	6503	SO:0001583	missense	83852				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	g.chr13:50062507G>C	AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.1694G>C	13.37:g.50062507G>C	ENSP00000326477:p.Arg565Thr					SETDB2_ENST00000317257.8_Missense_Mutation_p.R565T	p.R553T	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	12	2564	+		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	565			SET.		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	ENST00000317257.8	37	c.1658G>C	CCDS9417.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303659	0.40795	.	.	ENSG00000136169	ENST00000354234;ENST00000317257	D;D	0.87334	-2.24;-2.22	5.52	1.15	0.20763	SET domain (3);	0.546778	0.19698	N	0.108115	T	0.79701	0.4491	L	0.49350	1.555	0.36450	D	0.866001	P;P	0.40534	0.525;0.72	B;B	0.37601	0.165;0.254	T	0.76072	-0.3093	10	0.51188	T	0.08	.	5.3262	0.15908	0.311:0.1521:0.5369:0.0	.	553;565	Q96T68-2;Q96T68	.;SETB2_HUMAN	T	553;565	ENSP00000346175:R553T;ENSP00000326477:R565T	ENSP00000326477:R565T	R	+	2	0	SETDB2	48960508	1.000000	0.71417	0.985000	0.45067	0.895000	0.52256	0.809000	0.27168	0.268000	0.21939	0.655000	0.94253	AGA		0.363	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915		24	125	0	0	0	1	0	24	125				
SPOPL	339745	broad.mit.edu	37	2	139316854	139316854	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:139316854C>G	ENST00000280098.4	+	7	1040	c.661C>G	c.(661-663)Cga>Gga	p.R221G		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	221	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TGTTACAGCTCGATCTCCAGT	0.299																																						ENST00000280098.4																			0				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21						c.(661-663)Cga>Gga		speckle-type POZ protein-like							58.0	61.0	60.0					2																	139316854		2203	4300	6503	SO:0001583	missense	339745					nucleus		g.chr2:139316854C>G		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.661C>G	2.37:g.139316854C>G	ENSP00000280098:p.Arg221Gly						p.R221G	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	7	1040	+			221			BTB.			Missense_Mutation	SNP	ENST00000280098.4	37	c.661C>G	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708978	0.68615	.	.	ENSG00000144228	ENST00000280098	T	0.69926	-0.44	4.81	4.81	0.61882	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.82779	0.5111	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84247	0.0475	9	.	.	.	0.0052	18.249	0.89996	0.0:1.0:0.0:0.0	.	221	Q6IQ16	SPOPL_HUMAN	G	221	ENSP00000280098:R221G	.	R	+	1	2	SPOPL	139033324	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.831000	0.62752	2.377000	0.81083	0.585000	0.79938	CGA		0.299	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			11	42	0	0	0	1	0	11	42				
NLRP3	114548	broad.mit.edu	37	1	247587769	247587769	+	Missense_Mutation	SNP	C	C	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:247587769C>A	ENST00000336119.3	+	3	1770	c.1024C>A	c.(1024-1026)Ccc>Acc	p.P342T	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.P342T|NLRP3_ENST00000391827.2_Missense_Mutation_p.P342T|NLRP3_ENST00000366496.2_Missense_Mutation_p.P342T|NLRP3_ENST00000366497.2_Missense_Mutation_p.P342T|NLRP3_ENST00000391828.3_Missense_Mutation_p.P342T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	342	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGCTGCTTCCCGAGGCCTC	0.587																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1024-1026)Ccc>Acc		NLR family, pyrin domain containing 3							58.0	61.0	60.0					1																	247587769		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587769C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1024C>A	1.37:g.247587769C>A	ENSP00000337383:p.Pro342Thr					NLRP3_ENST00000391827.2_Missense_Mutation_p.P342T|NLRP3_ENST00000391828.3_Missense_Mutation_p.P342T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.P342T|NLRP3_ENST00000348069.2_Missense_Mutation_p.P342T|NLRP3_ENST00000366496.2_Missense_Mutation_p.P342T	p.P342T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1804	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	342			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1024C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857384	0.51376	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	3.84	3.84	0.44239	NACHT nucleoside triphosphatase (1);	0.000000	0.51477	D	0.000095	D	0.91696	0.7375	H	0.95574	3.69	0.50313	D	0.99986	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.997;0.999;1.0	D	0.93033	0.6450	10	0.87932	D	0	.	11.5521	0.50726	0.0:1.0:0.0:0.0	.	342;342;342;342;342	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	T	342	ENSP00000375704:P342T;ENSP00000355453:P342T;ENSP00000337383:P342T;ENSP00000294752:P342T;ENSP00000355452:P342T;ENSP00000375703:P342T	ENSP00000337383:P342T	P	+	1	0	NLRP3	245654392	0.855000	0.29742	0.200000	0.23457	0.405000	0.30901	3.869000	0.56062	2.436000	0.82500	0.563000	0.77884	CCC		0.587	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		39	66	1	0	4.01765e-15	1	4.51073e-15	39	66				
SLC4A7	9497	broad.mit.edu	37	3	27439195	27439195	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:27439195G>T	ENST00000295736.5	-	18	2726	c.2656C>A	c.(2656-2658)Cat>Aat	p.H886N	SLC4A7_ENST00000388777.4_Missense_Mutation_p.H436N|SLC4A7_ENST00000435667.2_Missense_Mutation_p.H771N|SLC4A7_ENST00000454389.1_Missense_Mutation_p.H895N|SLC4A7_ENST00000428386.1_Missense_Mutation_p.H762N|SLC4A7_ENST00000445684.1_Missense_Mutation_p.H882N|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.H882N|SLC4A7_ENST00000455077.1_Missense_Mutation_p.H767N|SLC4A7_ENST00000446700.1_Missense_Mutation_p.H878N|SLC4A7_ENST00000437179.1_Missense_Mutation_p.H767N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	886					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TCAGGAACATGAAGTTTAGGA	0.343																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2656-2658)Cat>Aat		solute carrier family 4, sodium bicarbonate cotransporter, member 7							85.0	83.0	84.0					3																	27439195		2203	4295	6498	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27439195G>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2656C>A	3.37:g.27439195G>T	ENSP00000295736:p.His886Asn					SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Missense_Mutation_p.H882N|SLC4A7_ENST00000446700.1_Missense_Mutation_p.H878N|SLC4A7_ENST00000428386.1_Missense_Mutation_p.H762N|SLC4A7_ENST00000454389.1_Missense_Mutation_p.H895N|SLC4A7_ENST00000435667.2_Missense_Mutation_p.H771N|SLC4A7_ENST00000455077.1_Missense_Mutation_p.H767N|SLC4A7_ENST00000437179.1_Missense_Mutation_p.H767N|SLC4A7_ENST00000440156.1_Missense_Mutation_p.H882N|SLC4A7_ENST00000388777.4_Missense_Mutation_p.H436N	p.H886N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			18	2726	-			886					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.2656C>A	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708859	0.30322	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.57	4.69	0.59074	Bicarbonate transporter, C-terminal (1);	0.155613	0.56097	D	0.000023	T	0.59169	0.2174	N	0.04959	-0.14	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.09022	0.001;0.002;0.001;0.001;0.001;0.0;0.001;0.001;0.002	B;B;B;B;B;B;B;B;B	0.13407	0.006;0.006;0.002;0.009;0.002;0.001;0.005;0.004;0.006	T	0.53201	-0.8472	10	0.16420	T	0.52	.	16.5488	0.84458	0.0:0.1307:0.8693:0.0	.	882;767;878;882;895;436;762;886;767	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	N	437;886;762;895;882;767;878;767;882;771;436;782	ENSP00000411031:H437N;ENSP00000295736:H886N;ENSP00000416368:H762N;ENSP00000390394:H895N;ENSP00000414797:H882N;ENSP00000394252:H767N;ENSP00000406605:H878N;ENSP00000407382:H767N;ENSP00000406804:H882N;ENSP00000395336:H771N;ENSP00000373429:H436N;ENSP00000388703:H782N	ENSP00000295736:H886N	H	-	1	0	SLC4A7	27414199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.911000	0.48774	1.341000	0.45600	0.558000	0.71614	CAT		0.343	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		5	27	1	0	0.184627	1	0.184627	5	27				
ADAM12	8038	broad.mit.edu	37	10	127782640	127782640	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:127782640G>A	ENST00000368679.4	-	11	1377	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	ADAM12_ENST00000368676.4_Silent_p.F356F	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	356	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.F356F(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GATTCATCCCGAAATTGTGGC	0.502																																						ENST00000368679.4																			3	Substitution - coding silent(3)	p.F356F(3)	large_intestine(3)	biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1066-1068)ttC>ttT		ADAM metallopeptidase domain 12							148.0	128.0	135.0					10																	127782640		2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127782640G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1068C>T	10.37:g.127782640G>A						ADAM12_ENST00000368676.4_Silent_p.F356F	p.F356F	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	11	1377	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	356			Peptidase M12B.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.1068C>T	CCDS7653.1																																																																																				0.502	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			17	63	0	0	0	1	0	17	63				
CDCA2	157313	broad.mit.edu	37	8	25344843	25344843	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:25344843G>T	ENST00000330560.3	+	12	2003	c.1526G>T	c.(1525-1527)aGa>aTa	p.R509I	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.R494I	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	509					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ACTTCTAACAGAAGAAATGTA	0.328																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(1525-1527)aGa>aTa		cell division cycle associated 2							139.0	139.0	139.0					8																	25344843		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25344843G>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1526G>T	8.37:g.25344843G>T	ENSP00000328228:p.Arg509Ile					CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.R494I	p.R509I	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	12	2003	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	509					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.1526G>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.373927	0.61735	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.45668	0.89;0.89	5.96	3.06	0.35304	.	0.192317	0.36101	N	0.002784	T	0.57504	0.2058	M	0.70595	2.14	0.49915	D	0.999833	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.72075	0.967;0.976;0.976	T	0.59915	-0.7364	10	0.87932	D	0	-22.0221	7.4873	0.27441	0.2657:0.0:0.7343:0.0	.	509;494;509	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	I	509;494	ENSP00000328228:R509I;ENSP00000370040:R494I	ENSP00000328228:R509I	R	+	2	0	CDCA2	25400760	0.985000	0.35326	0.991000	0.47740	0.653000	0.38743	0.600000	0.24104	1.435000	0.47434	-0.345000	0.07892	AGA		0.328	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		23	112	1	0	1.85244e-09	1	2.01565e-09	23	112				
MTMR14	64419	broad.mit.edu	37	3	9695317	9695317	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:9695317G>A	ENST00000296003.4	+	2	294	c.172G>A	c.(172-174)Gag>Aag	p.E58K	MTMR14_ENST00000353332.5_Missense_Mutation_p.E58K|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.E58K	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	58					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TGAGCGCATTGAGAAGAGATG	0.512																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(172-174)Gag>Aag		myotubularin related protein 14							146.0	139.0	141.0					3																	9695317		1952	4160	6112	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9695317G>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.172G>A	3.37:g.9695317G>A	ENSP00000296003:p.Glu58Lys					MTMR14_ENST00000353332.5_Missense_Mutation_p.E58K|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.E58K	p.E58K	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			2	294	+	Medulloblastoma(99;0.227)		58					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.172G>A	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676371	0.88445	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	T;T;T	0.28895	1.59;1.59;1.59	4.95	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	M	0.65975	2.015	0.80722	D	1	D;D;P	0.59767	0.986;0.981;0.664	P;P;B	0.58266	0.836;0.74;0.36	T	0.43829	-0.9367	10	0.37606	T	0.19	-6.7056	13.9224	0.63940	0.0:0.1539:0.846:0.0	.	58;58;58	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	K	58	ENSP00000323462:E58K;ENSP00000296003:E58K;ENSP00000334070:E58K	ENSP00000296003:E58K	E	+	1	0	MTMR14	9670317	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	6.555000	0.73928	1.242000	0.43836	0.561000	0.74099	GAG		0.512	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		6	142	0	0	0	1	0	6	142				
HSPA14	51182	broad.mit.edu	37	10	14891737	14891737	+	Silent	SNP	T	T	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:14891737T>C	ENST00000378372.3	+	6	633	c.394T>C	c.(394-396)Ttg>Ctg	p.L132L		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	132					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						ACATTCTGTATTGGGCTCAGA	0.328																																						ENST00000378372.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						c.(394-396)Ttg>Ctg		heat shock 70kDa protein 14							102.0	103.0	103.0					10																	14891737		2203	4300	6503	SO:0001819	synonymous_variant	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14891737T>C	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.394T>C	10.37:g.14891737T>C							p.L132L	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN			6	633	+			132					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Silent	SNP	ENST00000378372.3	37	c.394T>C	CCDS7103.1																																																																																				0.328	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		10	63	0	0	0	1	0	10	63				
HNRNPH3	3189	broad.mit.edu	37	10	70098948	70098948	+	Missense_Mutation	SNP	A	A	T	rs2273903	byFrequency	TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:70098948A>T	ENST00000265866.7	+	5	653	c.488A>T	c.(487-489)aAt>aTt	p.N163I	HNRNPH3_ENST00000354695.5_Missense_Mutation_p.N148I|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.N55I	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	163	Gly-rich.		N -> S (in dbSNP:rs2273903).		epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GGCTATGGGAATGATGGCTTT	0.328																																						ENST00000265866.7																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						c.(487-489)aAt>aTt		heterogeneous nuclear ribonucleoprotein H3 (2H9)							143.0	154.0	151.0					10																	70098948		2203	4300	6503	SO:0001583	missense	3189				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr10:70098948A>T		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.488A>T	10.37:g.70098948A>T	ENSP00000265866:p.Asn163Ile					HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.N55I|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.N148I	p.N163I	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN			5	653	+			163		N -> S (in dbSNP:rs2273903).	Gly-rich.		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	c.488A>T	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.437068	0.62955	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.15017	2.86;2.46;2.66	5.83	5.83	0.93111	.	0.043399	0.85682	D	0.000000	T	0.17066	0.0410	L	0.34521	1.04	0.53005	D	0.999961	P;P;P	0.51351	0.906;0.944;0.906	B;P;B	0.44990	0.36;0.466;0.36	T	0.00992	-1.1488	10	0.54805	T	0.06	.	12.1054	0.53810	0.8569:0.1431:0.0:0.0	.	55;148;163	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	I	163;55;148	ENSP00000265866:N163I;ENSP00000409869:N55I;ENSP00000346726:N148I	ENSP00000265866:N163I	N	+	2	0	HNRNPH3	69768954	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.563000	0.67352	2.240000	0.73641	0.477000	0.44152	AAT		0.328	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			21	80	0	0	0	1	0	21	80				
AP4E1	23431	broad.mit.edu	37	15	51294782	51294782	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr15:51294782C>G	ENST00000261842.5	+	21	3443	c.3337C>G	c.(3337-3339)Ctg>Gtg	p.L1113V	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.L1038V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1113					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGTATTAGCCCTGTGGTTCAG	0.458																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(3337-3339)Ctg>Gtg		adaptor-related protein complex 4, epsilon 1 subunit							314.0	245.0	268.0					15																	51294782		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51294782C>G	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.3337C>G	15.37:g.51294782C>G	ENSP00000261842:p.Leu1113Val					AP4E1_ENST00000560508.1_Missense_Mutation_p.L1038V|AP4E1_ENST00000561397.1_3'UTR	p.L1113V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	21	3443	+			1113					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.3337C>G	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266453	0.40095	.	.	ENSG00000081014	ENST00000261842	T	0.15487	2.42	5.49	4.57	0.56435	Coatomer, beta subunit, C-terminal (1);	0.076649	0.53938	D	0.000047	T	0.15955	0.0384	L	0.39633	1.23	0.40857	D	0.983807	P	0.41978	0.767	B	0.43331	0.416	T	0.06409	-1.0828	10	0.27082	T	0.32	-6.1797	9.0875	0.36590	0.0:0.7712:0.0:0.2287	.	1113	Q9UPM8	AP4E1_HUMAN	V	1113	ENSP00000261842:L1113V	ENSP00000261842:L1113V	L	+	1	2	AP4E1	49082074	0.028000	0.19301	0.999000	0.59377	0.982000	0.71751	0.055000	0.14229	1.316000	0.45131	0.591000	0.81541	CTG		0.458	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			35	120	0	0	0	1	0	35	120				
