#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
APOB	338	broad.mit.edu	37	2	21231727	21231727	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:21231727C>A	ENST00000233242.1	-	26	8140	c.8013G>T	c.(8011-8013)aaG>aaT	p.K2671N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2671					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTGATGATCTTTACTTTCA	0.418																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8011-8013)aaG>aaT		apolipoprotein B	Atorvastatin(DB01076)						149.0	156.0	154.0					2																	21231727		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231727C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8013G>T	2.37:g.21231727C>A	ENSP00000233242:p.Lys2671Asn						p.K2671N	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8140	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2671					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8013G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953062	0.34471	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00808	5.67	5.23	3.43	0.39272	.	0.320980	0.26796	N	0.022445	T	0.01835	0.0058	M	0.62723	1.935	0.58432	D	0.999996	P	0.50272	0.933	P	0.44860	0.462	T	0.62562	-0.6828	10	0.56958	D	0.05	.	11.1922	0.48691	0.0:0.8512:0.0:0.1488	.	2671	P04114	APOB_HUMAN	N	2671	ENSP00000233242:K2671N	ENSP00000233242:K2671N	K	-	3	2	APOB	21085232	0.137000	0.22531	0.723000	0.30687	0.966000	0.64601	0.336000	0.19823	0.595000	0.29777	0.561000	0.74099	AAG		0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			18	137	1	0	2.35188e-11	1	2.77469e-11	18	137				
SPTB	6710	broad.mit.edu	37	14	65264532	65264532	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:65264532A>C	ENST00000389721.5	-	9	1129	c.1097T>G	c.(1096-1098)cTt>cGt	p.L366R	SPTB_ENST00000556626.1_Missense_Mutation_p.L366R|SPTB_ENST00000542895.1_Missense_Mutation_p.L366R|SPTB_ENST00000389720.3_Missense_Mutation_p.L366R|SPTB_ENST00000389722.3_Missense_Mutation_p.L366R	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	366					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GATGGTAAAAAGTAGAACTTC	0.423																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(1096-1098)cTt>cGt		spectrin, beta, erythrocytic							168.0	153.0	158.0					14																	65264532		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65264532A>C		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1097T>G	14.37:g.65264532A>C	ENSP00000374371:p.Leu366Arg					SPTB_ENST00000389720.3_Missense_Mutation_p.L366R|SPTB_ENST00000542895.1_Missense_Mutation_p.L366R|SPTB_ENST00000389721.5_Missense_Mutation_p.L366R|SPTB_ENST00000556626.1_Missense_Mutation_p.L366R	p.L366R	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	9	1150	-		all_lung(585;4.15e-09)	366					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.1097T>G	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.705123	0.89018	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.76891	0.4051	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83318	-0.0019	10	0.87932	D	0	.	15.4148	0.74956	1.0:0.0:0.0:0.0	.	366;370	P11277;Q59FP5	SPTB1_HUMAN;.	R	370;366;366;366;366;366	ENSP00000374372:L366R;ENSP00000451752:L366R;ENSP00000374371:L366R;ENSP00000443882:L366R;ENSP00000374370:L366R	ENSP00000374370:L366R	L	-	2	0	SPTB	64334285	1.000000	0.71417	0.875000	0.34327	0.964000	0.63967	9.339000	0.96797	2.281000	0.76405	0.528000	0.53228	CTT		0.423	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			8	94	0	0	0	1	0	8	94				
STK38L	23012	broad.mit.edu	37	12	27468247	27468247	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:27468247G>A	ENST00000389032.3	+	9	970	c.801G>A	c.(799-801)agG>agA	p.R267R	STK38L_ENST00000539577.1_Silent_p.R174R	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					ACTCAAAGAGGAAAGCAGAAA	0.338																																						ENST00000389032.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(799-801)agG>agA		serine/threonine kinase 38 like							65.0	71.0	69.0					12																	27468247		2203	4300	6503	SO:0001819	synonymous_variant	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27468247G>A	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.801G>A	12.37:g.27468247G>A						STK38L_ENST00000539577.1_Silent_p.R174R	p.R267R	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN			9	970	+	Colorectal(261;0.0847)		267			Protein kinase.			Silent	SNP	ENST00000389032.3	37	c.801G>A	CCDS31761.1																																																																																				0.338	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		11	35	0	0	0	1	0	11	35				
IGLV3-27	28791	broad.mit.edu	37	22	23010828	23010828	+	RNA	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr22:23010828C>T	ENST00000390304.2	+	0	71									immunoglobulin lambda variable 3-27																		TCCCCCTCCTCATTCTCTGCA	0.612																																						ENST00000390304.2																			0																																																			28791							g.chr22:23010828C>T	D86994		22q11.2	2012-02-08			ENSG00000211658	ENSG00000211658		"""Immunoglobulins / IGL locus"""	5910	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151171		22.37:g.23010828C>T														0	71	+									RNA	SNP	ENST00000390304.2	37																																																																																						0.612	IGLV3-27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321641.1	NG_000002		4	8	0	0	0	1	0	4	8				
ZBTB14	7541	broad.mit.edu	37	18	5291781	5291781	+	Silent	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr18:5291781A>G	ENST00000357006.4	-	4	764	c.426T>C	c.(424-426)agT>agC	p.S142S	ZBTB14_ENST00000400143.3_Silent_p.S142S	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	142					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										GGCAATACTTACTTTTGGACT	0.448																																						ENST00000357006.4																			0											c.(424-426)agT>agC		zinc finger and BTB domain containing 14							136.0	136.0	136.0					18																	5291781		2203	4300	6503	SO:0001819	synonymous_variant	7541							g.chr18:5291781A>G	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.426T>C	18.37:g.5291781A>G						ZBTB14_ENST00000400143.3_Silent_p.S142S	p.S142S	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1					4	764	-								O00403|Q2TB80	Silent	SNP	ENST00000357006.4	37	c.426T>C	CCDS11837.1																																																																																				0.448	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		22	95	0	0	0	1	0	22	95				
MYH2	4620	broad.mit.edu	37	17	10438615	10438615	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:10438615G>C	ENST00000245503.5	-	18	2426	c.2042C>G	c.(2041-2043)cCc>cGc	p.P681R	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.P681R|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	681	Actin-binding. {ECO:0000250}.|Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGTCTCATTGGGGATGATACA	0.413																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(2041-2043)cCc>cGc		myosin, heavy chain 2, skeletal muscle, adult							90.0	91.0	90.0					17																	10438615		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10438615G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2042C>G	17.37:g.10438615G>C	ENSP00000245503:p.Pro681Arg					MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.P681R|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.P681R	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			18	2426	-			681			Actin-binding (By similarity).|Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2042C>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144603	0.77888	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.89485	-2.52;-2.52	5.1	4.13	0.48395	Myosin head, motor domain (2);	0.000000	0.39146	U	0.001449	D	0.97470	0.9172	H	0.99974	5.145	0.58432	D	0.999999	D	0.63046	0.992	D	0.81914	0.995	D	0.98001	1.0360	10	0.87932	D	0	.	13.535	0.61643	0.075:0.0:0.925:0.0	.	681	Q9UKX2	MYH2_HUMAN	R	681	ENSP00000245503:P681R;ENSP00000380367:P681R	ENSP00000245503:P681R	P	-	2	0	MYH2	10379340	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.631000	0.98424	1.368000	0.46115	0.591000	0.81541	CCC		0.413	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		9	31	0	0	0	1	0	9	31				
B3GNT5	84002	broad.mit.edu	37	3	182987743	182987743	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:182987743A>C	ENST00000326505.3	+	2	687	c.157A>C	c.(157-159)Aat>Cat	p.N53H	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.N53H|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.N53H	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	53					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATACCTCATAAATAGCTATGA	0.398																																						ENST00000326505.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(157-159)Aat>Cat		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5							125.0	122.0	123.0					3																	182987743		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182987743A>C	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.157A>C	3.37:g.182987743A>C	ENSP00000316173:p.Asn53His					MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.N53H|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.N53H|MCF2L2_ENST00000328913.3_Intron	p.N53H	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	687	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		53					D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.157A>C	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553395	0.65425	.	.	ENSG00000176597	ENST00000326505;ENST00000464191;ENST00000460419;ENST00000464923;ENST00000465010	T;T;T	0.39406	1.08;1.08;1.08	6.07	4.9	0.64082	.	0.102782	0.64402	D	0.000005	T	0.51092	0.1654	M	0.76002	2.32	0.52099	D	0.99994	D	0.57257	0.979	P	0.47744	0.556	T	0.57039	-0.7879	10	0.62326	D	0.03	.	13.5153	0.61537	0.8697:0.1303:0.0:0.0	.	53	Q9BYG0	B3GN5_HUMAN	H	53	ENSP00000316173:N53H;ENSP00000420778:N53H;ENSP00000417868:N53H	ENSP00000316173:N53H	N	+	1	0	B3GNT5	184470437	1.000000	0.71417	0.573000	0.28510	0.985000	0.73830	7.063000	0.76714	1.093000	0.41377	0.533000	0.62120	AAT		0.398	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		19	101	0	0	0	1	0	19	101				
APOBEC3G	60489	broad.mit.edu	37	22	39482340	39482340	+	Silent	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr22:39482340C>T	ENST00000407997.3	+	6	1149	c.792C>T	c.(790-792)gaC>gaT	p.D264D	APOBEC3G_ENST00000452957.2_Silent_p.D264D	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	264	CMP/dCMP deaminase zinc-binding 2.|Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GCTTCCTGGACGTGATTCCCT	0.498																																						ENST00000407997.3																			0				central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12						c.(790-792)gaC>gaT		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G							83.0	84.0	84.0					22																	39482340		2203	4300	6503	SO:0001819	synonymous_variant	60489							g.chr22:39482340C>T	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.792C>T	22.37:g.39482340C>T						APOBEC3G_ENST00000452957.2_Silent_p.D264D	p.D264D	NM_021822.3	NP_068594.1					6	1149	+	Melanoma(58;0.04)							B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Silent	SNP	ENST00000407997.3	37	c.792C>T	CCDS13984.1																																																																																				0.498	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		8	86	0	0	0	1	0	8	86				
ECEL1	9427	broad.mit.edu	37	2	233348831	233348831	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:233348831C>G	ENST00000304546.1	-	7	1497	c.1287G>C	c.(1285-1287)gaG>gaC	p.E429D	ECEL1_ENST00000409941.1_Missense_Mutation_p.E429D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	429					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)			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)		TGTCGCTGCCCTCCATCTCCT	0.627																																						ENST00000304546.1																			0				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.(1285-1287)gaG>gaC		endothelin converting enzyme-like 1							54.0	55.0	54.0					2																	233348831		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233348831C>G	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.1287G>C	2.37:g.233348831C>G	ENSP00000302051:p.Glu429Asp					ECEL1_ENST00000409941.1_Missense_Mutation_p.E429D	p.E429D	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)	7	1497	-		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)	429					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1287G>C	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	C	7.518	0.656172	0.14580	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	D;D	0.81996	-1.56;-1.56	5.46	4.58	0.56647	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.107616	0.64402	D	0.000008	T	0.68504	0.3008	N	0.15975	0.35	0.47819	D	0.999524	B;B	0.10296	0.001;0.003	B;B	0.12156	0.005;0.007	T	0.63328	-0.6662	10	0.44086	T	0.13	-35.4869	8.8134	0.34981	0.0:0.7744:0.0:0.2256	.	429;429	O95672-2;O95672	.;ECEL1_HUMAN	D	429	ENSP00000302051:E429D;ENSP00000386333:E429D	ENSP00000302051:E429D	E	-	3	2	ECEL1	233057075	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	2.409000	0.44583	1.317000	0.45149	-0.145000	0.13849	GAG		0.627	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		4	94	0	0	0	1	0	4	94				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			84809							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		8	25	0	0	0	1	0	8	25				
UBA3	9039	broad.mit.edu	37	3	69105055	69105055	+	Splice_Site	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:69105055G>T	ENST00000361055.4	-	17	1304	c.1250C>A	c.(1249-1251)tCg>tAg	p.S417*	UBA3_ENST00000415609.2_Splice_Site_p.S376*|UBA3_ENST00000540295.1_Splice_Site_p.S240*|UBA3_ENST00000349511.4_Splice_Site_p.S403*|CTD-2013N24.2_ENST00000595925.1_RNA	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	417	Interaction with UBE2M core domain.				cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		AGAGGTTACCGACTAGAAAAC	0.264																																						ENST00000361055.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.e17-1		ubiquitin-like modifier activating enzyme 3							128.0	138.0	135.0					3																	69105055		2202	4295	6497	SO:0001630	splice_region_variant	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69105055G>T	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.1249-1C>A	3.37:g.69105055G>T						UBA3_ENST00000415609.2_Splice_Site_p.S376_splice|CTD-2013N24.2_ENST00000595925.1_RNA|UBA3_ENST00000349511.4_Splice_Site_p.S403_splice|UBA3_ENST00000540295.1_Splice_Site_p.S240_splice	p.S417_splice	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	17	1304	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	417			Interaction with UBE2M core domain.		A6NLB5|A8K027|O76088|Q9NTU3	Splice_Site	SNP	ENST00000361055.4	37	c.1248_splice	CCDS2909.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179733	0.94846	.	.	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511;ENST00000540295	.	.	.	5.85	5.85	0.93711	.	0.116719	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0948	20.168	0.98156	0.0:0.0:1.0:0.0	.	.	.	.	X	376;417;403;240	.	ENSP00000340041:S403X	S	-	2	0	UBA3	69187745	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.560000	0.98139	2.761000	0.94854	0.650000	0.86243	TCG		0.264	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195	Nonsense_Mutation	15	43	1	0	6.31663e-08	1	7.20919e-08	15	43				
ATP13A5	344905	broad.mit.edu	37	3	193007714	193007714	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:193007714C>A	ENST00000342358.4	-	26	3100	c.2983G>T	c.(2983-2985)Gtg>Ttg	p.V995L	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	995						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGCTGCTTCACATAGAGAAAT	0.388																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2983-2985)Gtg>Ttg		ATPase type 13A5							76.0	74.0	75.0					3																	193007714		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193007714C>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2983G>T	3.37:g.193007714C>A	ENSP00000341942:p.Val995Leu					ATP13A5_ENST00000495496.1_5'UTR	p.V995L	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	26	3100	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		995					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.2983G>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585494	0.28268	.	.	ENSG00000187527	ENST00000342358	D	0.88431	-2.38	5.35	3.47	0.39725	.	0.083373	0.49916	N	0.000122	T	0.79446	0.4447	N	0.21508	0.67	0.31846	N	0.622887	B	0.10296	0.003	B	0.15870	0.014	T	0.73575	-0.3939	10	0.21014	T	0.42	-8.86	10.3891	0.44158	0.1508:0.7038:0.1454:0.0	.	995	Q4VNC0	AT135_HUMAN	L	995	ENSP00000341942:V995L	ENSP00000341942:V995L	V	-	1	0	ATP13A5	194490408	0.977000	0.34250	0.848000	0.33437	0.774000	0.43823	2.478000	0.45189	1.236000	0.43740	0.650000	0.86243	GTG		0.388	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		12	37	1	0	9.31168e-06	1	1.02919e-05	12	37				
DSCAML1	57453	broad.mit.edu	37	11	117376424	117376424	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:117376424C>T	ENST00000321322.6	-	9	1988	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E393K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	603	Ig-like C2-type 7.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGGGAATTCGAAGGGCTGG	0.637																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1987-1989)Gaa>Aaa		Down syndrome cell adhesion molecule like 1							61.0	51.0	54.0					11																	117376424		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117376424C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1987G>A	11.37:g.117376424C>T	ENSP00000315465:p.Glu663Lys					DSCAML1_ENST00000527706.1_Missense_Mutation_p.E393K	p.E663K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	9	1988	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	603			Ig-like C2-type 7.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1987G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	32	5.185409	0.94885	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.72167	-0.63;-0.63	5.06	5.06	0.68205	Immunoglobulin-like (1);	.	.	.	.	T	0.73297	0.3569	L	0.42245	1.32	0.80722	D	1	P	0.49635	0.926	P	0.51193	0.662	T	0.73272	-0.4035	9	0.42905	T	0.14	.	18.6076	0.91272	0.0:1.0:0.0:0.0	.	603	Q8TD84	DSCL1_HUMAN	K	393;663;370	ENSP00000434335:E393K;ENSP00000315465:E663K	ENSP00000315465:E663K	E	-	1	0	DSCAML1	116881634	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.651000	0.83577	2.621000	0.88768	0.491000	0.48974	GAA		0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		7	39	0	0	0	1	0	7	39				
SLC6A6	6533	broad.mit.edu	37	3	14508054	14508054	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:14508054G>A	ENST00000454876.2	+	7	1092	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	SLC6A6_ENST00000360861.3_Missense_Mutation_p.A255T			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	255					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TTTTCCATTCGCCATGCTCCT	0.597																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(763-765)Gcc>Acc		solute carrier family 6 (neurotransmitter transporter), member 6							115.0	93.0	100.0					3																	14508054		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14508054G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.763G>A	3.37:g.14508054G>A	ENSP00000398063:p.Ala255Thr					SLC6A6_ENST00000360861.3_Missense_Mutation_p.A255T	p.A255T			P31641	SC6A6_HUMAN			7	1092	+			255					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.763G>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313848	0.40996	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.74421	-0.84;-0.84	4.55	0.678	0.17969	.	0.372221	0.29653	N	0.011558	T	0.59169	0.2174	L	0.52905	1.665	0.30728	N	0.747507	P	0.38978	0.652	B	0.29862	0.108	T	0.60875	-0.7176	10	0.87932	D	0	.	4.4878	0.11799	0.2774:0.342:0.3806:0.0	.	255	P31641	SC6A6_HUMAN	T	255	ENSP00000398063:A255T;ENSP00000354107:A255T	ENSP00000354107:A255T	A	+	1	0	SLC6A6	14483058	0.843000	0.29541	0.028000	0.17463	0.491000	0.33493	1.074000	0.30703	0.296000	0.22592	0.491000	0.48974	GCC		0.597	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		33	78	0	0	0	1	0	33	78				
CUL4A	8451	broad.mit.edu	37	13	113888215	113888215	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr13:113888215A>G	ENST00000375440.4	+	7	764	c.680A>G	c.(679-681)tAt>tGt	p.Y227C	CUL4A_ENST00000326335.4_Missense_Mutation_p.Y127C|CUL4A_ENST00000451881.1_Missense_Mutation_p.Y127C|CUL4A_ENST00000375441.3_Missense_Mutation_p.Y127C	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	227					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TCTTAGGTGTATAAAGATTCA	0.413																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(379-381)tAt>tGt		cullin 4A							117.0	112.0	114.0					13																	113888215		2203	4300	6503	SO:0001583	missense	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113888215A>G	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.680A>G	13.37:g.113888215A>G	ENSP00000364589:p.Tyr227Cys					CUL4A_ENST00000375441.3_Missense_Mutation_p.Y127C|CUL4A_ENST00000326335.4_Missense_Mutation_p.Y127C|CUL4A_ENST00000375440.4_Missense_Mutation_p.Y227C	p.Y127C	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		7	629	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	227					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	c.380A>G	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191295	0.58017	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	4.76	4.76	0.60689	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97430	0.9159	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98951	1.0794	10	0.87932	D	0	-24.953	14.6001	0.68435	1.0:0.0:0.0:0.0	.	227;227	Q13619;A8MSH7	CUL4A_HUMAN;.	C	127;127;127;227	ENSP00000364590:Y127C;ENSP00000389118:Y127C;ENSP00000322132:Y127C;ENSP00000364589:Y227C	ENSP00000322132:Y127C	Y	+	2	0	CUL4A	112936216	1.000000	0.71417	0.961000	0.40146	0.389000	0.30415	9.117000	0.94347	1.894000	0.54839	0.459000	0.35465	TAT		0.413	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		11	33	0	0	0	1	0	11	33				
HIVEP3	59269	broad.mit.edu	37	1	42046795	42046795	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:42046795G>A	ENST00000372583.1	-	4	4559	c.3674C>T	c.(3673-3675)cCc>cTc	p.P1225L	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1225L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1225L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1225L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1225					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTATGGCATGGGGAGGAAGGA	0.587																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(3673-3675)cCc>cTc		human immunodeficiency virus type I enhancer binding protein 3							67.0	68.0	67.0					1																	42046795		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42046795G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3674C>T	1.37:g.42046795G>A	ENSP00000361664:p.Pro1225Leu					HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1225L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1225L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1225L	p.P1225L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	4688	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1225					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.3674C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387655	0.25031	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06218	3.34;3.33;3.33;3.34	4.87	4.87	0.63330	.	0.000000	0.49305	D	0.000154	T	0.06096	0.0158	L	0.27053	0.805	0.58432	D	0.999997	P;P	0.45715	0.865;0.787	B;B	0.42555	0.391;0.219	T	0.49588	-0.8924	10	0.28530	T	0.3	-0.5958	12.8596	0.57906	0.0:0.0:0.837:0.163	.	1225;1225	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	1225	ENSP00000361665:P1225L;ENSP00000361664:P1225L;ENSP00000247584:P1225L;ENSP00000410828:P1225L	ENSP00000247584:P1225L	P	-	2	0	HIVEP3	41819382	1.000000	0.71417	0.996000	0.52242	0.814000	0.46013	5.189000	0.65098	2.542000	0.85734	0.467000	0.42956	CCC		0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		13	105	0	0	0	1	0	13	105				
GPAT2	150763	broad.mit.edu	37	2	96690048	96690048	+	Silent	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:96690048C>T	ENST00000434632.1	-	17	2166	c.1707G>A	c.(1705-1707)ccG>ccA	p.P569P	FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Silent_p.P569P|GPAT2_ENST00000453542.1_Silent_p.P498P|GPAT2_ENST00000377137.3_Silent_p.P569P			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	569					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCCCCTGGGGCGGCACTCTGC	0.642																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1705-1707)ccG>ccA		glycerol-3-phosphate acyltransferase 2, mitochondrial							8.0	10.0	9.0					2																	96690048		1805	3911	5716	SO:0001819	synonymous_variant	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690048C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1707G>A	2.37:g.96690048C>T						GPAT2_ENST00000359548.4_Silent_p.P569P|GPAT2_ENST00000377137.3_Silent_p.P569P|GPAT2_ENST00000453542.1_Silent_p.P498P	p.P569P			Q6NUI2	GPAT2_HUMAN			17	2166	-			569					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	ENST00000434632.1	37	c.1707G>A	CCDS42714.1																																																																																				0.642	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		5	24	0	0	0	1	0	5	24				
ATP10B	23120	broad.mit.edu	37	5	160067536	160067536	+	Missense_Mutation	SNP	C	C	T	rs374878756		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:160067536C>T	ENST00000327245.5	-	10	1778	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	311					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCATGCGCCGCTCAATCTT	0.478																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(931-933)cGg>cAg		ATPase, class V, type 10B		C	GLN/ARG	1,4013		0,1,2006	188.0	189.0	189.0		932	5.4	1.0	5		189	0,8408		0,0,4204	no	missense	ATP10B	NM_025153.2	43	0,1,6210	TT,TC,CC		0.0,0.0249,0.0081	possibly-damaging	311/1462	160067536	1,12421	2007	4204	6211	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160067536C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.932G>A	5.37:g.160067536C>T	ENSP00000313600:p.Arg311Gln						p.R311Q	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1778	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	311					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.932G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027573	0.75390	2.49E-4	0.0	ENSG00000118322	ENST00000327245	D	0.91124	-2.79	5.41	5.41	0.78517	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92156	0.7513	M	0.84846	2.72	0.47341	D	0.999395	P;B;D;P	0.54397	0.924;0.157;0.966;0.536	P;B;P;B	0.46299	0.507;0.052;0.511;0.116	D	0.92577	0.6071	9	.	.	.	.	13.5202	0.61563	0.0:0.9226:0.0:0.0774	.	355;311;283;311	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	Q	311	ENSP00000313600:R311Q	.	R	-	2	0	ATP10B	160000114	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	3.244000	0.51399	2.547000	0.85894	0.650000	0.86243	CGG		0.478	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		44	127	0	0	0	1	0	44	127				
FOSL2	2355	broad.mit.edu	37	2	28631664	28631664	+	Silent	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:28631664G>C	ENST00000264716.4	+	3	1256	c.393G>C	c.(391-393)cgG>cgC	p.R131R	FOSL2_ENST00000379619.1_Silent_p.R106R|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000545753.1_Silent_p.R92R	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	131	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GCATCCGGCGGGAGAGGAACA	0.562																																						ENST00000264716.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(391-393)cgG>cgC		FOS-like antigen 2							36.0	36.0	36.0					2																	28631664		2203	4300	6503	SO:0001819	synonymous_variant	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28631664G>C		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.393G>C	2.37:g.28631664G>C						FOSL2_ENST00000379619.1_Silent_p.R106R|FOSL2_ENST00000545753.1_Silent_p.R92R|FOSL2_ENST00000460736.1_3'UTR	p.R131R	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN			3	1256	+	Acute lymphoblastic leukemia(172;0.155)		131					B2RD58|B3KP27|B4DYV4|Q6FG46	Silent	SNP	ENST00000264716.4	37	c.393G>C	CCDS1766.1																																																																																				0.562	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		3	32	0	0	0	1	0	3	32				
CYTIP	9595	broad.mit.edu	37	2	158300475	158300475	+	Missense_Mutation	SNP	C	C	A	rs200094703		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:158300475C>A	ENST00000264192.3	-	1	179	c.58G>T	c.(58-60)Gct>Tct	p.A20S	AC019201.1_ENST00000401235.1_RNA|CYTIP_ENST00000497432.1_Intron|CYTIP_ENST00000540637.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	20					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GCTGGCCCAGCGCAGAAGTCC	0.507																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(58-60)Gct>Tct		cytohesin 1 interacting protein							160.0	149.0	153.0					2																	158300475		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158300475C>A	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.58G>T	2.37:g.158300475C>A	ENSP00000264192:p.Ala20Ser					CYTIP_ENST00000497432.1_Intron|CYTIP_ENST00000540637.1_Intron	p.A20S	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			1	179	-			20					B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.58G>T	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	C	6.611	0.481078	0.12581	.	.	ENSG00000115165	ENST00000264192	T	0.17528	2.27	5.72	-7.48	0.01360	.	1.291780	0.04953	N	0.460646	T	0.07908	0.0198	N	0.24115	0.695	0.09310	N	0.999995	B	0.06786	0.001	B	0.09377	0.004	T	0.30357	-0.9981	10	0.26408	T	0.33	1.107	1.6025	0.02677	0.2044:0.1346:0.2019:0.4591	.	20	O60759	CYTIP_HUMAN	S	20	ENSP00000264192:A20S	ENSP00000264192:A20S	A	-	1	0	CYTIP	158008721	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.306000	0.02735	-1.125000	0.02932	-0.136000	0.14681	GCT		0.507	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		21	68	1	0	2.89027e-11	1	3.39082e-11	21	68				
FAM173B	134145	broad.mit.edu	37	5	10239183	10239183	+	Missense_Mutation	SNP	C	C	T	rs559270054		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:10239183C>T	ENST00000511437.1	-	2	314	c.302G>A	c.(301-303)cGc>cAc	p.R101H	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.R101H	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	101						integral component of membrane (GO:0016021)		p.R101L(1)|p.R101H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACTCACAATGCGTCCGTCCCC	0.398																																						ENST00000511437.1																			2	Substitution - Missense(2)	p.R101L(1)|p.R101H(1)	large_intestine(1)|lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						c.(301-303)cGc>cAc		family with sequence similarity 173, member B							112.0	109.0	110.0					5																	10239183		1981	4143	6124	SO:0001583	missense	134145					integral to membrane		g.chr5:10239183C>T		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.302G>A	5.37:g.10239183C>T	ENSP00000422338:p.Arg101His					FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.R101H	p.R101H	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN			2	314	-			101					B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	c.302G>A	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586693	0.66105	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.37752	1.18;1.18	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79831	-0.1637	10	0.87932	D	0	-24.1078	17.7316	0.88379	0.0:1.0:0.0:0.0	.	101;101	E9PBZ4;Q6P4H8	.;F173B_HUMAN	H	101	ENSP00000422338:R101H;ENSP00000420876:R101H	ENSP00000424210:R101H	R	-	2	0	FAM173B	10292183	1.000000	0.71417	0.098000	0.21074	0.140000	0.21249	6.966000	0.76073	2.430000	0.82344	0.655000	0.94253	CGC		0.398	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		13	78	0	0	0	1	0	13	78				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	53	0	0	0	1	0	4	53				