BIRC6	57448	broad.mit.edu	37	2	32822887	32822887	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:32822887C>T	ENST00000421745.2	+	69	13816	c.13682C>T	c.(13681-13683)tCt>tTt	p.S4561F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4561					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CACTACATGTCTCAGGTGAAA	0.428																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(13681-13683)tCt>tTt		baculoviral IAP repeat containing 6							106.0	94.0	98.0					2																	32822887		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32822887C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13682C>T	2.37:g.32822887C>T	ENSP00000393596:p.Ser4561Phe						p.S4561F	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			69	13816	+	Acute lymphoblastic leukemia(172;0.155)		4561					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13682C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747349	0.89663	.	.	ENSG00000115760	ENST00000421745	T	0.72167	-0.63	4.88	4.88	0.63580	Ubiquitin-conjugating enzyme/RWD-like (1);	0.000000	0.85682	D	0.000000	D	0.82701	0.5094	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.84804	0.0786	10	0.87932	D	0	.	18.4115	0.90552	0.0:1.0:0.0:0.0	.	4561	Q9NR09	BIRC6_HUMAN	F	4561	ENSP00000393596:S4561F	ENSP00000393596:S4561F	S	+	2	0	BIRC6	32676391	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.420000	0.82092	0.585000	0.79938	TCT		0.428	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		6	28	0	0	0	1	0	6	28				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	34	0	0	0	1	0	9	34				
NFE2L3	9603	broad.mit.edu	37	7	26224177	26224177	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:26224177C>G	ENST00000056233.3	+	4	1118	c.859C>G	c.(859-861)Ctt>Gtt	p.L287V		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	287					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGATATTCCTCTTCCAGGCAG	0.403																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(859-861)Ctt>Gtt		nuclear factor, erythroid 2-like 3							140.0	135.0	137.0					7																	26224177		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224177C>G	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.859C>G	7.37:g.26224177C>G	ENSP00000056233:p.Leu287Val						p.L287V	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1118	+			287					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.859C>G	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486391	0.26686	.	.	ENSG00000050344	ENST00000056233	T	0.32023	1.47	5.06	-1.05	0.10036	.	1.582750	0.03165	N	0.169918	T	0.23133	0.0559	L	0.44542	1.39	0.09310	N	1	B	0.25312	0.123	B	0.19391	0.025	T	0.12451	-1.0547	10	0.10377	T	0.69	-0.6159	6.3391	0.21312	0.0:0.3702:0.131:0.4988	.	287	Q9Y4A8	NF2L3_HUMAN	V	287	ENSP00000056233:L287V	ENSP00000056233:L287V	L	+	1	0	NFE2L3	26190702	0.000000	0.05858	0.000000	0.03702	0.916000	0.54674	-0.314000	0.08092	-0.160000	0.11002	0.467000	0.42956	CTT		0.403	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			32	204	0	0	0	1	0	32	204				
ZNF665	79788	broad.mit.edu	37	19	53669307	53669307	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr19:53669307G>C	ENST00000600412.1	-	2	356	c.241C>G	c.(241-243)Cag>Gag	p.Q81E	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.Q146E			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AGATGTGACTGAAAGCTTACT	0.378																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(241-243)Cag>Gag		zinc finger protein 665							117.0	124.0	121.0					19																	53669307		2151	4277	6428	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53669307G>C		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.241C>G	19.37:g.53669307G>C	ENSP00000469154:p.Gln81Glu					ZNF665_ENST00000396424.3_Missense_Mutation_p.Q146E	p.Q81E			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	356	-			81					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.241C>G		.	.	.	.	.	.	.	.	.	.	G	5.222	0.226471	0.09916	.	.	ENSG00000197497	ENST00000396424	T	0.08984	3.03	2.15	-0.203	0.13204	.	.	.	.	.	T	0.05914	0.0154	L	0.33293	1	0.09310	N	1	B	0.29301	0.241	B	0.28011	0.085	T	0.43782	-0.9370	9	0.22706	T	0.39	.	6.5874	0.22628	0.2719:0.0:0.7281:0.0	.	146	Q9H7R5-2	.	E	146	ENSP00000379702:Q146E	ENSP00000379702:Q146E	Q	-	1	0	ZNF665	58361119	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	1.309000	0.33539	-0.123000	0.11745	-0.324000	0.08512	CAG		0.378	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		28	160	0	0	0	1	0	28	160				
ZC3H7A	29066	broad.mit.edu	37	16	11868313	11868313	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:11868313G>A	ENST00000396516.2	-	8	879	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.H228Y|ZC3H7A_ENST00000575170.1_5'Flank			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	228						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.H228Y(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CCAACTTCATGAGAAAAACTG	0.458																																						ENST00000396516.2																			1	Substitution - Missense(1)	p.H228Y(1)	urinary_tract(1)	breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						c.(682-684)Cat>Tat		zinc finger CCCH-type containing 7A							88.0	86.0	87.0					16																	11868313		2197	4300	6497	SO:0001583	missense	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11868313G>A	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.682C>T	16.37:g.11868313G>A	ENSP00000379773:p.His228Tyr					ZC3H7A_ENST00000355758.4_Missense_Mutation_p.H228Y	p.H228Y			Q8IWR0	Z3H7A_HUMAN			8	879	-			228					D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	c.682C>T	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	G	4.725	0.134778	0.09032	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.09723	2.95;2.95	5.48	4.41	0.53225	.	1.127380	0.06294	N	0.699761	T	0.09423	0.0232	L	0.36672	1.1	0.29839	N	0.829409	B	0.02656	0.0	B	0.04013	0.001	T	0.39542	-0.9609	10	0.02654	T	1	.	10.2254	0.43222	0.1007:0.0:0.8993:0.0	.	228	Q8IWR0	Z3H7A_HUMAN	Y	228	ENSP00000347999:H228Y;ENSP00000379773:H228Y	ENSP00000347999:H228Y	H	-	1	0	ZC3H7A	11775814	1.000000	0.71417	0.279000	0.24732	0.921000	0.55340	2.053000	0.41326	1.299000	0.44798	0.467000	0.42956	CAT		0.458	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		16	79	0	0	0	1	0	16	79				
PROKR1	10887	broad.mit.edu	37	2	68882334	68882334	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:68882334G>C	ENST00000303786.3	+	3	1228	c.808G>C	c.(808-810)Gag>Cag	p.E270Q	PROKR1_ENST00000394342.2_Missense_Mutation_p.E270Q			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	270					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.E270K(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATTCCAGACAGAGCAGATCCG	0.612																																						ENST00000303786.3																			1	Substitution - Missense(1)	p.E270K(1)	endometrium(1)	endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(808-810)Gag>Cag		prokineticin receptor 1							61.0	57.0	58.0					2																	68882334		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882334G>C	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.808G>C	2.37:g.68882334G>C	ENSP00000303775:p.Glu270Gln					PROKR1_ENST00000394342.2_Missense_Mutation_p.E270Q	p.E270Q			Q8TCW9	PKR1_HUMAN			3	1228	+			270					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.808G>C	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094941	0.76870	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.35236	1.32;1.32	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	N	0.26130	0.795	0.80722	D	1	P	0.42248	0.774	P	0.48334	0.574	T	0.02026	-1.1227	10	0.25751	T	0.34	.	15.6333	0.76929	0.0:0.0:1.0:0.0	.	270	Q8TCW9	PKR1_HUMAN	Q	270	ENSP00000303775:E270Q;ENSP00000377874:E270Q	ENSP00000303775:E270Q	E	+	1	0	PROKR1	68735838	1.000000	0.71417	0.978000	0.43139	0.758000	0.43043	7.461000	0.80834	2.816000	0.96949	0.563000	0.77884	GAG		0.612	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			13	69	0	0	0	1	0	13	69				
IKZF1	10320	broad.mit.edu	37	7	50468225	50468225	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:50468225G>A	ENST00000331340.3	+	8	1615	c.1460G>A	c.(1459-1461)cGt>cAt	p.R487H	IKZF1_ENST00000438033.1_Missense_Mutation_p.R400H|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.R400H|IKZF1_ENST00000346667.4_Missense_Mutation_p.R257H|IKZF1_ENST00000439701.1_Missense_Mutation_p.R445H|IKZF1_ENST00000359197.5_Missense_Mutation_p.R445H|IKZF1_ENST00000357364.4_Missense_Mutation_p.R400H|IKZF1_ENST00000349824.4_Missense_Mutation_p.R344H	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	487					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CACGGCTTCCGTGATCCTTTT	0.577			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1459-1461)cGt>cAt		IKAROS family zinc finger 1 (Ikaros)							48.0	54.0	52.0					7																	50468225		2193	4296	6489	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468225G>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1460G>A	7.37:g.50468225G>A	ENSP00000331614:p.Arg487His					IKZF1_ENST00000439701.1_Missense_Mutation_p.R445H|IKZF1_ENST00000357364.4_Missense_Mutation_p.R400H|IKZF1_ENST00000359197.5_Missense_Mutation_p.R445H|IKZF1_ENST00000343574.5_Missense_Mutation_p.R400H|IKZF1_ENST00000438033.1_Missense_Mutation_p.R400H|IKZF1_ENST00000346667.4_Missense_Mutation_p.R257H|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000349824.4_Missense_Mutation_p.R344H	p.R487H	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			8	1615	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	487					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.1460G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.766002	0.96914	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.68302	0.2986	.	.	.	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	0.999;0.999;0.999;1.0;0.997	T	0.69687	-0.5078	9	0.62326	D	0.03	-3.8512	19.9376	0.97146	0.0:0.0:1.0:0.0	.	400;257;400;445;487	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	H	257;400;445;344;400;487;400;445	ENSP00000340080:R257H;ENSP00000342750:R400H;ENSP00000352123:R445H;ENSP00000342485:R344H;ENSP00000349928:R400H;ENSP00000331614:R487H;ENSP00000396554:R400H;ENSP00000413025:R445H	ENSP00000331614:R487H	R	+	2	0	IKZF1	50435719	1.000000	0.71417	0.963000	0.40424	0.944000	0.59088	7.900000	0.87376	2.711000	0.92665	0.655000	0.94253	CGT		0.577	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		33	46	0	0	0	1	0	33	46				
TXNDC16	57544	broad.mit.edu	37	14	52978086	52978086	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr14:52978086G>A	ENST00000281741.4	-	9	999	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	210					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AAGTAGAGATGTGCATATTCC	0.343																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(628-630)Cat>Tat		thioredoxin domain containing 16							106.0	98.0	101.0					14																	52978086		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52978086G>A	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.628C>T	14.37:g.52978086G>A	ENSP00000281741:p.His210Tyr					TXNDC16_ENST00000554399.1_Intron	p.H210Y	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			9	999	-	Breast(41;0.0716)		210					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.628C>T	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340556	0.41498	.	.	ENSG00000087301	ENST00000281741	T	0.17054	2.3	5.31	4.3	0.51218	.	0.294487	0.36444	N	0.002597	T	0.11793	0.0287	L	0.51422	1.61	0.26300	N	0.977986	P;B	0.34462	0.454;0.046	B;B	0.26202	0.067;0.012	T	0.18713	-1.0328	10	0.07813	T	0.8	-13.0263	9.9128	0.41417	0.0:0.0:0.7484:0.2515	.	205;210	B7ZME4;Q9P2K2	.;TXD16_HUMAN	Y	210	ENSP00000281741:H210Y	ENSP00000281741:H210Y	H	-	1	0	TXNDC16	52047836	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.679000	0.46909	2.641000	0.89580	0.460000	0.39030	CAT		0.343	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		19	99	0	0	0	1	0	19	99				
GOLM1	51280	broad.mit.edu	37	9	88694257	88694257	+	Splice_Site	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:88694257C>T	ENST00000388712.3	-	2	148		c.e2-1		GOLM1_ENST00000257504.6_5'Flank|GOLM1_ENST00000388711.3_Splice_Site	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1						nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CGCTGAGAATCTGCCAAGTAA	0.502																																						ENST00000388712.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.e2-1		golgi membrane protein 1							30.0	33.0	32.0					9																	88694257		2203	4300	6503	SO:0001630	splice_region_variant	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88694257C>T	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.21-1G>A	9.37:g.88694257C>T						GOLM1_ENST00000388711.3_Splice_Site		NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN			2	148	-								Q6IAF4|Q9NRB9	Splice_Site	SNP	ENST00000388712.3	37		CCDS35054.1																																																																																				0.502	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937	Intron	20	57	0	0	0	1	0	20	57				
ANKS1B	56899	broad.mit.edu	37	12	99640583	99640583	+	Missense_Mutation	SNP	C	C	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:99640583C>A	ENST00000547776.2	-	13	1815	c.1816G>T	c.(1816-1818)Gca>Tca	p.A606S	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.A186S|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A606S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	606						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGCAGGCCTGCAAATTGCCCA	0.453																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(1816-1818)Gca>Tca		ankyrin repeat and sterile alpha motif domain containing 1B							152.0	146.0	148.0					12																	99640583		1881	4097	5978	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640583C>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1816G>T	12.37:g.99640583C>A	ENSP00000449629:p.Ala606Ser					ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A606S|ANKS1B_ENST00000547010.1_Missense_Mutation_p.A186S	p.A606S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	1815	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	606					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1816G>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	8.944	0.966550	0.18659	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	T;T;T	0.60040	0.96;0.22;0.96	5.62	5.62	0.85841	.	0.128213	0.50627	D	0.000119	T	0.65260	0.2674	N	0.26042	0.785	0.80722	D	1	B;D	0.63880	0.357;0.993	B;D	0.72625	0.396;0.978	T	0.61262	-0.7098	9	.	.	.	-11.7481	18.2041	0.89848	0.0:1.0:0.0:0.0	.	186;606	Q7Z6G8-6;Q7Z6G8	.;ANS1B_HUMAN	S	606;186;606;185	ENSP00000449629:A606S;ENSP00000448512:A186S;ENSP00000331381:A606S	.	A	-	1	0	ANKS1B	98164714	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	6.815000	0.75242	2.813000	0.96785	0.561000	0.74099	GCA		0.453	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		9	199	1	0	2.17888e-05	1	2.28044e-05	9	199				
NFASC	23114	broad.mit.edu	37	1	204957855	204957855	+	Silent	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:204957855C>T	ENST00000401399.1	+	22	2887	c.2688C>T	c.(2686-2688)taC>taT	p.Y896Y	NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367169.4_Silent_p.Y896Y|NFASC_ENST00000338586.6_Silent_p.Y1003Y|NFASC_ENST00000367170.4_Silent_p.Y1003Y|NFASC_ENST00000367172.4_Silent_p.Y1003Y|NFASC_ENST00000339876.6_Silent_p.Y896Y|NFASC_ENST00000513543.1_Silent_p.Y999Y|NFASC_ENST00000367171.4_Silent_p.Y988Y|NFASC_ENST00000360049.4_Silent_p.Y999Y|NFASC_ENST00000338515.6_Silent_p.Y1003Y|NFASC_ENST00000539706.1_Silent_p.Y999Y|NFASC_ENST00000404907.1_Silent_p.Y999Y|NFASC_ENST00000404076.1_Silent_p.Y982Y			O94856	NFASC_HUMAN	neurofascin	904	Fibronectin type-III 3. {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)			TGTCACGCTACCGCTTTACCC	0.582																																						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.(3007-3009)taC>taT		neurofascin							100.0	91.0	94.0					1																	204957855		2203	4300	6503	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.chr1:204957855C>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.2688C>T	1.37:g.204957855C>T						NFASC_ENST00000339876.6_Silent_p.Y896Y|NFASC_ENST00000367171.4_Silent_p.Y988Y|NFASC_ENST00000404907.1_Silent_p.Y999Y|NFASC_ENST00000360049.4_Silent_p.Y999Y|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000401399.1_Silent_p.Y896Y|NFASC_ENST00000338515.6_Silent_p.Y1003Y|NFASC_ENST00000513543.1_Silent_p.Y999Y|NFASC_ENST00000367169.4_Silent_p.Y896Y|NFASC_ENST00000367170.4_Silent_p.Y1003Y|NFASC_ENST00000539706.1_Silent_p.Y999Y|NFASC_ENST00000404076.1_Silent_p.Y982Y|NFASC_ENST00000338586.6_Silent_p.Y1003Y	p.Y1003Y			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		25	3337	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1003			Fibronectin type-III 4.		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.3009C>T	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.24|10.24	1.296866|1.296866	0.23650|0.23650	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000413225|ENST00000367173;ENST00000425360	.|.	.|.	.|.	5.57|5.57	4.56|4.56	0.56223|0.56223	.|.	.|.	.|.	.|.	.|.	T|T	0.59582|0.59582	0.2204|0.2204	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56842|0.56842	-0.7912|-0.7912	4|4	.|.	.|.	.|.	.|.	8.9797|8.9797	0.35957|0.35957	0.0:0.7545:0.0:0.2455|0.0:0.7545:0.0:0.2455	.|.	.|.	.|.	.|.	S|I	22|866;128	.|.	.|.	P|T	+|+	1|2	0|0	NFASC|NFASC	203224478|203224478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.184000|1.184000	0.32053|0.32053	1.175000|1.175000	0.42826|0.42826	0.655000|0.655000	0.94253|0.94253	CCG|ACC		0.582	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		21	76	0	0	0	1	0	21	76				
FNIP1	96459	broad.mit.edu	37	5	131014771	131014771	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:131014771G>A	ENST00000510461.1	-	12	1395	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	FNIP1_ENST00000511848.1_Missense_Mutation_p.R434C|FNIP1_ENST00000307954.8_Missense_Mutation_p.R389C|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.R406C	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	434					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R434C(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTCATGAAACGATAGCAAAGG	0.348																																						ENST00000307968.7																			1	Substitution - Missense(1)	p.R434C(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1216-1218)Cgt>Tgt		folliculin interacting protein 1							74.0	69.0	71.0					5																	131014771		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131014771G>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1300C>T	5.37:g.131014771G>A	ENSP00000421985:p.Arg434Cys					FNIP1_ENST00000307954.8_Missense_Mutation_p.R389C|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.R434C|FNIP1_ENST00000510461.1_Missense_Mutation_p.R434C	p.R406C	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	11	1215	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.1216C>T	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896486	0.91962	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.45	5.45	0.79879	.	.	.	.	.	T	0.56411	0.1983	M	0.77103	2.36	0.80722	D	1	D;D;D;P	0.89917	1.0;0.998;1.0;0.884	P;P;P;B	0.60682	0.878;0.804;0.878;0.222	T	0.60073	-0.7334	9	0.72032	D	0.01	-6.9804	19.6324	0.95717	0.0:0.0:1.0:0.0	.	434;434;406;434	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	C	406;389;194;434;434	ENSP00000309266:R406C;ENSP00000310453:R389C;ENSP00000421985:R434C;ENSP00000425619:R434C	ENSP00000310453:R389C	R	-	1	0	FNIP1	131042670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.169000	0.94788	2.706000	0.92434	0.655000	0.94253	CGT		0.348	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		16	54	0	0	0	1	0	16	54				