CTBS	1486	broad.mit.edu	37	1	85029038	85029038	+	Missense_Mutation	SNP	G	G	A	rs77922958	byFrequency	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:85029038G>A	ENST00000370630.5	-	6	907	c.859C>T	c.(859-861)Cgt>Tgt	p.R287C	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	287					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GGCACCTGACGTCCTGCAGCG	0.403													G|||	2	0.000399361	0.0015	0.0	5008	,	,		12173	0.0		0.0	False		,,,				2504	0.0					ENST00000370630.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(859-861)Cgt>Tgt		chitobiase, di-N-acetyl-		G	CYS/ARG	0,4406		0,0,2203	53.0	59.0	57.0		859	3.6	0.0	1	dbSNP_132	57	1,8599	1.2+/-3.3	0,1,4299	no	missense	CTBS	NM_004388.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	287/386	85029038	1,13005	2203	4300	6503	SO:0001583	missense	1486					lysosome	cation binding	g.chr1:85029038G>A	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.859C>T	1.37:g.85029038G>A	ENSP00000359664:p.Arg287Cys					CTBS_ENST00000477677.1_5'UTR	p.R287C	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	6	907	-			287					Q5VX50	Missense_Mutation	SNP	ENST00000370630.5	37	c.859C>T	CCDS698.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.58	3.162815	0.57368	0.0	1.16E-4	ENSG00000117151	ENST00000370630	T	0.05649	3.41	5.5	3.62	0.41486	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.942403	0.09017	N	0.860642	T	0.07548	0.0190	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	P	0.59703	0.862	T	0.32161	-0.9917	10	0.52906	T	0.07	-1.447	6.1849	0.20491	0.1404:0.0:0.6033:0.2562	.	287	Q01459	DIAC_HUMAN	C	287	ENSP00000359664:R287C	ENSP00000359659:R196C	R	-	1	0	CTBS	84801626	0.001000	0.12720	0.000000	0.03702	0.858000	0.48976	0.837000	0.27558	0.692000	0.31613	0.650000	0.86243	CGT		0.403	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		4	51	0	0	0	1	0	4	51				
EBF3	253738	broad.mit.edu	37	10	131755566	131755566	+	Silent	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:131755566A>G	ENST00000355311.5	-	6	582	c.510T>C	c.(508-510)tgT>tgC	p.C170C	EBF3_ENST00000368648.3_Silent_p.C170C			Q9H4W6	COE3_HUMAN	early B-cell factor 3	170					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTCTATTGCCACAACTTTTCT	0.388																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(508-510)tgT>tgC		early B-cell factor 3							145.0	135.0	139.0					10																	131755566		2203	4300	6503	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131755566A>G		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.510T>C	10.37:g.131755566A>G						EBF3_ENST00000355311.5_Silent_p.C170C	p.C170C	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	6	582	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	170					A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.510T>C																																																																																					0.388	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		8	78	0	0	0	1	0	8	78				
UGT3A1	133688	broad.mit.edu	37	5	35957444	35957444	+	Silent	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:35957444A>G	ENST00000274278.3	-	5	1278	c.921T>C	c.(919-921)caT>caC	p.H307H	UGT3A1_ENST00000507113.1_Silent_p.H273H|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.H307H	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	307						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTGGGACTGATGGGTGTTCA	0.488																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(919-921)caT>caC		UDP glycosyltransferase 3 family, polypeptide A1							117.0	99.0	105.0					5																	35957444		2203	4300	6503	SO:0001819	synonymous_variant	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35957444A>G		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.921T>C	5.37:g.35957444A>G						UGT3A1_ENST00000507113.1_Silent_p.H273H|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.H307H	p.H307H	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1278	-	all_lung(31;0.000197)		307					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP	ENST00000274278.3	37	c.921T>C	CCDS3913.1																																																																																				0.488	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		7	63	0	0	0	1	0	7	63				
EFCAB6	64800	broad.mit.edu	37	22	44063001	44063001	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr22:44063001C>T	ENST00000262726.7	-	17	2219	c.1966G>A	c.(1966-1968)Gtg>Atg	p.V656M	EFCAB6_ENST00000396231.2_Missense_Mutation_p.V504M	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	656	EF-hand 7. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AAGTCATGCACGTTAATTTTT	0.373																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1966-1968)Gtg>Atg		EF-hand calcium binding domain 6							181.0	173.0	176.0					22																	44063001		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44063001C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1966G>A	22.37:g.44063001C>T	ENSP00000262726:p.Val656Met					EFCAB6_ENST00000396231.2_Missense_Mutation_p.V504M	p.V656M	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			17	2219	-		Ovarian(80;0.0247)|all_neural(38;0.025)	656			EF-hand 7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1966G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	3.925	-0.017386	0.07681	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.45276	0.9;0.9	4.77	-9.54	0.00572	EF-hand-like domain (1);	4.062130	0.00496	N	0.000157	T	0.22166	0.0534	N	0.16478	0.41	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.14364	-1.0475	10	0.32370	T	0.25	3.7746	5.4141	0.16363	0.0735:0.2106:0.1703:0.5457	.	656	Q5THR3	EFCB6_HUMAN	M	504;656	ENSP00000379533:V504M;ENSP00000262726:V656M	ENSP00000262726:V656M	V	-	1	0	EFCAB6	42394334	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.221000	0.01216	-3.915000	0.00092	-0.982000	0.02568	GTG		0.373	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		14	65	0	0	0	1	0	14	65				
MFSD8	256471	broad.mit.edu	37	4	128878731	128878731	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:128878731C>T	ENST00000296468.3	-	3	206	c.79G>A	c.(79-81)Gag>Aag	p.E27K	MFSD8_ENST00000541133.1_5'UTR|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	27					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TCTTCAGTCTCTAAAATGTCC	0.299																																						ENST00000296468.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.(79-81)Gag>Aag		major facilitator superfamily domain containing 8							103.0	112.0	109.0					4																	128878731		2202	4297	6499	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128878731C>T	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.79G>A	4.37:g.128878731C>T	ENSP00000296468:p.Glu27Lys					MFSD8_ENST00000541133.1_5'UTR|MFSD8_ENST00000513559.1_5'UTR|MFSD8_ENST00000515130.1_5'UTR	p.E27K	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN			3	206	-			27					B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.79G>A	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600194	0.66332	.	.	ENSG00000164073	ENST00000296468	D	0.86097	-2.07	4.78	4.78	0.61160	Major facilitator superfamily domain, general substrate transporter (1);	0.460906	0.23904	N	0.043417	D	0.85716	0.5761	M	0.62723	1.935	0.80722	D	1	P;P	0.50443	0.932;0.935	P;P	0.47573	0.55;0.454	D	0.85534	0.1211	10	0.39692	T	0.17	-18.836	14.6841	0.69037	0.0:1.0:0.0:0.0	.	27;27	B7Z280;Q8NHS3	.;MFSD8_HUMAN	K	27	ENSP00000296468:E27K	ENSP00000296468:E27K	E	-	1	0	MFSD8	129098181	1.000000	0.71417	0.994000	0.49952	0.510000	0.34073	4.427000	0.59888	2.465000	0.83290	0.655000	0.94253	GAG		0.299	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		20	38	0	0	0	1	0	20	38				
STX17	55014	broad.mit.edu	37	9	102722405	102722405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:102722405C>T	ENST00000259400.6	+	6	686	c.550C>T	c.(550-552)Caa>Taa	p.Q184*	STX17_ENST00000525640.1_Nonsense_Mutation_p.Q184*|STX17_ENST00000534052.1_Nonsense_Mutation_p.Q184*|STX17_ENST00000525847.1_3'UTR	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	184	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TGAACTTAGCCAACTGGTCAC	0.333																																						ENST00000259400.6																			0				endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(550-552)Caa>Taa		syntaxin 17							138.0	137.0	137.0					9																	102722405		2203	4300	6503	SO:0001587	stop_gained	55014				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity	g.chr9:102722405C>T	AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.550C>T	9.37:g.102722405C>T	ENSP00000259400:p.Gln184*					STX17_ENST00000534052.1_Nonsense_Mutation_p.Q184*|STX17_ENST00000525847.1_3'UTR|STX17_ENST00000525640.1_Nonsense_Mutation_p.Q184*	p.Q184*	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN			6	686	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	184			t-SNARE coiled-coil homology.		Q4VXC2	Nonsense_Mutation	SNP	ENST00000259400.6	37	c.550C>T	CCDS6745.1	.	.	.	.	.	.	.	.	.	.	C	31	5.073434	0.94000	.	.	ENSG00000136874	ENST00000259400;ENST00000525640;ENST00000534052	.	.	.	5.97	5.97	0.96955	.	0.264120	0.43260	D	0.000593	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-6.2551	17.5763	0.87950	0.0:1.0:0.0:0.0	.	.	.	.	X	184	.	ENSP00000259400:Q184X	Q	+	1	0	STX17	101762226	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.573000	0.36472	2.832000	0.97577	0.655000	0.94253	CAA		0.333	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053398.3	NM_017919		12	60	0	0	0	1	0	12	60				
CHEK2	11200	broad.mit.edu	37	22	29107975	29107975	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr22:29107975G>A	ENST00000405598.1	-	7	905	c.714C>T	c.(712-714)ttC>ttT	p.F238F	CHEK2_ENST00000544772.1_Silent_p.F17F|CHEK2_ENST00000382580.2_Silent_p.F281F|CHEK2_ENST00000328354.6_Silent_p.F238F|CHEK2_ENST00000402731.1_Silent_p.F238F|CHEK2_ENST00000404276.1_Silent_p.F238F|CHEK2_ENST00000403642.1_Silent_p.F147F|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.F147F|CHEK2_ENST00000382566.1_Silent_p.F238F|CHEK2_ENST00000348295.3_Silent_p.F238F			O96017	CHK2_HUMAN	checkpoint kinase 2	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTTTCCTCTCGAAAGCCAGCT	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(49-51)ttC>ttT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							139.0	117.0	125.0					22																	29107975		2203	4299	6502	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29107975G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.714C>T	22.37:g.29107975G>A						CHEK2_ENST00000328354.6_Silent_p.F238F|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382580.2_Silent_p.F281F|CHEK2_ENST00000382578.1_Silent_p.F147F|CHEK2_ENST00000382566.1_Silent_p.F238F|CHEK2_ENST00000405598.1_Silent_p.F238F|CHEK2_ENST00000403642.1_Silent_p.F147F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.F238F|CHEK2_ENST00000348295.3_Silent_p.F238F|CHEK2_ENST00000402731.1_Silent_p.F238F	p.F17F	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			7	1487	-			238		A -> S (in an osteogenic sarcoma sample; somatic mutation; might influence susceptibility to breast cancer; does not cause protein abrogation in familial colorectal cancer).			A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.51C>T	CCDS13843.1																																																																																				0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	49	0	0	0	1	0	5	49				
GMNN	51053	broad.mit.edu	37	6	24781711	24781711	+	Missense_Mutation	SNP	G	G	T	rs150391376		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:24781711G>T	ENST00000230056.3	+	4	468	c.136G>T	c.(136-138)Gca>Tca	p.A46S	GMNN_ENST00000356509.3_Missense_Mutation_p.A46S	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	46					mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						ATAGCTGTCCGCAGGCTTGTC	0.343																																						ENST00000230056.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						c.(136-138)Gca>Tca		geminin, DNA replication inhibitor		G	SER/ALA	0,4406		0,0,2203	45.0	50.0	48.0		136	3.1	0.0	6	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	missense	GMNN	NM_015895.3	99	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	46/210	24781711	1,13005	2203	4300	6503	SO:0001583	missense	51053				M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding	g.chr6:24781711G>T	AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.136G>T	6.37:g.24781711G>T	ENSP00000230056:p.Ala46Ser					GMNN_ENST00000356509.3_Missense_Mutation_p.A46S	p.A46S	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN			4	468	+			46					B3KMM8|Q9H1Z1	Missense_Mutation	SNP	ENST00000230056.3	37	c.136G>T	CCDS4560.1	.	.	.	.	.	.	.	.	.	.	G	0.158	-1.084472	0.01888	0.0	1.16E-4	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054;ENST00000476555;ENST00000378059	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	5.49	3.09	0.35607	.	0.377733	0.33631	N	0.004713	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.19666	0.026	T	0.43686	-0.9376	10	0.42905	T	0.14	-1.8221	6.0461	0.19760	0.6992:0.1502:0.1506:0.0	.	46	O75496	GEMI_HUMAN	S	46	ENSP00000348902:A46S;ENSP00000230056:A46S;ENSP00000367293:A46S;ENSP00000419584:A46S;ENSP00000367298:A46S	ENSP00000230056:A46S	A	+	1	0	GMNN	24889690	0.414000	0.25408	0.013000	0.15412	0.000000	0.00434	1.430000	0.34914	0.443000	0.26582	-1.501000	0.00957	GCA		0.343	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040021.2	NM_015895		7	29	1	0	0.000157383	1	0.000168625	7	29				
OC90	729330	broad.mit.edu	37	8	133044222	133044222	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:133044222A>T	ENST00000443356.2	-	13	1071	c.985T>A	c.(985-987)Ttt>Att	p.F329I	OC90_ENST00000603859.1_Missense_Mutation_p.F313I|OC90_ENST00000262283.5_Missense_Mutation_p.F525I|OC90_ENST00000254627.3_Missense_Mutation_p.F313I			Q02509	OC90_HUMAN	otoconin 90	329	Phospholipase A2-like 2.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GTCAGACAAAAGAGCATCTCT	0.522																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(1573-1575)Ttt>Att		otoconin 90							110.0	109.0	109.0					8																	133044222		2047	4199	6246	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133044222A>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.985T>A	8.37:g.133044222A>T	ENSP00000390050:p.Phe329Ile					OC90_ENST00000603859.1_Missense_Mutation_p.F313I|OC90_ENST00000254627.3_Missense_Mutation_p.F313I|OC90_ENST00000443356.2_Missense_Mutation_p.F329I	p.F525I			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		16	1672	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		329					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.1573T>A		.	.	.	.	.	.	.	.	.	.	A	26.2	4.719080	0.89205	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26067	1.76;1.76;1.76	5.91	5.91	0.95273	Phospholipase A2 (3);	0.309128	0.37809	N	0.001935	T	0.41419	0.1158	L	0.52573	1.65	0.37352	D	0.910835	P;P	0.49783	0.912;0.928	P;P	0.59703	0.687;0.862	T	0.31586	-0.9938	10	0.30854	T	0.27	-22.6428	15.1723	0.72884	1.0:0.0:0.0:0.0	.	313;329	Q02509-2;Q02509	.;OC90_HUMAN	I	313;329;525	ENSP00000254627:F313I;ENSP00000390050:F329I;ENSP00000262283:F525I	ENSP00000254627:F313I	F	-	1	0	RP11-240B13.2;OC90	133113404	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.674000	0.68117	2.254000	0.74563	0.533000	0.62120	TTT		0.522	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		11	147	0	0	0	1	0	11	147				
POSTN	10631	broad.mit.edu	37	13	38164660	38164660	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr13:38164660G>T	ENST00000379747.4	-	4	407	c.290C>A	c.(289-291)cCc>cAc	p.P97H	POSTN_ENST00000541481.1_Missense_Mutation_p.P97H|POSTN_ENST00000379742.4_Missense_Mutation_p.P97H|POSTN_ENST00000379743.4_Missense_Mutation_p.P97H|POSTN_ENST00000541179.1_Missense_Mutation_p.P97H|POSTN_ENST00000379749.4_Missense_Mutation_p.P97H	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	97	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATGGTCAATGGGCAAAACTGA	0.428																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(289-291)cCc>cAc		periostin, osteoblast specific factor							78.0	73.0	75.0					13																	38164660		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38164660G>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.290C>A	13.37:g.38164660G>T	ENSP00000369071:p.Pro97His					POSTN_ENST00000541481.1_Missense_Mutation_p.P97H|POSTN_ENST00000379743.4_Missense_Mutation_p.P97H|POSTN_ENST00000379749.4_Missense_Mutation_p.P97H|POSTN_ENST00000541179.1_Missense_Mutation_p.P97H|POSTN_ENST00000379742.4_Missense_Mutation_p.P97H	p.P97H	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	4	407	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	97			FAS1 1.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.290C>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447904	0.84101	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.36	5.36	0.76844	FAS1 domain (2);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.997;1.0;0.999;1.0;0.999;1.0;0.999	D	0.96297	0.9218	10	0.59425	D	0.04	.	19.0894	0.93221	0.0:0.0:1.0:0.0	.	97;97;97;97;97;97;97	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	H	97;97;97;97;97;97;14	ENSP00000437959:P97H;ENSP00000369073:P97H;ENSP00000369071:P97H;ENSP00000369067:P97H;ENSP00000369066:P97H;ENSP00000437953:P97H	ENSP00000369066:P97H	P	-	2	0	POSTN	37062660	1.000000	0.71417	0.967000	0.41034	0.828000	0.46876	9.476000	0.97823	2.515000	0.84797	0.650000	0.86243	CCC		0.428	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		8	19	1	0	3.86212e-05	1	4.20231e-05	8	19				
ALDH1A2	8854	broad.mit.edu	37	15	58254324	58254324	+	Silent	SNP	C	C	G	rs141958697		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:58254324C>G	ENST00000249750.4	-	10	1904	c.1137G>C	c.(1135-1137)gtG>gtC	p.V379V	ALDH1A2_ENST00000558231.1_Silent_p.V350V|ALDH1A2_ENST00000559517.1_Silent_p.V283V|ALDH1A2_ENST00000537372.1_Silent_p.V358V|ALDH1A2_ENST00000347587.3_Silent_p.V341V	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	379					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CGCCCTCAGCCACACCACTCT	0.458																																						ENST00000249750.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1135-1137)gtG>gtC		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	C	,,,	1,4383	2.1+/-5.4	0,1,2191	98.0	92.0	94.0		1074,1137,1023,849	3.6	1.0	15	dbSNP_134	94	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ALDH1A2	NM_001206897.1,NM_003888.3,NM_170696.2,NM_170697.2	,,,	0,1,6483	GG,GC,CC		0.0,0.0228,0.0077	,,,	358/498,379/519,341/481,283/423	58254324	1,12967	2192	4292	6484	SO:0001819	synonymous_variant	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58254324C>G	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1137G>C	15.37:g.58254324C>G						ALDH1A2_ENST00000537372.1_Silent_p.V358V|ALDH1A2_ENST00000559517.1_Silent_p.V283V|ALDH1A2_ENST00000558231.1_Silent_p.V350V|ALDH1A2_ENST00000347587.3_Silent_p.V341V	p.V379V	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	10	1904	-			379					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Silent	SNP	ENST00000249750.4	37	c.1137G>C	CCDS10163.1																																																																																				0.458	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			19	49	0	0	0	1	0	19	49				
CCDC50	152137	broad.mit.edu	37	3	191098047	191098047	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:191098047A>T	ENST00000392455.3	+	6	1146	c.548A>T	c.(547-549)cAa>cTa	p.Q183L	CCDC50_ENST00000392456.3_Missense_Mutation_p.Q359L	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	183						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGAAAACTGCAAGAAGAAGAA	0.358																																						ENST00000392455.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23						c.(547-549)cAa>cTa		coiled-coil domain containing 50							63.0	64.0	64.0					3																	191098047		2203	4299	6502	SO:0001583	missense	152137					cytoplasm	protein binding	g.chr3:191098047A>T	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.548A>T	3.37:g.191098047A>T	ENSP00000376249:p.Gln183Leu					CCDC50_ENST00000392456.3_Missense_Mutation_p.Q359L	p.Q183L	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	6	1146	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		183					Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	c.548A>T	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239479	0.58995	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.78126	1.08;-1.15	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.87720	0.6248	M	0.81802	2.56	0.37817	D	0.928263	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.90575	0.4525	10	0.87932	D	0	.	12.3814	0.55309	1.0:0.0:0.0:0.0	.	183;359	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	L	183;359	ENSP00000376249:Q183L;ENSP00000376250:Q359L	ENSP00000376249:Q183L	Q	+	2	0	CCDC50	192580741	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	4.986000	0.63851	2.184000	0.69523	0.459000	0.35465	CAA		0.358	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		8	27	0	0	0	1	0	8	27				
EPB41L2	2037	broad.mit.edu	37	6	131190864	131190864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:131190864C>A	ENST00000337057.3	-	15	2627	c.2446G>T	c.(2446-2448)Gaa>Taa	p.E816*	EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000524581.1_Nonsense_Mutation_p.E194*|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.E816*|EPB41L2_ENST00000527411.1_Nonsense_Mutation_p.E746*|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Nonsense_Mutation_p.E746*	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	816					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCTACATTTTCCTGGATCACT	0.527																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2446-2448)Gaa>Taa		erythrocyte membrane protein band 4.1-like 2							276.0	264.0	268.0					6																	131190864		2203	4300	6503	SO:0001587	stop_gained	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131190864C>A	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2446G>T	6.37:g.131190864C>A	ENSP00000338481:p.Glu816*					EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000524581.1_Nonsense_Mutation_p.E194*|EPB41L2_ENST00000529208.1_Nonsense_Mutation_p.E746*|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000527411.1_Nonsense_Mutation_p.E746*|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.E816*|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525193.1_Intron	p.E816*	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2627	-	Breast(56;0.0639)		816					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Nonsense_Mutation	SNP	ENST00000337057.3	37	c.2446G>T	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.022904|15.022904	0.99819|0.99819	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000337057;ENST00000257986;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000529208;ENST00000527423|ENST00000456097	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.906320|.	0.09551|.	N|.	0.786976|.	.|T	.|0.75406	.|0.3845	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73040	.|-0.4108	.|3	0.48119|.	T|.	0.1|.	.|.	19.854|19.854	0.96750|0.96750	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	816;213;816;746;194;746;215|358	.|.	ENSP00000257986:E213X|.	E|G	-|-	1|2	0|0	EPB41L2|EPB41L2	131232557|131232557	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.894000|0.894000	0.52154|0.52154	2.914000|2.914000	0.48797|0.48797	2.699000|2.699000	0.92147|0.92147	0.462000|0.462000	0.41574|0.41574	GAA|GGA		0.527	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			55	242	1	0	2.12129e-23	1	2.66748e-23	55	242				
HNF4G	3174	broad.mit.edu	37	8	76472624	76472624	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:76472624A>G	ENST00000354370.1	+	10	1298	c.1028A>G	c.(1027-1029)cAt>cGt	p.H343R	HNF4G_ENST00000396423.2_Missense_Mutation_p.H380R			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	343					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ATGCATCCACATTTGTCTCAA	0.388																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1138-1140)cAt>cGt		hepatocyte nuclear factor 4, gamma							126.0	114.0	118.0					8																	76472624		2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76472624A>G		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.1028A>G	8.37:g.76472624A>G	ENSP00000346339:p.His343Arg					HNF4G_ENST00000354370.1_Missense_Mutation_p.H343R	p.H380R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		9	1263	+	Breast(64;0.0448)		343					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.1139A>G		.	.	.	.	.	.	.	.	.	.	A	15.79	2.938059	0.52972	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	T;T	0.70749	-0.51;-0.51	4.86	4.86	0.63082	.	0.148229	0.64402	D	0.000008	T	0.68091	0.2963	M	0.66939	2.045	0.49213	D	0.999765	B;B	0.33135	0.399;0.399	B;B	0.29353	0.065;0.101	T	0.72047	-0.4408	10	0.59425	D	0.04	.	14.9204	0.70832	1.0:0.0:0.0:0.0	.	380;343	F1D8Q4;Q14541	.;HNF4G_HUMAN	R	343;380	ENSP00000346339:H343R;ENSP00000379701:H380R	ENSP00000346339:H343R	H	+	2	0	HNF4G	76635179	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.038000	0.88943	2.168000	0.68352	0.533000	0.62120	CAT		0.388	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		5	39	0	0	0	1	0	5	39				
ARPP21	10777	broad.mit.edu	37	3	35835331	35835331	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:35835331C>G	ENST00000187397.4	+	20	2776	c.2320C>G	c.(2320-2322)Cag>Gag	p.Q774E	ARPP21_ENST00000337271.5_Missense_Mutation_p.Q755E|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q775E|ARPP21_ENST00000444190.1_Missense_Mutation_p.Q755E|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000417925.1_Missense_Mutation_p.Q775E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	774					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCCCACCCCTCAGAACAACCT	0.537																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(2320-2322)Cag>Gag		cAMP-regulated phosphoprotein, 21kDa							155.0	136.0	142.0					3																	35835331		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35835331C>G	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2320C>G	3.37:g.35835331C>G	ENSP00000187397:p.Gln774Glu					ARPP21_ENST00000444190.1_Missense_Mutation_p.Q755E|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000337271.5_Missense_Mutation_p.Q755E|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q775E|ARPP21_ENST00000417925.1_Missense_Mutation_p.Q775E	p.Q774E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			20	2776	+			774					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.2320C>G	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094041	0.76870	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000003	T	0.74673	0.3747	M	0.73962	2.25	0.43598	D	0.995958	D;D;D;D	0.59767	0.986;0.986;0.975;0.986	D;D;D;D	0.72982	0.979;0.979;0.949;0.979	T	0.74965	-0.3484	10	0.72032	D	0.01	-12.1853	20.5666	0.99351	0.0:1.0:0.0:0.0	.	775;297;774;755	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	E	775;755;755;774;775	ENSP00000414351:Q775E;ENSP00000337792:Q755E;ENSP00000405276:Q755E;ENSP00000187397:Q774E;ENSP00000412326:Q775E	ENSP00000187397:Q774E	Q	+	1	0	ARPP21	35810335	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.557000	0.60782	2.854000	0.98071	0.655000	0.94253	CAG		0.537	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		16	67	0	0	0	1	0	16	67				
TJP2	9414	broad.mit.edu	37	9	71835869	71835869	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:71835869G>T	ENST00000377245.4	+	5	617	c.409G>T	c.(409-411)Gac>Tac	p.D137Y	TJP2_ENST00000539225.1_Missense_Mutation_p.D168Y|TJP2_ENST00000453658.2_Missense_Mutation_p.D114Y|TJP2_ENST00000348208.4_Missense_Mutation_p.D137Y|TJP2_ENST00000535702.1_Missense_Mutation_p.D141Y|TJP2_ENST00000265384.7_Missense_Mutation_p.D137Y	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	137					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGATCAGGATGACCGGGCTTT	0.612																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(409-411)Gac>Tac		tight junction protein 2							34.0	33.0	33.0					9																	71835869		2203	4298	6501	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71835869G>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.409G>T	9.37:g.71835869G>T	ENSP00000366453:p.Asp137Tyr					TJP2_ENST00000539225.1_Missense_Mutation_p.D168Y|TJP2_ENST00000453658.2_Missense_Mutation_p.D114Y|TJP2_ENST00000348208.4_Missense_Mutation_p.D137Y|TJP2_ENST00000535702.1_Missense_Mutation_p.D141Y|TJP2_ENST00000265384.7_Missense_Mutation_p.D137Y	p.D137Y	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			5	617	+			137					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.409G>T	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458574	0.26248	.	.	ENSG00000119139	ENST00000453658;ENST00000423935;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T;T	0.36520	2.91;1.25;2.89;2.91;2.91;2.9;2.93	6.03	6.03	0.97812	.	0.426630	0.27577	N	0.018756	T	0.34250	0.0891	L	0.51422	1.61	0.40070	D	0.976003	B;B;B;B;B	0.11235	0.003;0.004;0.003;0.002;0.002	B;B;B;B;B	0.15870	0.005;0.014;0.007;0.004;0.008	T	0.11665	-1.0578	10	0.59425	D	0.04	.	11.7353	0.51761	0.0:0.1326:0.7298:0.1376	.	168;141;137;137;137	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	Y	114;114;137;137;137;141;168	ENSP00000392178:D114Y;ENSP00000402941:D114Y;ENSP00000366453:D137Y;ENSP00000345893:D137Y;ENSP00000265384:D137Y;ENSP00000442090:D141Y;ENSP00000438262:D168Y	ENSP00000265384:D137Y	D	+	1	0	TJP2	71025689	1.000000	0.71417	0.969000	0.41365	0.160000	0.22226	3.327000	0.52045	2.861000	0.98227	0.655000	0.94253	GAC		0.612	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		4	18	1	0	0.00024832	1	0.000264707	4	18				
ICOSLG	23308	broad.mit.edu	37	21	45656849	45656849	+	Missense_Mutation	SNP	C	C	T	rs199766847		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr21:45656849C>T	ENST00000407780.3	-	3	434	c.307G>A	c.(307-309)Gtc>Atc	p.V103I	ICOSLG_ENST00000344330.4_Missense_Mutation_p.V103I|ICOSLG_ENST00000400379.3_Missense_Mutation_p.V103I|ICOSLG_ENST00000400377.3_Intron	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	103	Ig-like V-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGGGGGGTGACGTTGAACAAG	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18423	0.0		0.0	False		,,,				2504	0.0					ENST00000407780.3																			0				endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(307-309)Gtc>Atc		inducible T-cell co-stimulator ligand		C	ILE/VAL	1,4291		0,1,2145	85.0	100.0	95.0		307	-3.1	0.0	21		95	2,8516		0,2,4257	yes	missense	ICOSLG	NM_015259.4	29	0,3,6402	TT,TC,CC		0.0235,0.0233,0.0234	benign	103/303	45656849	3,12807	2146	4259	6405	SO:0001583	missense	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45656849C>T	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.307G>A	21.37:g.45656849C>T	ENSP00000384432:p.Val103Ile					ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.V103I|ICOSLG_ENST00000344330.4_Missense_Mutation_p.V103I	p.V103I			O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	3	434	-			103			Ig-like V-type.		A8MUZ1|Q9HD18|Q9NRQ1	Missense_Mutation	SNP	ENST00000407780.3	37	c.307G>A	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	C	4.520	0.096451	0.08681	2.33E-4	2.35E-4	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379	T;T;T	0.66815	-0.23;-0.23;-0.23	5.01	-3.09	0.05331	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.721038	0.12227	N	0.487821	T	0.40546	0.1121	N	0.17474	0.49	0.27118	N	0.962219	P;P	0.46912	0.886;0.886	B;B	0.34385	0.181;0.181	T	0.38286	-0.9668	10	0.34782	T	0.22	.	10.9892	0.47539	0.0:0.2728:0.0:0.7272	.	103;103	A0N0L8;O75144	.;ICOSL_HUMAN	I	103	ENSP00000339477:V103I;ENSP00000384432:V103I;ENSP00000383230:V103I	ENSP00000339477:V103I	V	-	1	0	ICOSLG	44481277	0.009000	0.17119	0.006000	0.13384	0.029000	0.11900	-0.684000	0.05173	-0.478000	0.06823	-0.768000	0.03414	GTC		0.597	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		43	92	0	0	0	1	0	43	92				
DNAH5	1767	broad.mit.edu	37	5	13814732	13814732	+	Silent	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:13814732A>G	ENST00000265104.4	-	43	7316	c.7212T>C	c.(7210-7212)gaT>gaC	p.D2404D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2404	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAGGACTCCAATCAAGGATAG	0.363									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(7210-7212)gaT>gaC		dynein, axonemal, heavy chain 5							56.0	55.0	55.0					5																	13814732		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13814732A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7212T>C	5.37:g.13814732A>G							p.D2404D	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			43	7316	-	Lung NSC(4;0.00476)		2404			AAA 2 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.7212T>C	CCDS3882.1																																																																																				0.363	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		5	32	0	0	0	1	0	5	32				
CDKN2A	1029	broad.mit.edu	37	9	21971208	21971208	+	Splice_Site	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:21971208C>T	ENST00000304494.5	-	2	421		c.e2-1		CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						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.?(38)|p.0(1)|p.V28_V51del(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)		TCATCATGACCTGCCAGAGAG	0.667		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1355	Whole gene deletion(1316)|Unknown(38)|Deletion - In frame(1)	p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(277)|skin(175)|central_nervous_system(162)|lung(146)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(60)|soft_tissue(57)|pleura(51)|oesophagus(49)|ovary(34)|kidney(30)|pancreas(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|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	CS014428|CS067079	CDKN2A	S		c.e2-1		cyclin-dependent kinase inhibitor 2A							8.0	9.0	8.0					9																	21971208		2072	4134	6206	SO:0001630	splice_region_variant	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.chr9:21971208C>T	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.151-1G>A	9.37:g.21971208C>T		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000446177.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site				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	486	-		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)						A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	ENST00000304494.5	37		CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392055	0.62066	.	.	ENSG00000147889	ENST00000361570;ENST00000304494;ENST00000530628;ENST00000446177	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0183	0.92902	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21961208	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	6.822000	0.75277	2.781000	0.95711	0.555000	0.69702	.		0.667	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Intron	4	13	0	0	0	1	0	4	13				
AKR1B10	57016	broad.mit.edu	37	7	134221420	134221420	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:134221420G>C	ENST00000359579.4	+	5	768	c.448G>C	c.(448-450)Gat>Cat	p.D150H	AKR1B10_ENST00000475559.1_Intron	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	150					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GGAGCTGGTGGATGAGGGGCT	0.517																																						ENST00000359579.4																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						c.(448-450)Gat>Cat		aldo-keto reductase family 1, member B10 (aldose reductase)							69.0	71.0	70.0					7																	134221420		2203	4300	6503	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134221420G>C	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.448G>C	7.37:g.134221420G>C	ENSP00000352584:p.Asp150His					AKR1B10_ENST00000475559.1_Intron	p.D150H	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN			5	768	+			150					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.448G>C	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027895	0.75390	.	.	ENSG00000198074	ENST00000359579	T	0.19250	2.16	4.75	4.75	0.60458	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.047985	0.85682	D	0.000000	T	0.44095	0.1277	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	T	0.41998	-0.9477	10	0.72032	D	0.01	.	17.138	0.86745	0.0:0.0:1.0:0.0	.	150	O60218	AK1BA_HUMAN	H	150	ENSP00000352584:D150H	ENSP00000352584:D150H	D	+	1	0	AKR1B10	133871960	1.000000	0.71417	0.987000	0.45799	0.776000	0.43924	9.070000	0.93974	2.349000	0.79799	0.556000	0.70494	GAT		0.517	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		7	79	0	0	0	1	0	7	79				
CNNM2	54805	broad.mit.edu	37	10	104679569	104679569	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:104679569G>T	ENST00000369878.4	+	1	1520	c.1332G>T	c.(1330-1332)aaG>aaT	p.K444N	CNNM2_ENST00000433628.2_Missense_Mutation_p.K444N|CNNM2_ENST00000369875.3_Missense_Mutation_p.K444N	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	444					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCCGCACCAAGACGGTGGAGG	0.582																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1330-1332)aaG>aaT		cyclin M2							70.0	65.0	67.0					10																	104679569		2203	4300	6503	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104679569G>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1332G>T	10.37:g.104679569G>T	ENSP00000358894:p.Lys444Asn					CNNM2_ENST00000457502.2_Missense_Mutation_p.K202N|CNNM2_ENST00000369875.3_Missense_Mutation_p.K444N|CNNM2_ENST00000433628.2_Missense_Mutation_p.K444N	p.K444N	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	1456	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	444					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.1332G>T	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183065	0.57800	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.77358	-1.09;-1.09;-1.09	4.81	4.81	0.61882	.	0.095044	0.64402	D	0.000001	D	0.90324	0.6973	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	0.993;0.988;1.0	D;D;D	0.97110	0.972;0.938;1.0	D	0.92216	0.5780	10	0.87932	D	0	.	11.3967	0.49847	0.0835:0.0:0.9165:0.0	.	444;444;444	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	N	444	ENSP00000392875:K444N;ENSP00000358891:K444N;ENSP00000358894:K444N	ENSP00000286899:K444N	K	+	3	2	CNNM2	104669559	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.200000	0.58433	2.187000	0.69744	0.555000	0.69702	AAG		0.582	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		6	63	1	0	0.0215528	1	0.0220784	6	63				
OLFML2B	25903	broad.mit.edu	37	1	161954032	161954032	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:161954032G>A	ENST00000294794.3	-	8	2109	c.1686C>T	c.(1684-1686)agC>agT	p.S562S	OLFML2B_ENST00000367938.1_Silent_p.S45S|OLFML2B_ENST00000367940.2_Silent_p.S563S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	562	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCCGATCCAGCTGTACGGGA	0.577																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1684-1686)agC>agT		olfactomedin-like 2B							88.0	80.0	83.0					1																	161954032		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161954032G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1686C>T	1.37:g.161954032G>A						OLFML2B_ENST00000367940.2_Silent_p.S563S|OLFML2B_ENST00000367938.1_Silent_p.S45S	p.S562S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2109	-	all_hematologic(112;0.156)		562			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1686C>T	CCDS1236.1																																																																																				0.577	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		11	111	0	0	0	1	0	11	111				
LMTK2	22853	broad.mit.edu	37	7	97833482	97833482	+	Silent	SNP	G	G	T	rs529867832		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:97833482G>T	ENST00000297293.5	+	13	4760	c.4467G>T	c.(4465-4467)tcG>tcT	p.S1489S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1489				Missing (in Ref. 2; BAA83031). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGACCGACTCGGACATCGAGC	0.657																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(4465-4467)tcG>tcT		lemur tyrosine kinase 2							53.0	57.0	56.0					7																	97833482		2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97833482G>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4467G>T	7.37:g.97833482G>T							p.S1489S	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			13	4760	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1489	Missing (in Ref. 2; BAA83031).				A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.4467G>T	CCDS5654.1																																																																																				0.657	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		10	79	1	0	0.00010058	1	0.000108317	10	79				
ACTL6A	86	broad.mit.edu	37	3	179294649	179294649	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:179294649G>T	ENST00000429709.2	+	8	929	c.716G>T	c.(715-717)aGa>aTa	p.R239I	ACTL6A_ENST00000392662.1_Missense_Mutation_p.R197I|ACTL6A_ENST00000450518.2_Missense_Mutation_p.R197I|ACTL6A_ENST00000467615.1_3'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	239					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AACTGGAAAAGAAAAGAGAAG	0.423																																						ENST00000429709.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(715-717)aGa>aTa		actin-like 6A							128.0	128.0	128.0					3																	179294649		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179294649G>T	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.716G>T	3.37:g.179294649G>T	ENSP00000397552:p.Arg239Ile					ACTL6A_ENST00000392662.1_Missense_Mutation_p.R197I|ACTL6A_ENST00000450518.2_Missense_Mutation_p.R197I|ACTL6A_ENST00000467615.1_3'UTR	p.R239I	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		8	929	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		239					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.716G>T	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368369	0.82463	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.94793	-3.52;-3.4;-3.4	5.24	5.24	0.73138	.	0.042860	0.85682	D	0.000000	D	0.89051	0.6605	N	0.04090	-0.28	0.80722	D	1	P	0.43633	0.813	P	0.46076	0.503	D	0.88049	0.2786	10	0.16896	T	0.51	.	18.8163	0.92077	0.0:0.0:1.0:0.0	.	239	O96019	ACL6A_HUMAN	I	239;197;197	ENSP00000397552:R239I;ENSP00000394014:R197I;ENSP00000376430:R197I	ENSP00000376430:R197I	R	+	2	0	ACTL6A	180777343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.943000	0.75934	2.440000	0.82611	0.650000	0.86243	AGA		0.423	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		13	87	1	0	1.05317e-09	1	1.22191e-09	13	87				
CYP17A1	1586	broad.mit.edu	37	10	104591347	104591347	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:104591347G>A	ENST00000369887.3	-	7	1332	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'Flank	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	387					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	CTGTGCCCTTGTCCACAGCAA	0.542																																						ENST00000369887.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(1159-1161)gaC>gaT		cytochrome P450, family 17, subfamily A, polypeptide 1	NADH(DB00157)|Progesterone(DB00396)						150.0	105.0	120.0					10																	104591347		2203	4300	6503	SO:0001819	synonymous_variant	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104591347G>A	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.1161C>T	10.37:g.104591347G>A							p.D387D	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	7	1332	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	387					Q5TZV7	Silent	SNP	ENST00000369887.3	37	c.1161C>T	CCDS7541.1																																																																																				0.542	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		14	35	0	0	0	1	0	14	35				
LINS	55180	broad.mit.edu	37	15	101114293	101114293	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:101114293G>A	ENST00000314742.8	-	5	1007	c.785C>T	c.(784-786)tCc>tTc	p.S262F	LINS_ENST00000560133.1_Missense_Mutation_p.S143F|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.S262F	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	262										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GTGGATTCTGGAGGCGATGAG	0.388																																						ENST00000314742.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						c.(784-786)tCc>tTc		lines homolog (Drosophila)							57.0	58.0	57.0					15																	101114293		2203	4299	6502	SO:0001583	missense	55180							g.chr15:101114293G>A	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.785C>T	15.37:g.101114293G>A	ENSP00000318423:p.Ser262Phe					LINS_ENST00000560133.1_Missense_Mutation_p.S143F|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.S262F	p.S262F	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN			5	1007	-			262					Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.785C>T	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973405	0.74246	.	.	ENSG00000140471	ENST00000314742	T	0.20463	2.07	6.17	6.17	0.99709	.	0.125415	0.64402	D	0.000013	T	0.46249	0.1383	M	0.71581	2.175	0.41373	D	0.9875	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.958;0.996	T	0.36866	-0.9730	10	0.87932	D	0	-15.3681	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	143;262;262	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	F	262	ENSP00000318423:S262F	ENSP00000318423:S262F	S	-	2	0	LINS	98931816	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.272000	0.51616	2.941000	0.99782	0.655000	0.94253	TCC		0.388	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		5	54	0	0	0	1	0	5	54				
NPW	283869	broad.mit.edu	37	16	2070260	2070260	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:2070260G>T	ENST00000566435.1	+	1	715	c.202G>T	c.(202-204)Gcc>Tcc	p.A68S	NPW_ENST00000329610.4_Missense_Mutation_p.A120S			Q8N729	NPW_HUMAN	neuropeptide W	120					feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				kidney(1)	1						GAGCCCGCGCGCCCCAGAGCC	0.726																																						ENST00000329610.4																			0				kidney(1)	1						c.(358-360)Gcc>Tcc		neuropeptide W							3.0	3.0	3.0					16																	2070260		1595	3589	5184	SO:0001583	missense	283869				feeding behavior|neuropeptide signaling pathway	extracellular region		g.chr16:2070260G>T	AB084276	CCDS42102.1	16p13.3	2013-02-26			ENSG00000183971	ENSG00000183971		"""Endogenous ligands"""	30509	protein-coding gene	gene with protein product	"""prepro-neuropeptide W"""	607997				12118011, 12401809	Standard	NM_001099456		Approved	PPL8	uc002coh.4	Q8N729	OTTHUMG00000176914	ENST00000566435.1:c.202G>T	16.37:g.2070260G>T	ENSP00000456974:p.Ala68Ser					NPW_ENST00000566435.1_Missense_Mutation_p.A68S	p.A120S	NM_001099456.2	NP_001092926.2	Q8N729	NPW_HUMAN			1	740	+			120						Missense_Mutation	SNP	ENST00000566435.1	37	c.358G>T		.	.	.	.	.	.	.	.	.	.	g	14.07	2.424475	0.43020	.	.	ENSG00000183971	ENST00000329610	T	0.47869	0.83	2.98	0.903	0.19296	.	.	.	.	.	T	0.32010	0.0815	N	0.24115	0.695	0.09310	N	1	P	0.52170	0.951	P	0.45377	0.478	T	0.11690	-1.0577	9	0.38643	T	0.18	.	4.3222	0.11022	0.1385:0.2354:0.6261:0.0	.	120	Q8N729	NPW_HUMAN	S	120	ENSP00000330070:A120S	ENSP00000330070:A120S	A	+	1	0	NPW	2010261	0.000000	0.05858	0.002000	0.10522	0.165000	0.22458	-0.017000	0.12590	0.134000	0.18681	0.400000	0.26472	GCC		0.726	NPW-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000434312.1	NM_001099456		3	3	1	0	0.115264	1	0.116372	3	3				
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:7577114C>T	ENST00000269305.4	-	8	1013	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000420246.2_Missense_Mutation_p.C275Y|TP53_ENST00000574684.1_5'Flank	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(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)	AGGACAGGCACAAACACGCAC	0.552		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"""		115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(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	CM076568|CM951234	TP53	M		c.(823-825)tGt>tAt	Other conserved DNA damage response genes	tumor protein p53							71.0	61.0	64.0					17																	7577114		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.chr17:7577114C>T	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.824G>A	17.37:g.7577114C>T	ENSP00000269305:p.Cys275Tyr	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_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000269305.4_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y	p.C275Y	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	956	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	275		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|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.824G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605675	0.87157	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	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	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	275;275;275;275;275;264;143	ENSP00000352610:C275Y;ENSP00000269305:C275Y;ENSP00000398846:C275Y;ENSP00000391127:C275Y;ENSP00000391478:C275Y;ENSP00000425104:C143Y	ENSP00000269305:C275Y	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	20	0	0	0	1	0	15	20				
TRAV8-2	28684	broad.mit.edu	37	14	22314901	22314901	+	RNA	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:22314901G>C	ENST00000390434.3	+	0	183									T cell receptor alpha variable 8-2																		CCTGGCTTCTGTCCTCCCTGC	0.552											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000390434.3																			0																				67.0	65.0	66.0					14																	22314901		2006	4188	6194			28684							g.chr14:22314901G>C	AE000659		14q11.2	2012-02-07			ENSG00000211786	ENSG00000211786		"""T cell receptors / TRA locus"""	12147	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168991		14.37:g.22314901G>C			OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	755									0	183	+									RNA	SNP	ENST00000390434.3	37																																																																																						0.552	TRAV8-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401889.1	NG_001332		5	53	0	0	0	1	0	5	53				
EXOC5	10640	broad.mit.edu	37	14	57675357	57675357	+	Silent	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:57675357T>C	ENST00000413566.2	-	18	2456	c.2097A>G	c.(2095-2097)agA>agG	p.R699R	EXOC5_ENST00000340918.7_Silent_p.R634R	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	699					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GGCGGGCAGATCTATAATCAG	0.428																																						ENST00000413566.2																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2095-2097)agA>agG		exocyst complex component 5							153.0	152.0	152.0					14																	57675357		1875	4097	5972	SO:0001819	synonymous_variant	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57675357T>C	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.2097A>G	14.37:g.57675357T>C						EXOC5_ENST00000340918.7_Silent_p.R634R	p.R699R	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN			18	2456	-			699					B2R6C5	Silent	SNP	ENST00000413566.2	37	c.2097A>G	CCDS45111.1																																																																																				0.428	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		42	169	0	0	0	1	0	42	169				
TAF1B	9014	broad.mit.edu	37	2	9991714	9991714	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:9991714C>T	ENST00000263663.5	+	4	438	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F	TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	84	N-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|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)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCAGTATATTCTTTATCAACA	0.328																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(250-252)Ctt>Ttt		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							188.0	195.0	192.0					2																	9991714		2203	4298	6501	SO:0001583	missense	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:9991714C>T	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.250C>T	2.37:g.9991714C>T	ENSP00000263663:p.Leu84Phe					TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	p.L84F	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			4	438	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		84					B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	c.250C>T	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614069	0.66672	.	.	ENSG00000115750	ENST00000263663;ENST00000402170;ENST00000404869	T	0.28895	1.59	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.997;0.999	T	0.51857	-0.8652	9	.	.	.	-19.5667	16.8356	0.85956	0.0:1.0:0.0:0.0	.	84;84;84	B5MD29;Q53T94;Q53T94-2	.;TAF1B_HUMAN;.	F	84	ENSP00000263663:L84F	.	L	+	1	0	TAF1B	9909165	1.000000	0.71417	0.637000	0.29366	0.461000	0.32589	5.277000	0.65586	2.785000	0.95823	0.655000	0.94253	CTT		0.328	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		11	70	0	0	0	1	0	11	70				
ZDHHC12	84885	broad.mit.edu	37	9	131484290	131484290	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:131484290G>T	ENST00000372663.4	-	3	325	c.313C>A	c.(313-315)Ctg>Atg	p.L105M	ZDHHC12_ENST00000372667.5_Missense_Mutation_p.L119M|ZDHHC12_ENST00000372672.2_Missense_Mutation_p.L105M|ZDHHC12_ENST00000467312.1_5'UTR|RP11-545E17.3_ENST00000443631.1_RNA	NM_032799.4	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	105					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						TCACTCACCAGCACCAGGCAG	0.627																																						ENST00000372667.5																			0				central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						c.(355-357)Ctg>Atg		zinc finger, DHHC-type containing 12							117.0	101.0	106.0					9																	131484290		2203	4300	6503	SO:0001583	missense	84885					integral to membrane	acyltransferase activity|zinc ion binding	g.chr9:131484290G>T	AK027430	CCDS6909.1	9q34.11	2008-02-05			ENSG00000160446	ENSG00000160446		"""Zinc fingers, DHHC-type"""	19159	protein-coding gene	gene with protein product							Standard	NM_032799		Approved	ZNF400, FLJ14524	uc004bvy.3	Q96GR4	OTTHUMG00000020756	ENST00000372663.4:c.313C>A	9.37:g.131484290G>T	ENSP00000361748:p.Leu105Met					ZDHHC12_ENST00000372672.2_Missense_Mutation_p.L105M|ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372663.4_Missense_Mutation_p.L105M	p.L119M			Q96GR4	ZDH12_HUMAN			3	384	-			105					A6NH95|B2RE03|Q5T265|Q5T267|Q5T268|Q86VT5|Q96T09	Missense_Mutation	SNP	ENST00000372663.4	37	c.355C>A	CCDS6909.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355236	0.61293	.	.	ENSG00000160446	ENST00000372663;ENST00000372672;ENST00000372667;ENST00000372664;ENST00000452105;ENST00000406904	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	4.27	3.29	0.37713	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.457659	0.22959	N	0.053563	T	0.24851	0.0603	N	0.20845	0.615	0.25165	N	0.990324	D;P	0.60160	0.987;0.918	P;P	0.55303	0.773;0.606	T	0.02821	-1.1106	10	0.54805	T	0.06	.	8.8581	0.35240	0.0:0.0:0.7765:0.2235	.	160;105	Q96GR4-3;Q96GR4	.;ZDH12_HUMAN	M	105;105;119;105;105;160	ENSP00000361748:L105M;ENSP00000361752:L119M;ENSP00000387587:L105M;ENSP00000384205:L160M	ENSP00000361748:L105M	L	-	1	2	ZDHHC12	130524111	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.599000	0.54045	2.111000	0.64477	0.456000	0.33151	CTG		0.627	ZDHHC12-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054484.1	NM_032799		9	66	1	0	9.70103e-10	1	1.13179e-09	9	66				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000433992.1																			0				endometrium(1)	1																																														1564							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA								0	475	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			3	38	0	0	0	1	0	3	38				
BAI1	575	broad.mit.edu	37	8	143558824	143558824	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:143558824G>A	ENST00000517894.1	+	6	2195	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	BAI1_ENST00000323289.5_Missense_Mutation_p.R434H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	434	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GATCGCACGCGCACCTGCAGG	0.642																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(1300-1302)cGc>cAc		brain-specific angiogenesis inhibitor 1							48.0	57.0	54.0					8																	143558824		2070	4189	6259	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558824G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1301G>A	8.37:g.143558824G>A	ENSP00000430945:p.Arg434His					BAI1_ENST00000323289.5_Missense_Mutation_p.R434H	p.R434H			O14514	BAI1_HUMAN			6	2195	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		434			TSP type-1 3.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1301G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.062236	0.93846	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.65364	-0.15;-0.15	4.18	4.18	0.49190	.	0.000000	0.64402	U	0.000001	D	0.84334	0.5449	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89527	0.3782	10	0.87932	D	0	.	15.816	0.78599	0.0:0.0:1.0:0.0	.	434	E9PBK0	.	H	434	ENSP00000430945:R434H;ENSP00000313046:R434H	ENSP00000313046:R434H	R	+	2	0	BAI1	143555826	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.592000	0.98245	2.000000	0.58554	0.491000	0.48974	CGC		0.642	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		16	129	0	0	0	1	0	16	129				
PON3	5446	broad.mit.edu	37	7	95025660	95025660	+	Start_Codon_SNP	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:95025660C>T	ENST00000265627.5	-	1	13	c.3G>A	c.(1-3)atG>atA	p.M1I	PON3_ENST00000427422.1_Start_Codon_SNP_p.M1I|PON1_ENST00000542556.1_Start_Codon_SNP_p.M1I|PON3_ENST00000475439.1_5'Flank|PON3_ENST00000451904.1_Start_Codon_SNP_p.M1I	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	1					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CGAGCTTCCCCATGGTCTCGG	0.706																																						ENST00000542556.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(1-3)atG>atA		paraoxonase 1	Atorvastatin(DB01076)|Cefazolin(DB01327)						77.0	70.0	73.0					7																	95025660		2203	4300	6503	SO:0001582	initiator_codon_variant	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:95025660C>T	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.3G>A	7.37:g.95025660C>T	ENSP00000265627:p.Met1Ile					PON3_ENST00000265627.5_Start_Codon_SNP_p.M1I|PON3_ENST00000427422.1_Start_Codon_SNP_p.M1I	p.M1I			P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	13	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		1					A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Translation_Start_Site	SNP	ENST00000265627.5	37	c.3G>A	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173967	0.57692	.	.	ENSG00000005421;ENSG00000105852;ENSG00000105852	ENST00000542556;ENST00000265627;ENST00000427422	T;T;T	0.38240	1.15;1.17;1.32	4.45	4.45	0.53987	Six-bladed beta-propeller, TolB-like (1);	0.094025	0.85682	D	0.000000	T	0.57344	0.2047	.	.	.	0.52099	D	0.99994	P;P;P	0.52577	0.924;0.954;0.924	P;D;P	0.66351	0.878;0.943;0.878	T	0.60151	-0.7319	9	0.87932	D	0	-26.9108	12.8966	0.58104	0.0:1.0:0.0:0.0	.	1;1;1	B4E2I0;F5H4W9;Q15166	.;.;PON3_HUMAN	I	1	ENSP00000444854:M1I;ENSP00000265627:M1I;ENSP00000413276:M1I	ENSP00000444854:M1I	M	-	3	0	PON1;PON3	94863596	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	3.514000	0.53422	2.768000	0.95171	0.561000	0.74099	ATG		0.706	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940	Missense_Mutation	30	93	0	0	0	1	0	30	93				
TAF1L	138474	broad.mit.edu	37	9	32631588	32631588	+	Silent	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:32631588A>G	ENST00000242310.4	-	1	4079	c.3990T>C	c.(3988-3990)gaT>gaC	p.D1330D	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1330					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTTCTTCATTATCATTATGAA	0.423																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3988-3990)gaT>gaC		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							224.0	228.0	226.0					9																	32631588		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631588A>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3990T>C	9.37:g.32631588A>G							p.D1330D	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4079	-			1330					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.3990T>C	CCDS35003.1																																																																																				0.423	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			19	260	0	0	0	1	0	19	260				
NOTCH1	4851	broad.mit.edu	37	9	139393392	139393392	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:139393392G>A	ENST00000277541.6	-	33	6214	c.6139C>T	c.(6139-6141)Ctc>Ttc	p.L2047F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2047					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTCTTCAGGAGCACAACTGCG	0.592			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(6139-6141)Ctc>Ttc		notch 1							139.0	149.0	145.0					9																	139393392		2094	4229	6323	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139393392G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6139C>T	9.37:g.139393392G>A	ENSP00000277541:p.Leu2047Phe	HNSCC(8;0.001)					p.L2047F	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	33	6214	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2047					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.6139C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933230	0.73442	.	.	ENSG00000148400	ENST00000277541	T	0.78126	-1.15	4.9	4.9	0.64082	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	D	0.89931	0.6858	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91947	0.5568	10	0.87932	D	0	.	17.4199	0.87512	0.0:0.0:1.0:0.0	.	2047	P46531	NOTC1_HUMAN	F	2047	ENSP00000277541:L2047F	ENSP00000277541:L2047F	L	-	1	0	NOTCH1	138513213	1.000000	0.71417	0.339000	0.25562	0.588000	0.36517	6.127000	0.71642	2.429000	0.82318	0.561000	0.74099	CTC		0.592	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		20	175	0	0	0	1	0	20	175				
OMP	4975	broad.mit.edu	37	11	76814046	76814046	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:76814046G>A	ENST00000529803.1	+	1	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H	CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	54					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCTGTGTACCGCCTCAACTTC	0.637																																						ENST00000529803.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(160-162)cGc>cAc		olfactory marker protein							39.0	51.0	47.0					11																	76814046		2156	4257	6413	SO:0001583	missense	4975				sensory perception of smell|synaptic transmission			g.chr11:76814046G>A	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.161G>A	11.37:g.76814046G>A	ENSP00000436376:p.Arg54His					CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron	p.R54H	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN			1	161	+			54					Q562G2	Missense_Mutation	SNP	ENST00000529803.1	37	c.161G>A	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437302	0.43224	.	.	ENSG00000254550	ENST00000529803	T	0.36157	1.27	5.12	5.12	0.69794	.	.	.	.	.	T	0.50429	0.1615	L	0.32530	0.975	0.46376	D	0.999016	D	0.89917	1.0	D	0.73380	0.98	T	0.51803	-0.8659	9	0.72032	D	0.01	.	17.7232	0.88358	0.0:0.0:1.0:0.0	.	54	P47874	OMP_HUMAN	H	54	ENSP00000436376:R54H	ENSP00000436376:R54H	R	+	2	0	OMP	76491694	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	7.239000	0.78182	2.675000	0.91044	0.462000	0.41574	CGC		0.637	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		19	42	0	0	0	1	0	19	42				
JUP	3728	broad.mit.edu	37	17	39914005	39914005	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:39914005C>A	ENST00000393931.3	-	11	1923	c.1805G>T	c.(1804-1806)cGc>cTc	p.R602L	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.R602L|JUP_ENST00000393930.1_Missense_Mutation_p.R602L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	602	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGCAGCCACGCGCTGGATGTT	0.672																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1804-1806)cGc>cTc		junction plakoglobin							26.0	25.0	25.0					17																	39914005		2203	4298	6501	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39914005C>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1805G>T	17.37:g.39914005C>A	ENSP00000377508:p.Arg602Leu					JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.R602L|JUP_ENST00000393930.1_Missense_Mutation_p.R602L	p.R602L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	11	1923	-		Breast(137;0.000162)	602					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1805G>T	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272080	0.80469	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.71103	-0.54;-0.54;-0.54	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79505	-0.1776	10	0.41790	T	0.15	-13.1972	17.0882	0.86616	0.0:1.0:0.0:0.0	.	602	P14923	PLAK_HUMAN	L	602	ENSP00000377507:R602L;ENSP00000311113:R602L;ENSP00000377508:R602L	ENSP00000311113:R602L	R	-	2	0	JUP	37167531	1.000000	0.71417	0.939000	0.37840	0.538000	0.34931	7.528000	0.81941	2.518000	0.84900	0.561000	0.74099	CGC		0.672	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			8	24	1	0	0.000274275	1	0.000290898	8	24				
ELTD1	64123	broad.mit.edu	37	1	79383705	79383705	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:79383705G>A	ENST00000370742.3	-	11	1555	c.1492C>T	c.(1492-1494)Cac>Tac	p.H498Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	498					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAGAAGTAGTGTAGCAGTCCG	0.343																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1492-1494)Cac>Tac		EGF, latrophilin and seven transmembrane domain containing 1							116.0	107.0	110.0					1																	79383705		1876	4117	5993	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383705G>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1492C>T	1.37:g.79383705G>A	ENSP00000359778:p.His498Tyr						p.H498Y	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	11	1555	-			498					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1492C>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696249	0.68386	.	.	ENSG00000162618	ENST00000370742	T	0.50813	0.73	6.08	6.08	0.98989	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.76997	0.4066	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82047	-0.0651	9	.	.	.	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	498	Q9HBW9	ELTD1_HUMAN	Y	498	ENSP00000359778:H498Y	.	H	-	1	0	ELTD1	79156293	1.000000	0.71417	0.983000	0.44433	0.201000	0.24016	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	CAC		0.343	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		5	86	0	0	0	1	0	5	86				