NLRC5	84166	broad.mit.edu	37	16	57104531	57104531	+	Splice_Site	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:57104531G>A	ENST00000262510.6	+	38	4892		c.e38+1		NLRC5_ENST00000308149.7_Splice_Site|NLRC5_ENST00000539144.1_Splice_Site|NLRC5_ENST00000436936.1_Splice_Site	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGAGGCTGGAGTAAGTAGTGA	0.532																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.e38+1		NLR family, CARD domain containing 5							140.0	104.0	116.0					16																	57104531		2198	4300	6498	SO:0001630	splice_region_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57104531G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4667+1G>A	16.37:g.57104531G>A						NLRC5_ENST00000262510.6_Splice_Site|NLRC5_ENST00000539144.1_Splice_Site|NLRC5_ENST00000308149.7_Splice_Site				Q86WI3	NLRC5_HUMAN			38	4956	+		all_neural(199;0.225)						B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Splice_Site	SNP	ENST00000262510.6	37		CCDS10773.1	.	.	.	.	.	.	.	.	.	.	g	10.31	1.315374	0.23908	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6627	0.51356	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRC5	55662032	1.000000	0.71417	0.963000	0.40424	0.311000	0.27955	4.084000	0.57650	2.200000	0.70718	0.453000	0.30009	.		0.532	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	Intron	33	42	0	0	0	1	0	33	42				
RUNX1T1	862	broad.mit.edu	37	8	93003946	93003946	+	Silent	SNP	A	A	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:93003946A>G	ENST00000523629.1	-	7	1366	c.912T>C	c.(910-912)gaT>gaC	p.D304D	RUNX1T1_ENST00000518844.1_Silent_p.D277D|RUNX1T1_ENST00000422361.2_Silent_p.D267D|RUNX1T1_ENST00000396218.1_Silent_p.D277D|RUNX1T1_ENST00000360348.2_Silent_p.D267D|RUNX1T1_ENST00000265814.3_Silent_p.D304D|RUNX1T1_ENST00000436581.2_Silent_p.D315D|RUNX1T1_ENST00000520724.1_Silent_p.D267D	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	304					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CAATGGCCATATCATCCAAAC	0.567																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(910-912)gaT>gaC		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							239.0	193.0	209.0					8																	93003946		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93003946A>G	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.912T>C	8.37:g.93003946A>G						RUNX1T1_ENST00000422361.2_Silent_p.D267D|RUNX1T1_ENST00000518844.1_Silent_p.D277D|RUNX1T1_ENST00000436581.2_Silent_p.D315D|RUNX1T1_ENST00000360348.2_Silent_p.D267D|RUNX1T1_ENST00000265814.3_Silent_p.D304D|RUNX1T1_ENST00000396218.1_Silent_p.D277D|RUNX1T1_ENST00000520724.1_Silent_p.D267D	p.D304D	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		7	1366	-			304					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.912T>C	CCDS6256.1																																																																																				0.567	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		99	130	0	0	0	1	0	99	130				
MAGEB1	4112	broad.mit.edu	37	X	30269282	30269282	+	Missense_Mutation	SNP	G	G	A	rs376839526		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:30269282G>A	ENST00000378981.3	+	4	993	c.672G>A	c.(670-672)atG>atA	p.M224I	MAGEB1_ENST00000397550.1_Missense_Mutation_p.M224I|MAGEB1_ENST00000397548.2_Missense_Mutation_p.M224I	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	224	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.M224I(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GGAAATTCATGAATGTGTTGG	0.478																																						ENST00000378981.3																			1	Substitution - Missense(1)	p.M224I(1)	NS(1)	NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(670-672)atG>atA		melanoma antigen family B, 1							70.0	56.0	61.0					X																	30269282		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269282G>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.672G>A	X.37:g.30269282G>A	ENSP00000368264:p.Met224Ile					MAGEB1_ENST00000397548.2_Missense_Mutation_p.M224I|MAGEB1_ENST00000397550.1_Missense_Mutation_p.M224I	p.M224I	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN			4	993	+			224			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.672G>A	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510355	0.27036	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.04551	3.6;3.6;3.6	3.99	0.155	0.14906	.	0.081704	0.50627	D	0.000120	T	0.04452	0.0122	L	0.46157	1.445	0.09310	N	1	B	0.26708	0.157	B	0.29663	0.105	T	0.34030	-0.9845	10	0.87932	D	0	.	2.9699	0.05919	0.2225:0.0:0.4019:0.3756	.	224	P43366	MAGB1_HUMAN	I	224	ENSP00000368264:M224I;ENSP00000380683:M224I;ENSP00000380681:M224I	ENSP00000368264:M224I	M	+	3	0	MAGEB1	30179203	0.999000	0.42202	0.187000	0.23214	0.079000	0.17450	1.020000	0.30027	-0.108000	0.12066	-0.222000	0.12452	ATG		0.478	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		14	42	0	0	0	1	0	14	42				
TLR4	7099	broad.mit.edu	37	9	120476222	120476222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:120476222C>T	ENST00000355622.6	+	3	1917	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	TLR4_ENST00000394487.4_Nonsense_Mutation_p.R566*|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	606	LRRCT.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GGAAGTTGAACGAATGGAATG	0.443																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(1816-1818)Cga>Tga		toll-like receptor 4							128.0	112.0	117.0					9																	120476222		2203	4300	6503	SO:0001587	stop_gained	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476222C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1816C>T	9.37:g.120476222C>T	ENSP00000363089:p.Arg606*					TLR4_ENST00000394487.4_Nonsense_Mutation_p.R566*|TLR4_ENST00000472304.1_3'UTR	p.R606*	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	1917	+			606			LRRCT.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Nonsense_Mutation	SNP	ENST00000355622.6	37	c.1816C>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248018	0.80024	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	.	.	.	6.02	3.06	0.35304	.	1.192230	0.05693	N	0.592566	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	4.877	0.13662	0.2311:0.5577:0.1125:0.0988	.	.	.	.	X	566;606	.	ENSP00000363089:R606X	R	+	1	2	TLR4	119516043	0.000000	0.05858	0.649000	0.29536	0.011000	0.07611	-0.489000	0.06490	0.369000	0.24510	-0.188000	0.12872	CGA		0.443	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		31	59	0	0	0	1	0	31	59				
BDH2	56898	broad.mit.edu	37	4	104016382	104016382	+	Silent	SNP	A	A	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr4:104016382A>C	ENST00000296424.4	-	3	249	c.129T>G	c.(127-129)ctT>ctG	p.L43L		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	43					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		CCAGTTCCTGAAGTTTGGACT	0.403																																						ENST00000296424.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(127-129)ctT>ctG		3-hydroxybutyrate dehydrogenase, type 2							126.0	117.0	120.0					4																	104016382		2203	4300	6503	SO:0001819	synonymous_variant	56898				fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:104016382A>C	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.129T>G	4.37:g.104016382A>C							p.L43L	NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)	3	249	-		Hepatocellular(203;0.217)	43					A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Silent	SNP	ENST00000296424.4	37	c.129T>G	CCDS3663.1																																																																																				0.403	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	NM_020139		21	135	0	0	0	1	0	21	135				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		6	54	0	0	0	1	0	6	54				
RPA1	6117	broad.mit.edu	37	17	1792040	1792040	+	Silent	SNP	G	G	A	rs145553070	byFrequency	TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:1792040G>A	ENST00000254719.5	+	14	1556	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	482					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AAGCCTGCCCGACTCAGGACT	0.483								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1444-1446)ccG>ccA	Nucleotide excision repair (NER)	replication protein A1, 70kDa		G		2,4404	4.2+/-10.8	0,2,2201	134.0	112.0	119.0		1446	-12.3	0.2	17	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	RPA1	NM_002945.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		482/617	1792040	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1792040G>A	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1446G>A	17.37:g.1792040G>A							p.P482P	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			14	1556	+			482					A8K0Y9|Q59ES9	Silent	SNP	ENST00000254719.5	37	c.1446G>A	CCDS11014.1																																																																																				0.483	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		14	87	0	0	0	1	0	14	87				
HTR3A	3359	broad.mit.edu	37	11	113857259	113857259	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:113857259C>G	ENST00000504030.2	+	7	1170	c.725C>G	c.(724-726)cCc>cGc	p.P242R	HTR3A_ENST00000299961.5_Missense_Mutation_p.P227R|HTR3A_ENST00000375498.2_Missense_Mutation_p.P248R|HTR3A_ENST00000355556.2_Missense_Mutation_p.P248R|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Missense_Mutation_p.P242R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	242					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CGCCGGCGGCCCCTCTTCTAT	0.612																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(724-726)cCc>cGc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)																																			SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857259C>G	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.725C>G	11.37:g.113857259C>G	ENSP00000424189:p.Pro242Arg					HTR3A_ENST00000355556.2_Missense_Mutation_p.P248R|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Missense_Mutation_p.P242R|HTR3A_ENST00000299961.5_Missense_Mutation_p.P227R|HTR3A_ENST00000375498.2_Missense_Mutation_p.P248R	p.P242R			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1170	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	242					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.725C>G		.	.	.	.	.	.	.	.	.	.	C	20.6	4.016447	0.75161	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	D;T;D;T;D	0.89050	-2.46;-1.14;-2.46;-1.14;-2.46	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.95449	0.8522	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.994	D	0.96269	0.9197	10	0.87932	D	0	-22.228	16.8569	0.86008	0.0:1.0:0.0:0.0	.	227;248;248	B4DSY6;G5E986;Q7KZM7	.;.;.	R	242;248;248;242;227	ENSP00000424189:P242R;ENSP00000347754:P248R;ENSP00000364648:P248R;ENSP00000424776:P242R;ENSP00000299961:P227R	ENSP00000299961:P227R	P	+	2	0	HTR3A	113362469	1.000000	0.71417	0.984000	0.44739	0.670000	0.39368	7.776000	0.85560	2.479000	0.83701	0.561000	0.74099	CCC		0.612	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		16	81	0	0	0	1	0	16	81				
NEB	4703	broad.mit.edu	37	2	152348774	152348774	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:152348774C>G	ENST00000172853.10	-	145	19474	c.19327G>C	c.(19327-19329)Gag>Cag	p.E6443Q	NEB_ENST00000397345.3_Missense_Mutation_p.E8299Q|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000397336.2_Missense_Mutation_p.E274Q|NEB_ENST00000604864.1_Missense_Mutation_p.E8299Q|NEB_ENST00000427231.2_Missense_Mutation_p.E8299Q|NEB_ENST00000603639.1_Missense_Mutation_p.E8299Q|NEB_ENST00000409198.1_Missense_Mutation_p.E6443Q|RIF1_ENST00000457745.1_Intron|NEB_ENST00000509223.2_Missense_Mutation_p.E212Q			P20929	NEBU_HUMAN	nebulin	6443					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGTGTTTCTCAAAGTCTTCA	0.398																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(24895-24897)Gag>Cag		nebulin							101.0	94.0	96.0					2																	152348774		1905	4125	6030	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152348774C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19327G>C	2.37:g.152348774C>G	ENSP00000172853:p.Glu6443Gln					RIF1_ENST00000457745.1_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.E8299Q|NEB_ENST00000397336.2_Missense_Mutation_p.E274Q|NEB_ENST00000172853.10_Missense_Mutation_p.E6443Q|NEB_ENST00000409198.1_Missense_Mutation_p.E6443Q|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000397345.3_Missense_Mutation_p.E8299Q|NEB_ENST00000509223.2_Missense_Mutation_p.E212Q|NEB_ENST00000603639.1_Missense_Mutation_p.E8299Q	p.E8299Q	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	178	25097	-			6443					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.24895G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.082044|5.082044	0.94050|0.94050	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223|ENST00000397337;ENST00000434685	T;T;T;T;T;T;T|.	0.61510|.	0.1;0.1;0.1;0.1;0.1;0.1;0.1|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.093484|.	0.64402|.	D|.	0.000001|.	T|T	0.77205|0.77205	0.4096|0.4096	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	P;D;D;D;D;D|.	0.89917|.	0.87;0.989;1.0;0.998;0.969;0.999|.	P;D;D;D;D;D|.	0.87578|.	0.561;0.986;0.998;0.962;0.968;0.982|.	T|T	0.76621|0.76621	-0.2892|-0.2892	10|5	0.62326|.	D|.	0.03|.	.|.	18.9787|18.9787	0.92747|0.92747	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	212;274;212;6443;2781;8299|.	B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5|.	.;.;.;NEBU_HUMAN;.;.|.	Q|F	6443;8299;8299;2399;2781;6443;274;212|432;539	ENSP00000386259:E6443Q;ENSP00000380505:E8299Q;ENSP00000416578:E8299Q;ENSP00000410961:E2781Q;ENSP00000172853:E6443Q;ENSP00000380497:E274Q;ENSP00000427083:E212Q|.	ENSP00000172853:E6443Q|.	E|L	-|-	1|3	0|2	NEB|NEB	152057020|152057020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	7.778000|7.778000	0.85637|0.85637	2.570000|2.570000	0.86706|0.86706	0.563000|0.563000	0.77884|0.77884	GAG|TTG		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	78	0	0	0	1	0	5	78				
STAT5A	6776	broad.mit.edu	37	17	40453383	40453383	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:40453383G>A	ENST00000345506.4	+	10	1722	c.1080G>A	c.(1078-1080)ctG>ctA	p.L360L	STAT5A_ENST00000588868.1_Silent_p.L360L|STAT5A_ENST00000546010.2_Silent_p.L330L|STAT5A_ENST00000452307.2_Silent_p.L360L|STAT5A_ENST00000590949.1_Silent_p.L360L	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	360					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCGGGAAGCTGAACGTGCACA	0.552																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1078-1080)ctG>ctA		signal transducer and activator of transcription 5A							153.0	131.0	139.0					17																	40453383		2203	4300	6503	SO:0001819	synonymous_variant	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40453383G>A	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1080G>A	17.37:g.40453383G>A						STAT5A_ENST00000546010.2_Silent_p.L330L|STAT5A_ENST00000590949.1_Silent_p.L360L|STAT5A_ENST00000588868.1_Silent_p.L360L|STAT5A_ENST00000452307.2_Silent_p.L360L	p.L360L	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	10	1722	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	360					Q1KLZ6	Silent	SNP	ENST00000345506.4	37	c.1080G>A	CCDS11424.1																																																																																				0.552	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		14	133	0	0	0	1	0	14	133				
OR2AK2	391191	broad.mit.edu	37	1	248129523	248129523	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:248129523C>T	ENST00000366480.3	+	1	989	c.890C>T	c.(889-891)aCa>aTa	p.T297I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACCATTGTCACACCTCTACTG	0.473																																					Melanoma(45;390 1181 23848 28461 41504)	ENST00000366480.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(889-891)aCa>aTa		olfactory receptor, family 2, subfamily AK, member 2							129.0	110.0	117.0					1																	248129523		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129523C>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.890C>T	1.37:g.248129523C>T	ENSP00000355436:p.Thr297Ile					OR2L13_ENST00000366478.2_Intron	p.T297I	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	989	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		297					B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.890C>T	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.960138	0.34565	.	.	ENSG00000187080	ENST00000366480	T	0.37584	1.19	2.9	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42086	0.1187	L	0.55017	1.72	0.09310	N	1	B	0.30563	0.285	B	0.42625	0.393	T	0.47824	-0.9087	9	0.72032	D	0.01	.	10.1492	0.42782	0.0:0.8858:0.0:0.1142	.	297	Q8NG84	O2AK2_HUMAN	I	297	ENSP00000355436:T297I	ENSP00000355436:T297I	T	+	2	0	OR2AK2	246196146	0.000000	0.05858	0.007000	0.13788	0.013000	0.08279	0.045000	0.14013	1.597000	0.50072	0.462000	0.41574	ACA		0.473	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		25	46	0	0	0	1	0	25	46				