DGAT2L6	347516	broad.mit.edu	37	X	69424196	69424196	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chrX:69424196T>C	ENST00000333026.3	+	6	789	c.689T>C	c.(688-690)gTt>gCt	p.V230A		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	230					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GAGAACGAAGTTTTCAATCAG	0.468																																						ENST00000333026.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(688-690)gTt>gCt		diacylglycerol O-acyltransferase 2-like 6							59.0	50.0	53.0					X																	69424196		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69424196T>C	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.689T>C	X.37:g.69424196T>C	ENSP00000328036:p.Val230Ala						p.V230A	NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN			6	789	+			230					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.689T>C	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	T	3.848	-0.032363	0.07543	.	.	ENSG00000184210	ENST00000333026	T	0.19938	2.11	4.43	1.98	0.26296	.	1.086520	0.07144	N	0.847885	T	0.16685	0.0401	L	0.31157	0.91	0.09310	N	1	B	0.12630	0.006	B	0.19666	0.026	T	0.32188	-0.9916	10	0.54805	T	0.06	-23.9254	6.5304	0.22324	0.0:0.2283:0.0:0.7717	.	230	Q6ZPD8	DG2L6_HUMAN	A	230	ENSP00000328036:V230A	ENSP00000328036:V230A	V	+	2	0	DGAT2L6	69340921	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.826000	0.27407	0.576000	0.29452	0.486000	0.48141	GTT		0.468	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		6	11	0	0	0	1	0	6	11				
PARD3	56288	broad.mit.edu	37	10	34400150	34400150	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:34400150C>T	ENST00000374789.3	-	25	4343	c.4018G>A	c.(4018-4020)Gcg>Acg	p.A1340T	PARD3_ENST00000350537.4_Missense_Mutation_p.A1294T|PARD3_ENST00000346874.4_Missense_Mutation_p.A1303T|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337T|PARD3_ENST00000545260.1_Missense_Mutation_p.A1250T|PARD3_ENST00000374790.3_Missense_Mutation_p.A1280T|PARD3_ENST00000545693.1_Missense_Mutation_p.A1324T|PARD3_ENST00000374794.3_Missense_Mutation_p.A1228T	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1340					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTCAGCCTCGCAACCTGAGAA	0.542																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(4018-4020)Gcg>Acg		par-3 family cell polarity regulator							46.0	51.0	49.0					10																	34400150		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34400150C>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.4018G>A	10.37:g.34400150C>T	ENSP00000363921:p.Ala1340Thr					PARD3_ENST00000374794.3_Missense_Mutation_p.A1228T|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337T|PARD3_ENST00000545693.1_Missense_Mutation_p.A1324T|PARD3_ENST00000346874.4_Missense_Mutation_p.A1303T|PARD3_ENST00000350537.4_Missense_Mutation_p.A1294T|PARD3_ENST00000374790.3_Missense_Mutation_p.A1280T|PARD3_ENST00000545260.1_Missense_Mutation_p.A1250T	p.A1340T	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			25	4343	-		Breast(68;0.0707)	1340					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.4018G>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303224	0.81136	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.19394	2.3;2.2;2.34;2.33;2.19;2.15;2.18;2.28	6.17	5.26	0.73747	.	0.151617	0.64402	D	0.000014	T	0.33323	0.0859	N	0.24115	0.695	0.80722	D	1	D;P;D;D;D;D;D;D	0.76494	0.999;0.767;0.999;0.999;0.999;0.999;0.999;0.998	D;B;D;D;D;D;D;D	0.87578	0.998;0.359;0.998;0.998;0.998;0.998;0.998;0.995	T	0.09487	-1.0672	10	0.36615	T	0.2	.	16.714	0.85393	0.1369:0.8631:0.0:0.0	.	1228;1250;1257;1294;1324;1303;1337;1340	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	T	1324;1250;1340;1337;1303;1228;1294;1280	ENSP00000443147:A1324T;ENSP00000440857:A1250T;ENSP00000363921:A1340T;ENSP00000363920:A1337T;ENSP00000340591:A1303T;ENSP00000363926:A1228T;ENSP00000311986:A1294T;ENSP00000363922:A1280T	ENSP00000340591:A1303T	A	-	1	0	PARD3	34440156	1.000000	0.71417	0.350000	0.25708	0.914000	0.54420	5.750000	0.68712	1.587000	0.49959	0.655000	0.94253	GCG		0.542	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		16	40	0	0	0	1	0	16	40				
TRIP6	7205	broad.mit.edu	37	7	100466242	100466242	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:100466242G>A	ENST00000200457.4	+	4	849	c.489G>A	c.(487-489)ccG>ccA	p.P163P		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	163					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCAGCACCCCGGCTGGCCCAG	0.711																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(487-489)ccG>ccA		thyroid hormone receptor interactor 6							14.0	18.0	17.0					7																	100466242		2119	4148	6267	SO:0001819	synonymous_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100466242G>A	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.489G>A	7.37:g.100466242G>A							p.P163P	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			4	849	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		163					A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	c.489G>A	CCDS5708.1																																																																																				0.711	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		14	52	0	0	0	1	0	14	52				
KCNK18	338567	broad.mit.edu	37	10	118969271	118969271	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:118969271G>C	ENST00000334549.1	+	3	616	c.616G>C	c.(616-618)Gct>Cct	p.A206P		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	206					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CATCATCAGTGCTGAAGAGCT	0.542																																						ENST00000334549.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(616-618)Gct>Cct		potassium channel, subfamily K, member 18							72.0	74.0	73.0					10																	118969271		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118969271G>C	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.616G>C	10.37:g.118969271G>C	ENSP00000334650:p.Ala206Pro						p.A206P	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	616	+		Colorectal(252;0.19)	206					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.616G>C	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684509	0.29872	.	.	ENSG00000186795	ENST00000334549	T	0.14640	2.49	4.72	1.84	0.25277	.	0.922704	0.09330	N	0.817093	T	0.10937	0.0267	L	0.29908	0.895	0.09310	N	1	P	0.49961	0.93	B	0.41571	0.36	T	0.28490	-1.0042	10	0.32370	T	0.25	.	9.9777	0.41795	0.2282:0.0:0.7718:0.0	.	206	Q7Z418	KCNKI_HUMAN	P	206	ENSP00000334650:A206P	ENSP00000334650:A206P	A	+	1	0	KCNK18	118959261	0.001000	0.12720	0.006000	0.13384	0.065000	0.16274	0.647000	0.24812	0.675000	0.31264	0.655000	0.94253	GCT		0.542	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		14	97	0	0	0	1	0	14	97				
CNOT1	23019	broad.mit.edu	37	16	58615370	58615370	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:58615370C>T	ENST00000317147.5	-	11	1426	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	CNOT1_ENST00000569240.1_Missense_Mutation_p.G365E|CNOT1_ENST00000441024.2_Missense_Mutation_p.G365E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	365					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AATTTGAAATCCAGGATGGTC	0.358																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(1093-1095)gGa>gAa		CCR4-NOT transcription complex, subunit 1							98.0	90.0	93.0					16																	58615370		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58615370C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1094G>A	16.37:g.58615370C>T	ENSP00000320949:p.Gly365Glu					CNOT1_ENST00000441024.2_Missense_Mutation_p.G365E|CNOT1_ENST00000569240.1_Missense_Mutation_p.G365E	p.G365E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	11	1426	-			365					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1094G>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701512	0.30142	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.41758	0.99;0.99	5.3	5.3	0.74995	.	0.049391	0.85682	D	0.000000	T	0.44286	0.1286	L	0.35723	1.085	0.80722	D	1	P;B;B	0.50272	0.933;0.003;0.002	P;B;B	0.48654	0.585;0.003;0.004	T	0.19516	-1.0303	9	.	.	.	-1.4074	18.9648	0.92692	0.0:1.0:0.0:0.0	.	365;365;365	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	E	365	ENSP00000320949:G365E;ENSP00000413113:G365E	.	G	-	2	0	CNOT1	57172871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.748000	0.85085	2.486000	0.83907	0.563000	0.77884	GGA		0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		9	36	0	0	0	1	0	9	36				
FCGBP	8857	broad.mit.edu	37	19	40433526	40433526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:40433526C>T	ENST00000221347.6	-	2	750	c.743G>A	c.(742-744)tGg>tAg	p.W248*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	248	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTGGGTGCCCCAGGCAGACGT	0.587																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(742-744)tGg>tAg		Fc fragment of IgG binding protein							64.0	57.0	59.0					19																	40433526		2203	4300	6503	SO:0001587	stop_gained	8857					extracellular region	protein binding	g.chr19:40433526C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.743G>A	19.37:g.40433526C>T	ENSP00000221347:p.Trp248*						p.W248*	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	750	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		248			IgGFc-binding.		O95784	Nonsense_Mutation	SNP	ENST00000221347.6	37	c.743G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090443	0.94149	.	.	ENSG00000090920	ENST00000221347	.	.	.	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9704	0.86297	0.0:1.0:0.0:0.0	.	.	.	.	X	248	.	ENSP00000221347:W248X	W	-	2	0	FCGBP	45125366	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	6.544000	0.73878	2.739000	0.93911	0.655000	0.94253	TGG		0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		28	59	0	0	0	1	0	28	59				
TBL3	10607	broad.mit.edu	37	16	2025058	2025058	+	Silent	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:2025058C>T	ENST00000568546.1	+	7	722	c.594C>T	c.(592-594)gtC>gtT	p.V198V		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	198					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						ACAGCGCCGTCACCTCACTGG	0.662																																					Melanoma(118;616 1651 35077 38081 48633)	ENST00000568546.1																			0				breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						c.(592-594)gtC>gtT		transducin (beta)-like 3							38.0	35.0	36.0					16																	2025058		2197	4298	6495	SO:0001819	synonymous_variant	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2025058C>T	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.594C>T	16.37:g.2025058C>T							p.V198V	NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN			7	722	+			198					Q59GD6|Q8IVB7|Q96A78	Silent	SNP	ENST00000568546.1	37	c.594C>T	CCDS10453.1																																																																																				0.662	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		6	61	0	0	0	1	0	6	61				
PCSK6	5046	broad.mit.edu	37	15	101922383	101922383	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:101922383G>A	ENST00000348070.1	-	12	1442	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Silent_p.D481D|PCSK6_ENST00000331826.7_Silent_p.D316D|PCSK6_ENST00000344273.2_Silent_p.D481D|PCSK6_ENST00000398181.2_Silent_p.D481D	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	482	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GAGCTTCTGCGTCCACCAAAC	0.567																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1441-1443)gaC>gaT		proprotein convertase subtilisin/kexin type 6							68.0	71.0	70.0					15																	101922383		2089	4234	6323	SO:0001819	synonymous_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101922383G>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1443C>T	15.37:g.101922383G>A						PCSK6_ENST00000358417.3_Silent_p.D481D|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Silent_p.D316D|PCSK6_ENST00000344273.2_Silent_p.D481D|PCSK6_ENST00000398181.2_Silent_p.D481D	p.D481D	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		12	1442	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		482					Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37	c.1443C>T																																																																																					0.567	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		5	18	0	0	0	1	0	5	18				
ST18	9705	broad.mit.edu	37	8	53092796	53092796	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:53092796T>A	ENST00000276480.7	-	9	846	c.163A>T	c.(163-165)Aaa>Taa	p.K55*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	55					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGCAGGGATTTCCTTTTGTTG	0.493																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(163-165)Aaa>Taa		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							228.0	199.0	209.0					8																	53092796		2203	4300	6503	SO:0001587	stop_gained	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53092796T>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.163A>T	8.37:g.53092796T>A	ENSP00000276480:p.Lys55*						p.K55*	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			9	846	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	55					Q17RY1	Nonsense_Mutation	SNP	ENST00000276480.7	37	c.163A>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	41	8.969611	0.99021	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7243	15.66	0.77178	0.0:0.0:0.0:1.0	.	.	.	.	X	55	.	ENSP00000276480:K55X	K	-	1	0	ST18	53255349	1.000000	0.71417	0.996000	0.52242	0.730000	0.41778	7.499000	0.81566	2.108000	0.64289	0.533000	0.62120	AAA		0.493	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			16	161	0	0	0	1	0	16	161				
TRPA1	8989	broad.mit.edu	37	8	72963052	72963052	+	Silent	SNP	T	T	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:72963052T>A	ENST00000262209.4	-	15	2073	c.1866A>T	c.(1864-1866)ccA>ccT	p.P622P	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	622					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTTCTGTAATTGGACATTTAT	0.333																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1864-1866)ccA>ccT		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						109.0	113.0	111.0					8																	72963052		2202	4298	6500	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72963052T>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1866A>T	8.37:g.72963052T>A						RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	p.P622P	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		15	2073	-			622					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.1866A>T	CCDS34908.1																																																																																				0.333	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		7	61	0	0	0	1	0	7	61				
TIMM13	26517	broad.mit.edu	37	19	2427444	2427444	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:2427444T>C	ENST00000215570.3	-	1	448	c.88A>G	c.(88-90)Atc>Gtc	p.I30V	TIMM13_ENST00000591871.1_Intron|LMNB2_ENST00000475819.1_5'Flank	NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN	translocase of inner mitochondrial membrane 13 homolog (yeast)	30					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	zinc ion binding (GO:0008270)			endometrium(1)|prostate(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCACGGCGATCTGCACTTTC	0.711																																						ENST00000215570.3																			0				endometrium(1)|prostate(1)	2						c.(88-90)Atc>Gtc		translocase of inner mitochondrial membrane 13 homolog (yeast)							37.0	40.0	39.0					19																	2427444		2203	4296	6499	SO:0001583	missense	26517				protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding	g.chr19:2427444T>C	AF152352	CCDS12089.1	19p13.3	2008-07-04	2001-11-28	2002-03-17		ENSG00000099800			11816	protein-coding gene	gene with protein product		607383	"""translocase of inner mitochondrial membrane 13 (yeast) homolog B"""	TIMM13B		10552927, 17329230	Standard	NM_012458		Approved	Tim13	uc002lvx.1	Q9Y5L4		ENST00000215570.3:c.88A>G	19.37:g.2427444T>C	ENSP00000215570:p.Ile30Val					TIMM13_ENST00000591871.1_Intron	p.I30V	NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	448	-		Hepatocellular(1079;0.137)	30					P62206|Q9UHL8|Q9WTL1	Missense_Mutation	SNP	ENST00000215570.3	37	c.88A>G	CCDS12089.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.702842	0.30232	.	.	ENSG00000099800	ENST00000215570	T	0.62788	0.0	3.69	1.5	0.22942	.	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	.	.	.	0.80722	D	1	B	0.31548	0.328	B	0.38225	0.268	T	0.34378	-0.9831	9	0.38643	T	0.18	-14.7013	4.8868	0.13706	0.0:0.1066:0.1883:0.7051	.	30	Q9Y5L4	TIM13_HUMAN	V	30	ENSP00000215570:I30V	ENSP00000215570:I30V	I	-	1	0	TIMM13	2378444	1.000000	0.71417	0.992000	0.48379	0.280000	0.26924	4.347000	0.59373	0.126000	0.18424	-0.461000	0.05368	ATC		0.711	TIMM13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451333.1			9	33	0	0	0	1	0	9	33				
SOBP	55084	broad.mit.edu	37	6	107955180	107955180	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:107955180G>A	ENST00000317357.5	+	6	1791	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCCCCTTGGCGTCCCGCCTCG	0.647																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(1132-1134)Gtc>Atc		sine oculis binding protein homolog (Drosophila)							73.0	81.0	78.0					6																	107955180		2029	4182	6211	SO:0001583	missense	55084						metal ion binding	g.chr6:107955180G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1132G>A	6.37:g.107955180G>A	ENSP00000318900:p.Val378Ile						p.V378I	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	1791	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	378			Pro-rich.			Missense_Mutation	SNP	ENST00000317357.5	37	c.1132G>A	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403155	0.42613	.	.	ENSG00000112320	ENST00000317357	T	0.33216	1.42	5.46	5.46	0.80206	.	0.082656	0.47852	D	0.000220	T	0.12347	0.0300	N	0.22421	0.69	0.38716	D	0.953336	P	0.50369	0.934	B	0.41813	0.367	T	0.03453	-1.1035	10	0.28530	T	0.3	-14.372	14.1786	0.65559	0.0:0.0:0.8503:0.1497	.	378	A7XYQ1	SOBP_HUMAN	I	378	ENSP00000318900:V378I	ENSP00000318900:V378I	V	+	1	0	SOBP	108061873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.615000	0.67702	2.552000	0.86080	0.561000	0.74099	GTC		0.647	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		54	134	0	0	0	1	0	54	134				
GALNT14	79623	broad.mit.edu	37	2	31360929	31360929	+	Silent	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:31360929C>A	ENST00000349752.5	-	1	663	c.24G>T	c.(22-24)ctG>ctT	p.L8L	GALNT14_ENST00000324589.5_Silent_p.L8L|GALNT14_ENST00000356174.3_Silent_p.L8L|GALNT14_ENST00000420311.2_5'Flank	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	8					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTGGCAGAACCAGCCGACGAG	0.672																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(22-24)ctG>ctT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							81.0	81.0	81.0					2																	31360929		2203	4300	6503	SO:0001819	synonymous_variant	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31360929C>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.24G>T	2.37:g.31360929C>A						GALNT14_ENST00000324589.5_Silent_p.L8L|GALNT14_ENST00000356174.3_Silent_p.L8L	p.L8L	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			1	663	-	Acute lymphoblastic leukemia(172;0.155)		8					B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	c.24G>T	CCDS1773.2																																																																																				0.672	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		7	63	1	0	0.0381472	1	0.038888	7	63				
FUT5	2527	broad.mit.edu	37	19	5867208	5867208	+	Missense_Mutation	SNP	C	C	T	rs140525878	byFrequency	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:5867208C>T	ENST00000588525.1	-	2	616	c.529G>A	c.(529-531)Gac>Aac	p.D177N	FUT5_ENST00000252675.5_Missense_Mutation_p.D177N	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	177					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GTGAAGATGTCGGAGTCGCTG	0.657													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		14098	0.0		0.0	False		,,,				2504	0.0					ENST00000252675.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(529-531)Gac>Aac		fucosyltransferase 5 (alpha (1,3) fucosyltransferase)		C	ASN/ASP	3,4399		0,3,2198	37.0	31.0	33.0		529	2.2	0.9	19	dbSNP_134	33	0,8586		0,0,4293	no	missense	FUT5	NM_002034.2	23	0,3,6491	TT,TC,CC		0.0,0.0682,0.0231	probably-damaging	177/375	5867208	3,12985	2201	4293	6494	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867208C>T		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.529G>A	19.37:g.5867208C>T	ENSP00000466880:p.Asp177Asn					FUT5_ENST00000588525.1_Missense_Mutation_p.D177N	p.D177N			Q11128	FUT5_HUMAN			5	1091	-			177					A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.529G>A	CCDS12154.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	19.03	3.747527	0.69533	6.82E-4	0.0	ENSG00000130383	ENST00000252675	T	0.37915	1.17	2.17	2.17	0.27698	.	0.000000	0.64402	U	0.000009	T	0.62441	0.2428	M	0.90019	3.08	0.32648	N	0.519817	D	0.89917	1.0	D	0.97110	1.0	T	0.73506	-0.3961	10	0.87932	D	0	.	9.9885	0.41856	0.0:1.0:0.0:0.0	.	177	Q11128	FUT5_HUMAN	N	177	ENSP00000252675:D177N	ENSP00000252675:D177N	D	-	1	0	FUT5	5818208	0.981000	0.34729	0.947000	0.38551	0.940000	0.58332	2.548000	0.45794	1.211000	0.43351	0.407000	0.27541	GAC		0.657	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		16	55	0	0	0	1	0	16	55				
RUNX2	860	broad.mit.edu	37	6	45390356	45390356	+	Missense_Mutation	SNP	C	C	A	rs114654066		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:45390356C>A	ENST00000371438.1	+	2	443	c.85C>A	c.(85-87)Ccc>Acc	p.P29T	RUNX2_ENST00000541979.1_Missense_Mutation_p.P97T|RUNX2_ENST00000359524.5_Missense_Mutation_p.P15T|RUNX2_ENST00000465038.2_Missense_Mutation_p.P29T|RUNX2_ENST00000371436.6_Missense_Mutation_p.P29T|RUNX2_ENST00000371432.3_Missense_Mutation_p.P15T|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Missense_Mutation_p.P97T|RUNX2_ENST00000576263.1_Missense_Mutation_p.P29T	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	29					BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCGCTTCAGCCCCCCCTCCAG	0.642																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(85-87)Ccc>Acc		runt-related transcription factor 2							37.0	49.0	45.0					6																	45390356		1937	3906	5843	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390356C>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.85C>A	6.37:g.45390356C>A	ENSP00000360493:p.Pro29Thr					RUNX2_ENST00000371432.3_Missense_Mutation_p.P15T|RUNX2_ENST00000465038.2_Missense_Mutation_p.P29T|RUNX2_ENST00000541979.1_Missense_Mutation_p.P97T|RUNX2_ENST00000576263.1_Missense_Mutation_p.P29T|RUNX2_ENST00000352853.5_Missense_Mutation_p.P97T|RUNX2_ENST00000359524.5_Missense_Mutation_p.P15T|RUNX2_ENST00000371436.6_Missense_Mutation_p.P29T	p.P29T	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	443	+			29					O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.85C>A	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	18.86	3.714124	0.68730	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;T;T;T	0.97089	-4.24;-4.22;-4.24;-4.24;1.09;1.09;1.09	3.06	3.06	0.35304	.	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	L	0.50333	1.59	0.80722	D	1	B;B;D	0.76494	0.435;0.076;0.999	B;B;D	0.78314	0.102;0.014;0.991	D	0.97636	1.0145	10	0.87932	D	0	-1.7108	14.1718	0.65514	0.0:1.0:0.0:0.0	.	97;29;15	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	T	29;97;97;29;29;15;15	ENSP00000420707:P29T;ENSP00000319087:P97T;ENSP00000446290:P97T;ENSP00000360493:P29T;ENSP00000360491:P29T;ENSP00000352514:P15T;ENSP00000360486:P15T	ENSP00000319087:P97T	P	+	1	0	RUNX2	45498334	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.233000	0.72320	1.708000	0.51301	0.407000	0.27541	CCC		0.642	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		38	76	1	0	1.41504e-22	1	1.76879e-22	38	76				
FMN2	56776	broad.mit.edu	37	1	240341300	240341300	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:240341300G>T	ENST00000319653.9	+	3	2092	c.1862G>T	c.(1861-1863)cGa>cTa	p.R621L	RP11-567G24.3_ENST00000412311.1_RNA|RP11-567G24.3_ENST00000444308.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	621					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.R764L(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTCCTAGGCGAGTTCCATCC	0.448																																						ENST00000319653.9																			1	Substitution - Missense(1)	p.R764L(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1861-1863)cGa>cTa		formin 2							100.0	96.0	97.0					1																	240341300		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240341300G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1862G>T	1.37:g.240341300G>T	ENSP00000318884:p.Arg621Leu					RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	p.R621L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		3	2092	+	Ovarian(103;0.127)	all_cancers(173;0.013)	621					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1862G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289449	0.23478	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T;T	0.80824	-1.42;-1.42	5.52	4.61	0.57282	.	0.088771	0.45361	D	0.000380	D	0.88418	0.6431	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	D	0.89928	0.4064	10	0.87932	D	0	.	14.3542	0.66724	0.0706:0.0:0.9294:0.0	.	621	Q9NZ56	FMN2_HUMAN	L	54;621	ENSP00000409308:R54L;ENSP00000318884:R621L	ENSP00000318884:R621L	R	+	2	0	FMN2	238407923	1.000000	0.71417	0.210000	0.23637	0.226000	0.24999	2.611000	0.46334	1.561000	0.49584	0.650000	0.86243	CGA		0.448	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		20	39	1	0	6.33239e-15	1	7.68671e-15	20	39				
CNBD1	168975	broad.mit.edu	37	8	88297017	88297017	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:88297017G>C	ENST00000518476.1	+	7	934	c.883G>C	c.(883-885)Gca>Cca	p.A295P		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	295										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TAAAATCCCAGCAAAGGGATA	0.363																																						ENST00000518476.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(883-885)Gca>Cca		cyclic nucleotide binding domain containing 1							54.0	50.0	51.0					8																	88297017		1830	4072	5902	SO:0001583	missense	168975							g.chr8:88297017G>C	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.883G>C	8.37:g.88297017G>C	ENSP00000430073:p.Ala295Pro						p.A295P	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			7	934	+			295						Missense_Mutation	SNP	ENST00000518476.1	37	c.883G>C	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436473	0.43224	.	.	ENSG00000176571	ENST00000518476	D	0.96830	-4.14	5.25	2.16	0.27623	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.695463	0.12436	N	0.469074	D	0.96097	0.8728	L	0.55481	1.735	0.09310	N	1	D	0.71674	0.998	D	0.64687	0.928	D	0.88833	0.3307	10	0.29301	T	0.29	-10.6314	5.5588	0.17131	0.0939:0.0:0.5596:0.3465	.	295	Q8NA66	CNBD1_HUMAN	P	295	ENSP00000430073:A295P	ENSP00000430073:A295P	A	+	1	0	CNBD1	88366133	0.849000	0.29639	0.017000	0.16124	0.676000	0.39594	1.302000	0.33459	0.534000	0.28695	0.591000	0.81541	GCA		0.363	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		6	5	0	0	0	1	0	6	5				
PAPD7	11044	broad.mit.edu	37	5	6746537	6746537	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:6746537C>T	ENST00000230859.6	+	7	835	c.706C>T	c.(706-708)Cca>Tca	p.P236S		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	466					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCCCTGCTGCCAGGTAAGGG	0.607																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(706-708)Cca>Tca		PAP associated domain containing 7							54.0	55.0	55.0					5																	6746537		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6746537C>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.706C>T	5.37:g.6746537C>T	ENSP00000230859:p.Pro236Ser						p.P236S	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			7	835	+			236			PAP-associated.		A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.706C>T	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672011	0.88348	.	.	ENSG00000112941	ENST00000230859	T	0.77620	-1.11	5.06	5.06	0.68205	PAP/25A-associated (1);	0.049705	0.85682	D	0.000000	D	0.88955	0.6578	M	0.82630	2.6	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	D	0.89745	0.3936	10	0.54805	T	0.06	0.9731	18.8036	0.92028	0.0:1.0:0.0:0.0	.	236;236	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	S	236	ENSP00000230859:P236S	ENSP00000230859:P236S	P	+	1	0	PAPD7	6799537	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	5.582000	0.67477	2.508000	0.84585	0.561000	0.74099	CCA		0.607	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		4	109	0	0	0	1	0	4	109				
GH1	2688	broad.mit.edu	37	17	61994708	61994708	+	Missense_Mutation	SNP	G	G	C	rs148474991		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:61994708G>C	ENST00000323322.5	-	5	657	c.615C>G	c.(613-615)atC>atG	p.I205M	GH1_ENST00000351388.4_Missense_Mutation_p.I165M|GH1_ENST00000458650.2_Missense_Mutation_p.I190M|GH1_ENST00000342364.4_Missense_Mutation_p.I110M|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	205			I -> M (in short stature; idiopathic autosomal). {ECO:0000269|PubMed:15001589}.		bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)	p.I205M(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGCACTGCACGATGCGCAGGA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		18658	0.0		0.0	False		,,,				2504	0.001					ENST00000323322.5																			1	Substitution - Missense(1)	p.I205M(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19	GRCh37	CM040745	GH1	M	rs148474991	c.(613-615)atC>atG		growth hormone 1		G	MET/ILE,MET/ILE,MET/ILE,MET/ILE,	1,4405	2.1+/-5.4	0,1,2202	149.0	116.0	127.0		615,570,495,330,	-1.0	1.0	17	dbSNP_134	127	4,8590	3.7+/-12.6	0,4,4293	no	missense,missense,missense,missense,utr-3	GH1	NM_000515.3,NM_022559.2,NM_022560.2,NM_022561.2,NM_022562.2	10,10,10,10,	0,5,6495	CC,CG,GG		0.0465,0.0227,0.0385	benign,benign,benign,benign,	205/218,190/203,165/178,110/123,	61994708	5,12995	2203	4297	6500	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61994708G>C	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.615C>G	17.37:g.61994708G>C	ENSP00000312673:p.Ile205Met					CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.I110M|GH1_ENST00000458650.2_Missense_Mutation_p.I190M|GH1_ENST00000351388.4_Missense_Mutation_p.I165M	p.I205M	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN			5	657	-			205		I -> M (in short stature; idiopathic autosomal).			A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.615C>G	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	g	5.999	0.368220	0.11352	2.27E-4	4.65E-4	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	2.62	-1.01	0.10169	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	17.051700	0.00166	N	0.000000	D	0.85809	0.5783	L	0.33753	1.03	0.21861	N	0.999508	B;B;B;B	0.13145	0.007;0.003;0.007;0.007	B;B;B;B	0.21708	0.023;0.026;0.036;0.013	T	0.70432	-0.4873	10	0.39692	T	0.17	.	7.4292	0.27118	0.1148:0.3032:0.582:0.0	.	110;165;205;190	B1A4G9;A6NEF6;P01241;B1A4G7	.;.;SOMA_HUMAN;.	M	205;190;165;110	ENSP00000312673:I205M;ENSP00000408486:I190M;ENSP00000343791:I165M;ENSP00000339278:I110M	ENSP00000312673:I205M	I	-	3	3	GH1	59348440	1.000000	0.71417	0.974000	0.42286	0.826000	0.46750	0.859000	0.27858	-0.324000	0.08589	-0.856000	0.03024	ATC		0.592	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		26	71	0	0	0	1	0	26	71				
RGL2	5863	broad.mit.edu	37	6	33263887	33263887	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:33263887G>A	ENST00000497454.1	-	6	1181	c.686C>T	c.(685-687)cCc>cTc	p.P229L	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Missense_Mutation_p.P147L|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	229					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGGATCGCCGGGGAGGGCCAG	0.682																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(685-687)cCc>cTc		ral guanine nucleotide dissociation stimulator-like 2							59.0	72.0	68.0					6																	33263887		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33263887G>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.686C>T	6.37:g.33263887G>A	ENSP00000420211:p.Pro229Leu					PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.P147L|RGL2_ENST00000437840.2_5'UTR	p.P229L	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			6	1181	-			229					B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.686C>T	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303269	0.60195	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.26067	1.76;1.76	4.88	4.88	0.63580	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.252680	0.39759	N	0.001276	T	0.06917	0.0176	N	0.19112	0.55	0.58432	D	0.999991	B;B	0.29862	0.052;0.259	B;B	0.22386	0.039;0.039	T	0.10917	-1.0609	10	0.39692	T	0.17	.	9.0288	0.36247	0.0979:0.0:0.9021:0.0	.	147;229	B4DG72;O15211	.;RGL2_HUMAN	L	229;93;147	ENSP00000420211:P229L;ENSP00000403070:P147L	ENSP00000400083:P93L	P	-	2	0	RGL2	33371865	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.413000	0.44618	2.512000	0.84698	0.643000	0.83706	CCC		0.682	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			24	162	0	0	0	1	0	24	162				