FAAH2	158584	broad.mit.edu	37	X	57367816	57367816	+	Silent	SNP	T	T	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:57367816T>G	ENST00000374900.4	+	5	855	c.735T>G	c.(733-735)ccT>ccG	p.P245P		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	245						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GACACAAGCCTTCTCCAGGTA	0.418										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(733-735)ccT>ccG		fatty acid amide hydrolase 2							216.0	203.0	207.0					X																	57367816		2203	4300	6503	SO:0001819	synonymous_variant	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57367816T>G	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.735T>G	X.37:g.57367816T>G		HNSCC(52;0.14)					p.P245P	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			5	855	+			245					Q86VT2|Q96N98	Silent	SNP	ENST00000374900.4	37	c.735T>G	CCDS14375.1																																																																																				0.418	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		8	323	0	0	0	1	0	8	323				
KNTC1	9735	broad.mit.edu	37	12	123070213	123070213	+	Missense_Mutation	SNP	G	G	A	rs533594471		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:123070213G>A	ENST00000333479.7	+	37	3742	c.3565G>A	c.(3565-3567)Gaa>Aaa	p.E1189K	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1189					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGATCCATATGAAGAGTGGTC	0.403																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(3565-3567)Gaa>Aaa		kinetochore associated 1							179.0	166.0	170.0					12																	123070213		1885	4109	5994	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123070213G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3565G>A	12.37:g.123070213G>A	ENSP00000328236:p.Glu1189Lys					KNTC1_ENST00000450485.2_Intron	p.E1189K	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	37	3742	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1189					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.3565G>A	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631614	0.46944	.	.	ENSG00000184445	ENST00000333479	T	0.14893	2.47	6.03	5.15	0.70609	.	0.112135	0.64402	D	0.000006	T	0.16300	0.0392	L	0.59436	1.845	0.80722	D	1	B	0.23377	0.084	B	0.17098	0.017	T	0.04413	-1.0953	10	0.09843	T	0.71	-19.4805	11.7482	0.51832	0.1832:0.0:0.8168:0.0	.	1189	P50748	KNTC1_HUMAN	K	1189	ENSP00000328236:E1189K	ENSP00000328236:E1189K	E	+	1	0	KNTC1	121636166	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.581000	0.46077	1.570000	0.49709	-0.252000	0.11476	GAA		0.403	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			15	76	0	0	0	1	0	15	76				
OPRL1	4987	broad.mit.edu	37	20	62729328	62729328	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr20:62729328C>T	ENST00000349451.3	+	5	819	c.407C>T	c.(406-408)aCc>aTc	p.T136I	OPRL1_ENST00000355631.4_Missense_Mutation_p.T136I|OPRL1_ENST00000336866.2_Missense_Mutation_p.T136I	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	136					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AACATGTTCACCAGCACCTTC	0.582																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(406-408)aCc>aTc		opiate receptor-like 1							222.0	188.0	200.0					20																	62729328		2203	4300	6503	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729328C>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.407C>T	20.37:g.62729328C>T	ENSP00000336764:p.Thr136Ile					OPRL1_ENST00000355631.4_Missense_Mutation_p.T136I|OPRL1_ENST00000336866.2_Missense_Mutation_p.T136I	p.T136I	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			5	819	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		136					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.407C>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854483	0.91355	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.72394	-0.65;-0.65;-0.65	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85287	0.5662	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87374	0.2352	10	0.72032	D	0.01	.	18.4596	0.90734	0.0:1.0:0.0:0.0	.	131;136	P41146-2;P41146	.;OPRX_HUMAN	I	136	ENSP00000336843:T136I;ENSP00000347848:T136I;ENSP00000336764:T136I	ENSP00000336843:T136I	T	+	2	0	OPRL1	62199772	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.602000	0.82796	2.374000	0.81015	0.551000	0.68910	ACC		0.582	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		5	138	0	0	0	1	0	5	138				
DST	667	broad.mit.edu	37	6	56473226	56473226	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr6:56473226C>T	ENST00000361203.3	-	36	5574	c.5567G>A	c.(5566-5568)cGa>cAa	p.R1856Q	DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.R1856Q|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.R1856Q|DST_ENST00000370754.5_Missense_Mutation_p.R2034Q|DST_ENST00000446842.2_Missense_Mutation_p.R1530Q			Q03001	DYST_HUMAN	dystonin	1856					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACATAGCCTCGCTGAGCTTC	0.438																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(6100-6102)cGa>cAa		dystonin							77.0	76.0	76.0					6																	56473226		1911	4134	6045	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56473226C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.5567G>A	6.37:g.56473226C>T	ENSP00000354508:p.Arg1856Gln					DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.R1856Q|DST_ENST00000446842.2_Missense_Mutation_p.R1530Q|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.R1856Q|DST_ENST00000312431.6_Missense_Mutation_p.R1856Q	p.R2034Q			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	6100	-	Lung NSC(77;0.103)		1856					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.6101G>A		.	.	.	.	.	.	.	.	.	.	C	15.08	2.726714	0.48833	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.01	5.01	0.66863	.	0.000000	0.43919	D	0.000503	T	0.53029	0.1771	.	.	.	0.32447	N	0.5459689999999999	P	0.41848	0.763	B	0.37601	0.254	T	0.59327	-0.7475	8	0.36615	T	0.2	.	18.2754	0.90081	0.0:1.0:0.0:0.0	.	1530	Q03001-9	.	Q	2034;1856;1530;1856;1856;1530	ENSP00000359790:R2034Q;ENSP00000359805:R1856Q;ENSP00000393645:R1530Q;ENSP00000307959:R1856Q;ENSP00000354508:R1856Q;ENSP00000404924:R1530Q	ENSP00000307959:R1856Q	R	-	2	0	DST	56581185	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	1.930000	0.40124	2.477000	0.83638	0.455000	0.32223	CGA		0.438	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		31	54	0	0	0	1	0	31	54				
TMCC2	9911	broad.mit.edu	37	1	205240255	205240255	+	Silent	SNP	C	C	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:205240255C>A	ENST00000358024.3	+	4	2079	c.1690C>A	c.(1690-1692)Cgg>Agg	p.R564R	TMCC2_ENST00000329800.7_Silent_p.R324R|TMCC2_ENST00000545499.1_Silent_p.R486R|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.R339R	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	564						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGGTACGAGCGGCTGGAGGA	0.552																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1690-1692)Cgg>Agg		transmembrane and coiled-coil domain family 2							54.0	52.0	53.0					1																	205240255		2203	4300	6503	SO:0001819	synonymous_variant	9911					integral to membrane	protein binding	g.chr1:205240255C>A	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1690C>A	1.37:g.205240255C>A						TMCC2_ENST00000329800.7_Silent_p.R324R|TMCC2_ENST00000330675.7_Silent_p.R339R|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.R486R	p.R564R	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		4	2079	+	Breast(84;0.0871)		564					A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	37	c.1690C>A	CCDS30984.1																																																																																				0.552	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		10	24	1	0	7.48243e-07	1	7.96621e-07	10	24				
YDJC	150223	broad.mit.edu	37	22	21984245	21984245	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr22:21984245C>G	ENST00000292778.6	-	1	108	c.59G>C	c.(58-60)cGa>cCa	p.R20P	CCDC116_ENST00000292779.3_5'Flank|CCDC116_ENST00000607942.1_5'Flank|YDJC_ENST00000398873.3_Missense_Mutation_p.R20P	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	20					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)					Colorectal(54;0.105)					CTCATCGCGTCGCGGGCAGTA	0.716																																						ENST00000292778.6																			0											c.(58-60)cGa>cCa		YdjC homolog (bacterial)							23.0	22.0	22.0					22																	21984245		2185	4280	6465	SO:0001583	missense	150223				carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	g.chr22:21984245C>G		CCDS33613.1	22q11.21	2008-02-26			ENSG00000161179	ENSG00000161179			27158	protein-coding gene	gene with protein product						18177738	Standard	XM_005261347		Approved		uc002zvb.2	A8MPS7	OTTHUMG00000150822	ENST00000292778.6:c.59G>C	22.37:g.21984245C>G	ENSP00000292778:p.Arg20Pro					YDJC_ENST00000398873.3_Missense_Mutation_p.R20P	p.R20P	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN			1	108	-	Colorectal(54;0.105)		20					Q2YDT4|Q4V9R7	Missense_Mutation	SNP	ENST00000292778.6	37	c.59G>C	CCDS33613.1	.	.	.	.	.	.	.	.	.	.	c	14.35	2.509602	0.44660	.	.	ENSG00000161179	ENST00000292778;ENST00000398873	T;T	0.42131	0.98;0.98	4.44	3.39	0.38822	Polysaccharide deacetylase (1);	0.327772	0.26684	N	0.023025	T	0.33556	0.0867	L	0.50333	1.59	0.36035	D	0.839652	B;B	0.20459	0.01;0.045	B;B	0.26614	0.012;0.071	T	0.29971	-0.9994	10	0.30854	T	0.27	-9.8816	5.7728	0.18263	0.1937:0.7072:0.0:0.0991	.	20;20	A8MPS7-2;A8MPS7	.;YDJC_HUMAN	P	20	ENSP00000292778:R20P;ENSP00000381847:R20P	ENSP00000292778:R20P	R	-	2	0	YDJC	20314245	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	2.454000	0.44979	1.190000	0.43042	0.639000	0.83563	CGA		0.716	YDJC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320213.1			6	21	0	0	0	1	0	6	21				
STAT5A	6776	broad.mit.edu	37	17	40453429	40453429	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:40453429G>A	ENST00000345506.4	+	10	1768	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	STAT5A_ENST00000588868.1_Missense_Mutation_p.E376K|STAT5A_ENST00000546010.2_Missense_Mutation_p.E346K|STAT5A_ENST00000452307.2_Missense_Mutation_p.E376K|STAT5A_ENST00000590949.1_Missense_Mutation_p.E376K	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	376					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CATCATCAGTGAGCAGCAGGC	0.587																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1126-1128)Gag>Aag		signal transducer and activator of transcription 5A							126.0	108.0	114.0					17																	40453429		2203	4300	6503	SO:0001583	missense	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40453429G>A	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1126G>A	17.37:g.40453429G>A	ENSP00000341208:p.Glu376Lys					STAT5A_ENST00000546010.2_Missense_Mutation_p.E346K|STAT5A_ENST00000590949.1_Missense_Mutation_p.E376K|STAT5A_ENST00000588868.1_Missense_Mutation_p.E376K|STAT5A_ENST00000452307.2_Missense_Mutation_p.E376K	p.E376K	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	10	1768	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	376					Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	c.1126G>A	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182420	0.94885	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	D;D;D	0.89810	-2.57;-2.57;-2.57	4.6	4.6	0.57074	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92932	0.7751	L	0.61387	1.9	0.80722	D	1	P;P;D	0.67145	0.873;0.95;0.996	P;D;D	0.64144	0.502;0.922;0.921	D	0.93966	0.7245	10	0.87932	D	0	-8.5545	17.4923	0.87708	0.0:0.0:1.0:0.0	.	346;378;376	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	K	376;346;378;376	ENSP00000341208:E376K;ENSP00000443107:E346K;ENSP00000400320:E376K	ENSP00000341208:E376K	E	+	1	0	STAT5A	37706955	1.000000	0.71417	0.994000	0.49952	0.927000	0.56198	9.780000	0.99024	2.122000	0.65172	0.306000	0.20318	GAG		0.587	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		16	99	0	0	0	1	0	16	99				
SMG1	23049	broad.mit.edu	37	16	18866198	18866198	+	Silent	SNP	G	G	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:18866198G>T	ENST00000446231.2	-	30	4675	c.4263C>A	c.(4261-4263)ctC>ctA	p.L1421L	SMG1_ENST00000389467.3_Silent_p.L1421L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1421	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				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						CTAATTCCATGAGATGGCTTC	0.418																																						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.(4261-4263)ctC>ctA		SMG1 phosphatidylinositol 3-kinase-related kinase							127.0	117.0	120.0					16																	18866198		1895	4126	6021	SO:0001819	synonymous_variant	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.chr16:18866198G>T	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.4263C>A	16.37:g.18866198G>T						SMG1_ENST00000389467.3_Silent_p.L1421L	p.L1421L			Q96Q15	SMG1_HUMAN			30	4675	-			1421			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.4263C>A	CCDS45430.1																																																																																				0.418	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		13	101	1	0	0.000151284	1	0.000157668	13	101				
CAND1	55832	broad.mit.edu	37	12	67692788	67692788	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:67692788C>G	ENST00000545606.1	+	7	1350	c.913C>G	c.(913-915)Ctt>Gtt	p.L305V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	305					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCTTAAATATCTTACCTATGA	0.318																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(913-915)Ctt>Gtt		cullin-associated and neddylation-dissociated 1							72.0	70.0	70.0					12																	67692788		2199	4298	6497	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67692788C>G		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.913C>G	12.37:g.67692788C>G	ENSP00000442318:p.Leu305Val						p.L305V	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	7	1350	+			305					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.913C>G	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509253	0.27036	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047;ENST00000544619	T;T	0.72505	-0.66;-0.66	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	L	0.41824	1.3	0.80722	D	1	B	0.19706	0.038	B	0.16289	0.015	T	0.54721	-0.8251	9	.	.	.	-14.5199	12.5099	0.56000	0.0:0.9228:0.0:0.0772	.	305	Q86VP6	CAND1_HUMAN	V	305;305;147;13	ENSP00000442318:L305V;ENSP00000444089:L13V	.	L	+	1	0	CAND1	65979055	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.628000	0.37060	2.601000	0.87937	0.655000	0.94253	CTT		0.318	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		4	37	0	0	0	1	0	4	37				
PCDH20	64881	broad.mit.edu	37	13	61986443	61986443	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr13:61986443G>A	ENST00000409186.1	-	5	3894	c.1789C>T	c.(1789-1791)Ctg>Ttg	p.L597L	PCDH20_ENST00000409204.4_Silent_p.L597L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	597	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCTCGGTCCAGCTGAGTAGAA	0.473																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1789-1791)Ctg>Ttg		protocadherin 20							104.0	102.0	103.0					13																	61986443		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986443G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1789C>T	13.37:g.61986443G>A						PCDH20_ENST00000409204.4_Silent_p.L597L	p.L597L			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3894	-		Breast(118;0.195)|Prostate(109;0.229)	570			Cadherin 4.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.1789C>T	CCDS9442.2																																																																																				0.473	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		23	57	0	0	0	1	0	23	57				
GRIN2B	2904	broad.mit.edu	37	12	13716095	13716095	+	Silent	SNP	G	G	A	rs375217280		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:13716095G>A	ENST00000609686.1	-	13	4286	c.4077C>T	c.(4075-4077)gcC>gcT	p.A1359A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1359					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTGATGTCCGGCAGTGGGCA	0.587																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(4075-4077)gcC>gcT		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						58.0	55.0	56.0					12																	13716095		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716095G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.4077C>T	12.37:g.13716095G>A							p.A1359A	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	4286	-			1359					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.4077C>T	CCDS8662.1																																																																																				0.587	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			31	35	0	0	0	1	0	31	35				
CREBBP	1387	broad.mit.edu	37	16	3900963	3900963	+	Missense_Mutation	SNP	T	T	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:3900963T>C	ENST00000262367.5	-	2	942	c.133A>G	c.(133-135)Ata>Gta	p.I45V	CREBBP_ENST00000382070.3_Missense_Mutation_p.I45V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	45					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)			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)		CCATTGGGTATCAGCTCATCA	0.408			"""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 """		0				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.(133-135)Ata>Gta		CREB binding protein							80.0	76.0	77.0					16																	3900963		2197	4300	6497	SO:0001583	missense	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.chr16:3900963T>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.133A>G	16.37:g.3900963T>C	ENSP00000262367:p.Ile45Val					CREBBP_ENST00000382070.3_Missense_Mutation_p.I45V	p.I45V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	2	942	-		Ovarian(90;0.0266)	45					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.133A>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089676	0.55968	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.87966	-2.29;-2.32	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.92880	0.7735	M	0.72353	2.195	0.80722	D	1	B;D	0.65815	0.242;0.995	B;D	0.74674	0.339;0.984	D	0.93300	0.6676	10	0.66056	D	0.02	-26.3024	16.5446	0.84426	0.0:0.0:0.0:1.0	.	113;45	Q4LE28;Q92793	.;CBP_HUMAN	V	45;113;45	ENSP00000262367:I45V;ENSP00000371502:I45V	ENSP00000262367:I45V	I	-	1	0	CREBBP	3840964	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.503000	0.81632	2.311000	0.77944	0.533000	0.62120	ATA		0.408	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		17	93	0	0	0	1	0	17	93				
MYO5A	4644	broad.mit.edu	37	15	52659265	52659265	+	Silent	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr15:52659265G>C	ENST00000399231.3	-	23	3366	c.3123C>G	c.(3121-3123)ctC>ctG	p.L1041L	MYO5A_ENST00000553916.1_Silent_p.L1041L|MYO5A_ENST00000356338.6_Silent_p.L1041L|MYO5A_ENST00000399233.2_Silent_p.L1041L|MYO5A_ENST00000358212.6_Silent_p.L1041L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1041					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGCGGTGATTGAGGGCTTCTT	0.418																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(3121-3123)ctC>ctG		myosin VA (heavy chain 12, myoxin)							203.0	192.0	196.0					15																	52659265		1980	4153	6133	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52659265G>C		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3123C>G	15.37:g.52659265G>C						MYO5A_ENST00000358212.6_Silent_p.L1041L|MYO5A_ENST00000553916.1_Silent_p.L1041L|MYO5A_ENST00000356338.6_Silent_p.L1041L|MYO5A_ENST00000399233.2_Silent_p.L1041L	p.L1041L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	23	3366	-			1041					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.3123C>G	CCDS42037.1																																																																																				0.418	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		14	56	0	0	0	1	0	14	56				
ATG4D	84971	broad.mit.edu	37	19	10657529	10657529	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr19:10657529G>A	ENST00000309469.4	+	4	681	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	170					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.E170K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GACATGGGCCGAGGGCATGGG	0.647																																						ENST00000309469.4																			1	Substitution - Missense(1)	p.E170K(1)	lung(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(508-510)Gag>Aag		autophagy related 4D, cysteine peptidase							40.0	36.0	37.0					19																	10657529		2178	4250	6428	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10657529G>A	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.508G>A	19.37:g.10657529G>A	ENSP00000311318:p.Glu170Lys					ATG4D_ENST00000540862.1_Intron	p.E170K	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		4	681	+			170					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.508G>A	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977443	0.53720	.	.	ENSG00000130734	ENST00000309469	T	0.41400	1.0	4.82	0.0224	0.14133	.	0.488977	0.21278	N	0.077190	T	0.25121	0.0610	L	0.33137	0.985	0.09310	N	0.999999	B;P;B	0.51240	0.069;0.943;0.02	B;B;B	0.43838	0.045;0.433;0.027	T	0.29150	-1.0021	10	0.09338	T	0.73	-21.3698	6.1813	0.20472	0.2588:0.14:0.6013:0.0	.	107;193;170	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	K	170	ENSP00000311318:E170K	ENSP00000311318:E170K	E	+	1	0	ATG4D	10518529	0.700000	0.27796	0.020000	0.16555	0.394000	0.30568	0.919000	0.28692	0.169000	0.19679	0.561000	0.74099	GAG		0.647	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		34	41	0	0	0	1	0	34	41				
CNOT6L	246175	broad.mit.edu	37	4	78650133	78650133	+	Missense_Mutation	SNP	A	A	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr4:78650133A>G	ENST00000504123.1	-	10	1257	c.1127T>C	c.(1126-1128)aTg>aCg	p.M376T	CNOT6L_ENST00000264903.4_Missense_Mutation_p.M376T			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	376	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GACAAACATCATGGTCTGGAT	0.473																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1126-1128)aTg>aCg		CCR4-NOT transcription complex, subunit 6-like							124.0	118.0	120.0					4																	78650133		1869	4107	5976	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78650133A>G	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1127T>C	4.37:g.78650133A>G	ENSP00000424896:p.Met376Thr					CNOT6L_ENST00000264903.4_Missense_Mutation_p.M376T	p.M376T			Q96LI5	CNO6L_HUMAN			10	1257	-			376					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1127T>C		.	.	.	.	.	.	.	.	.	.	A	20.6	4.015437	0.75161	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.73	5.73	0.89815	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.86548	0.5959	M	0.64567	1.98	0.80722	D	1	D;P	0.54772	0.968;0.943	P;P	0.58520	0.84;0.811	D	0.87709	0.2565	10	0.66056	D	0.02	-4.4014	16.0115	0.80406	1.0:0.0:0.0:0.0	.	349;376	Q96LI5-2;Q96LI5	.;CNO6L_HUMAN	T	376;376;383;151	ENSP00000424896:M376T;ENSP00000264903:M376T;ENSP00000425571:M383T;ENSP00000426320:M151T	ENSP00000264903:M376T	M	-	2	0	CNOT6L	78869157	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.187000	0.69744	0.460000	0.39030	ATG		0.473	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			19	114	0	0	0	1	0	19	114				
ELL2	22936	broad.mit.edu	37	5	95234177	95234177	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:95234177G>C	ENST00000237853.4	-	8	1641	c.1292C>G	c.(1291-1293)tCt>tGt	p.S431C	ELL2_ENST00000431061.2_Missense_Mutation_p.S181C	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	431					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		AGAAGTCCTAGAGGTATATTT	0.448																																						ENST00000237853.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.(1291-1293)tCt>tGt		elongation factor, RNA polymerase II, 2							102.0	107.0	105.0					5																	95234177		2203	4300	6503	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95234177G>C	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1292C>G	5.37:g.95234177G>C	ENSP00000237853:p.Ser431Cys					ELL2_ENST00000431061.2_Missense_Mutation_p.S181C	p.S431C	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	8	1641	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	431					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.1292C>G	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255940	0.80135	.	.	ENSG00000118985	ENST00000237853;ENST00000431061	T;T	0.35048	1.83;1.33	5.35	5.35	0.76521	.	0.331335	0.35040	N	0.003486	T	0.55497	0.1924	L	0.60455	1.87	0.58432	D	0.999998	D	0.76494	0.999	P	0.62885	0.908	T	0.53258	-0.8464	10	0.45353	T	0.12	.	18.6513	0.91431	0.0:0.0:1.0:0.0	.	431	O00472	ELL2_HUMAN	C	431;181	ENSP00000237853:S431C;ENSP00000399704:S181C	ENSP00000237853:S431C	S	-	2	0	ELL2	95259933	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.017000	0.64047	2.491000	0.84063	0.484000	0.47621	TCT		0.448	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		84	85	0	0	0	1	0	84	85				
FGF17	8822	broad.mit.edu	37	8	21905600	21905600	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:21905600G>A	ENST00000359441.3	+	5	994	c.491G>A	c.(490-492)cGc>cAc	p.R164H	FGF17_ENST00000518533.1_Missense_Mutation_p.R153H|FGF17_ENST00000521709.1_3'UTR	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	164					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CAGGCTTCCCGCAGCCGCCAG	0.647																																						ENST00000359441.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						c.(490-492)cGc>cAc		fibroblast growth factor 17							22.0	24.0	24.0					8																	21905600		2203	4300	6503	SO:0001583	missense	8822				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr8:21905600G>A	AB009249	CCDS6019.1	8p21.3	2005-10-30			ENSG00000158815	ENSG00000158815			3673	protein-coding gene	gene with protein product		603725				9514906, 9751161	Standard	XM_005273675		Approved	FGF-13	uc003xag.3	O60258	OTTHUMG00000097051	ENST00000359441.3:c.491G>A	8.37:g.21905600G>A	ENSP00000352414:p.Arg164His					FGF17_ENST00000518533.1_Missense_Mutation_p.R153H|FGF17_ENST00000521709.1_3'UTR	p.R164H	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN		Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)	5	994	+			164					B7ZLG4|Q2M2W1	Missense_Mutation	SNP	ENST00000359441.3	37	c.491G>A	CCDS6019.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404142	0.62288	.	.	ENSG00000158815	ENST00000518533;ENST00000359441	D;D	0.82893	-1.66;-1.66	5.06	4.19	0.49359	.	0.060883	0.64402	D	0.000008	D	0.87529	0.6200	M	0.62016	1.91	0.44771	D	0.997773	B;D	0.89917	0.191;1.0	B;D	0.74023	0.105;0.982	D	0.86794	0.1987	10	0.62326	D	0.03	-23.1485	7.7941	0.29138	0.1895:0.0:0.8105:0.0	.	153;164	O60258-2;O60258	.;FGF17_HUMAN	H	153;164	ENSP00000431041:R153H;ENSP00000352414:R164H	ENSP00000352414:R164H	R	+	2	0	FGF17	21961546	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	2.725000	0.47294	1.144000	0.42321	-0.136000	0.14681	CGC		0.647	FGF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214154.2	NM_003867		14	10	0	0	0	1	0	14	10				
USP36	57602	broad.mit.edu	37	17	76798577	76798577	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:76798577C>T	ENST00000542802.3	-	17	3294	c.2851G>A	c.(2851-2853)Gag>Aag	p.E951K	USP36_ENST00000449938.2_Missense_Mutation_p.E556K|USP36_ENST00000312010.6_Missense_Mutation_p.E951K			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	951					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTTGGAGACTCTTCCATGGCC	0.532																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2851-2853)Gag>Aag		ubiquitin specific peptidase 36							34.0	31.0	32.0					17																	76798577		2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76798577C>T	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2851G>A	17.37:g.76798577C>T	ENSP00000441214:p.Glu951Lys					USP36_ENST00000542802.2_Missense_Mutation_p.E951K|USP36_ENST00000449938.2_Missense_Mutation_p.E556K	p.E951K	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		17	3175	-			951					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.2851G>A	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	C	6.266	0.417220	0.11870	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.19250	3.14;2.16;3.14	5.03	3.04	0.35103	.	1.434770	0.04080	N	0.309537	T	0.16342	0.0393	N	0.22421	0.69	0.09310	N	1	P;P;B	0.37781	0.608;0.557;0.421	B;B;B	0.37943	0.261;0.167;0.154	T	0.27191	-1.0081	10	0.14252	T	0.57	-1.4986	9.1337	0.36861	0.0:0.8208:0.0:0.1792	.	951;951;556	Q9P275;Q9P275-2;E9PEW0	UBP36_HUMAN;.;.	K	951;556;951	ENSP00000310590:E951K;ENSP00000401119:E556K;ENSP00000441214:E951K	ENSP00000310590:E951K	E	-	1	0	USP36	74310172	0.007000	0.16637	0.000000	0.03702	0.050000	0.14768	1.615000	0.36922	0.533000	0.28675	0.563000	0.77884	GAG		0.532	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		10	39	0	0	0	1	0	10	39				
MAGEC2	51438	broad.mit.edu	37	X	141291308	141291308	+	Missense_Mutation	SNP	A	A	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:141291308A>G	ENST00000247452.3	-	3	813	c.466T>C	c.(466-468)Tac>Cac	p.Y156H		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	156	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCTTCGTATTTGAGGAGC	0.478										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(466-468)Tac>Cac		melanoma antigen family C, 2							142.0	138.0	139.0					X																	141291308		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291308A>G	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.466T>C	X.37:g.141291308A>G	ENSP00000354660:p.Tyr156His	HNSCC(46;0.14)					p.Y156H	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	813	-	Acute lymphoblastic leukemia(192;6.56e-05)		156			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.466T>C	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	11.01	1.513711	0.27123	.	.	ENSG00000046774	ENST00000247452	T	0.05025	3.51	1.13	1.13	0.20643	.	0.065611	0.56097	U	0.000026	T	0.21801	0.0525	M	0.89478	3.035	0.09310	N	1	D	0.71674	0.998	D	0.80764	0.994	T	0.02632	-1.1131	10	0.54805	T	0.06	.	4.1637	0.10296	1.0:0.0:0.0:0.0	.	156	Q9UBF1	MAGC2_HUMAN	H	156	ENSP00000354660:Y156H	ENSP00000354660:Y156H	Y	-	1	0	MAGEC2	141118974	0.010000	0.17322	0.001000	0.08648	0.001000	0.01503	0.918000	0.28678	0.708000	0.31955	0.372000	0.22366	TAC		0.478	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		50	262	0	0	0	1	0	50	262				
SLC12A8	84561	broad.mit.edu	37	3	124906188	124906188	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:124906188C>T	ENST00000393469.4	-	3	332	c.283G>A	c.(283-285)Gtc>Atc	p.V95I	SLC12A8_ENST00000469902.1_Missense_Mutation_p.V95I|SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000423114.2_Missense_Mutation_p.V124I	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	95					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						CGCTCCCCGACGCCAATGCCA	0.622																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(370-372)Gtc>Atc		solute carrier family 12, member 8							65.0	88.0	80.0					3																	124906188		2171	4281	6452	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124906188C>T		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.283G>A	3.37:g.124906188C>T	ENSP00000377112:p.Val95Ile					SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.V95I|SLC12A8_ENST00000393469.4_Missense_Mutation_p.V95I	p.V124I			A0AV02	S12A8_HUMAN			4	369	-			95					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.370G>A	CCDS43143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.79|11.79	1.743303|1.743303	0.30865|0.30865	.|.	.|.	ENSG00000221955|ENSG00000221955	ENST00000479826|ENST00000393469;ENST00000423114;ENST00000469902;ENST00000462437	T|D;D;D;D	0.78816|0.98602	-1.21|-5.02;-5.02;-5.02;-5.02	5.06|5.06	2.32|2.32	0.28847|0.28847	.|Amino acid permease domain (1);	.|.	.|.	.|.	.|.	D|D	0.90003|0.90003	0.6879|0.6879	N|N	0.01424|0.01424	-0.875|-0.875	0.80722|0.80722	D|D	1|1	.|B;B	.|0.24882	.|0.046;0.113	.|B;B	.|0.25614	.|0.022;0.062	D|D	0.84206|0.84206	0.0453|0.0453	6|9	.|0.02654	.|T	.|1	.|.	10.3994|10.3994	0.44220|0.44220	0.0:0.8023:0.0:0.1977|0.0:0.8023:0.0:0.1977	.|.	.|124;95	.|A0AV02-2;A0AV02	.|.;S12A8_HUMAN	H|I	54|95;124;95;63	ENSP00000420197:R54H|ENSP00000377112:V95I;ENSP00000404243:V124I;ENSP00000418783:V95I;ENSP00000418636:V63I	.|ENSP00000377112:V95I	R|V	-|-	2|1	0|0	SLC12A8|SLC12A8	126388878|126388878	0.997000|0.997000	0.39634|0.39634	0.004000|0.004000	0.12327|0.12327	0.472000|0.472000	0.32918|0.32918	3.629000|3.629000	0.54266|0.54266	0.326000|0.326000	0.23384|0.23384	0.637000|0.637000	0.83480|0.83480	CGT|GTC		0.622	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		21	34	0	0	0	1	0	21	34				
ITIH6	347365	broad.mit.edu	37	X	54814982	54814982	+	Silent	SNP	C	C	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:54814982C>A	ENST00000218436.6	-	5	746	c.717G>T	c.(715-717)ggG>ggT	p.G239G	ITIH6_ENST00000498398.1_5'UTR	NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	239					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TGATGCCTGACCCAGAGATGG	0.572																																						ENST00000218436.6																			0											c.(715-717)ggG>ggT		inter-alpha-trypsin inhibitor heavy chain family, member 6							156.0	93.0	115.0					X																	54814982		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54814982C>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.717G>T	X.37:g.54814982C>A						ITIH6_ENST00000498398.1_5'UTR	p.G239G	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			5	746	-			239					A6NN03	Silent	SNP	ENST00000218436.6	37	c.717G>T	CCDS14361.1																																																																																				0.572	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		15	45	1	0	0.000219431	1	0.000227729	15	45				
CNTN6	27255	broad.mit.edu	37	3	1363491	1363491	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:1363491C>G	ENST00000446702.2	+	8	1546	c.919C>G	c.(919-921)Ctt>Gtt	p.L307V	CNTN6_ENST00000539053.1_Missense_Mutation_p.L235V|CNTN6_ENST00000350110.2_Missense_Mutation_p.L307V			Q9UQ52	CNTN6_HUMAN	contactin 6	307	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGGAAGAAACCTTGCAAAGGG	0.358																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(919-921)Ctt>Gtt		contactin 6							96.0	102.0	100.0					3																	1363491		2203	4298	6501	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1363491C>G	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.919C>G	3.37:g.1363491C>G	ENSP00000407822:p.Leu307Val					CNTN6_ENST00000539053.1_Missense_Mutation_p.L235V|CNTN6_ENST00000350110.2_Missense_Mutation_p.L307V	p.L307V			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	8	1546	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	307			Ig-like C2-type 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.919C>G	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	1.090	-0.664182	0.03428	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.66815	-0.23;-0.23;-0.23	5.9	3.96	0.45880	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.458215	0.18348	N	0.143941	T	0.35038	0.0918	N	0.02181	-0.65	0.24669	N	0.993429	B	0.16802	0.019	B	0.22386	0.039	T	0.21621	-1.0240	10	0.16420	T	0.52	.	6.7281	0.23369	0.3503:0.4351:0.2146:0.0	.	307	Q9UQ52	CNTN6_HUMAN	V	307;235;307	ENSP00000407822:L307V;ENSP00000442791:L235V;ENSP00000341882:L307V	ENSP00000341882:L307V	L	+	1	0	CNTN6	1338491	0.035000	0.19736	0.973000	0.42090	0.997000	0.91878	0.112000	0.15479	1.419000	0.47118	0.650000	0.86243	CTT		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		18	106	0	0	0	1	0	18	106				
TNIP1	10318	broad.mit.edu	37	5	150422172	150422172	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:150422172C>T	ENST00000389378.2	-	11	1651	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	TNIP1_ENST00000524280.1_Missense_Mutation_p.E355K|TNIP1_ENST00000315050.7_Missense_Mutation_p.E355K|TNIP1_ENST00000523200.1_Missense_Mutation_p.E355K|TNIP1_ENST00000523338.1_Missense_Mutation_p.E355K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E355K|TNIP1_ENST00000521591.1_Missense_Mutation_p.E355K|TNIP1_ENST00000522226.1_Missense_Mutation_p.E355K|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000520931.1_Missense_Mutation_p.E302K	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	355	Interaction with Shigella flexneri ipah9.8.|Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTCCCGCTCGGCCTCCAGG	0.572																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(1063-1065)Gag>Aag		TNFAIP3 interacting protein 1							58.0	51.0	53.0					5																	150422172		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150422172C>T	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1063G>A	5.37:g.150422172C>T	ENSP00000374029:p.Glu355Lys					TNIP1_ENST00000524280.1_Missense_Mutation_p.E355K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E355K|TNIP1_ENST00000523200.1_Missense_Mutation_p.E355K|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000523338.1_Missense_Mutation_p.E355K|TNIP1_ENST00000315050.7_Missense_Mutation_p.E355K|TNIP1_ENST00000522226.1_Missense_Mutation_p.E355K|TNIP1_ENST00000521591.1_Missense_Mutation_p.E355K|TNIP1_ENST00000520931.1_Missense_Mutation_p.E302K	p.E355K	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1651	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	355			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.1063G>A	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728562	0.89390	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840	T;T;T;T;T;T;T;T;T	0.61392	2.26;2.29;2.29;2.29;2.29;2.29;2.29;0.11;2.32	5.32	5.32	0.75619	.	0.044525	0.85682	D	0.000000	T	0.74981	0.3788	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D;D	0.69078	0.989;0.996;0.995;0.996;0.996;0.997;0.997	P;P;P;P;P;P;P	0.59487	0.634;0.754;0.734;0.754;0.754;0.858;0.79	T	0.76570	-0.2911	10	0.45353	T	0.12	-31.8758	18.6034	0.91257	0.0:1.0:0.0:0.0	.	355;309;309;355;355;355;355	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	K	302;355;355;355;312;312;317;355;355;355;355;355;312	ENSP00000429891:E302K;ENSP00000374029:E355K;ENSP00000317891:E355K;ENSP00000428243:E355K;ENSP00000428187:E355K;ENSP00000430760:E355K;ENSP00000430971:E355K;ENSP00000429912:E355K;ENSP00000431105:E355K	ENSP00000317891:E355K	E	-	1	0	TNIP1	150402365	1.000000	0.71417	0.952000	0.39060	0.604000	0.37047	7.569000	0.82380	2.489000	0.83994	0.655000	0.94253	GAG		0.572	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		8	45	0	0	0	1	0	8	45				