PAPPA2	60676	broad.mit.edu	37	1	176525975	176525975	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:176525975A>G	ENST00000367662.3	+	2	1681	c.517A>G	c.(517-519)Acc>Gcc	p.T173A	PAPPA2_ENST00000367661.3_Missense_Mutation_p.T173A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	173	Poly-Thr.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCCACTACTACCACCGCCAT	0.577																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(517-519)Acc>Gcc		pappalysin 2							74.0	83.0	80.0					1																	176525975		2066	4198	6264	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525975A>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.517A>G	1.37:g.176525975A>G	ENSP00000356634:p.Thr173Ala					PAPPA2_ENST00000367661.3_Missense_Mutation_p.T173A	p.T173A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1681	+			173			Poly-Thr.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.517A>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	3.107	-0.183581	0.06340	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.29917	4.8;1.55	3.51	-3.83	0.04269	.	0.845848	0.09654	U	0.773286	T	0.10423	0.0255	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34527	-0.9825	10	0.02654	T	1	.	6.1182	0.20137	0.3913:0.153:0.4557:0.0	.	173;173	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	A	173	ENSP00000356634:T173A;ENSP00000356633:T173A	ENSP00000356633:T173A	T	+	1	0	PAPPA2	174792598	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.117000	0.15583	-1.151000	0.02836	-1.366000	0.01203	ACC		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			46	72	0	0	0	1	0	46	72				
C6	729	broad.mit.edu	37	5	41199878	41199878	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:41199878C>G	ENST00000263413.3	-	4	701	c.437G>C	c.(436-438)tGt>tCt	p.C146S	C6_ENST00000337836.5_Missense_Mutation_p.C146S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	146	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACCACTGTCACAGCGAAATTT	0.418																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(436-438)tGt>tCt		complement component 6							118.0	119.0	119.0					5																	41199878		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41199878C>G	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.437G>C	5.37:g.41199878C>G	ENSP00000263413:p.Cys146Ser					C6_ENST00000337836.5_Missense_Mutation_p.C146S	p.C146S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			4	701	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	146			LDL-receptor class A.			Missense_Mutation	SNP	ENST00000263413.3	37	c.437G>C	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728530	0.89390	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.99927	-8.06;-8.06	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.99957	0.9982	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96501	0.9371	10	0.72032	D	0.01	-15.1403	19.3087	0.94175	0.0:1.0:0.0:0.0	.	146	P13671	CO6_HUMAN	S	146	ENSP00000338861:C146S;ENSP00000263413:C146S	ENSP00000263413:C146S	C	-	2	0	C6	41235635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.308000	0.59129	2.857000	0.98124	0.650000	0.86243	TGT		0.418	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			15	88	0	0	0	1	0	15	88				
MAP1B	4131	broad.mit.edu	37	5	71491562	71491562	+	Missense_Mutation	SNP	G	G	T	rs199792777		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:71491562G>T	ENST00000296755.7	+	5	2678	c.2380G>T	c.(2380-2382)Gct>Tct	p.A794S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	794					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGCCGCAGAGGCTGTCGCTGC	0.537																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(2380-2382)Gct>Tct		microtubule-associated protein 1B							43.0	47.0	46.0					5																	71491562		2203	4299	6502	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491562G>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2380G>T	5.37:g.71491562G>T	ENSP00000296755:p.Ala794Ser						p.A794S	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2678	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	794					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2380G>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	5.488	0.275068	0.10403	.	.	ENSG00000131711	ENST00000296755	T	0.03212	4.01	5.63	3.47	0.39725	.	0.108917	0.41194	D	0.000926	T	0.02610	0.0079	N	0.22421	0.69	0.28592	N	0.9096	B;B	0.20368	0.044;0.044	B;B	0.19148	0.024;0.024	T	0.40887	-0.9539	10	0.13853	T	0.58	-8.4036	8.5344	0.33355	0.1769:0.1356:0.6875:0.0	.	668;794	A2BDK6;P46821	.;MAP1B_HUMAN	S	794	ENSP00000296755:A794S	ENSP00000296755:A794S	A	+	1	0	MAP1B	71527318	0.621000	0.27077	0.971000	0.41717	0.148000	0.21650	2.043000	0.41231	1.333000	0.45449	0.655000	0.94253	GCT		0.537	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		9	76	1	0	3.09899e-07	1	3.49885e-07	9	76				
INPP4B	8821	broad.mit.edu	37	4	143044493	143044493	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:143044493G>A	ENST00000513000.1	-	21	2402	c.1969C>T	c.(1969-1971)Cac>Tac	p.H657Y	INPP4B_ENST00000509777.1_Missense_Mutation_p.H657Y|INPP4B_ENST00000262992.4_Missense_Mutation_p.H657Y|INPP4B_ENST00000308502.4_Missense_Mutation_p.H657Y|INPP4B_ENST00000508116.1_Missense_Mutation_p.H657Y	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	657					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CCCACTGTGTGAAGCTGCTGT	0.363																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1969-1971)Cac>Tac		inositol polyphosphate-4-phosphatase, type II, 105kDa							122.0	119.0	120.0					4																	143044493		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143044493G>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1969C>T	4.37:g.143044493G>A	ENSP00000425487:p.His657Tyr					INPP4B_ENST00000509777.1_Missense_Mutation_p.H657Y|INPP4B_ENST00000508116.1_Missense_Mutation_p.H657Y|INPP4B_ENST00000308502.4_Missense_Mutation_p.H657Y|INPP4B_ENST00000262992.4_Missense_Mutation_p.H657Y	p.H657Y	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			21	2402	-	all_hematologic(180;0.158)		657					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.1969C>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	8.393	0.840201	0.16891	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14	6.03	3.3	0.37823	.	0.152541	0.64402	N	0.000018	T	0.22936	0.0554	L	0.35793	1.09	0.53005	D	0.999967	B;B	0.19935	0.003;0.04	B;B	0.17722	0.003;0.019	T	0.11036	-1.0604	10	0.02654	T	1	.	10.2146	0.43160	0.2188:0.0:0.7812:0.0	.	528;657	B7Z6T2;O15327	.;INP4B_HUMAN	Y	657;657;657;528;657;657;472;472;657;528	ENSP00000425487:H657Y;ENSP00000262992:H657Y;ENSP00000308441:H657Y;ENSP00000423954:H657Y;ENSP00000422793:H657Y;ENSP00000426207:H472Y;ENSP00000427250:H657Y;ENSP00000421065:H528Y	ENSP00000262992:H657Y	H	-	1	0	INPP4B	143263943	1.000000	0.71417	0.963000	0.40424	0.924000	0.55760	4.995000	0.63908	0.394000	0.25230	0.557000	0.71058	CAC		0.363	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		5	46	0	0	0	1	0	5	46				
EGR1	1958	broad.mit.edu	37	5	137803316	137803316	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:137803316A>T	ENST00000239938.4	+	2	1450	c.1178A>T	c.(1177-1179)gAa>gTa	p.E393V		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	393					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CACACAGGCGAAAAGCCCTTC	0.582																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(1177-1179)gAa>gTa		early growth response 1							82.0	83.0	83.0					5																	137803316		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803316A>T	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1178A>T	5.37:g.137803316A>T	ENSP00000239938:p.Glu393Val						p.E393V	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1450	+			393						Missense_Mutation	SNP	ENST00000239938.4	37	c.1178A>T	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.644913	0.47258	.	.	ENSG00000120738	ENST00000239938	T	0.49720	0.77	4.2	4.2	0.49525	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	M	0.77820	2.39	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.72551	-0.4259	10	0.87932	D	0	-16.3039	12.6169	0.56582	1.0:0.0:0.0:0.0	.	393	P18146	EGR1_HUMAN	V	393	ENSP00000239938:E393V	ENSP00000239938:E393V	E	+	2	0	EGR1	137831215	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.139000	0.94554	1.768000	0.52137	0.460000	0.39030	GAA		0.582	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		18	120	0	0	0	1	0	18	120				
COL4A3	1285	broad.mit.edu	37	2	228169768	228169768	+	Silent	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:228169768A>G	ENST00000396578.3	+	47	4383	c.4221A>G	c.(4219-4221)gaA>gaG	p.E1407E	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1407	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CAGCTGGAGAAAAAGGCAACA	0.473																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(4219-4221)gaA>gaG		collagen, type IV, alpha 3 (Goodpasture antigen)							61.0	61.0	61.0					2																	228169768		1880	4116	5996	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228169768A>G		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4221A>G	2.37:g.228169768A>G						AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	p.E1407E	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	47	4383	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1407			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.4221A>G	CCDS42829.1																																																																																				0.473	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		5	30	0	0	0	1	0	5	30				
ZNF354C	30832	broad.mit.edu	37	5	178507032	178507032	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:178507032C>A	ENST00000315475.6	+	5	1905	c.1599C>A	c.(1597-1599)ttC>ttA	p.F533L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	533					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)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GGAAACCTTTCATCTGCAGCT	0.383																																						ENST00000315475.6																			0				endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(1597-1599)ttC>ttA		zinc finger protein 354C							84.0	89.0	87.0					5																	178507032		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178507032C>A		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1599C>A	5.37:g.178507032C>A	ENSP00000324064:p.Phe533Leu						p.F533L	NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	1905	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	533					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.1599C>A	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	C	7.832	0.720109	0.15372	.	.	ENSG00000177932	ENST00000315475	T	0.69685	-0.42	3.62	-1.96	0.07525	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66799	0.2826	M	0.90198	3.095	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59721	-0.7401	9	0.72032	D	0.01	-5.377	5.0126	0.14321	0.1411:0.46:0.0:0.3988	.	533	Q86Y25	Z354C_HUMAN	L	533	ENSP00000324064:F533L	ENSP00000324064:F533L	F	+	3	2	ZNF354C	178439638	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.977000	0.00664	-1.097000	0.03042	-2.489000	0.00195	TTC		0.383	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			32	56	1	0	3.57733e-08	1	4.10513e-08	32	56				
NAV3	89795	broad.mit.edu	37	12	78392148	78392148	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:78392148G>A	ENST00000397909.2	+	7	945	c.772G>A	c.(772-774)Gga>Aga	p.G258R	NAV3_ENST00000228327.6_Missense_Mutation_p.G258R|NAV3_ENST00000536525.2_Missense_Mutation_p.G258R|NAV3_ENST00000266692.7_Missense_Mutation_p.G258R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	258						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCCTGCTGCAGGAAGCAGCAG	0.418										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(772-774)Gga>Aga		neuron navigator 3							46.0	42.0	43.0					12																	78392148		1817	4079	5896	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78392148G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.772G>A	12.37:g.78392148G>A	ENSP00000381007:p.Gly258Arg	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Missense_Mutation_p.G258R|NAV3_ENST00000266692.7_Missense_Mutation_p.G258R|NAV3_ENST00000536525.2_Missense_Mutation_p.G258R	p.G258R			Q8IVL0	NAV3_HUMAN			7	945	+			258					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.772G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.63|16.63	3.176216|3.176216	0.57692|0.57692	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000550503	T;T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94;0.94|.	5.58|5.58	3.73|3.73	0.42828|0.42828	.|.	0.169382|.	0.27429|.	U|.	0.019405|.	T|T	0.61236|0.61236	0.2331|0.2331	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;D|.	0.89917|.	0.314;1.0|.	B;D|.	0.97110|.	0.107;1.0|.	T|T	0.56872|0.56872	-0.7907|-0.7907	10|5	0.87932|.	D|.	0|.	-8.8856|-8.8856	12.0629|12.0629	0.53572|0.53572	0.1398:0.0:0.8602:0.0|0.1398:0.0:0.8602:0.0	.|.	258;258|.	Q8IVL0;Q8IVL0-2|.	NAV3_HUMAN;.|.	R|K	258|81	ENSP00000446628:G258R;ENSP00000446132:G258R;ENSP00000381007:G258R;ENSP00000228327:G258R;ENSP00000266692:G258R|.	ENSP00000228327:G258R|.	G|R	+|+	1|2	0|0	NAV3|NAV3	76916279|76916279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.164000|5.164000	0.64954|0.64954	0.694000|0.694000	0.31654|0.31654	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.418	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		12	35	0	0	0	1	0	12	35				
BICD2	23299	broad.mit.edu	37	9	95482892	95482892	+	Missense_Mutation	SNP	C	C	T	rs533199924	byFrequency	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:95482892C>T	ENST00000375512.3	-	4	819	c.752G>A	c.(751-753)cGc>cAc	p.R251H	BICD2_ENST00000356884.6_Missense_Mutation_p.R251H	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	251					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTCTGTTCGCGCTCCGTCTT	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		18517	0.0		0.0	False		,,,				2504	0.002					ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(751-753)cGc>cAc		bicaudal D homolog 2 (Drosophila)							148.0	147.0	147.0					9																	95482892		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95482892C>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.752G>A	9.37:g.95482892C>T	ENSP00000364662:p.Arg251His					BICD2_ENST00000375512.3_Missense_Mutation_p.R251H	p.R251H	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			4	819	-			251					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.752G>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307164	0.95629	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.58358	0.34;0.34	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78043	-0.2358	10	0.52906	T	0.07	-41.9291	16.9688	0.86294	0.0:1.0:0.0:0.0	.	251;251	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	H	251	ENSP00000349351:R251H;ENSP00000364662:R251H	ENSP00000349351:R251H	R	-	2	0	BICD2	94522713	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.714000	0.84703	2.684000	0.91462	0.655000	0.94253	CGC		0.587	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		12	66	0	0	0	1	0	12	66				
SIM1	6492	broad.mit.edu	37	6	100838939	100838939	+	Silent	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:100838939C>T	ENST00000369208.3	-	12	2381	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V	SIM1_ENST00000262901.4_Silent_p.V533V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	533	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GAGAACTGACCACACTATCTT	0.423																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1597-1599)gtG>gtA		single-minded family bHLH transcription factor 1							62.0	64.0	63.0					6																	100838939		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838939C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1599G>A	6.37:g.100838939C>T						SIM1_ENST00000262901.4_Silent_p.V533V	p.V533V			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	12	2381	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	533			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1599G>A	CCDS5045.1																																																																																				0.423	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		12	35	0	0	0	1	0	12	35				
TIGIT	201633	broad.mit.edu	37	3	114014592	114014592	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:114014592G>T	ENST00000486257.1	+	3	519	c.262G>T	c.(262-264)Ggt>Tgt	p.G88C	TIGIT_ENST00000481065.1_Missense_Mutation_p.G155C|TIGIT_ENST00000383671.3_Missense_Mutation_p.G88C			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	88	Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						AGTGGCCCCAGGTCCCGGCCT	0.592																																						ENST00000481065.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(463-465)Ggt>Tgt		T cell immunoreceptor with Ig and ITIM domains							69.0	65.0	66.0					3																	114014592		2203	4300	6503	SO:0001583	missense	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114014592G>T	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.262G>T	3.37:g.114014592G>T	ENSP00000419085:p.Gly88Cys					TIGIT_ENST00000486257.1_Missense_Mutation_p.G88C|TIGIT_ENST00000383671.3_Missense_Mutation_p.G88C	p.G155C			Q495A1	TIGIT_HUMAN			3	3078	+			88					Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	c.463G>T	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380312	0.24944	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	4.6	3.71	0.42584	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.499900	0.18772	N	0.131587	T	0.73729	0.3624	M	0.64404	1.975	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.62946	-0.6746	10	0.48119	T	0.1	-5.6194	10.7755	0.46348	0.0:0.1922:0.8078:0.0	.	88	Q495A1	TIGIT_HUMAN	C	67;155;88;88;67	ENSP00000418917:G67C;ENSP00000420552:G155C;ENSP00000419085:G88C;ENSP00000373167:G88C;ENSP00000419706:G67C	ENSP00000373167:G88C	G	+	1	0	TIGIT	115497282	0.109000	0.22037	0.005000	0.12908	0.044000	0.14063	2.369000	0.44231	1.281000	0.44480	0.561000	0.74099	GGT		0.592	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		13	76	1	0	0.00010058	1	0.000108317	13	76				
PHRF1	57661	broad.mit.edu	37	11	592631	592631	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:592631G>A	ENST00000264555.5	+	6	705	c.577G>A	c.(577-579)Gac>Aac	p.D193N	PHRF1_ENST00000416188.2_Missense_Mutation_p.D193N|PHRF1_ENST00000413872.2_Missense_Mutation_p.D192N|PHRF1_ENST00000533464.1_Missense_Mutation_p.D189N	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	193					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CGGCAGGAGCGACCGTGAGGA	0.647																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(577-579)Gac>Aac		PHD and ring finger domains 1							134.0	154.0	147.0					11																	592631		2179	4255	6434	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:592631G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.577G>A	11.37:g.592631G>A	ENSP00000264555:p.Asp193Asn					PHRF1_ENST00000533464.1_Missense_Mutation_p.D189N|PHRF1_ENST00000416188.2_Missense_Mutation_p.D193N|PHRF1_ENST00000413872.2_Missense_Mutation_p.D192N	p.D193N	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			6	705	+			193					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.577G>A		.	.	.	.	.	.	.	.	.	.	G	16.61	3.172121	0.57584	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	4.11	3.19	0.36642	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.174086	0.27198	N	0.020479	D	0.86802	0.6020	L	0.53249	1.67	0.52501	D	0.999955	D;D;D;D	0.71674	0.998;0.997;0.997;0.998	P;P;P;P	0.56434	0.798;0.696;0.696;0.798	D	0.86348	0.1709	10	0.59425	D	0.04	-21.4407	10.7994	0.46480	0.0954:0.0:0.9045:0.0	.	189;192;193;193	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	N	193;192;193;189	ENSP00000264555:D193N;ENSP00000388589:D192N;ENSP00000410626:D193N;ENSP00000431870:D189N	ENSP00000264555:D193N	D	+	1	0	PHRF1	582631	1.000000	0.71417	0.770000	0.31555	0.039000	0.13416	7.357000	0.79456	0.952000	0.37798	-0.140000	0.14226	GAC		0.647	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		33	82	0	0	0	1	0	33	82				
TNS1	7145	broad.mit.edu	37	2	218700800	218700800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:218700800G>A	ENST00000171887.4	-	18	3219	c.2767C>T	c.(2767-2769)Cag>Tag	p.Q923*	TNS1_ENST00000419504.1_Nonsense_Mutation_p.Q923*|TNS1_ENST00000430930.1_Nonsense_Mutation_p.Q923*	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	923					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GAGACACACTGGACAGGGGAG	0.617																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(2767-2769)Cag>Tag		tensin 1							82.0	80.0	81.0					2																	218700800		2203	4300	6503	SO:0001587	stop_gained	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218700800G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2767C>T	2.37:g.218700800G>A	ENSP00000171887:p.Gln923*					TNS1_ENST00000419504.1_Nonsense_Mutation_p.Q923*|TNS1_ENST00000430930.1_Nonsense_Mutation_p.Q923*	p.Q923*	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	18	3219	-		Renal(207;0.0483)|Lung NSC(271;0.213)	923					Q4ZG71|Q6IPI5	Nonsense_Mutation	SNP	ENST00000171887.4	37	c.2767C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	46	12.588824	0.99680	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	.	.	.	5.28	5.28	0.74379	.	0.315845	0.29987	N	0.010690	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8577	0.88771	0.0:0.0:1.0:0.0	.	.	.	.	X	923;82;923;923	.	ENSP00000171887:Q923X	Q	-	1	0	TNS1	218409045	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.905000	0.87416	2.746000	0.94184	0.655000	0.94253	CAG		0.617	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		16	75	0	0	0	1	0	16	75				
PTCHD2	57540	broad.mit.edu	37	1	11584076	11584076	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:11584076G>C	ENST00000294484.6	+	11	2578	c.2440G>C	c.(2440-2442)Gtc>Ctc	p.V814L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V814L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	814					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGGCTCAGGGGTCCCCTGGGC	0.652																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(2440-2442)Gtc>Ctc		patched domain containing 2							34.0	41.0	39.0					1																	11584076		1903	4110	6013	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11584076G>C	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2440G>C	1.37:g.11584076G>C	ENSP00000294484:p.Val814Leu					PTCHD2_ENST00000389575.3_Missense_Mutation_p.V814L	p.V814L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	11	2578	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	814					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.2440G>C	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.316186	0.23908	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.89617	-2.54;-2.54	5.25	0.872	0.19113	.	1.316200	0.05006	N	0.470095	T	0.81569	0.4850	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67703	-0.5602	10	0.42905	T	0.14	-2.6594	9.375	0.38277	0.0:0.294:0.5169:0.1892	.	814	Q9P2K9	PTHD2_HUMAN	L	814	ENSP00000294484:V814L;ENSP00000374226:V814L	ENSP00000294484:V814L	V	+	1	0	PTCHD2	11506663	0.004000	0.15560	0.005000	0.12908	0.009000	0.06853	-0.022000	0.12480	0.573000	0.29400	0.561000	0.74099	GTC		0.652	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		9	57	0	0	0	1	0	9	57				
ZNF470	388566	broad.mit.edu	37	19	57088800	57088800	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:57088800A>C	ENST00000330619.8	+	6	1689	c.1003A>C	c.(1003-1005)Act>Cct	p.T335P	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.T335P	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	335					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)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GAGGGTCCACACTGGAGAGAA	0.443																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1003-1005)Act>Cct		zinc finger protein 470							69.0	67.0	68.0					19																	57088800		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57088800A>C	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1003A>C	19.37:g.57088800A>C	ENSP00000333223:p.Thr335Pro					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.T335P	p.T335P	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1689	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	335					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1003A>C	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529115	0.44969	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.25749	1.78;1.78	4.13	4.13	0.48395	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32315	0.0825	M	0.79258	2.445	0.24920	N	0.991988	B	0.31174	0.311	B	0.37833	0.259	T	0.42799	-0.9430	9	0.87932	D	0	.	4.2483	0.10682	0.6853:0.2086:0.1061:0.0	.	335	Q6ECI4	ZN470_HUMAN	P	335	ENSP00000375590:T335P;ENSP00000333223:T335P	ENSP00000333223:T335P	T	+	1	0	ZNF470	61780612	0.058000	0.20735	0.871000	0.34182	0.790000	0.44656	3.222000	0.51223	1.739000	0.51704	0.455000	0.32223	ACT		0.443	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		20	62	0	0	0	1	0	20	62				
OR2A25	392138	broad.mit.edu	37	7	143771499	143771499	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:143771499T>C	ENST00000408898.2	+	1	225	c.187T>C	c.(187-189)Tca>Cca	p.S63P		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTTCTTCCTCTCACACCTGGC	0.577																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(187-189)Tca>Cca		olfactory receptor, family 2, subfamily A, member 25							80.0	80.0	80.0					7																	143771499		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771499T>C		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.187T>C	7.37:g.143771499T>C	ENSP00000386167:p.Ser63Pro						p.S63P	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	225	+	Melanoma(164;0.0783)		63					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.187T>C	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.179255	0.38511	.	.	ENSG00000221933	ENST00000408898	T	0.01099	5.34	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10078	0.0247	H	0.96943	3.91	0.09310	N	1	D	0.76494	0.999	D	0.68353	0.957	T	0.28996	-1.0026	9	0.87932	D	0	-8.2108	7.1539	0.25626	0.0:0.0978:0.0:0.9022	.	63	A4D2G3	O2A25_HUMAN	P	63	ENSP00000386167:S63P	ENSP00000386167:S63P	S	+	1	0	OR2A25	143402432	0.000000	0.05858	0.929000	0.37066	0.321000	0.28281	0.032000	0.13732	2.047000	0.60756	0.460000	0.39030	TCA		0.577	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			7	112	0	0	0	1	0	7	112				
CAPZA1	829	broad.mit.edu	37	1	113197106	113197106	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:113197106G>A	ENST00000263168.3	+	5	911	c.239G>A	c.(238-240)gGt>gAt	p.G80D	snoU13_ENST00000459345.1_RNA|CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	80					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGAGCACGGTGACCTGGGT	0.348																																						ENST00000263168.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9						c.(238-240)gGt>gAt		capping protein (actin filament) muscle Z-line, alpha 1							61.0	67.0	65.0					1																	113197106		2202	4300	6502	SO:0001583	missense	829				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding	g.chr1:113197106G>A	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.239G>A	1.37:g.113197106G>A	ENSP00000263168:p.Gly80Asp					CAPZA1_ENST00000476936.1_Intron	p.G80D	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	911	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	80					Q53FQ6|Q6FHD5	Missense_Mutation	SNP	ENST00000263168.3	37	c.239G>A	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251398	0.80135	.	.	ENSG00000116489	ENST00000263168	.	.	.	4.69	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	M	0.86502	2.82	0.52099	D	0.999948	D	0.53885	0.963	P	0.58620	0.842	T	0.74241	-0.3729	9	0.41790	T	0.15	-27.5022	12.9856	0.58590	0.08:0.0:0.92:0.0	.	80	P52907	CAZA1_HUMAN	D	80	.	ENSP00000263168:G80D	G	+	2	0	CAPZA1	112998629	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.657000	0.98554	1.326000	0.45319	0.585000	0.79938	GGT		0.348	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135		7	34	0	0	0	1	0	7	34				
CFH	3075	broad.mit.edu	37	1	196712698	196712698	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:196712698T>C	ENST00000367429.4	+	20	3490	c.3250T>C	c.(3250-3252)Ttt>Ctt	p.F1084L		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1084	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTATGAAATGTTTGGGGATGA	0.388																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(3250-3252)Ttt>Ctt		complement factor H							242.0	235.0	238.0					1																	196712698		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196712698T>C	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3250T>C	1.37:g.196712698T>C	ENSP00000356399:p.Phe1084Leu						p.F1084L	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			20	3490	+			1084			Sushi 18.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.3250T>C	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	10.04	1.241536	0.22711	.	.	ENSG00000000971	ENST00000367429	T	0.63255	-0.03	4.96	3.81	0.43845	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.48059	0.1479	L	0.39085	1.19	0.09310	N	0.999995	B	0.18310	0.027	B	0.19391	0.025	T	0.33803	-0.9854	9	0.25751	T	0.34	.	5.9373	0.19173	0.165:0.0:0.1719:0.6631	.	1084	P08603	CFAH_HUMAN	L	1084	ENSP00000356399:F1084L	ENSP00000356399:F1084L	F	+	1	0	CFH	194979321	0.001000	0.12720	0.002000	0.10522	0.171000	0.22731	0.670000	0.25157	0.821000	0.34540	0.374000	0.22700	TTT		0.388	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		29	137	0	0	0	1	0	29	137				
RYR1	6261	broad.mit.edu	37	19	38943512	38943512	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:38943512C>T	ENST00000359596.3	+	13	1298	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	RYR1_ENST00000360985.3_Missense_Mutation_p.T433M|RYR1_ENST00000355481.4_Missense_Mutation_p.T433M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	433					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCGCTGGCACGGCGCTGCCC	0.657																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(1297-1299)aCg>aTg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						28.0	21.0	23.0					19																	38943512		2195	4299	6494	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38943512C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1298C>T	19.37:g.38943512C>T	ENSP00000352608:p.Thr433Met					RYR1_ENST00000360985.3_Missense_Mutation_p.T433M|RYR1_ENST00000359596.3_Missense_Mutation_p.T433M	p.T433M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		13	1429	+	all_cancers(60;7.91e-06)		433					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.1298C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547417	0.45383	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96651	-4.08;-4.08;-4.08	4.47	2.18	0.27775	.	.	.	.	.	D	0.94265	0.8158	L	0.36672	1.1	0.09310	N	1	D;D	0.71674	0.997;0.998	P;P	0.55222	0.648;0.771	D	0.87321	0.2318	9	0.49607	T	0.09	.	2.9728	0.05928	0.0:0.4936:0.2714:0.235	.	433;433	P21817-2;P21817	.;RYR1_HUMAN	M	433	ENSP00000352608:T433M;ENSP00000347667:T433M;ENSP00000354254:T433M	ENSP00000347667:T433M	T	+	2	0	RYR1	43635352	0.991000	0.36638	0.590000	0.28732	0.970000	0.65996	-0.022000	0.12480	1.091000	0.41335	0.558000	0.71614	ACG		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			11	16	0	0	0	1	0	11	16				
ITPRIPL1	150771	broad.mit.edu	37	2	96992391	96992391	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:96992391T>C	ENST00000439118.2	+	3	273	c.22T>C	c.(22-24)Tcc>Ccc	p.S8P	ITPRIPL1_ENST00000542887.1_5'UTR|ITPRIPL1_ENST00000536814.1_5'UTR|ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.S16P	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	8						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCAGAGGCCTCCATGGCTGT	0.522																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(46-48)Tcc>Ccc		inositol 1,4,5-trisphosphate receptor interacting protein-like 1							127.0	109.0	115.0					2																	96992391		2203	4300	6503	SO:0001583	missense	150771					integral to membrane		g.chr2:96992391T>C		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.22T>C	2.37:g.96992391T>C	ENSP00000389308:p.Ser8Pro					ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.S8P|ITPRIPL1_ENST00000536814.1_5'UTR|ITPRIPL1_ENST00000542887.1_5'UTR	p.S16P	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	457	+			8					F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	c.46T>C	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835534	0.32421	.	.	ENSG00000198885	ENST00000439118;ENST00000361124	T;T	0.20598	2.07;2.06	4.89	3.13	0.36017	.	.	.	.	.	T	0.09818	0.0241	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.001	T	0.14392	-1.0474	9	0.30078	T	0.28	.	7.7199	0.28725	0.0:0.1281:0.0:0.8719	.	16;8	Q6GPH6-2;Q6GPH6	.;IPIL1_HUMAN	P	8;16	ENSP00000389308:S8P;ENSP00000355121:S16P	ENSP00000355121:S16P	S	+	1	0	ITPRIPL1	96356118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.145000	0.31577	0.773000	0.33404	0.533000	0.62120	TCC		0.522	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		25	73	0	0	0	1	0	25	73				