CXorf56	63932	broad.mit.edu	37	X	118678342	118678342	+	Missense_Mutation	SNP	T	T	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:118678342T>A	ENST00000371594.4	-	4	475	c.397A>T	c.(397-399)Act>Tct	p.T133S	CXorf56_ENST00000536133.1_Missense_Mutation_p.T119S|CXorf56_ENST00000469448.1_5'Flank|CXorf56_ENST00000320339.4_Missense_Mutation_p.T84S	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	133										cervix(1)|endometrium(2)|lung(7)	10						TGTTTCTGAGTATATATGTTC	0.403																																						ENST00000320339.4																			0				cervix(1)|endometrium(2)|lung(7)	10						c.(250-252)Act>Tct		chromosome X open reading frame 56							122.0	108.0	112.0					X																	118678342		2203	4300	6503	SO:0001583	missense	63932						protein binding	g.chrX:118678342T>A	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.397A>T	X.37:g.118678342T>A	ENSP00000360652:p.Thr133Ser					CXorf56_ENST00000371594.4_Missense_Mutation_p.T133S|CXorf56_ENST00000536133.1_Missense_Mutation_p.T119S|CXorf56_ENST00000486230.1_Missense_Mutation_p.T133S|CXorf56_ENST00000476164.1_Missense_Mutation_p.T133S	p.T84S	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN			4	521	-			133					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Missense_Mutation	SNP	ENST00000371594.4	37	c.250A>T	CCDS14579.1	.	.	.	.	.	.	.	.	.	.	T	8.466	0.856449	0.17106	.	.	ENSG00000018610	ENST00000486230;ENST00000320339;ENST00000371594;ENST00000536133;ENST00000476164	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	4.84	4.84	0.62591	.	0.187229	0.56097	D	0.000037	T	0.08980	0.0222	N	0.04508	-0.205	0.36003	D	0.837528	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14337	-1.0476	10	0.06625	T	0.88	-22.0746	12.736	0.57225	0.0:0.0:0.0:1.0	.	119;133	F5GWL7;Q9H5V9	.;CX056_HUMAN	S	133;84;133;119;133	ENSP00000420787:T133S;ENSP00000320345:T84S;ENSP00000360652:T133S;ENSP00000441786:T119S;ENSP00000420635:T133S	ENSP00000320345:T84S	T	-	1	0	CXorf56	118562370	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.501000	0.66950	1.596000	0.50062	0.441000	0.28932	ACT		0.403	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		43	245	0	0	0	1	0	43	245				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			2679							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		5	37	0	0	0	1	0	5	37				
ZNF585B	92285	broad.mit.edu	37	19	37677976	37677976	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr19:37677976C>G	ENST00000532828.2	-	5	714	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q	ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E100Q|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGAGTTTTTCTCCTGTAGGA	0.393																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(463-465)Gaa>Caa		zinc finger protein 585B							95.0	95.0	95.0					19																	37677976		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677976C>G	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.463G>C	19.37:g.37677976C>G	ENSP00000433773:p.Glu155Gln					ZNF585B_ENST00000531805.1_Missense_Mutation_p.E100Q|ZNF585B_ENST00000312908.5_Intron|ZNF585B_ENST00000527838.1_Intron|CTC-454I21.3_ENST00000585860.2_Intron	p.E155Q	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	714	-			155					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.463G>C	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	7.211	0.595499	0.13875	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.35236	1.32;1.32	2.93	2.93	0.34026	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.672857	0.12234	N	0.487126	T	0.52629	0.1746	M	0.70108	2.13	0.80722	D	1	D	0.63046	0.992	P	0.56434	0.798	T	0.58411	-0.7641	10	0.66056	D	0.02	.	13.0031	0.58687	0.0:1.0:0.0:0.0	.	155	Q52M93	Z585B_HUMAN	Q	100;155	ENSP00000436774:E100Q;ENSP00000433773:E155Q	ENSP00000436774:E100Q	E	-	1	0	ZNF585B	42369816	1.000000	0.71417	0.265000	0.24526	0.052000	0.14988	3.478000	0.53158	1.623000	0.50342	0.455000	0.32223	GAA		0.393	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		18	512	0	0	0	1	0	18	512				
DENND1A	57706	broad.mit.edu	37	9	126214554	126214554	+	Splice_Site	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:126214554C>T	ENST00000373624.2	-	17	1501		c.e17+1		DENND1A_ENST00000394219.3_Splice_Site|DENND1A_ENST00000394215.2_Splice_Site|DENND1A_ENST00000542603.1_Splice_Site|DENND1A_ENST00000373620.3_Splice_Site|DENND1A_ENST00000473039.1_Splice_Site|DENND1A_ENST00000373618.1_Splice_Site	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CCAGTACTTACGAACTTGTAG	0.378																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.e17+1		DENN/MADD domain containing 1A							169.0	141.0	151.0					9																	126214554		2203	4300	6503	SO:0001630	splice_region_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126214554C>T	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1299+1G>A	9.37:g.126214554C>T						DENND1A_ENST00000542603.1_Splice_Site|DENND1A_ENST00000373618.1_Splice_Site|DENND1A_ENST00000394215.2_Splice_Site|DENND1A_ENST00000373620.3_Splice_Site|DENND1A_ENST00000394219.3_Splice_Site|DENND1A_ENST00000473039.1_Splice_Site		NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			17	1501	-								A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Splice_Site	SNP	ENST00000373624.2	37		CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658699	0.88154	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4403	0.94817	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND1A	125254375	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.277000	0.78572	2.586000	0.87340	0.561000	0.74099	.		0.378	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820	Intron	10	99	0	0	0	1	0	10	99				
TRAF3IP1	26146	broad.mit.edu	37	2	239258006	239258006	+	Missense_Mutation	SNP	C	C	G	rs569480234		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:239258006C>G	ENST00000373327.4	+	12	1630	c.1408C>G	c.(1408-1410)Cgg>Ggg	p.R470G	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.R404G|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.R470G	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	470	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)		AGCCCCTCCCCGGGTCAAACG	0.507																																						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.(1408-1410)Cgg>Ggg		TNF receptor-associated factor 3 interacting protein 1							62.0	61.0	61.0					2																	239258006		2203	4300	6503	SO:0001583	missense	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239258006C>G	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.1408C>G	2.37:g.239258006C>G	ENSP00000362424:p.Arg470Gly					TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.R470G|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.R404G	p.R470G	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)	12	1630	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	470			DISC1-interaction domain.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.1408C>G	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148023	0.57151	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.28895	1.59;1.59;1.59	5.11	2.12	0.27331	.	0.205130	0.43110	D	0.000606	T	0.52484	0.1737	M	0.84683	2.71	0.42812	D	0.993969	D;D	0.76494	0.999;0.999	D;D	0.81914	0.989;0.995	T	0.51044	-0.8755	10	0.52906	T	0.07	-13.9441	6.606	0.22726	0.3258:0.5884:0.0:0.0858	.	404;470	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	G	404;470;470;404	ENSP00000375851:R404G;ENSP00000362424:R470G;ENSP00000375852:R470G	ENSP00000362424:R470G	R	+	1	2	TRAF3IP1	238922745	0.938000	0.31826	0.885000	0.34714	0.797000	0.45037	1.544000	0.36158	0.509000	0.28195	0.650000	0.86243	CGG		0.507	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		11	31	0	0	0	1	0	11	31				
FBXO39	162517	broad.mit.edu	37	17	6684174	6684174	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr17:6684174G>A	ENST00000321535.4	+	2	1117	c.987G>A	c.(985-987)ctG>ctA	p.L329L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	329										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GACCCACTCTGATAGATCTCC	0.542																																						ENST00000321535.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						c.(985-987)ctG>ctA		F-box protein 39							62.0	57.0	59.0					17																	6684174		2203	4300	6503	SO:0001819	synonymous_variant	162517							g.chr17:6684174G>A	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.987G>A	17.37:g.6684174G>A							p.L329L	NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN			2	1117	+			329						Silent	SNP	ENST00000321535.4	37	c.987G>A	CCDS11082.1																																																																																				0.542	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		12	55	0	0	0	1	0	12	55				
CTC-260E6.6	0	broad.mit.edu	37	19	20369957	20369957	+	RNA	SNP	A	A	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr19:20369957A>G	ENST00000593655.1	-	0	199																											TGCTTTCTGGAGGGTCTACTA	0.403																																						ENST00000593655.1																			0																																																			0							g.chr19:20369957A>G																													19.37:g.20369957A>G														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.403	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			5	54	0	0	0	1	0	5	54				
RSPRY1	89970	broad.mit.edu	37	16	57238645	57238645	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr16:57238645G>T	ENST00000537866.1	+	2	948	c.75G>T	c.(73-75)gaG>gaT	p.E25D	RSPRY1_ENST00000394420.4_Missense_Mutation_p.E25D			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	25						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CTCTCGAAGAGCACATAGCCC	0.502																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(73-75)gaG>gaT		ring finger and SPRY domain containing 1							207.0	212.0	210.0					16																	57238645		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57238645G>T	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.75G>T	16.37:g.57238645G>T	ENSP00000443176:p.Glu25Asp					RSPRY1_ENST00000394420.4_Missense_Mutation_p.E25D	p.E25D			Q96DX4	RSPRY_HUMAN			2	948	+			25					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.75G>T	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037039	0.35893	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.85088	-1.94;-1.94	5.12	0.721	0.18219	.	0.317321	0.29646	N	0.011574	T	0.63177	0.2489	N	0.08118	0	0.36917	D	0.891191	B;B	0.22146	0.065;0.002	B;B	0.16289	0.015;0.003	T	0.49123	-0.8972	10	0.39692	T	0.17	.	2.0738	0.03619	0.2335:0.2304:0.4214:0.1146	.	25;25	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	D	25	ENSP00000377942:E25D;ENSP00000443176:E25D	ENSP00000377942:E25D	E	+	3	2	RSPRY1	55796146	0.995000	0.38212	0.995000	0.50966	0.985000	0.73830	0.310000	0.19356	-0.019000	0.14055	0.655000	0.94253	GAG		0.502	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		11	166	1	0	0.000308642	1	0.000316326	11	166				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		16	8	0	0	0	1	0	16	8				
ANXA10	11199	broad.mit.edu	37	4	169060724	169060724	+	Missense_Mutation	SNP	A	A	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr4:169060724A>G	ENST00000359299.3	+	3	374	c.188A>G	c.(187-189)tAt>tGt	p.Y63C		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	63						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CAGAGCATGTATGGCCGGGTA	0.418																																						ENST00000359299.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16						c.(187-189)tAt>tGt		annexin A10							96.0	92.0	94.0					4																	169060724		2203	4300	6503	SO:0001583	missense	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169060724A>G	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.188A>G	4.37:g.169060724A>G	ENSP00000352248:p.Tyr63Cys						p.Y63C	NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	3	374	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	63					Q96IQ5|Q9UJV4	Missense_Mutation	SNP	ENST00000359299.3	37	c.188A>G	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.583206	0.28268	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.05139	3.49	5.8	0.417	0.16421	.	0.287591	0.30338	N	0.009854	T	0.09555	0.0235	M	0.85777	2.775	0.39185	D	0.962854	B	0.10296	0.003	B	0.12156	0.007	T	0.04752	-1.0929	10	0.72032	D	0.01	.	4.6488	0.12585	0.6135:0.0:0.1359:0.2507	.	63	Q9UJ72	ANX10_HUMAN	C	63	ENSP00000352248:Y63C	ENSP00000352248:Y63C	Y	+	2	0	ANXA10	169297299	0.958000	0.32768	0.025000	0.17156	0.002000	0.02628	1.528000	0.35985	-0.118000	0.11851	-0.441000	0.05720	TAT		0.418	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		9	22	0	0	0	1	0	9	22				
FRA10AC1	118924	broad.mit.edu	37	10	95458092	95458092	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:95458092C>T	ENST00000359204.4	-	3	336	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	FRA10AC1_ENST00000536233.1_Missense_Mutation_p.A47T|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.A47T|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.A47T	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	47						nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TGTTTATGGGCCACCTTTCCA	0.348																																						ENST00000359204.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						c.(139-141)Gcc>Acc		fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1							128.0	124.0	126.0					10																	95458092		2203	4300	6503	SO:0001583	missense	118924					nucleus	protein binding	g.chr10:95458092C>T	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.139G>A	10.37:g.95458092C>T	ENSP00000360488:p.Ala47Thr					FRA10AC1_ENST00000536233.1_Missense_Mutation_p.A47T|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.A47T|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.A47T	p.A47T	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN			3	336	-			47					C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	ENST00000359204.4	37	c.139G>A	CCDS7430.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328152	0.60743	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.25414	1.81;1.85;1.8;1.83	5.71	2.55	0.30701	.	0.314161	0.38381	N	0.001702	T	0.28001	0.0690	L	0.58810	1.83	0.43527	D	0.995804	P;P;B	0.41848	0.763;0.634;0.038	B;B;B	0.39840	0.311;0.178;0.033	T	0.29822	-0.9999	10	0.38643	T	0.18	2.4492	16.64	0.85069	0.0:0.6532:0.3468:0.0	.	47;47;47	F8WCS9;Q70Z53-2;Q70Z53	.;.;F10C1_HUMAN	T	47	ENSP00000360488:A47T;ENSP00000438405:A47T;ENSP00000360484:A47T;ENSP00000377660:A47T	ENSP00000360488:A47T	A	-	1	0	FRA10AC1	95448082	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	2.792000	0.47837	1.399000	0.46721	0.655000	0.94253	GCC		0.348	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246		22	63	0	0	0	1	0	22	63				
RAB35	11021	broad.mit.edu	37	12	120541715	120541715	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:120541715G>A	ENST00000229340.5	-	3	330	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	RAB35_ENST00000534951.1_Missense_Mutation_p.R48W	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	48					antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		TCCACGGTCCGGATCTTGAAA	0.622																																						ENST00000229340.5																			0				endometrium(1)|ovary(1)	2						c.(142-144)Cgg>Tgg		RAB35, member RAS oncogene family							97.0	110.0	105.0					12																	120541715		2202	4300	6502	SO:0001583	missense	11021				cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding	g.chr12:120541715G>A	X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"""RAB, member RAS oncogene"""	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.142C>T	12.37:g.120541715G>A	ENSP00000229340:p.Arg48Trp					RAB35_ENST00000534951.1_Missense_Mutation_p.R48W	p.R48W	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.248)	3	330	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		48					B2R6E0|B4E390	Missense_Mutation	SNP	ENST00000229340.5	37	c.142C>T	CCDS41846.1	.	.	.	.	.	.	.	.	.	.	G	36	5.678300	0.96764	.	.	ENSG00000111737	ENST00000229340;ENST00000427416;ENST00000534951;ENST00000538903	T;T;T	0.78126	-1.15;-1.15;-1.15	5.73	5.73	0.89815	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88654	0.6495	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.89027	0.3439	10	0.87932	D	0	.	19.9637	0.97259	0.0:0.0:1.0:0.0	.	48;48	B4E390;Q15286	.;RAB35_HUMAN	W	48	ENSP00000229340:R48W;ENSP00000441883:R48W;ENSP00000443994:R48W	ENSP00000229340:R48W	R	-	1	2	RAB35	119026098	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	9.865000	0.99609	2.718000	0.92993	0.650000	0.86243	CGG		0.622	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402599.2			33	38	0	0	0	1	0	33	38				
TRIM34	53840	broad.mit.edu	37	11	5655105	5655105	+	Silent	SNP	C	C	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:5655105C>A	ENST00000514226.1	+	3	832	c.495C>A	c.(493-495)atC>atA	p.I165I	TRIM6-TRIM34_ENST00000457787.2_Silent_p.I165I|TRIM34_ENST00000429814.2_Silent_p.I165I|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Silent_p.I519I	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	165					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCTGACATCAGAGAAGAGA	0.473																																						ENST00000354852.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(1555-1557)atC>atA									77.0	78.0	78.0					11																	5655105		2201	4297	6498	SO:0001819	synonymous_variant	445372					intracellular	zinc ion binding	g.chr11:5655105C>A	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.495C>A	11.37:g.5655105C>A						TRIM6-TRIM34_ENST00000457787.2_Silent_p.I165I|TRIM34_ENST00000429814.2_Silent_p.I165I|TRIM34_ENST00000514226.1_Silent_p.I165I|HBG2_ENST00000380259.2_Intron	p.I519I	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	9	1730	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	519					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Silent	SNP	ENST00000514226.1	37	c.1557C>A	CCDS31391.1																																																																																				0.473	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		6	40	1	0	0.0215528	1	0.0216404	6	40				
TLR8	51311	broad.mit.edu	37	X	12939373	12939373	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:12939373G>A	ENST00000218032.6	+	2	2301	c.2214G>A	c.(2212-2214)ctG>ctA	p.L738L	TLR8_ENST00000311912.5_Silent_p.L756L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	738					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TCAGTAGTCTGAAGCACCTCG	0.423																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2212-2214)ctG>ctA		toll-like receptor 8							119.0	112.0	114.0					X																	12939373		2203	4300	6503	SO:0001819	synonymous_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939373G>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2214G>A	X.37:g.12939373G>A						TLR8_ENST00000311912.5_Silent_p.L756L	p.L738L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	2301	+			738					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	c.2214G>A	CCDS14152.1																																																																																				0.423	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		24	187	0	0	0	1	0	24	187				
TIGD3	220359	broad.mit.edu	37	11	65124617	65124617	+	Silent	SNP	A	A	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:65124617A>G	ENST00000309880.5	+	2	1545	c.1338A>G	c.(1336-1338)gaA>gaG	p.E446E		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	446						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GGTGGTTTGAATGCAACAGCA	0.577																																						ENST00000309880.5																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(1336-1338)gaA>gaG		tigger transposable element derived 3							67.0	69.0	68.0					11																	65124617		2201	4297	6498	SO:0001819	synonymous_variant	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124617A>G		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1338A>G	11.37:g.65124617A>G							p.E446E	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	1545	+			446						Silent	SNP	ENST00000309880.5	37	c.1338A>G	CCDS8101.1																																																																																				0.577	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		28	49	0	0	0	1	0	28	49				
LRIT1	26103	broad.mit.edu	37	10	85997337	85997337	+	Silent	SNP	G	G	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:85997337G>T	ENST00000372105.3	-	2	249	c.228C>A	c.(226-228)ggC>ggA	p.G76G		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	76						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TGAAGGCCTCGCCAGGAACCC	0.701																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(226-228)ggC>ggA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							20.0	23.0	22.0					10																	85997337		2146	4234	6380	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85997337G>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.228C>A	10.37:g.85997337G>T							p.G76G	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			2	249	-			76					Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.228C>A	CCDS7373.1																																																																																				0.701	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		12	45	1	0	0.000978159	1	0.000998369	12	45				
COX15	1355	broad.mit.edu	37	10	101474348	101474348	+	Missense_Mutation	SNP	T	T	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr10:101474348T>G	ENST00000016171.5	-	9	1279	c.1229A>C	c.(1228-1230)aAa>aCa	p.K410T	COX15_ENST00000370483.5_Intron|CUTC_ENST00000493385.1_Intron|COX15_ENST00000497381.1_5'Flank			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	410					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TAAGAATCATTTTGGGACTCT	0.493																																						ENST00000016171.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(1228-1230)aAa>aCa		cytochrome c oxidase assembly homolog 15 (yeast)							77.0	79.0	78.0					10																	101474348		2203	4300	6503	SO:0001583	missense	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101474348T>G	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.1229A>C	10.37:g.101474348T>G	ENSP00000016171:p.Lys410Thr					CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Intron	p.K410T			Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	9	1279	-		Colorectal(252;0.234)	410					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	c.1229A>C	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718995	0.89205	.	.	ENSG00000014919	ENST00000016171	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.84266	0.5434	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87121	0.2191	9	0.87932	D	0	-16.5625	16.1587	0.81683	0.0:0.0:0.0:1.0	.	410	Q7KZN9	COX15_HUMAN	T	410	.	ENSP00000016171:K410T	K	-	2	0	COX15	101464338	1.000000	0.71417	0.986000	0.45419	0.881000	0.50899	7.233000	0.78125	2.223000	0.72356	0.459000	0.35465	AAA		0.493	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		8	44	0	0	0	1	0	8	44				
TRAK2	66008	broad.mit.edu	37	2	202245628	202245628	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:202245628G>C	ENST00000332624.3	-	16	2811	c.2383C>G	c.(2383-2385)Cga>Gga	p.R795G		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	795					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AGATGCACTCGAGGCTCAAAG	0.532																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(2383-2385)Cga>Gga		trafficking protein, kinesin binding 2							101.0	99.0	99.0					2																	202245628		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202245628G>C	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.2383C>G	2.37:g.202245628G>C	ENSP00000328875:p.Arg795Gly						p.R795G	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			16	2811	-			795	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.2383C>G	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147195	0.77888	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.48522	0.81	6.03	4.24	0.50183	Trafficking kinesin-binding protein domain (1);	0.248552	0.34088	N	0.004279	T	0.59293	0.2183	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.60234	-0.7303	10	0.62326	D	0.03	.	12.8654	0.57936	0.1316:0.0:0.8684:0.0	.	795	O60296	TRAK2_HUMAN	G	795;701	ENSP00000328875:R795G	ENSP00000328875:R795G	R	-	1	2	TRAK2	201953873	1.000000	0.71417	0.622000	0.29159	0.984000	0.73092	6.222000	0.72249	0.884000	0.36064	0.655000	0.94253	CGA		0.532	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		18	90	0	0	0	1	0	18	90				
CTSF	8722	broad.mit.edu	37	11	66335131	66335131	+	Silent	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr11:66335131G>C	ENST00000310325.5	-	3	424	c.315C>G	c.(313-315)ctC>ctG	p.L105L	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	105					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGAAGCTGCAGAGCTGGAGGG	0.607																																						ENST00000310325.5																			0				endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(313-315)ctC>ctG		cathepsin F							46.0	48.0	48.0					11																	66335131		2200	4295	6495	SO:0001819	synonymous_variant	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66335131G>C	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.315C>G	11.37:g.66335131G>C						CTSF_ENST00000533168.1_5'UTR	p.L105L	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN			3	424	-			105					B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	ENST00000310325.5	37	c.315C>G	CCDS8144.1																																																																																				0.607	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		7	45	0	0	0	1	0	7	45				
KLHL38	340359	broad.mit.edu	37	8	124664012	124664012	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:124664012G>C	ENST00000325995.7	-	1	1178	c.1155C>G	c.(1153-1155)atC>atG	p.I385M	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	385										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGATGGAGAAGATGAAGTTCT	0.557																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(1153-1155)atC>atG		kelch-like family member 38							68.0	68.0	68.0					8																	124664012		1990	4169	6159	SO:0001583	missense	340359							g.chr8:124664012G>C		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1155C>G	8.37:g.124664012G>C	ENSP00000321475:p.Ile385Met					CTD-2552K11.2_ENST00000524355.1_RNA	p.I385M	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	1178	-			385					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.1155C>G	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356169	0.41700	.	.	ENSG00000175946	ENST00000325995	D	0.85171	-1.95	5.18	3.38	0.38709	Kelch-type beta propeller (1);	0.092812	0.64402	D	0.000001	D	0.90445	0.7008	M	0.87381	2.88	0.39711	D	0.971328	D	0.69078	0.997	D	0.70227	0.968	D	0.87493	0.2428	10	0.30078	T	0.28	.	5.1616	0.15064	0.246:0.0:0.6091:0.1448	.	385	Q2WGJ6	KLH38_HUMAN	M	385	ENSP00000321475:I385M	ENSP00000321475:I385M	I	-	3	3	KLHL38	124733193	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.463000	0.35277	0.679000	0.31345	0.561000	0.74099	ATC		0.557	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			6	157	0	0	0	1	0	6	157				
GALNT10	55568	broad.mit.edu	37	5	153796440	153796440	+	Missense_Mutation	SNP	T	T	G			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:153796440T>G	ENST00000297107.6	+	12	1857	c.1720T>G	c.(1720-1722)Ttc>Gtc	p.F574V	SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.F247V|GALNT10_ENST00000377661.2_Missense_Mutation_p.F512V	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	574	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCATAGGATCTTCATGAACAC	0.488																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1720-1722)Ttc>Gtc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							165.0	144.0	151.0					5																	153796440		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153796440T>G	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1720T>G	5.37:g.153796440T>G	ENSP00000297107:p.Phe574Val					GALNT10_ENST00000377661.2_Missense_Mutation_p.F512V|GALNT10_ENST00000377657.3_Missense_Mutation_p.F247V|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA	p.F574V	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		12	1857	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	574			Ricin B-type lectin.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1720T>G	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.935926	0.73442	.	.	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.24151	1.87;1.87;1.87	5.76	4.59	0.56863	Ricin B-related lectin (1);Ricin B lectin (3);	0.043194	0.85682	D	0.000000	T	0.33177	0.0854	L	0.35644	1.08	0.49051	D	0.999744	D;P;B	0.58970	0.984;0.657;0.275	P;B;B	0.61201	0.885;0.265;0.165	T	0.03969	-1.0988	10	0.12766	T	0.61	.	12.2725	0.54714	0.1272:0.0:0.0:0.8727	.	512;245;574	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	V	574;512;247	ENSP00000297107:F574V;ENSP00000366889:F512V;ENSP00000366885:F247V	ENSP00000297107:F574V	F	+	1	0	GALNT10	153776633	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.765000	0.68834	0.987000	0.38709	0.533000	0.62120	TTC		0.488	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		7	91	0	0	0	1	0	7	91				
SLC4A2	6522	broad.mit.edu	37	7	150771302	150771302	+	Silent	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:150771302G>A	ENST00000485713.1	+	17	3752	c.2712G>A	c.(2710-2712)tcG>tcA	p.S904S	FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000310317.5_Silent_p.S822S|SLC4A2_ENST00000392826.2_Silent_p.S895S|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Silent_p.S904S|SLC4A2_ENST00000461735.1_Silent_p.S890S	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	904	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTGCTGTCGCTGGTGCTCA	0.667																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2710-2712)tcG>tcA		solute carrier family 4 (anion exchanger), member 2							28.0	33.0	32.0					7																	150771302		2202	4298	6500	SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150771302G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2712G>A	7.37:g.150771302G>A						SLC4A2_ENST00000413384.2_Silent_p.S904S|SLC4A2_ENST00000392826.2_Silent_p.S895S|SLC4A2_ENST00000310317.5_Silent_p.S822S|SLC4A2_ENST00000461735.1_Silent_p.S890S	p.S904S	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	3752	+			904			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.2712G>A	CCDS5917.1																																																																																				0.667	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		9	73	0	0	0	1	0	9	73				
KMT2D	8085	broad.mit.edu	37	12	49445325	49445325	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:49445325G>A	ENST00000301067.7	-	10	2140	c.2141C>T	c.(2140-2142)tCg>tTg	p.S714L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	714	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGACATGAGCGAGTCCTCCGG	0.682																																						ENST00000301067.7																			0											c.(2140-2142)tCg>tTg		lysine (K)-specific methyltransferase 2D							42.0	50.0	47.0					12																	49445325		2049	4189	6238	SO:0001583	missense	8085							g.chr12:49445325G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2141C>T	12.37:g.49445325G>A	ENSP00000301067:p.Ser714Leu						p.S714L	NM_003482.3	NP_003473.3					10	2140	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.2141C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524479	0.27299	.	.	ENSG00000167548	ENST00000301067	T	0.80214	-1.35	4.28	-4.7	0.03288	.	.	.	.	.	T	0.61489	0.2351	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51340	-0.8718	9	0.87932	D	0	.	7.5919	0.28025	0.3673:0.1228:0.5098:0.0	.	714	O14686	MLL2_HUMAN	L	714	ENSP00000301067:S714L	ENSP00000301067:S714L	S	-	2	0	MLL2	47731592	0.008000	0.16893	0.000000	0.03702	0.036000	0.12997	0.837000	0.27558	-0.569000	0.06030	0.313000	0.20887	TCG		0.682	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			29	152	0	0	0	1	0	29	152				
IL17RC	84818	broad.mit.edu	37	3	9974768	9974768	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr3:9974768C>T	ENST00000295981.3	+	19	2085	c.1867C>T	c.(1867-1869)Cgt>Tgt	p.R623C	CRELD1_ENST00000383811.3_5'Flank|IL17RC_ENST00000383812.4_Missense_Mutation_p.R537C|RP11-1020A11.1_ENST00000602411.1_RNA|IL17RC_ENST00000455057.1_Missense_Mutation_p.R520C|IL17RC_ENST00000413608.1_Missense_Mutation_p.R539C|CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.R552C|CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000416074.2_Missense_Mutation_p.R378C|CRELD1_ENST00000452070.1_5'Flank	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	623	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTGGAGCCGTCGTGAACTGAG	0.706											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1867-1869)Cgt>Tgt		interleukin 17 receptor C							12.0	14.0	13.0					3																	9974768		2191	4286	6477	SO:0001583	missense	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9974768C>T	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1867C>T	3.37:g.9974768C>T	ENSP00000295981:p.Arg623Cys		OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	661	IL17RC_ENST00000413608.1_Missense_Mutation_p.R539C|IL17RC_ENST00000455057.1_Missense_Mutation_p.R520C|IL17RC_ENST00000416074.2_Missense_Mutation_p.R378C|IL17RC_ENST00000383812.4_Missense_Mutation_p.R537C|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.R552C	p.R623C	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			19	2085	+			623			SEFIR.		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	c.1867C>T	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618651	0.66787	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	4.97	4.06	0.47325	SEFIR (1);	0.404576	0.24291	N	0.039812	T	0.47303	0.1438	L	0.53249	1.67	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	P;P;P;D;D;P;D;P	0.80764	0.878;0.894;0.894;0.926;0.926;0.83;0.994;0.869	T	0.21895	-1.0232	10	0.59425	D	0.04	-14.3402	10.8233	0.46617	0.1871:0.8129:0.0:0.0	.	378;520;522;539;378;537;623;552	F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;B4E008;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;I17RC_HUMAN;.	C	537;623;552;378;520;539	ENSP00000373323:R537C;ENSP00000295981:R623C;ENSP00000384969:R552C;ENSP00000395315:R378C;ENSP00000407894:R520C;ENSP00000396064:R539C	ENSP00000295981:R623C	R	+	1	0	IL17RC	9949768	0.000000	0.05858	0.402000	0.26371	0.644000	0.38419	0.538000	0.23160	2.311000	0.77944	0.561000	0.74099	CGT		0.706	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		5	17	0	0	0	1	0	5	17				
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr1:155886422_155886423delCT	ENST00000368321.3	-	12	1569_1570	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.R516fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	516							RNA binding (GO:0003723)	p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396																																						ENST00000368320.3																			1	Deletion - Frameshift(1)	p.R516fs*21(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1546-1548)gfs		KIAA0907																																				SO:0001589	frameshift_variant	22889							g.chr1:155886422_155886423delCT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1546_1547delAG	1.37:g.155886432_155886433delCT	ENSP00000357304:p.Arg516fs					KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs	p.R516fs			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		12	1571_1572	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		516					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	ENST00000368321.3	37	c.1546_1547delAG	CCDS30885.1																																																																																				0.396	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		8	150						8	150	---	---	---	---