TLE4	7091	broad.mit.edu	37	9	82321747	82321747	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:82321747C>T	ENST00000376552.2	+	11	1887	c.869C>T	c.(868-870)cCg>cTg	p.P290L	TLE4_ENST00000265284.6_Missense_Mutation_p.P265L|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Missense_Mutation_p.P290L|TLE4_ENST00000376520.4_Missense_Mutation_p.P290L|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	290					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AAAGATGCCCCGATTAGTCCA	0.517																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(868-870)cCg>cTg		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							184.0	181.0	182.0					9																	82321747		1927	4112	6039	SO:0001583	missense	7091							g.chr9:82321747C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.869C>T	9.37:g.82321747C>T	ENSP00000365735:p.Pro290Leu					TLE4_ENST00000376552.2_Missense_Mutation_p.P290L|TLE4_ENST00000265284.6_Missense_Mutation_p.P265L|TLE4_ENST00000376537.4_Missense_Mutation_p.P290L|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Intron	p.P290L			O60756	BCE1_HUMAN			11	1697	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.869C>T	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.484441|5.484441	0.96323|0.96323	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376552;ENST00000376520;ENST00000376537;ENST00000265284|ENST00000417836	T;T;T;T|.	0.55413|.	0.55;0.63;0.6;0.52|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.050138|.	0.85682|.	D|.	0.000000|.	D|.	0.82342|.	0.5016|.	M|M	0.81682|0.81682	2.555|2.555	0.80722|0.80722	D|D	1|1	B;B;B|.	0.32010|.	0.012;0.029;0.351|.	B;B;B|.	0.26416|.	0.008;0.031;0.069|.	T|.	0.81720|.	-0.0804|.	10|.	0.56958|.	D|.	0.05|.	-19.8175|-19.8175	20.2885|20.2885	0.98538|0.98538	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	265;290;290|.	F8W6T6;Q04727-3;Q04727|.	.;.;TLE4_HUMAN|.	L|X	290;290;290;265|23	ENSP00000365735:P290L;ENSP00000365703:P290L;ENSP00000365720:P290L;ENSP00000265284:P265L|.	ENSP00000265284:P265L|.	P|R	+|+	2|1	0|2	TLE4|TLE4	81511567|81511567	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.975000|0.975000	0.68041|0.68041	7.818000|7.818000	0.86416|0.86416	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.517	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		16	183	0	0	0	1	0	16	183				
IFT80	57560	broad.mit.edu	37	3	159976338	159976338	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:159976338C>T	ENST00000326448.7	-	20	2741	c.2309G>A	c.(2308-2310)aGc>aAc	p.S770N	IFT80_ENST00000496589.1_Missense_Mutation_p.S633N|IFT80_ENST00000483465.1_Missense_Mutation_p.S633N|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S941N	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	770					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TATACTCTTGCTGGATTGGCT	0.348																																						ENST00000326448.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(2308-2310)aGc>aAc		intraflagellar transport 80 homolog (Chlamydomonas)							253.0	233.0	240.0					3																	159976338		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:159976338C>T	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.2309G>A	3.37:g.159976338C>T	ENSP00000312778:p.Ser770Asn					RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S941N|IFT80_ENST00000496589.1_Missense_Mutation_p.S633N|IFT80_ENST00000483465.1_Missense_Mutation_p.S633N	p.S770N	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		20	2741	-			770					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.2309G>A	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	4.209	0.037515	0.08148	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;T;T	0.76186	0.11;-1.0;-1.0	5.1	0.0197	0.14122	.	0.234861	0.30667	U	0.009121	T	0.57858	0.2082	L	0.40543	1.245	0.21740	N	0.999567	B	0.02656	0.0	B	0.01281	0.0	T	0.38090	-0.9677	10	0.23891	T	0.37	.	6.3208	0.21217	0.0:0.5391:0.2444:0.2165	.	770	Q9P2H3	IFT80_HUMAN	N	770;633;633	ENSP00000312778:S770N;ENSP00000418196:S633N;ENSP00000420646:S633N	ENSP00000312778:S770N	S	-	2	0	IFT80	161459032	0.405000	0.25336	0.621000	0.29145	0.024000	0.10985	-0.459000	0.06728	-0.333000	0.08476	-0.140000	0.14226	AGC		0.348	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		4	58	0	0	0	1	0	4	58				
NDST4	64579	broad.mit.edu	37	4	115750948	115750948	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:115750948C>G	ENST00000264363.2	-	13	3175	c.2497G>C	c.(2497-2499)Gag>Cag	p.E833Q		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	833	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTATTACCTCTGGATCCATA	0.343																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2497-2499)Gag>Cag		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							76.0	78.0	77.0					4																	115750948		2202	4299	6501	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115750948C>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2497G>C	4.37:g.115750948C>G	ENSP00000264363:p.Glu833Gln						p.E833Q	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	13	3175	-		Ovarian(17;0.156)	833			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.2497G>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188884	0.57909	.	.	ENSG00000138653	ENST00000264363	T	0.57595	0.39	5.59	5.59	0.84812	Sulfotransferase domain (1);	0.049868	0.85682	D	0.000000	T	0.52693	0.1750	L	0.46947	1.48	0.52501	D	0.999951	B	0.20887	0.049	B	0.29267	0.1	T	0.44174	-0.9345	10	0.37606	T	0.19	.	19.951	0.97199	0.0:1.0:0.0:0.0	.	833	Q9H3R1	NDST4_HUMAN	Q	833	ENSP00000264363:E833Q	ENSP00000264363:E833Q	E	-	1	0	NDST4	115970397	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.539000	0.53604	2.782000	0.95742	0.637000	0.83480	GAG		0.343	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		5	26	0	0	0	1	0	5	26				
QKI	9444	broad.mit.edu	37	6	163991740	163991740	+	Nonstop_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:163991740T>C	ENST00000361752.3	+	8	1575	c.1024T>C	c.(1024-1026)Taa>Caa	p.*342Q	QKI_ENST00000361195.2_Nonstop_Mutation_p.*334Q	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	0					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CACCGGCAACTAACCTATGAC	0.438																																						ENST00000361752.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(1024-1026)Taa>Caa		QKI, KH domain containing, RNA binding							269.0	261.0	264.0					6																	163991740		2203	4300	6503	SO:0001578	stop_lost	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163991740T>C	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.1024T>C	6.37:g.163991740T>C	ENSP00000355094:p.*342Glnext*5					QKI_ENST00000361195.2_Nonstop_Mutation_p.*334Q	p.*342Q	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	8	1575	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	0					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Nonstop_Mutation	SNP	ENST00000361752.3	37	c.1024T>C	CCDS5285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.73|15.73	2.920382|2.920382	0.52653|0.52653	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000537883|ENST00000361752;ENST00000361195	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|.	.|.	.|.	.|.	T|.	0.65893|.	0.2735|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.65990|.	-0.6034|.	4|.	.|.	.|.	.|.	.|.	16.192|16.192	0.81996|0.81996	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	P|Q	238|342;334	.|.	.|.	L|X	+|+	2|1	0|0	QKI|QKI	163911730|163911730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.643000|7.643000	0.83403|0.83403	2.229000|2.229000	0.72834|0.72834	0.482000|0.482000	0.46254|0.46254	CTA|TAA		0.438	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		82	266	0	0	0	1	0	82	266				
ZMIZ1	57178	broad.mit.edu	37	10	81064919	81064919	+	Splice_Site	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:81064919A>G	ENST00000334512.5	+	20	2858		c.e20-1		ZMIZ1_ENST00000446377.2_5'Flank	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1						artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GTCTGTCTGCAGTGCTTTGAT	0.552																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.e20-1		zinc finger, MIZ-type containing 1							107.0	89.0	95.0					10																	81064919		2203	4300	6503	SO:0001630	splice_region_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81064919A>G	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2287-1A>G	10.37:g.81064919A>G								NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		20	2858	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)							Q5JSH9|Q7Z7E6	Splice_Site	SNP	ENST00000334512.5	37		CCDS7357.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436287	0.83885	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2203	0.73306	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZMIZ1	80734925	1.000000	0.71417	0.972000	0.41901	0.950000	0.60333	8.962000	0.93254	2.004000	0.58718	0.482000	0.46254	.		0.552	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338	Intron	14	50	0	0	0	1	0	14	50				
MCM4	4173	broad.mit.edu	37	8	48874624	48874624	+	Missense_Mutation	SNP	G	G	T	rs375628641		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:48874624G>T	ENST00000262105.2	+	3	456	c.247G>T	c.(247-249)Gac>Tac	p.D83Y	PRKDC_ENST00000338368.3_5'Flank|MCM4_ENST00000523944.1_Missense_Mutation_p.D83Y|PRKDC_ENST00000523565.1_5'Flank|PRKDC_ENST00000314191.2_5'Flank	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	83					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TATCCCTCTTGACTTTGATGT	0.453																																						ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(247-249)Gac>Tac		minichromosome maintenance complex component 4							73.0	78.0	76.0					8																	48874624		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48874624G>T		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.247G>T	8.37:g.48874624G>T	ENSP00000262105:p.Asp83Tyr					MCM4_ENST00000523944.1_Missense_Mutation_p.D83Y	p.D83Y	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			3	456	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	83					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.247G>T	CCDS6143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.43|18.43	3.621798|3.621798	0.66787|0.66787	.|.	.|.	ENSG00000104738|ENSG00000104738	ENST00000518221;ENST00000523944;ENST00000262105;ENST00000396826;ENST00000519170|ENST00000429229	T;T|.	0.03272|.	3.99;3.99|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.148730|.	0.64402|.	D|.	0.000010|.	T|T	0.69593|0.69593	0.3128|0.3128	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	P;P|.	0.47409|.	0.895;0.895|.	B;B|.	0.44278|.	0.445;0.445|.	T|T	0.71912|0.71912	-0.4449|-0.4449	10|6	0.87932|0.62326	D|D	0|0.03	-25.603|-25.603	18.7323|18.7323	0.91739|0.91739	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	83;83|.	B3KMX0;P33991|.	.;MCM4_HUMAN|.	Y|F	83;83;83;83;33|55	ENSP00000430194:D83Y;ENSP00000262105:D83Y|.	ENSP00000262105:D83Y|ENSP00000400689:L55F	D|L	+|+	1|3	0|2	MCM4|MCM4	49037177|49037177	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.985000|0.985000	0.73830|0.73830	8.861000|8.861000	0.92277|0.92277	2.483000|2.483000	0.83821|0.83821	0.561000|0.561000	0.74099|0.74099	GAC|TTG		0.453	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		7	93	1	0	0.27861	1	0.27861	7	93				
ARFGEF1	10565	broad.mit.edu	37	8	68150614	68150614	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:68150614C>G	ENST00000262215.3	-	22	3642	c.3253G>C	c.(3253-3255)Gat>Cat	p.D1085H	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D539H|ARFGEF1_ENST00000518230.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1085					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.D1085Y(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGAGCCTGATCTTTTGTTCCA	0.398																																						ENST00000262215.3																			1	Substitution - Missense(1)	p.D1085Y(1)	large_intestine(1)	breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3253-3255)Gat>Cat		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							103.0	95.0	98.0					8																	68150614		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68150614C>G	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3253G>C	8.37:g.68150614C>G	ENSP00000262215:p.Asp1085His					ARFGEF1_ENST00000518230.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D539H	p.D1085H	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		22	3642	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1085					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3253G>C	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461184	0.63513	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.20881	2.87;2.04	5.49	5.49	0.81192	Armadillo-type fold (1);	0.050719	0.85682	D	0.000000	T	0.16300	0.0392	N	0.14661	0.345	0.80722	D	1	P;B;B	0.41159	0.74;0.141;0.26	B;B;B	0.39068	0.289;0.212;0.289	T	0.03619	-1.1019	10	0.41790	T	0.15	.	19.3565	0.94416	0.0:1.0:0.0:0.0	.	1085;563;539	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	H	539;1085	ENSP00000428429:D539H;ENSP00000262215:D1085H	ENSP00000262215:D1085H	D	-	1	0	ARFGEF1	68313168	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.571000	0.86741	0.655000	0.94253	GAT		0.398	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		4	77	0	0	0	1	0	4	77				
MAPK7	5598	broad.mit.edu	37	17	19285691	19285691	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:19285691C>T	ENST00000308406.5	+	5	2461	c.2075C>T	c.(2074-2076)cCg>cTg	p.P692L	MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.P692L|MAPK7_ENST00000299612.7_Missense_Mutation_p.P553L|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.P692L	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	692	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTGGCCTGCCGCCCCCAGAC	0.632																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(2074-2076)cCg>cTg		mitogen-activated protein kinase 7							37.0	44.0	41.0					17																	19285691		2192	4280	6472	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19285691C>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2075C>T	17.37:g.19285691C>T	ENSP00000311005:p.Pro692Leu					MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Missense_Mutation_p.P553L|MAPK7_ENST00000395604.3_Missense_Mutation_p.P692L|MAPK7_ENST00000395602.4_Missense_Mutation_p.P692L	p.P692L	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			5	2461	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		692			May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.2075C>T	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	5.619	0.298842	0.10622	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.80304	-1.13;-1.36;-1.13;-1.13	5.26	4.29	0.51040	.	0.186298	0.47852	D	0.000204	T	0.75102	0.3804	L	0.54323	1.7	0.35912	D	0.831148	B	0.02656	0.0	B	0.01281	0.0	T	0.76515	-0.2931	10	0.87932	D	0	-3.0861	9.8342	0.40960	0.0:0.9045:0.0:0.0955	.	692	Q13164	MK07_HUMAN	L	692;553;692;692	ENSP00000311005:P692L;ENSP00000299612:P553L;ENSP00000378968:P692L;ENSP00000378966:P692L	ENSP00000299612:P553L	P	+	2	0	MAPK7	19226284	0.503000	0.26115	0.461000	0.27105	0.084000	0.17831	1.058000	0.30504	1.230000	0.43646	0.305000	0.20034	CCG		0.632	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		5	107	0	0	0	1	0	5	107				
DDHD1	80821	broad.mit.edu	37	14	53540558	53540558	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:53540558C>G	ENST00000323669.5	-	5	1296	c.1297G>C	c.(1297-1299)Gaa>Caa	p.E433Q	DDHD1_ENST00000357758.3_Missense_Mutation_p.E433Q|DDHD1_ENST00000395606.1_Missense_Mutation_p.E440Q	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	433					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTGCAGCTTCTCTCATCCTA	0.323																																						ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(1297-1299)Gaa>Caa		DDHD domain containing 1							71.0	71.0	71.0					14																	53540558		2203	4299	6502	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53540558C>G	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1297G>C	14.37:g.53540558C>G	ENSP00000327104:p.Glu433Gln					DDHD1_ENST00000323669.5_Missense_Mutation_p.E433Q|DDHD1_ENST00000395606.1_Missense_Mutation_p.E440Q	p.E433Q	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			5	1480	-	Breast(41;0.037)		433					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.1297G>C	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510351	0.64522	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.41400	1.0;1.0;1.0	5.96	5.96	0.96718	.	0.132645	0.64402	D	0.000003	T	0.38081	0.1027	N	0.25286	0.73	0.58432	D	0.999994	B;P;B	0.41910	0.046;0.764;0.046	B;B;B	0.43445	0.041;0.42;0.026	T	0.04635	-1.0937	10	0.30078	T	0.28	-11.6286	20.0032	0.97426	0.0:1.0:0.0:0.0	.	440;433;433	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	Q	433;440;433;304	ENSP00000327104:E433Q;ENSP00000378970:E440Q;ENSP00000350401:E433Q	ENSP00000327104:E433Q	E	-	1	0	DDHD1	52610308	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.197000	0.77814	2.814000	0.96858	0.655000	0.94253	GAA		0.323	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			13	35	0	0	0	1	0	13	35				
LOXL1	4016	broad.mit.edu	37	15	74240200	74240200	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:74240200G>T	ENST00000261921.7	+	5	1885	c.1559G>T	c.(1558-1560)tGg>tTg	p.W520L	LOXL1_ENST00000567675.1_3'UTR	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	520	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GACTGCCAGTGGATCGACATA	0.577																																						ENST00000261921.7																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1558-1560)tGg>tTg		lysyl oxidase-like 1							214.0	166.0	182.0					15																	74240200		2198	4297	6495	SO:0001583	missense	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74240200G>T	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1559G>T	15.37:g.74240200G>T	ENSP00000261921:p.Trp520Leu					LOXL1_ENST00000567675.1_3'UTR	p.W520L	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN			5	1885	+			520			Lysyl-oxidase like.		Q6NUL3|Q96BW7	Missense_Mutation	SNP	ENST00000261921.7	37	c.1559G>T	CCDS10253.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219291	0.58560	.	.	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.44881	0.91	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.93283	3.4	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.81980	-0.0684	10	0.87932	D	0	.	15.662	0.77193	0.0:0.0:1.0:0.0	.	520	Q08397	LOXL1_HUMAN	L	520;382	ENSP00000261921:W520L	ENSP00000261921:W520L	W	+	2	0	LOXL1	72027253	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	9.690000	0.98676	2.038000	0.60285	0.313000	0.20887	TGG		0.577	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		22	108	1	0	5.45024e-15	1	6.65436e-15	22	108				
GH1	2688	broad.mit.edu	37	17	61994788	61994788	+	Missense_Mutation	SNP	C	C	G	rs151243538		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:61994788C>G	ENST00000323322.5	-	5	577	c.535G>C	c.(535-537)Gat>Cat	p.D179H	GH1_ENST00000351388.4_Missense_Mutation_p.D139H|GH1_ENST00000458650.2_Missense_Mutation_p.D164H|GH1_ENST00000342364.4_Missense_Mutation_p.D84H|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	179					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						AGTGCGTCATCGTTGTGTGAG	0.542																																						ENST00000323322.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						c.(535-537)Gat>Cat		growth hormone 1							278.0	214.0	235.0					17																	61994788		2203	4300	6503	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61994788C>G	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.535G>C	17.37:g.61994788C>G	ENSP00000312673:p.Asp179His					CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.D84H|GH1_ENST00000458650.2_Missense_Mutation_p.D164H|GH1_ENST00000351388.4_Missense_Mutation_p.D139H	p.D179H	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN			5	577	-			179					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.535G>C	CCDS11653.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	0.303	-0.972431	0.02215	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71	2.62	-2.4	0.06583	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.431500	0.02031	N	0.048558	D	0.87160	0.6108	.	.	.	0.27260	N	0.958645	B;B;B;B	0.22003	0.004;0.063;0.014;0.014	B;B;B;B	0.33690	0.027;0.168;0.046;0.046	T	0.73770	-0.3878	9	0.48119	T	0.1	.	6.6254	0.22826	0.0:0.6488:0.1458:0.2055	.	84;139;179;164	B1A4G9;A6NEF6;P01241;B1A4G7	.;.;SOMA_HUMAN;.	H	179;164;139;84	ENSP00000312673:D179H;ENSP00000408486:D164H;ENSP00000343791:D139H;ENSP00000339278:D84H	ENSP00000312673:D179H	D	-	1	0	GH1	59348520	0.041000	0.20044	0.001000	0.08648	0.016000	0.09150	1.316000	0.33620	-0.690000	0.05142	-2.380000	0.00233	GAT		0.542	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		27	104	0	0	0	1	0	27	104				
MMAA	166785	broad.mit.edu	37	4	146567274	146567274	+	Silent	SNP	A	A	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:146567274A>T	ENST00000281317.5	+	4	1909	c.699A>T	c.(697-699)ggA>ggT	p.G233G	MMAA_ENST00000541599.1_5'UTR|RP11-557J10.4_ENST00000504555.1_RNA	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	233					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTGTGAAGGAGCGGGATATG	0.368																																						ENST00000281317.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17						c.(697-699)ggA>ggT		methylmalonic aciduria (cobalamin deficiency) cblA type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						195.0	182.0	186.0					4																	146567274		2203	4300	6503	SO:0001819	synonymous_variant	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146567274A>T	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.699A>T	4.37:g.146567274A>T						RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	p.G233G	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN			4	1909	+	all_hematologic(180;0.151)		233					B3KX40|Q495G7	Silent	SNP	ENST00000281317.5	37	c.699A>T	CCDS3766.1																																																																																				0.368	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			13	53	0	0	0	1	0	13	53				
RASSF2	9770	broad.mit.edu	37	20	4766896	4766896	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr20:4766896C>T	ENST00000379400.3	-	11	1087	c.892G>A	c.(892-894)Gta>Ata	p.V298I	RASSF2_ENST00000379376.2_Missense_Mutation_p.V298I|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	298	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AGCTTCTTTACTTCCCGATCT	0.527																																					Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(892-894)Gta>Ata		Ras association (RalGDS/AF-6) domain family member 2							156.0	162.0	160.0					20																	4766896		2203	4300	6503	SO:0001583	missense	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4766896C>T	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.892G>A	20.37:g.4766896C>T	ENSP00000368710:p.Val298Ile					RASSF2_ENST00000379376.2_Missense_Mutation_p.V298I|RASSF2_ENST00000478553.1_5'UTR	p.V298I	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			11	1087	-			298			SARAH.		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.892G>A	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	C	9.127	1.010490	0.19277	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.08634	3.07;3.07	5.29	5.29	0.74685	SARAH (1);	0.000000	0.85682	D	0.000000	T	0.04679	0.0127	N	0.08118	0	0.80722	D	1	B	0.17465	0.022	B	0.14578	0.011	T	0.19679	-1.0298	10	0.02654	T	1	.	17.6616	0.88193	0.0:1.0:0.0:0.0	.	298	P50749	RASF2_HUMAN	I	298	ENSP00000368710:V298I;ENSP00000368684:V298I	ENSP00000368684:V298I	V	-	1	0	RASSF2	4714896	1.000000	0.71417	0.992000	0.48379	0.892000	0.51952	7.191000	0.77763	2.756000	0.94617	0.561000	0.74099	GTA		0.527	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		57	143	0	0	0	1	0	57	143				
TTPA	7274	broad.mit.edu	37	8	63973974	63973974	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:63973974T>A	ENST00000260116.4	-	5	705	c.674A>T	c.(673-675)cAt>cTt	p.H225L	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	225	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GTTGTTCCCATGCATGTGAAT	0.388																																						ENST00000260116.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15						c.(673-675)cAt>cTt		tocopherol (alpha) transfer protein	Vitamin E(DB00163)						96.0	93.0	94.0					8																	63973974		2203	4300	6503	SO:0001583	missense	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63973974T>A	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.674A>T	8.37:g.63973974T>A	ENSP00000260116:p.His225Leu					TTPA_ENST00000521138.1_Intron	p.H225L	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN			5	705	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	225			CRAL-TRIO.		Q71V64	Missense_Mutation	SNP	ENST00000260116.4	37	c.674A>T	CCDS6178.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.891985	0.91889	.	.	ENSG00000137561	ENST00000260116	T	0.74209	-0.82	6.16	6.16	0.99307	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.86852	0.2024	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	225	P49638	TTPA_HUMAN	L	225	ENSP00000260116:H225L	ENSP00000260116:H225L	H	-	2	0	TTPA	64136528	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.173000	0.77612	2.367000	0.80283	0.528000	0.53228	CAT		0.388	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		3	37	0	0	0	1	0	3	37				
FOXA2	3170	broad.mit.edu	37	20	22563595	22563595	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr20:22563595G>A	ENST00000377115.4	-	3	448	c.267C>T	c.(265-267)ggC>ggT	p.G89G	FOXA2_ENST00000419308.2_Silent_p.G95G	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	89	Transactivation domain 1. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					AGCCGCCCATGCCCGCCATGG	0.771																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(265-267)ggC>ggT		forkhead box A2							6.0	7.0	7.0					20																	22563595		1873	3746	5619	SO:0001819	synonymous_variant	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|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.chr20:22563595G>A	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.267C>T	20.37:g.22563595G>A						FOXA2_ENST00000377115.4_Silent_p.G89G|FOXA2_ENST00000319993.4_Silent_p.G95G	p.G89G	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	469	-	Lung NSC(19;0.188)		89			Transactivation domain 1 (By similarity).		Q8WUW4|Q96DF7	Silent	SNP	ENST00000377115.4	37	c.267C>T	CCDS13147.1																																																																																				0.771	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			4	16	0	0	0	1	0	4	16				
GPR179	440435	broad.mit.edu	37	17	36483394	36483394	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:36483394G>A	ENST00000342292.4	-	11	6078	c.6058C>T	c.(6058-6060)Ccc>Tcc	p.P2020S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2020					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACTTCCCAGGGACAGGTCTCA	0.542																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(6058-6060)Ccc>Tcc		G protein-coupled receptor 179							94.0	90.0	91.0					17																	36483394		1972	4173	6145	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36483394G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6058C>T	17.37:g.36483394G>A	ENSP00000345060:p.Pro2020Ser					GPR179_ENST00000584976.1_Intron	p.P2020S	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	6078	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	2020						Missense_Mutation	SNP	ENST00000342292.4	37	c.6058C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990509	0.35131	.	.	ENSG00000188888	ENST00000342292	T	0.62105	0.05	4.88	1.7	0.24286	.	0.168832	0.28760	N	0.014235	T	0.45276	0.1334	L	0.41492	1.28	0.28972	N	0.889204	B	0.32829	0.386	B	0.27380	0.079	T	0.42682	-0.9437	10	0.52906	T	0.07	-8.7386	6.2411	0.20791	0.1745:0.1529:0.6726:0.0	.	2020	Q6PRD1	GP179_HUMAN	S	2020	ENSP00000345060:P2020S	ENSP00000345060:P2020S	P	-	1	0	GPR179	33736920	1.000000	0.71417	0.998000	0.56505	0.712000	0.41017	1.972000	0.40540	0.637000	0.30526	0.561000	0.74099	CCC		0.542	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			9	91	0	0	0	1	0	9	91				
TNK2	10188	broad.mit.edu	37	3	195595561	195595561	+	Silent	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:195595561C>A	ENST00000333602.6	-	12	2180	c.1563G>T	c.(1561-1563)gtG>gtT	p.V521V	TNK2_ENST00000428187.1_Silent_p.V553V|TNK2_ENST00000381916.2_Silent_p.V599V|TNK2_ENST00000392400.1_Silent_p.V521V	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	521				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGTCCTCGCTCACAGGGTCAT	0.652																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1561-1563)gtG>gtT		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						27.0	21.0	23.0					3																	195595561		1779	3389	5168	SO:0001819	synonymous_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595561C>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1563G>T	3.37:g.195595561C>A						TNK2_ENST00000392400.1_Silent_p.V521V|TNK2_ENST00000381916.2_Silent_p.V599V|TNK2_ENST00000428187.1_Silent_p.V553V	p.V521V	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2180	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	521	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	c.1563G>T	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	C	5.260	0.233492	0.09969	.	.	ENSG00000061938	ENST00000424563	.	.	.	5.15	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5198	0.39129	0.1297:0.6308:0.2394:0.0	.	.	.	.	L	131	.	.	X	-	2	2	TNK2	197079958	0.855000	0.29742	1.000000	0.80357	0.942000	0.58702	0.336000	0.19823	2.405000	0.81733	0.580000	0.79431	TGA		0.652	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		4	39	1	0	1.23904e-05	1	1.3552e-05	4	39				
RNF43	54894	broad.mit.edu	37	17	56492716	56492716	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:56492716T>C	ENST00000584437.1	-	1	2178	c.223A>G	c.(223-225)Ata>Gta	p.I75V	RNF43_ENST00000500597.2_Missense_Mutation_p.I75V|RNF43_ENST00000583753.1_Missense_Mutation_p.I75V|RNF43_ENST00000577716.1_Missense_Mutation_p.I75V|RNF43_ENST00000407977.2_Missense_Mutation_p.I75V|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000580014.1_5'Flank			Q68DV7	RNF43_HUMAN	ring finger protein 43	75					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGGAGTTATTTCAGCAACA	0.373																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(223-225)Ata>Gta		ring finger protein 43							74.0	71.0	72.0					17																	56492716		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492716T>C		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.223A>G	17.37:g.56492716T>C	ENSP00000463069:p.Ile75Val					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000583753.1_Missense_Mutation_p.I75V|RNF43_ENST00000407977.2_Missense_Mutation_p.I75V|RNF43_ENST00000577716.1_Missense_Mutation_p.I75V|RNF43_ENST00000500597.2_Missense_Mutation_p.I75V	p.I75V			Q68DV7	RNF43_HUMAN			1	2178	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		75					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.223A>G	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	T	6.405	0.442858	0.12164	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.07567	3.33;3.18	5.27	2.64	0.31445	.	0.444325	0.21363	N	0.075761	T	0.03434	0.0099	N	0.03608	-0.345	0.25189	N	0.990145	B;B	0.14012	0.009;0.003	B;B	0.16722	0.016;0.007	T	0.44620	-0.9316	10	0.23891	T	0.37	-7.3533	7.8077	0.29213	0.0:0.3323:0.0:0.6677	.	75;75	Q68DV7-2;Q68DV7	.;RNF43_HUMAN	V	75	ENSP00000385328:I75V;ENSP00000441969:I75V	ENSP00000385328:I75V	I	-	1	0	RNF43	53847715	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.888000	0.39708	0.271000	0.22005	-0.250000	0.11733	ATA		0.373	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		6	52	0	0	0	1	0	6	52				
RREB1	6239	broad.mit.edu	37	6	7230564	7230564	+	Silent	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:7230564G>T	ENST00000349384.6	+	10	2546	c.2232G>T	c.(2230-2232)ctG>ctT	p.L744L	RREB1_ENST00000379933.3_Silent_p.L744L|RREB1_ENST00000334984.6_Silent_p.L744L|RREB1_ENST00000379938.2_Silent_p.L744L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	744					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGGCCGAGCTGGTGGACGCCT	0.647																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2230-2232)ctG>ctT		ras responsive element binding protein 1							57.0	53.0	54.0					6																	7230564		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230564G>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2232G>T	6.37:g.7230564G>T						RREB1_ENST00000379933.3_Silent_p.L744L|RREB1_ENST00000349384.6_Silent_p.L744L|RREB1_ENST00000334984.6_Silent_p.L744L	p.L744L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2769	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	744					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.2232G>T	CCDS34336.1																																																																																				0.647	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			30	73	1	0	2.42023e-17	1	2.9897e-17	30	73				
NBPF1	55672	broad.mit.edu	37	1	16907242	16907242	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:16907242G>T	ENST00000430580.2	-	16	2476	c.1589C>A	c.(1588-1590)cCa>cAa	p.P530Q	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	530	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGGCTACCTGGGAGAATGTT	0.418																																						ENST00000430580.2																			0											c.(1588-1590)cCa>cAa		neuroblastoma breakpoint family, member 1							412.0	431.0	424.0					1																	16907242		2199	4294	6493	SO:0001583	missense	55672					cytoplasm		g.chr1:16907242G>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1589C>A	1.37:g.16907242G>T	ENSP00000474456:p.Pro530Gln						p.P530Q	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	16	2476	-			530			NBPF 2.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.1589C>A																																																																																					0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		12	826	1	0	6.49762e-13	1	7.70904e-13	12	826				
LARP4B	23185	broad.mit.edu	37	10	875361	875361	+	Silent	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:875361C>A	ENST00000316157.3	-	10	1129	c.1089G>T	c.(1087-1089)acG>acT	p.T363T		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	363					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TTGCTGACCACGTCTGGGGAG	0.507																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(1087-1089)acG>acT		La ribonucleoprotein domain family, member 4B							47.0	46.0	46.0					10																	875361		2203	4300	6503	SO:0001819	synonymous_variant	23185						nucleotide binding|RNA binding	g.chr10:875361C>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1089G>T	10.37:g.875361C>A							p.T363T	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			10	1129	-			363					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	ENST00000316157.3	37	c.1089G>T	CCDS31131.1																																																																																				0.507	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		10	20	1	0	0.000442599	1	0.000467065	10	20				
GPR116	221395	broad.mit.edu	37	6	46826191	46826191	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:46826191G>C	ENST00000283296.7	-	17	3737	c.3449C>G	c.(3448-3450)aCc>aGc	p.T1150S	GPR116_ENST00000456426.2_Missense_Mutation_p.T1008S|GPR116_ENST00000265417.7_Missense_Mutation_p.T1150S|GPR116_ENST00000545669.1_Missense_Mutation_p.T579S|GPR116_ENST00000362015.4_Missense_Mutation_p.T1150S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1150					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCGGGGCTGGGTGGCTCCCAG	0.552																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3448-3450)aCc>aGc		G protein-coupled receptor 116							30.0	31.0	31.0					6																	46826191		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826191G>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3449C>G	6.37:g.46826191G>C	ENSP00000283296:p.Thr1150Ser					GPR116_ENST00000362015.4_Missense_Mutation_p.T1150S|GPR116_ENST00000265417.7_Missense_Mutation_p.T1150S|GPR116_ENST00000545669.1_Missense_Mutation_p.T579S|GPR116_ENST00000456426.2_Missense_Mutation_p.T1008S	p.T1150S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3737	-			1150					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3449C>G	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026165	0.75390	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.38	5.38	0.77491	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000008	T	0.52484	0.1737	L	0.58925	1.835	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.998;0.995;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.988;0.98;0.999;0.977;0.999	T	0.53592	-0.8417	10	0.72032	D	0.01	-26.1476	19.5002	0.95091	0.0:0.0:1.0:0.0	.	579;705;1150;1008;1150	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	S	1150;1150;1150;1008;521;1150;579	ENSP00000283296:T1150S;ENSP00000354563:T1150S;ENSP00000412866:T1008S;ENSP00000265417:T1150S;ENSP00000441581:T579S	ENSP00000265417:T1150S	T	-	2	0	GPR116	46934150	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	7.673000	0.83973	2.679000	0.91253	0.650000	0.86243	ACC		0.552	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		4	40	0	0	0	1	0	4	40				
LPAL2	80350	broad.mit.edu	37	6	160921853	160921853	+	RNA	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:160921853G>A	ENST00000335388.5	-	0	285					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TGCTGGTGTGGCGTCATAGAT	0.453																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5															252.0	259.0	256.0					6																	160921853		2203	4300	6503			80350							g.chr6:160921853G>A	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160921853G>A								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	285	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																						0.453	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		62	183	0	0	0	1	0	62	183				
PCDH18	54510	broad.mit.edu	37	4	138452086	138452086	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:138452086T>C	ENST00000344876.4	-	1	1543	c.1157A>G	c.(1156-1158)gAc>gGc	p.D386G	PCDH18_ENST00000412923.2_Missense_Mutation_p.D386G|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.D166G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	386	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGAATCCTTGTCCTGAACTCT	0.343																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1156-1158)gAc>gGc		protocadherin 18							77.0	81.0	80.0					4																	138452086		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452086T>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1157A>G	4.37:g.138452086T>C	ENSP00000355082:p.Asp386Gly					PCDH18_ENST00000507846.1_Missense_Mutation_p.D166G|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D386G	p.D386G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1543	-	all_hematologic(180;0.24)		386			Cadherin 4.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1157A>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929140	0.73327	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.61627	0.09;0.09;0.09	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.000000	0.45867	D	0.000337	D	0.86707	0.5997	H	0.99225	4.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92287	0.5838	10	0.87932	D	0	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	166;386;386	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	G	386;386;166	ENSP00000355082:D386G;ENSP00000390688:D386G;ENSP00000425903:D166G	ENSP00000355082:D386G	D	-	2	0	PCDH18	138671536	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.991000	0.88244	2.313000	0.78055	0.455000	0.32223	GAC		0.343	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		15	41	0	0	0	1	0	15	41				
COL7A1	1294	broad.mit.edu	37	3	48610945	48610945	+	Splice_Site	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:48610945C>A	ENST00000328333.8	-	82	6726		c.e82+1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTAGACTCACCTTCAGGCCA	0.577																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.e82+1		collagen, type VII, alpha 1							107.0	105.0	106.0					3																	48610945		2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48610945C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6618+1G>T	3.37:g.48610945C>A						COL7A1_ENST00000454817.1_Splice_Site		NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	82	6726	-								Q14054|Q16507	Splice_Site	SNP	ENST00000328333.8	37		CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704941	0.68615	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9412	0.79756	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL7A1	48585949	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.517000	0.53443	2.449000	0.82847	0.561000	0.74099	.		0.577	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Intron	29	83	1	0	5.60225e-13	1	6.6845e-13	29	83				
SPHK2	56848	broad.mit.edu	37	19	49132281	49132281	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:49132281G>T	ENST00000245222.4	+	7	1582	c.1216G>T	c.(1216-1218)Gac>Tac	p.D406Y	SPHK2_ENST00000599748.1_Missense_Mutation_p.D370Y|SPHK2_ENST00000340932.3_Missense_Mutation_p.D368Y|SPHK2_ENST00000600537.1_Missense_Mutation_p.D347Y|SPHK2_ENST00000443164.1_Missense_Mutation_p.D468Y|SPHK2_ENST00000598088.1_Missense_Mutation_p.D406Y|SPHK2_ENST00000599029.1_Missense_Mutation_p.D370Y	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	406					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCTAACCCCAGAcccagcccc	0.692																																						ENST00000443164.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1402-1404)Gac>Tac		sphingosine kinase 2							28.0	29.0	28.0					19																	49132281		2203	4297	6500	SO:0001583	missense	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132281G>T	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1216G>T	19.37:g.49132281G>T	ENSP00000245222:p.Asp406Tyr					SPHK2_ENST00000600537.1_Missense_Mutation_p.D347Y|SPHK2_ENST00000245222.4_Missense_Mutation_p.D406Y|SPHK2_ENST00000340932.3_Missense_Mutation_p.D368Y|SPHK2_ENST00000599748.1_Missense_Mutation_p.D370Y|SPHK2_ENST00000598088.1_Missense_Mutation_p.D406Y|SPHK2_ENST00000599029.1_Missense_Mutation_p.D370Y	p.D468Y			Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	5	2107	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	406					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.1402G>T	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716933	0.30413	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.24350	2.21;1.89;1.86	3.88	2.84	0.33178	.	1.727610	0.03349	N	0.195857	T	0.12433	0.0302	N	0.08118	0	0.09310	N	1	B;P;B	0.48640	0.291;0.913;0.412	B;B;B	0.33846	0.087;0.171;0.133	T	0.13818	-1.0495	10	0.59425	D	0.04	-29.6283	6.7061	0.23252	0.1292:0.0:0.8708:0.0	.	347;468;406	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	Y	406;379;368;468	ENSP00000245222:D406Y;ENSP00000341091:D368Y;ENSP00000413369:D468Y	ENSP00000245222:D406Y	D	+	1	0	SPHK2	53824093	0.003000	0.15002	0.668000	0.29813	0.840000	0.47671	1.567000	0.36407	2.173000	0.68751	0.655000	0.94253	GAC		0.692	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			7	56	1	0	0.27861	1	0.27861	7	56				
COL5A2	1290	broad.mit.edu	37	2	189916191	189916191	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:189916191G>A	ENST00000374866.3	-	42	3060	c.2786C>T	c.(2785-2787)gCg>gTg	p.A929V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	929					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TAGGGGTCCCGCAGGTCCTGG	0.577																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(2785-2787)gCg>gTg		collagen, type V, alpha 2							27.0	29.0	29.0					2																	189916191		2202	4299	6501	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189916191G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2786C>T	2.37:g.189916191G>A	ENSP00000364000:p.Ala929Val						p.A929V	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		42	3060	-			929					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2786C>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578553	0.86645	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94537	-3.45	5.83	5.83	0.93111	.	0.270973	0.25887	N	0.027647	D	0.92948	0.7756	N	0.20685	0.6	0.50171	D	0.99985	P;D	0.60575	0.947;0.988	B;P	0.52514	0.212;0.701	D	0.91725	0.5392	9	.	.	.	.	20.1794	0.98193	0.0:0.0:1.0:0.0	.	569;929	Q5PR22;P05997	.;CO5A2_HUMAN	V	929;569	ENSP00000364000:A929V	.	A	-	2	0	COL5A2	189624436	1.000000	0.71417	0.989000	0.46669	0.958000	0.62258	9.601000	0.98297	2.771000	0.95319	0.644000	0.83932	GCG		0.577	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		4	39	0	0	0	1	0	4	39				
XPO5	57510	broad.mit.edu	37	6	43538706	43538706	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:43538706T>C	ENST00000265351.7	-	4	536	c.326A>G	c.(325-327)gAg>gGg	p.E109G		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	109					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AATATGGTTCTCCTCTTCCAA	0.408																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(325-327)gAg>gGg		exportin 5							150.0	148.0	149.0					6																	43538706		1881	4123	6004	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43538706T>C	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.326A>G	6.37:g.43538706T>C	ENSP00000265351:p.Glu109Gly						p.E109G	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		4	536	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		109					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.326A>G	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	T	33	5.201965	0.94997	.	.	ENSG00000124571	ENST00000265351	T	0.68025	-0.3	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71324	0.3326	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	T	0.69752	-0.5060	10	0.34782	T	0.22	-21.0231	16.3979	0.83621	0.0:0.0:0.0:1.0	.	109	Q9HAV4	XPO5_HUMAN	G	109	ENSP00000265351:E109G	ENSP00000265351:E109G	E	-	2	0	XPO5	43646684	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.757000	0.85209	2.333000	0.79357	0.533000	0.62120	GAG		0.408	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		33	143	0	0	0	1	0	33	143				
PAPPA2	60676	broad.mit.edu	37	1	176525684	176525684	+	Missense_Mutation	SNP	G	G	T	rs571516637		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:176525684G>T	ENST00000367662.3	+	2	1390	c.226G>T	c.(226-228)Ggg>Tgg	p.G76W	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G76W	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	76					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGCAGGGCTGGGAACTACCT	0.567																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(226-228)Ggg>Tgg		pappalysin 2							121.0	116.0	118.0					1																	176525684		1954	4133	6087	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525684G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.226G>T	1.37:g.176525684G>T	ENSP00000356634:p.Gly76Trp					PAPPA2_ENST00000367661.3_Missense_Mutation_p.G76W	p.G76W	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1390	+			76					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.226G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266247	0.40095	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.33654	4.62;1.4	4.63	4.63	0.57726	.	0.444638	0.17604	U	0.168329	T	0.49541	0.1563	L	0.51422	1.61	0.09310	N	1	D;D	0.67145	0.996;0.996	P;P	0.60068	0.748;0.868	T	0.40251	-0.9573	10	0.72032	D	0.01	-9.7345	12.9893	0.58610	0.0:0.0:1.0:0.0	.	76;76	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	W	76	ENSP00000356634:G76W;ENSP00000356633:G76W	ENSP00000356633:G76W	G	+	1	0	PAPPA2	174792307	0.294000	0.24380	0.084000	0.20598	0.551000	0.35334	1.796000	0.38794	2.128000	0.65567	0.561000	0.74099	GGG		0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			30	251	1	0	5.45727e-16	1	6.70191e-16	30	251				
LRRN1	57633	broad.mit.edu	37	3	3886868	3886868	+	Silent	SNP	T	T	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:3886868T>A	ENST00000319331.3	+	2	1304	c.543T>A	c.(541-543)gtT>gtA	p.V181V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	181						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AATTGAAAGTTATTGATAGTC	0.398																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(541-543)gtT>gtA		leucine rich repeat neuronal 1							101.0	110.0	107.0					3																	3886868		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3886868T>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.543T>A	3.37:g.3886868T>A						SUMF1_ENST00000534863.1_Intron	p.V181V	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1304	+			181					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.543T>A	CCDS33685.1																																																																																				0.398	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		16	66	0	0	0	1	0	16	66				
FMNL3	91010	broad.mit.edu	37	12	50040717	50040717	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:50040717G>A	ENST00000293590.5	-	25	3180	c.2947C>T	c.(2947-2949)Cgg>Tgg	p.R983W	FMNL3_ENST00000335154.5_Missense_Mutation_p.R983W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R932W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R982W			Q8IVF7	FMNL3_HUMAN	formin-like 3	983					actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TAAACAGGCCGGTGTTCCTTG	0.587																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(2947-2949)Cgg>Tgg		formin-like 3							100.0	105.0	104.0					12																	50040717		2047	4197	6244	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50040717G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2947C>T	12.37:g.50040717G>A	ENSP00000293590:p.Arg983Trp					FMNL3_ENST00000293590.5_Missense_Mutation_p.R983W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R982W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R932W	p.R983W	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			25	3180	-			983					B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.2947C>T		.	.	.	.	.	.	.	.	.	.	G	19.17	3.775631	0.70107	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;D;T	0.81659	-1.4;-1.41;-1.52;-1.4	4.25	3.35	0.38373	Actin-binding FH2/DRF autoregulatory (1);	0.000000	0.85682	D	0.000000	D	0.88012	0.6323	M	0.76328	2.33	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.992;0.994;0.985	D	0.88716	0.3226	10	0.66056	D	0.02	.	12.5936	0.56456	0.0:0.0:0.832:0.168	.	932;983;983	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	W	983;982;932;983	ENSP00000335655:R983W;ENSP00000447479:R982W;ENSP00000344311:R932W;ENSP00000293590:R983W	ENSP00000293590:R983W	R	-	1	2	FMNL3	48326984	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	1.296000	0.33389	1.114000	0.41781	-0.181000	0.13052	CGG		0.587	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		16	52	0	0	0	1	0	16	52				
COL1A1	1277	broad.mit.edu	37	17	48275342	48275342	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:48275342G>A	ENST00000225964.5	-	8	728	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	204	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TCACCAGGGGGACCTTGGAAG	0.488			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(610-612)Ccc>Tcc		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						44.0	50.0	48.0					17																	48275342		2203	4299	6502	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48275342G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.610C>T	17.37:g.48275342G>A	ENSP00000225964:p.Pro204Ser		OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	953		p.P204S	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			8	728	-			204			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.610C>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696609	0.68386	.	.	ENSG00000108821	ENST00000225964	D	0.96587	-4.06	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	N	0.13327	0.33	0.80722	D	1	P	0.46784	0.884	P	0.58970	0.849	D	0.94592	0.7788	10	0.35671	T	0.21	.	16.307	0.82852	0.0:0.0:1.0:0.0	.	204	P02452	CO1A1_HUMAN	S	204	ENSP00000225964:P204S	ENSP00000225964:P204S	P	-	1	0	COL1A1	45630341	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.760000	0.62235	2.441000	0.82636	0.650000	0.86243	CCC		0.488	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			15	47	0	0	0	1	0	15	47				
CRYZL1	9946	broad.mit.edu	37	21	34968063	34968063	+	Nonsense_Mutation	SNP	G	G	C	rs372845543		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr21:34968063G>C	ENST00000381554.3	-	11	963	c.878C>G	c.(877-879)tCa>tGa	p.S293*	CRYZL1_ENST00000480893.1_5'UTR|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Intron|CRYZL1_ENST00000290244.5_Nonsense_Mutation_p.S278*|CRYZL1_ENST00000361534.2_Nonsense_Mutation_p.S317*|CRYZL1_ENST00000381540.3_Nonsense_Mutation_p.S293*	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	293					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						TTGTACATTTGACAAATTCCA	0.363																																						ENST00000361534.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(949-951)tCa>tGa		crystallin, zeta (quinone reductase)-like 1							118.0	110.0	113.0					21																	34968063		2203	4300	6503	SO:0001587	stop_gained	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34968063G>C	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.878C>G	21.37:g.34968063G>C	ENSP00000370966:p.Ser293*					CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000381540.3_Nonsense_Mutation_p.S293*|CRYZL1_ENST00000381554.3_Nonsense_Mutation_p.S293*|CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Nonsense_Mutation_p.S278*	p.S317*			O95825	QORL1_HUMAN			12	1089	-			293					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Nonsense_Mutation	SNP	ENST00000381554.3	37	c.950C>G	CCDS13633.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238499	0.79800	.	.	ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000361534	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-13.5151	20.1535	0.98095	0.0:0.0:1.0:0.0	.	.	.	.	X	293;278;293;317	.	ENSP00000290244:S278X	S	-	2	0	CRYZL1	33889933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.722000	0.84778	2.764000	0.94973	0.650000	0.86243	TCA		0.363	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	NM_145858		4	38	0	0	0	1	0	4	38				
CCDC138	165055	broad.mit.edu	37	2	109463294	109463294	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:109463294A>G	ENST00000295124.4	+	12	1484	c.1424A>G	c.(1423-1425)gAg>gGg	p.E475G	CCDC138_ENST00000412964.2_Missense_Mutation_p.E475G	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	475										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CATTCTGTGGAGAATAAACCA	0.373																																						ENST00000295124.4																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(1423-1425)gAg>gGg		coiled-coil domain containing 138							80.0	77.0	78.0					2																	109463294		2203	4300	6503	SO:0001583	missense	165055							g.chr2:109463294A>G	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.1424A>G	2.37:g.109463294A>G	ENSP00000295124:p.Glu475Gly					CCDC138_ENST00000412964.2_Missense_Mutation_p.E475G	p.E475G	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN			12	1484	+			475					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	c.1424A>G	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.289166	0.40494	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	T;T	0.32272	1.46;1.46	5.91	3.53	0.40419	.	0.206618	0.44688	D	0.000427	T	0.24509	0.0594	L	0.48362	1.52	0.31794	N	0.629228	B;B	0.18461	0.024;0.028	B;B	0.20577	0.03;0.016	T	0.15723	-1.0427	10	0.48119	T	0.1	-1.9578	6.9788	0.24692	0.7209:0.1486:0.1304:0.0	.	475;475	Q96M89-2;Q96M89	.;CC138_HUMAN	G	475	ENSP00000411800:E475G;ENSP00000295124:E475G	ENSP00000295124:E475G	E	+	2	0	CCDC138	108829726	0.957000	0.32711	1.000000	0.80357	0.863000	0.49368	2.234000	0.43035	2.252000	0.74401	0.528000	0.53228	GAG		0.373	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		8	32	0	0	0	1	0	8	32				
MYH13	8735	broad.mit.edu	37	17	10219337	10219337	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:10219337G>A	ENST00000418404.3	-	27	3907	c.3744C>T	c.(3742-3744)aaC>aaT	p.N1248N	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.N1248N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1248					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCTTTCTATGTTACTCTTTA	0.408																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(3742-3744)aaC>aaT		myosin, heavy chain 13, skeletal muscle							109.0	102.0	104.0					17																	10219337		1896	4125	6021	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10219337G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3744C>T	17.37:g.10219337G>A						MYH13_ENST00000570743.1_Silent_p.N1248N|MYH13_ENST00000252172.4_Silent_p.N1248N	p.N1248N			Q9UKX3	MYH13_HUMAN			27	3907	-			1248					O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.3744C>T	CCDS45613.1																																																																																				0.408	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		20	27	0	0	0	1	0	20	27				
SNED1	25992	broad.mit.edu	37	2	242004861	242004861	+	Missense_Mutation	SNP	C	C	T	rs367564091		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:242004861C>T	ENST00000310397.8	+	21	2860	c.2860C>T	c.(2860-2862)Cgc>Tgc	p.R954C	SNED1_ENST00000401884.1_Missense_Mutation_p.R954C|SNED1_ENST00000405547.3_Missense_Mutation_p.R954C|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.R954C	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	954	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CTCCTACCGCCGCACAGACTT	0.637																																						ENST00000310397.8																			0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(2860-2862)Cgc>Tgc		sushi, nidogen and EGF-like domains 1		C	CYS/ARG	0,4042		0,0,2021	47.0	58.0	55.0		2860	3.9	1.0	2		55	1,8327		0,1,4163	no	missense	SNED1	NM_001080437.1	180	0,1,6184	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	954/1414	242004861	1,12369	2021	4164	6185	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:242004861C>T	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2860C>T	2.37:g.242004861C>T	ENSP00000308893:p.Arg954Cys					SNED1_ENST00000401884.1_Missense_Mutation_p.R954C|SNED1_ENST00000405547.3_Missense_Mutation_p.R954C|SNED1_ENST00000342631.6_Missense_Mutation_p.R954C	p.R954C	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	21	2860	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	954			Fibronectin type-III 1.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.2860C>T	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753082	0.69648	0.0	1.2E-4	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	4.8	3.88	0.44766	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000095	T	0.53530	0.1802	L	0.29908	0.895	0.39650	D	0.970452	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.66847	0.899;0.947;0.939	T	0.55503	-0.8131	10	0.49607	T	0.09	.	6.3486	0.21363	0.3256:0.5848:0.0:0.0896	.	954;954;954	Q8TER0-5;B5MEF5;Q8TER0	.;.;SNED1_HUMAN	C	954	ENSP00000384871:R954C;ENSP00000386007:R954C;ENSP00000308893:R954C;ENSP00000342992:R954C	ENSP00000308893:R954C	R	+	1	0	SNED1	241653534	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.647000	0.46639	2.226000	0.72624	0.655000	0.94253	CGC		0.637	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		25	71	0	0	0	1	0	25	71				
MAN2A1	4124	broad.mit.edu	37	5	109153073	109153073	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:109153073A>T	ENST00000261483.4	+	13	3095	c.2043A>T	c.(2041-2043)aaA>aaT	p.K681N		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	681					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CTTCAGGAAAACCTGTGGAAG	0.443																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2041-2043)aaA>aaT		mannosidase, alpha, class 2A, member 1							151.0	140.0	144.0					5																	109153073		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109153073A>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2043A>T	5.37:g.109153073A>T	ENSP00000261483:p.Lys681Asn						p.K681N	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	13	3095	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	681					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.2043A>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.709799	0.30322	.	.	ENSG00000112893	ENST00000261483	T	0.78481	-1.18	5.24	1.54	0.23209	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.677681	0.15491	N	0.259583	T	0.59335	0.2186	L	0.28740	0.885	0.09310	N	1	B	0.06786	0.001	B	0.19666	0.026	T	0.37776	-0.9691	10	0.13853	T	0.58	-1.4989	3.6445	0.08180	0.5648:0.0:0.2802:0.155	.	681	Q16706	MA2A1_HUMAN	N	681	ENSP00000261483:K681N	ENSP00000261483:K681N	K	+	3	2	MAN2A1	109180972	0.021000	0.18746	0.001000	0.08648	0.047000	0.14425	0.051000	0.14141	0.078000	0.16900	0.528000	0.53228	AAA		0.443	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			23	57	0	0	0	1	0	23	57				
DDX24	57062	broad.mit.edu	37	14	94528707	94528707	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:94528707C>A	ENST00000330836.5	-	3	1110	c.979G>T	c.(979-981)Gac>Tac	p.D327Y	DDX24_ENST00000555054.1_Missense_Mutation_p.D284Y|DDX24_ENST00000544005.1_Missense_Mutation_p.D77Y	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	327	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AACGCCTGGTCTGAGACAGTG	0.512																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(979-981)Gac>Tac		DEAD (Asp-Glu-Ala-Asp) box helicase 24							135.0	126.0	129.0					14																	94528707		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94528707C>A	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.979G>T	14.37:g.94528707C>A	ENSP00000328690:p.Asp327Tyr					DDX24_ENST00000555054.1_Missense_Mutation_p.D284Y|DDX24_ENST00000544005.1_Missense_Mutation_p.D77Y	p.D327Y	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	3	1110	-		all_cancers(154;0.12)	327			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.979G>T	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476134	0.63737	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000555054;ENST00000542247	T;T;T	0.03801	3.88;3.8;3.88	5.61	4.72	0.59763	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.534609	0.17286	N	0.179812	T	0.07638	0.0192	N	0.14661	0.345	0.20307	N	0.999918	D	0.57257	0.979	P	0.55222	0.771	T	0.30966	-0.9960	10	0.52906	T	0.07	-2.3414	14.041	0.64674	0.0:0.926:0.0:0.074	.	327	Q9GZR7	DDX24_HUMAN	Y	327;77;272;284;284	ENSP00000328690:D327Y;ENSP00000440623:D77Y;ENSP00000452145:D284Y	ENSP00000328690:D327Y	D	-	1	0	DDX24	93598460	0.017000	0.18338	0.122000	0.21767	0.102000	0.19082	1.346000	0.33964	1.504000	0.48704	0.655000	0.94253	GAC		0.512	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		46	124	1	0	2.0833e-19	1	2.58872e-19	46	124				
LRGUK	136332	broad.mit.edu	37	7	133884068	133884068	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:133884068G>C	ENST00000285928.2	+	14	1711	c.1642G>C	c.(1642-1644)Gga>Cga	p.G548R		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	548	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GCGGAGAAAAGGATTATTCAG	0.363																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1642-1644)Gga>Cga		leucine-rich repeats and guanylate kinase domain containing							110.0	121.0	117.0					7																	133884068		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133884068G>C	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1642G>C	7.37:g.133884068G>C	ENSP00000285928:p.Gly548Arg						p.G548R	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			14	1711	+			548			Guanylate kinase-like.		Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.1642G>C	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767025	0.90020	.	.	ENSG00000155530	ENST00000285928	T	0.52526	0.66	6.17	6.17	0.99709	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.74703	0.3751	M	0.85462	2.755	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.76094	-0.3085	10	0.72032	D	0.01	-30.0763	20.4745	0.99168	0.0:0.0:1.0:0.0	.	548	Q96M69	LRGUK_HUMAN	R	548	ENSP00000285928:G548R	ENSP00000285928:G548R	G	+	1	0	LRGUK	133534608	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.146000	0.89626	2.941000	0.99782	0.655000	0.94253	GGA		0.363	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		13	124	0	0	0	1	0	13	124				