CASP8	841	broad.mit.edu	37	2	202136345	202136348	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr2:202136345_202136348delGTAA	ENST00000432109.2	+	4	600		c.e4+1		CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000358485.4_Splice_Site	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						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)			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						TGATGACATGGTAAGACCTGGTAT	0.417										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				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.e3+1		caspase 8, apoptosis-related cysteine peptidase																																				SO:0001630	splice_region_variant	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.chr2:202136345_202136348delGTAA	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.411+1GTAA>-	2.37:g.202136345_202136348delGTAA		HNSCC(4;0.00038)				CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000432109.2_Splice_Site		NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			3	784	+								O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Splice_Site	DEL	ENST00000432109.2	37		CCDS2342.1																																																																																				0.417	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	Intron	14	45						14	45	---	---	---	---
UGT2A1	10941	broad.mit.edu	37	4	70504697	70504697	+	Intron	DEL	T	T	-	rs571556296	byFrequency	TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr4:70504697delT	ENST00000503640.1	-	1	771				UGT2A1_ENST00000512704.1_Intron|UGT2A2_ENST00000457664.2_Frame_Shift_Del_p.N221fs|UGT2A1_ENST00000514019.1_Frame_Shift_Del_p.N422fs|UGT2A1_ENST00000286604.4_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGATATGGTATTTTTAATCCT	0.398													TTTTT|TTTTT|TTTT|deletion	7	0.00139776	0.0053	0.0	5008	,	,		18444	0.0		0.0	False		,,,				2504	0.0					ENST00000457664.2																			0											c.(661-663)atfs					,	12,3564		2,8,1778	41.0	41.0	41.0		,	-1.8	0.2	4		41	5,7831		2,1,3915	no	intron,frameshift	UGT2A1,UGT2A2	NM_006798.2,NM_001105677.2	,	4,9,5693	A1A1,A1R,RR		0.0638,0.3356,0.149	,	,	70504697	17,11395	1847	4087	5934	SO:0001627	intron_variant	574537							g.chr4:70504697delT	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7950A>-	4.37:g.70504697delT						UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000514019.1_Frame_Shift_Del_p.N422fs|UGT2A1_ENST00000286604.4_Intron	p.N221fs	NM_001105677.2	NP_001099147.2					1	661	-								B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Frame_Shift_Del	DEL	ENST00000503640.1	37	c.662delA	CCDS3529.1																																																																																				0.398	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		8	38						8	38	---	---	---	---
LINC01331	104310351	broad.mit.edu	37	5	73726286	73726286	+	lincRNA	DEL	A	A	-	rs138317759	byFrequency	TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:73726286delA	ENST00000507781.1	-	0	422																											acagccacccaacgtgatgag	0.567													AA|AA|A|deletion	1519	0.303315	0.2874	0.379	5008	,	,		20006	0.253		0.2525	False		,,,				2504	0.3753					ENST00000507781.1																			0																																																			104310351							g.chr5:73726286delA																													5.37:g.73726286delA														0	422	-									RNA	DEL	ENST00000507781.1	37																																																																																						0.567	CTC-419K13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000368999.1			6	1						6	1	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150889584	150889602	+	Frame_Shift_Del	DEL	GTCTCCTGTGTAAGGATGA	GTCTCCTGTGTAAGGATGA	-			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr5:150889584_150889602delGTCTCCTGTGTAAGGATGA	ENST00000261800.5	-	21	12051_12069	c.12039_12057delTCATCCTTACACAGGAGAC	c.(12037-12057)cctcatccttacacaggagacfs	p.PHPYTGD4013fs	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4013	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGATTACCTGTCTCCTGTGTAAGGATGAGGGCAGTTAC	0.548																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(12037-12057)ccfs		FAT atypical cadherin 2																																				SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150889584_150889602delGTCTCCTGTGTAAGGATGA	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12039_12057delTCATCCTTACACAGGAGAC	5.37:g.150889584_150889602delGTCTCCTGTGTAAGGATGA	ENSP00000261800:p.Pro4013fs					CTC-251D13.1_ENST00000606930.1_RNA	p.PHPYTGD4013fs	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	12051_12069	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4013			EGF-like 2.		O75091|Q9NSR7	Frame_Shift_Del	DEL	ENST00000261800.5	37	c.12039_12057delTCATCCTTACACAGGAGAC	CCDS4317.1																																																																																				0.548	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		48	128						48	128	---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29910692	29910693	+	Frame_Shift_Ins	INS	-	-	A	rs41559716|rs281864736	byFrequency	TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr6:29910692_29910693insA	ENST00000396634.1	+	4	573_574	c.232_233insA	c.(232-234)cagfs	p.Q78fs	HLA-A_ENST00000376806.5_Frame_Shift_Ins_p.Q78fs|HLA-A_ENST00000376809.5_Frame_Shift_Ins_p.Q78fs|HLA-A_ENST00000376802.2_Frame_Shift_Ins_p.Q78fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)|p.Q78*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GTGGATAGAGCAGGAGGGGCCG	0.658									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)	p.Q78R(2)|p.Q78*(1)	upper_aerodigestive_tract(1)|lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)ggafs		major histocompatibility complex, class I, A																																				SO:0001589	frameshift_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910692_29910693insA	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233dupA	6.37:g.29910693_29910693dupA	ENSP00000379873:p.Gln78fs	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Frame_Shift_Ins_p.G78fs|HLA-A_ENST00000376809.5_Frame_Shift_Ins_p.G78fs|HLA-A_ENST00000376802.2_Frame_Shift_Ins_p.G78fs	p.G78fs			P30443	1A01_HUMAN			4	573_574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Ins	INS	ENST00000396634.1	37	c.232_233insA	CCDS34373.1																																																																																				0.658	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		9	48						9	48	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87968210	87968211	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr6:87968210_87968211insA	ENST00000369577.3	+	8	4906_4907	c.4863_4864insA	c.(4864-4866)aaafs	p.K1622fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.K1617fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1622						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTCATTTAAATAAAAAGGGAAA	0.381																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(4861-4866)aaaaaafs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968210_87968211insA	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4868dupA	6.37:g.87968215_87968215dupA	ENSP00000358590:p.Lys1622fs					ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.KK1616fs	p.KK1621fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	4906_4907	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1621					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Ins	INS	ENST00000369577.3	37	c.4863_4864insA	CCDS47457.1																																																																																				0.381	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		7	35						7	35	---	---	---	---
TRIM4	89122	broad.mit.edu	37	7	99489911	99489913	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr7:99489911_99489913delAGA	ENST00000355947.2	-	7	1505_1507	c.1376_1378delTCT	c.(1375-1380)ttctac>tac	p.F459del	TRIM4_ENST00000349062.2_In_Frame_Del_p.F433del	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	459	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.F459S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				ACAGCGCTGTAGAAGGAGACATT	0.532																																						ENST00000355947.2																			1	Substitution - Missense(1)	p.F459S(1)	ovary(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(1375-1380)tac>t		tripartite motif containing 4																																				SO:0001651	inframe_deletion	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99489911_99489913delAGA	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1376_1378delTCT	7.37:g.99489911_99489913delAGA	ENSP00000348216:p.Phe459del					TRIM4_ENST00000349062.2_In_Frame_Del_p.FY433del	p.FY459del	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN			7	1505_1507	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	459			B30.2/SPRY.		A4D298|Q75MK1|Q96F06|Q9C036	In_Frame_Del	DEL	ENST00000355947.2	37	c.1376_1378delTCT	CCDS5679.1																																																																																				0.532	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		45	165						45	165	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77754951	77754951	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr8:77754951delA	ENST00000521891.2	+	6	3903	c.3455delA	c.(3454-3456)gaafs	p.E1152fs	ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.E1117fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.E1126fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.E1117fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGGACGATGAAAAAGACACA	0.433										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(3454-3456)gafs		zinc finger homeobox 4							81.0	86.0	84.0					8																	77754951		1892	4091	5983	SO:0001589	frameshift_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77754951delA		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3455delA	8.37:g.77754951delA	ENSP00000430497:p.Glu1152fs	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.E1117fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.E1126fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.E1117fs	p.E1152fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		6	3903	+			1117					G3V138|Q18PS0|Q6ZN20	Frame_Shift_Del	DEL	ENST00000521891.2	37	c.3455delA	CCDS47878.2																																																																																				0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		2	4						2	4	---	---	---	---
GPR19	2842	broad.mit.edu	37	12	12814274	12814274	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr12:12814274delT	ENST00000540510.1	-	2	1301	c.1109delA	c.(1108-1110)aacfs	p.N370fs	GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs			P46093	GPR4_HUMAN	G protein-coupled receptor 19	332					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GCCAACGTAGTTTTTTTTGGC	0.398																																						ENST00000540510.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1108-1110)acfs		G protein-coupled receptor 19							195.0	181.0	186.0					12																	12814274		2203	4300	6503	SO:0001589	frameshift_variant	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12814274delT		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.1109delA	12.37:g.12814274delT	ENSP00000441832:p.Asn370fs					GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs	p.N370fs			Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	1301	-		Prostate(47;0.0802)	370					A8K3T3|B0M0K1|Q6NWM4	Frame_Shift_Del	DEL	ENST00000540510.1	37	c.1109delA	CCDS8652.1																																																																																				0.398	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		7	229						7	229	---	---	---	---
KDELC1	79070	broad.mit.edu	37	13	103443722	103443722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr13:103443722delT	ENST00000376004.4	-	5	1067	c.731delA	c.(730-732)aagfs	p.K245fs	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	245						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATTGGATTTCTTTTTTTCCAA	0.418																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(730-732)agfs		KDEL (Lys-Asp-Glu-Leu) containing 1							203.0	218.0	213.0					13																	103443722		2203	4300	6503	SO:0001589	frameshift_variant	79070					endoplasmic reticulum lumen		g.chr13:103443722delT	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.731delA	13.37:g.103443722delT	ENSP00000365172:p.Lys245fs					KDELC1_ENST00000460338.1_5'UTR	p.K245fs	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			5	1067	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		245					Q53HL3|Q9BVD2	Frame_Shift_Del	DEL	ENST00000376004.4	37	c.731delA	CCDS9504.1																																																																																				0.418	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			8	983						8	983	---	---	---	---
GOLGA6B	55889	broad.mit.edu	37	15	72957311	72957313	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr15:72957311_72957313delGAG	ENST00000421285.3	+	14	1528_1530	c.1528_1530delGAG	c.(1528-1530)gagdel	p.E513del	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	513						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TCTGGACAGTGAGGAGGAGGAGG	0.635																																						ENST00000421285.3																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1528-1530)del		golgin A6 family, member B				15,2317		3,9,1154						-0.8	0.0			8	86,2952		19,48,1452	no	coding	GOLGA6B	NM_018652.4		22,57,2606	A1A1,A1R,RR		2.8308,0.6432,1.8808				101,5269				SO:0001651	inframe_deletion	55889							g.chr15:72957311_72957313delGAG		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1528_1530delGAG	15.37:g.72957320_72957322delGAG	ENSP00000408132:p.Glu513del						p.E513del	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			14	1528_1530	+			513					A8MYY7	In_Frame_Del	DEL	ENST00000421285.3	37	c.1528_1530delGAG	CCDS10245.2																																																																																				0.635	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		2	4						2	4	---	---	---	---
KCTD1	284252	broad.mit.edu	37	18	24128325	24128327	+	Intron	DEL	TCC	TCC	-			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr18:24128325_24128327delTCC	ENST00000408011.3	-	1	545				KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000417602.1_In_Frame_Del_p.58_59EE>E	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ctcctcctcttcctcctcctcct	0.724																																						ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(172-177)gaa>ga		potassium channel tetramerization domain containing 1			,,	52,2828		6,40,1394					,,	-2.9	1.0			2	119,5745		14,91,2827	no	intron,coding,intron	KCTD1	NM_198991.2,NM_001142730.1,NM_001136205.1	,,	20,131,4221	A1A1,A1R,RR		2.0293,1.8056,1.9556	,,	,,		171,8573				SO:0001627	intron_variant	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24128325_24128327delTCC	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+527GGA>-	18.37:g.24128334_24128336delTCC						KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron	p.EE62del	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		1	173_175	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		0			BTB.		A8K1F5	In_Frame_Del	DEL	ENST00000408011.3	37	c.174_176delGGA	CCDS11888.1																																																																																				0.724	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		2	4						2	4	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chr19:36583666_36583668delGCA	ENST00000270301.7	+	19	2286_2288	c.2286_2288delGCA	c.(2284-2289)cggcag>cgg	p.Q766del	WDR62_ENST00000401500.2_In_Frame_Del_p.Q766del			O43379	WDR62_HUMAN	WD repeat domain 62	766					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2284-2289)cgg>cg		WD repeat domain 62																																				SO:0001651	inframe_deletion	284403				cerebral cortex development	nucleus		g.chr19:36583666_36583668delGCA	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2286_2288delGCA	19.37:g.36583675_36583677delGCA	ENSP00000270301:p.Gln766del					WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del	p.RQ762del	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		19	2321_2323	+	Esophageal squamous(110;0.162)		762					Q63HP9|Q659D7|Q8NBF7|Q96AD9	In_Frame_Del	DEL	ENST00000270301.7	37	c.2286_2288delGCA	CCDS33001.1																																																																																				0.616	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		7	663						7	663	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21670433	21670433	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RS-A6TO-01A-32D-A34J-08	TCGA-RS-A6TO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62fe6c-36a1-427c-bc96-9beb9f8468bb	56e2c4b0-114d-40f4-aa85-753b0df44efd	g.chrX:21670433delG	ENST00000379510.3	+	22	2935	c.2899delG	c.(2899-2901)gggfs	p.G967fs	CNKSR2_ENST00000425654.2_Frame_Shift_Del_p.G937fs	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	967					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGCCAGAGAAGGGGAAGTAGC	0.348																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2809-2811)ggfs		connector enhancer of kinase suppressor of Ras 2							81.0	70.0	74.0					X																	21670433		2203	4300	6503	SO:0001589	frameshift_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21670433delG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2899delG	X.37:g.21670433delG	ENSP00000368824:p.Gly967fs					CNKSR2_ENST00000379510.3_Frame_Shift_Del_p.G967fs	p.G937fs	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			21	3289	+			967					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Frame_Shift_Del	DEL	ENST00000379510.3	37	c.2809delG	CCDS14198.1																																																																																				0.348	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		37	106						37	106	---	---	---	---