IREB2	3658	broad.mit.edu	37	15	78782855	78782855	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:78782855T>G	ENST00000258886.8	+	17	2317	c.2168T>G	c.(2167-2169)tTt>tGt	p.F723C		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	723					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGCCCTTCATTTTTTGATAAA	0.323																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2167-2169)tTt>tGt		iron-responsive element binding protein 2							84.0	81.0	82.0					15																	78782855		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78782855T>G	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2168T>G	15.37:g.78782855T>G	ENSP00000258886:p.Phe723Cys						p.F723C	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	17	2317	+			723					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.2168T>G	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423296	0.83559	.	.	ENSG00000136381	ENST00000258886	T	0.28069	1.63	6.04	6.04	0.98038	Aconitase/3-isopropylmalate dehydratase, swivel (1);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76550	-0.2918	10	0.87932	D	0	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	723	P48200	IREB2_HUMAN	C	723	ENSP00000258886:F723C	ENSP00000258886:F723C	F	+	2	0	IREB2	76569910	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.469000	0.80959	2.317000	0.78254	0.459000	0.35465	TTT		0.323	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		13	34	0	0	0	1	0	13	34				
PRAMEF11	440560	broad.mit.edu	37	1	12884893	12884893	+	Silent	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:12884893C>T	ENST00000535591.1	-	4	1413	c.1218G>A	c.(1216-1218)agG>agA	p.R406R	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	406					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCTTGGGGTGCCTTAAGTGCC	0.498																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1216-1218)agG>agA		PRAME family member 11							86.0	67.0	72.0					1																	12884893		692	1590	2282	SO:0001819	synonymous_variant	440560							g.chr1:12884893C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1218G>A	1.37:g.12884893C>T							p.R406R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1413	-			406						Silent	SNP	ENST00000535591.1	37	c.1218G>A	CCDS53268.1																																																																																				0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		29	238	0	0	0	1	0	29	238				
CSMD2	114784	broad.mit.edu	37	1	34190302	34190302	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:34190302A>G	ENST00000373381.4	-	18	2875	c.2699T>C	c.(2698-2700)aTa>aCa	p.I900T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	860	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGCAGTGTTATAGCTGAAAG	0.517																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(2698-2700)aTa>aCa		CUB and Sushi multiple domains 2							52.0	51.0	51.0					1																	34190302		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34190302A>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2699T>C	1.37:g.34190302A>G	ENSP00000362479:p.Ile900Thr						p.I900T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			18	2875	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	860			Sushi 5.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.2699T>C		.	.	.	.	.	.	.	.	.	.	A	16.28	3.079322	0.55753	.	.	ENSG00000121904	ENST00000373381	T	0.60424	0.19	5.74	5.74	0.90152	CUB (3);	0.215200	0.39210	N	0.001438	T	0.50222	0.1603	L	0.33710	1.025	0.80722	D	1	B;B	0.20164	0.014;0.042	B;B	0.29524	0.045;0.103	T	0.43180	-0.9407	10	0.30854	T	0.27	.	15.2162	0.73267	1.0:0.0:0.0:0.0	.	860;900	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	900	ENSP00000362479:I900T	ENSP00000241312:I860T	I	-	2	0	CSMD2	33962889	1.000000	0.71417	0.565000	0.28409	0.859000	0.49053	9.194000	0.94962	2.186000	0.69663	0.533000	0.62120	ATA		0.517	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		7	41	0	0	0	1	0	7	41				
ACAD10	80724	broad.mit.edu	37	12	112130610	112130610	+	Silent	SNP	C	C	A	rs148699934	byFrequency	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:112130610C>A	ENST00000313698.4	+	2	252	c.97C>A	c.(97-99)Cga>Aga	p.R33R	ACAD10_ENST00000549590.1_Silent_p.R33R|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000455480.2_Silent_p.R33R	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	33						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGGGTCCCACCGATGGACACA	0.587																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(97-99)Cga>Aga		acyl-CoA dehydrogenase family, member 10							151.0	129.0	136.0					12																	112130610		2203	4300	6503	SO:0001819	synonymous_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112130610C>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.97C>A	12.37:g.112130610C>A						ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Silent_p.R33R|ACAD10_ENST00000313698.4_Silent_p.R33R	p.R33R	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			2	274	+			33					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	c.97C>A	CCDS31903.1																																																																																				0.587	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		33	112	1	0	2.47316e-13	1	2.96779e-13	33	112				
FGA	2243	broad.mit.edu	37	4	155507843	155507843	+	Silent	SNP	T	T	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:155507843T>A	ENST00000302053.3	-	5	816	c.738A>T	c.(736-738)ccA>ccT	p.P246P	FGA_ENST00000403106.3_Silent_p.P246P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	246					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTTCCACTCTGGGGGTACCT	0.473																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(736-738)ccA>ccT		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						126.0	133.0	131.0					4																	155507843		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507843T>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.738A>T	4.37:g.155507843T>A						FGA_ENST00000403106.3_Silent_p.P246P	p.P246P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	816	-	all_hematologic(180;0.215)	Renal(120;0.0458)	246					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.738A>T	CCDS3787.1																																																																																				0.473	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		13	74	0	0	0	1	0	13	74				
MUC16	94025	broad.mit.edu	37	19	9057047	9057047	+	Silent	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:9057047C>A	ENST00000397910.4	-	3	30602	c.30399G>T	c.(30397-30399)gtG>gtT	p.V10133V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10135	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						AGGGAGTACCCACTGGGTATG	0.468																																						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.(30397-30399)gtG>gtT		mucin 16, cell surface associated							69.0	66.0	67.0					19																	9057047		1929	4126	6055	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057047C>A	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.30399G>T	19.37:g.9057047C>A							p.V10133V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30602	-			10135			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30399G>T	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	25	1	0	0.000673444	1	0.000703598	11	25				
GRAMD1B	57476	broad.mit.edu	37	11	123474230	123474230	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:123474230G>T	ENST00000529750.1	+	8	1045	c.718G>T	c.(718-720)Gac>Tac	p.D240Y	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.D240Y|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.D247Y	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	240						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCCCCCTGACGACGACTTCAA	0.602																																						ENST00000529750.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(718-720)Gac>Tac		GRAM domain containing 1B							72.0	68.0	69.0					11																	123474230		1983	4165	6148	SO:0001583	missense	57476					integral to membrane		g.chr11:123474230G>T	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.718G>T	11.37:g.123474230G>T	ENSP00000436500:p.Asp240Tyr					GRAMD1B_ENST00000322282.7_Missense_Mutation_p.D240Y|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.D247Y	p.D240Y	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	8	1045	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	240					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.718G>T	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064454	0.76187	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.35048	1.73;1.73;1.73;1.74;1.33	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.59357	0.975;0.982;0.985;0.969	P;P;P;P	0.55303	0.77;0.77;0.773;0.594	T	0.37798	-0.9690	10	0.27082	T	0.32	.	18.8312	0.92141	0.0:0.0:1.0:0.0	.	200;247;240;247	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	Y	247;247;240;240;200;236	ENSP00000402457:D247Y;ENSP00000325628:D240Y;ENSP00000436500:D240Y;ENSP00000432987:D200Y;ENSP00000434214:D236Y	ENSP00000325628:D240Y	D	+	1	0	GRAMD1B	122979440	1.000000	0.71417	0.121000	0.21740	0.847000	0.48162	9.625000	0.98406	2.436000	0.82500	0.491000	0.48974	GAC		0.602	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		11	26	1	0	1.08611e-07	1	1.23288e-07	11	26				
HSD17B2	3294	broad.mit.edu	37	16	82131955	82131955	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:82131955G>A	ENST00000199936.4	+	5	1271	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	360					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TGGCATATATGATTACTTTGC	0.468																																						ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(1078-1080)Gat>Aat		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						144.0	136.0	139.0					16																	82131955		2201	4300	6501	SO:0001583	missense	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82131955G>A		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.1078G>A	16.37:g.82131955G>A	ENSP00000199936:p.Asp360Asn					RP11-510J16.5_ENST00000567021.1_RNA	p.D360N	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			5	1271	+			360					B2R7T4	Missense_Mutation	SNP	ENST00000199936.4	37	c.1078G>A	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	g	12.96	2.094696	0.36952	.	.	ENSG00000086696	ENST00000199936	T	0.42131	0.98	5.57	4.61	0.57282	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	M	0.79011	2.435	0.43321	D	0.995345	B	0.11235	0.004	B	0.20384	0.029	T	0.41270	-0.9518	10	0.40728	T	0.16	.	15.6642	0.77213	0.0746:0.0:0.9254:0.0	.	360	P37059	DHB2_HUMAN	N	360	ENSP00000199936:D360N	ENSP00000199936:D360N	D	+	1	0	HSD17B2	80689456	1.000000	0.71417	0.344000	0.25628	0.002000	0.02628	4.722000	0.61958	0.842000	0.35045	-0.797000	0.03246	GAT		0.468	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		36	90	0	0	0	1	0	36	90				
NCKAP1L	3071	broad.mit.edu	37	12	54914562	54914562	+	Silent	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:54914562G>T	ENST00000293373.6	+	17	1789	c.1710G>T	c.(1708-1710)ctG>ctT	p.L570L	NCKAP1L_ENST00000545638.2_Silent_p.L520L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	570					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTTTCCCCCTGATTTGTGCTC	0.473																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1708-1710)ctG>ctT		NCK-associated protein 1-like							425.0	363.0	384.0					12																	54914562		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54914562G>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1710G>T	12.37:g.54914562G>T						NCKAP1L_ENST00000545638.2_Silent_p.L520L	p.L570L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			17	1789	+			570					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.1710G>T	CCDS31813.1																																																																																				0.473	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		39	194	1	0	9.62906e-15	1	1.16213e-14	39	194				
CPA4	51200	broad.mit.edu	37	7	129950640	129950640	+	Silent	SNP	C	C	T	rs144517019	byFrequency	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:129950640C>T	ENST00000222482.4	+	9	835	c.807C>T	c.(805-807)agC>agT	p.S269S	CPA4_ENST00000445470.2_Silent_p.S236S|CPA4_ENST00000493259.1_Silent_p.S165S	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	269					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AGGGAGCCAGCGACAACCCTT	0.498													C|||	5	0.000998403	0.003	0.0	5008	,	,		20875	0.0		0.001	False		,,,				2504	0.0					ENST00000222482.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(805-807)agC>agT		carboxypeptidase A4		C	,	4,4402	9.9+/-24.2	0,4,2199	71.0	67.0	68.0		708,807	-4.9	0.0	7	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CPA4	NM_001163446.1,NM_016352.3	,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,	236/389,269/422	129950640	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129950640C>T	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.807C>T	7.37:g.129950640C>T						CPA4_ENST00000493259.1_Silent_p.S165S|CPA4_ENST00000445470.2_Silent_p.S236S	p.S269S	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN			9	835	+	Melanoma(18;0.0435)		269					B7Z576|Q86UY9	Silent	SNP	ENST00000222482.4	37	c.807C>T	CCDS5818.1																																																																																				0.498	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		7	78	0	0	0	1	0	7	78				
DDX26B	203522	broad.mit.edu	37	X	134711240	134711240	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chrX:134711240G>A	ENST00000370752.4	+	14	2230	c.1896G>A	c.(1894-1896)agG>agA	p.R632R	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	632										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGTTGAGGAAACCACAAA	0.502																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(1894-1896)agG>agA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							252.0	204.0	220.0					X																	134711240		2203	4300	6503	SO:0001819	synonymous_variant	203522							g.chrX:134711240G>A	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1896G>A	X.37:g.134711240G>A						DDX26B_ENST00000493637.1_Intron	p.R632R	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			14	2230	+	Acute lymphoblastic leukemia(192;6.56e-05)		632					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	ENST00000370752.4	37	c.1896G>A	CCDS35401.1																																																																																				0.502	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		4	136	0	0	0	1	0	4	136				
ASTE1	28990	broad.mit.edu	37	3	130737356	130737356	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:130737356T>A	ENST00000264992.3	-	4	1948	c.1507A>T	c.(1507-1509)Agc>Tgc	p.S503C	ASTE1_ENST00000514044.1_Missense_Mutation_p.S503C	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	503					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CTACCAGGGCTGTTGATTATG	0.418																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(1507-1509)Agc>Tgc		asteroid homolog 1 (Drosophila)							171.0	157.0	162.0					3																	130737356		2203	4300	6503	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130737356T>A	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1507A>T	3.37:g.130737356T>A	ENSP00000264992:p.Ser503Cys					ASTE1_ENST00000514044.1_Missense_Mutation_p.S503C	p.S503C	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			4	1948	-			503					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.1507A>T	CCDS3068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.230|8.230	0.804478|0.804478	0.16467|0.16467	.|.	.|.	ENSG00000034533|ENSG00000034533	ENST00000446270|ENST00000514044;ENST00000264992	.|.	.|.	.|.	5.71|5.71	1.69|1.69	0.24217|0.24217	.|.	.|0.601862	.|0.19507	.|N	.|0.112617	T|T	0.42063|0.42063	0.1186|0.1186	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	.|B;B	.|0.15719	.|0.014;0.002	.|B;B	.|0.12156	.|0.007;0.002	T|T	0.43048|0.43048	-0.9415|-0.9415	6|9	0.46703|0.66056	T|D	0.11|0.02	-6.4007|-6.4007	9.7836|9.7836	0.40662|0.40662	0.0:0.2388:0.0:0.7612|0.0:0.2388:0.0:0.7612	.|.	.|503;503	.|D6RG30;Q2TB18	.|.;ASTE1_HUMAN	L|C	395|503	.|.	ENSP00000396981:Q395L|ENSP00000264992:S503C	Q|S	-|-	2|1	0|0	ASTE1|ASTE1	132220046|132220046	0.129000|0.129000	0.22400|0.22400	0.884000|0.884000	0.34674|0.34674	0.062000|0.062000	0.15995|0.15995	1.046000|1.046000	0.30354|0.30354	0.452000|0.452000	0.26830|0.26830	0.528000|0.528000	0.53228|0.53228	CAG|AGC		0.418	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		16	109	0	0	0	1	0	16	109				
ARHGAP24	83478	broad.mit.edu	37	4	86916648	86916648	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:86916648G>T	ENST00000395184.1	+	9	2307	c.1841G>T	c.(1840-1842)aGg>aTg	p.R614M	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.R521M|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R519M	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	614					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AGTGACCACAGGAGTGTGGGA	0.537																																						ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1840-1842)aGg>aTg		Rho GTPase activating protein 24							98.0	93.0	95.0					4																	86916648		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86916648G>T	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1841G>T	4.37:g.86916648G>T	ENSP00000378611:p.Arg614Met					ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R519M|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.R521M	p.R614M	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	2307	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	614					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.1841G>T	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312587	0.60414	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.14766	2.83;2.49;2.49;2.48	5.73	5.73	0.89815	.	0.045477	0.85682	D	0.000000	T	0.33731	0.0873	M	0.65975	2.015	0.47819	D	0.999528	D;D;D	0.69078	0.989;0.975;0.997	P;P;P	0.58660	0.843;0.796;0.781	T	0.00597	-1.1652	10	0.41790	T	0.15	.	19.8932	0.96939	0.0:0.0:1.0:0.0	.	519;521;614	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	M	614;519;529;521	ENSP00000378611:R614M;ENSP00000378610:R519M;ENSP00000425589:R529M;ENSP00000264343:R521M	ENSP00000264343:R521M	R	+	2	0	ARHGAP24	87135672	1.000000	0.71417	0.946000	0.38457	0.867000	0.49689	8.993000	0.93524	2.710000	0.92621	0.491000	0.48974	AGG		0.537	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		4	107	1	0	1.23904e-05	1	1.3552e-05	4	107				
ZNF174	7727	broad.mit.edu	37	16	3452344	3452344	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:3452344A>T	ENST00000268655.4	+	1	925	c.340A>T	c.(340-342)Agc>Tgc	p.S114C	ZNF174_ENST00000572544.1_Missense_Mutation_p.S114C|ZSCAN32_ENST00000439568.2_5'Flank|ZNF174_ENST00000575752.1_Missense_Mutation_p.S114C|ZSCAN32_ENST00000422427.2_5'Flank|ZNF174_ENST00000571936.1_Missense_Mutation_p.S114C|ZSCAN32_ENST00000573830.1_5'Flank|ZSCAN32_ENST00000304926.3_5'Flank|ZSCAN32_ENST00000396852.4_5'Flank|ZNF174_ENST00000344823.5_Missense_Mutation_p.S114C	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	114	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TCCAATGAGCAGCAAGGAGAT	0.537																																						ENST00000268655.4																			0				endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						c.(340-342)Agc>Tgc		zinc finger protein 174							70.0	71.0	71.0					16																	3452344		2197	4300	6497	SO:0001583	missense	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3452344A>T	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.340A>T	16.37:g.3452344A>T	ENSP00000268655:p.Ser114Cys					ZNF174_ENST00000575752.1_Missense_Mutation_p.S114C|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000344823.5_Missense_Mutation_p.S114C|ZNF174_ENST00000571936.1_Missense_Mutation_p.S114C|ZNF174_ENST00000572544.1_Missense_Mutation_p.S114C	p.S114C	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN			1	925	+			114			SCAN box.		Q53Y68|Q9BQ34	Missense_Mutation	SNP	ENST00000268655.4	37	c.340A>T	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.235395	0.39498	.	.	ENSG00000103343	ENST00000344823;ENST00000268655	T;T	0.04502	3.61;3.61	4.5	1.01	0.19927	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.217979	0.33092	N	0.005284	T	0.07143	0.0181	N	0.21373	0.66	0.34777	D	0.734371	D;D;B	0.89917	0.999;1.0;0.43	D;D;B	0.87578	0.987;0.998;0.191	T	0.46062	-0.9218	10	0.56958	D	0.05	.	0.7515	0.00991	0.4858:0.169:0.1822:0.163	.	114;114;114	Q15697;Q15697-2;Q8IZN5	ZN174_HUMAN;.;.	C	114	ENSP00000339781:S114C;ENSP00000268655:S114C	ENSP00000268655:S114C	S	+	1	0	ZNF174	3392345	0.590000	0.26815	0.727000	0.30756	0.575000	0.36095	0.191000	0.17076	0.133000	0.18654	0.533000	0.62120	AGC		0.537	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		20	73	0	0	0	1	0	20	73				
FBN2	2201	broad.mit.edu	37	5	127692978	127692978	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:127692978C>G	ENST00000508053.1	-	26	3638	c.2664G>C	c.(2662-2664)ttG>ttC	p.L888F	FBN2_ENST00000508989.1_Missense_Mutation_p.L855F|FBN2_ENST00000262464.4_Missense_Mutation_p.L888F			P35556	FBN2_HUMAN	fibrillin 2	888	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAATACAGATCAATCCTGTGG	0.423																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(2662-2664)ttG>ttC		fibrillin 2							85.0	82.0	83.0					5																	127692978		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127692978C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2664G>C	5.37:g.127692978C>G	ENSP00000424571:p.Leu888Phe					FBN2_ENST00000262464.4_Missense_Mutation_p.L888F|FBN2_ENST00000508989.1_Missense_Mutation_p.L855F	p.L888F			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	26	3638	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	888			EGF-like 13; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.2664G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	3.733	-0.055197	0.07362	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.87650	-2.28;-2.28;-2.28	5.23	2.43	0.29744	Matrix fibril-associated (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.47455	D	0.000228	T	0.70090	0.3184	N	0.04705	-0.18	0.45015	D	0.998033	B;B	0.20261	0.043;0.0	B;B	0.19666	0.026;0.002	T	0.60234	-0.7303	10	0.10111	T	0.7	.	11.6995	0.51562	0.0:0.465:0.4658:0.0692	.	855;888	D6RJI3;P35556	.;FBN2_HUMAN	F	888;888;855	ENSP00000262464:L888F;ENSP00000424571:L888F;ENSP00000425596:L855F	ENSP00000262464:L888F	L	-	3	2	FBN2	127720877	0.011000	0.17503	0.990000	0.47175	0.737000	0.42083	-0.095000	0.11077	0.863000	0.35553	0.655000	0.94253	TTG		0.423	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		5	20	0	0	0	1	0	5	20				
UBA6	55236	broad.mit.edu	37	4	68500167	68500167	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:68500167T>C	ENST00000322244.5	-	21	1971	c.1912A>G	c.(1912-1914)Ata>Gta	p.I638V		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	638					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GCCCACTGTATGGTATGTTCA	0.323																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1912-1914)Ata>Gta		ubiquitin-like modifier activating enzyme 6							63.0	71.0	68.0					4																	68500167		2201	4298	6499	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68500167T>C	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1912A>G	4.37:g.68500167T>C	ENSP00000313454:p.Ile638Val						p.I638V	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			21	1971	-			638					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.1912A>G	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632929	0.67015	.	.	ENSG00000033178	ENST00000322244	T	0.47528	0.84	5.79	5.79	0.91817	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	L	0.61218	1.895	0.80722	D	1	P	0.47191	0.891	P	0.49276	0.605	T	0.57745	-0.7758	10	0.48119	T	0.1	-12.3377	16.1113	0.81266	0.0:0.0:0.0:1.0	.	638	A0AVT1	UBA6_HUMAN	V	638	ENSP00000313454:I638V	ENSP00000313454:I638V	I	-	1	0	UBA6	68182762	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.698000	0.84413	2.213000	0.71641	0.482000	0.46254	ATA		0.323	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		7	34	0	0	0	1	0	7	34				
IMPG1	3617	broad.mit.edu	37	6	76633398	76633398	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:76633398C>T	ENST00000369950.3	-	16	2458	c.2269G>A	c.(2269-2271)Gca>Aca	p.A757T	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GTTTTGTATGCTTGATTTTCA	0.303																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2269-2271)Gca>Aca		interphotoreceptor matrix proteoglycan 1							128.0	115.0	120.0					6																	76633398		2202	4299	6501	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76633398C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2269G>A	6.37:g.76633398C>T	ENSP00000358966:p.Ala757Thr					IMPG1_ENST00000369963.3_3'UTR	p.A757T	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			16	2458	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	757						Missense_Mutation	SNP	ENST00000369950.3	37	c.2269G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	6.114	0.389287	0.11581	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.20332	2.08;2.17	4.02	1.17	0.20885	.	0.780500	0.10793	N	0.633536	T	0.03564	0.0102	L	0.34521	1.04	0.09310	N	1	B	0.33694	0.421	B	0.27500	0.08	T	0.40794	-0.9544	10	0.20519	T	0.43	.	3.6305	0.08130	0.0:0.5541:0.2121:0.2338	.	757	Q17R60	IMPG1_HUMAN	T	757;118	ENSP00000358966:A757T;ENSP00000358968:A118T	ENSP00000358966:A757T	A	-	1	0	IMPG1	76690118	0.459000	0.25768	0.008000	0.14137	0.141000	0.21300	0.659000	0.24994	0.434000	0.26340	-0.182000	0.12963	GCA		0.303	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		3	9	0	0	0	1	0	3	9				
PCDHAC1	56135	broad.mit.edu	37	5	140308636	140308636	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:140308636G>A	ENST00000253807.2	+	1	2159	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R720H|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	720					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCTGTCGCTCTACAGAG	0.468																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(2158-2160)cGc>cAc									103.0	101.0	101.0					5																	140308636		2203	4300	6503	SO:0001583	missense	56135							g.chr5:140308636G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2159G>A	5.37:g.140308636G>A	ENSP00000253807:p.Arg720His					PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R720H|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	p.R720H	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2159	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.2159G>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	3.114	-0.182006	0.06340	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.20332	2.08;2.08	5.95	-4.09	0.03951	.	.	.	.	.	T	0.12987	0.0315	L	0.38175	1.15	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.06405	0.002;0.0	T	0.27123	-1.0083	9	0.31617	T	0.26	.	5.9204	0.19078	0.3955:0.0:0.4073:0.1973	.	720;720	Q9H158;Q9H158-2	PCDC1_HUMAN;.	H	720	ENSP00000386356:R720H;ENSP00000253807:R720H	ENSP00000253807:R720H	R	+	2	0	PCDHAC1	140288820	0.000000	0.05858	0.019000	0.16419	0.069000	0.16628	-0.563000	0.05943	-1.315000	0.02297	-0.471000	0.05019	CGC		0.468	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		20	72	0	0	0	1	0	20	72				
DENND3	22898	broad.mit.edu	37	8	142151312	142151312	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:142151312G>T	ENST00000262585.2	+	4	550	c.272G>T	c.(271-273)tGt>tTt	p.C91F	DENND3_ENST00000518347.1_Missense_Mutation_p.C171F|DENND3_ENST00000424248.1_Missense_Mutation_p.C91F|DENND3_ENST00000519811.1_Missense_Mutation_p.C171F	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	91					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GATGAGTACTGTTTCTACAAT	0.527																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(511-513)tGt>tTt		DENN/MADD domain containing 3							166.0	123.0	138.0					8																	142151312		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142151312G>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.272G>T	8.37:g.142151312G>T	ENSP00000262585:p.Cys91Phe					DENND3_ENST00000518347.1_Missense_Mutation_p.C171F|DENND3_ENST00000424248.1_Missense_Mutation_p.C91F|DENND3_ENST00000262585.2_Missense_Mutation_p.C91F	p.C171F			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		4	582	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		91			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.512G>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.547913	0.00926	.	.	ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523058;ENST00000518249	T;T;T;T	0.44083	2.94;2.54;2.93;0.93	5.14	5.14	0.70334	.	0.518673	0.22068	N	0.065077	T	0.36524	0.0970	L	0.57536	1.79	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.16541	-1.0399	10	0.18710	T	0.47	-1.6817	10.2899	0.43590	0.0:0.1265:0.6645:0.2089	.	171;91;171	E9PF32;A2RUS2;E5RIR7	.;DEND3_HUMAN;.	F	104;171;91;91;171;171;4	ENSP00000262585:C91F;ENSP00000410594:C91F;ENSP00000428714:C171F;ENSP00000430786:C171F	ENSP00000262585:C91F	C	+	2	0	DENND3	142220494	0.374000	0.25081	0.469000	0.27204	0.212000	0.24457	2.439000	0.44846	2.378000	0.81104	0.655000	0.94253	TGT		0.527	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		9	130	1	0	0.00621372	1	0.00642798	9	130				
DMD	1756	broad.mit.edu	37	X	31697647	31697647	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chrX:31697647G>T	ENST00000357033.4	-	53	7923	c.7717C>A	c.(7717-7719)Caa>Aaa	p.Q2573K	DMD_ENST00000541735.1_Missense_Mutation_p.Q113K|DMD_ENST00000343523.2_Missense_Mutation_p.Q113K|DMD_ENST00000474231.1_Missense_Mutation_p.Q113K|DMD_ENST00000378677.2_Missense_Mutation_p.Q2569K|DMD_ENST00000378707.3_Missense_Mutation_p.Q113K|DMD_ENST00000359836.1_Missense_Mutation_p.Q113K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2573					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCAACTGTTGCCTCCGGTTC	0.398																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(7717-7719)Caa>Aaa		dystrophin							179.0	146.0	157.0					X																	31697647		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31697647G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7717C>A	X.37:g.31697647G>T	ENSP00000354923:p.Gln2573Lys					DMD_ENST00000541735.1_Missense_Mutation_p.Q113K|DMD_ENST00000359836.1_Missense_Mutation_p.Q113K|DMD_ENST00000343523.2_Missense_Mutation_p.Q113K|DMD_ENST00000474231.1_Missense_Mutation_p.Q113K|DMD_ENST00000378677.2_Missense_Mutation_p.Q2569K|DMD_ENST00000378707.3_Missense_Mutation_p.Q113K	p.Q2573K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			53	7923	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2573					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7717C>A	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.948|8.948	0.967372|0.967372	0.18659|0.18659	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.51071	.|0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.89|5.89	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.36268	.|U	.|0.002697	T|T	0.46386|0.46386	0.1390|0.1390	L|L	0.31752|0.31752	0.955|0.955	0.34979|0.34979	D|D	0.753914|0.753914	.|P;B;B;B;B;B;B;B;B;B	.|0.43938	.|0.822;0.022;0.011;0.003;0.003;0.004;0.005;0.02;0.028;0.023	.|P;B;B;B;B;B;B;B;B;B	.|0.50896	.|0.653;0.033;0.023;0.005;0.005;0.012;0.034;0.023;0.009;0.006	T|T	0.50684|0.50684	-0.8799|-0.8799	5|10	.|0.13108	.|T	.|0.6	.|.	15.9479|15.9479	0.79806|0.79806	0.0:0.1316:0.8684:0.0|0.0:0.1316:0.8684:0.0	.|.	.|2565;2573;2569;1232;1229;113;113;113;113;113	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.	E|K	301|2565;1232;1229;269;2569;2573;113;113;2573;2450;113;113;113	.|ENSP00000350765:Q269K;ENSP00000367948:Q2569K;ENSP00000354923:Q2573K;ENSP00000352894:Q113K;ENSP00000340057:Q113K;ENSP00000367979:Q113K;ENSP00000444119:Q113K;ENSP00000417123:Q113K	.|ENSP00000340057:Q113K	A|Q	-|-	2|1	0|0	DMD|DMD	31607568|31607568	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	5.957000|5.957000	0.70323|0.70323	1.197000|1.197000	0.43143|0.43143	0.544000|0.544000	0.68410|0.68410	GCA|CAA		0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		4	11	1	0	0.000602214	1	0.000632325	4	11				
HEATR1	55127	broad.mit.edu	37	1	236746421	236746421	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:236746421C>G	ENST00000366582.3	-	18	2431	c.2317G>C	c.(2317-2319)Gaa>Caa	p.E773Q	HEATR1_ENST00000366581.2_Missense_Mutation_p.E773Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	773					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTGAGCTCTTCTACATAATGT	0.418																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2317-2319)Gaa>Caa		HEAT repeat containing 1							172.0	163.0	166.0					1																	236746421		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236746421C>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2317G>C	1.37:g.236746421C>G	ENSP00000355541:p.Glu773Gln					HEATR1_ENST00000366581.2_Missense_Mutation_p.E773Q	p.E773Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		18	2431	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	773					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2317G>C	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	7.548	0.662081	0.14645	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.04758	3.56;3.58	5.56	1.35	0.21983	Armadillo-type fold (1);	0.712591	0.14446	N	0.319077	T	0.03220	0.0094	N	0.12746	0.255	0.31597	N	0.653124	B;B	0.11235	0.001;0.004	B;B	0.08055	0.001;0.003	T	0.31081	-0.9956	10	0.25106	T	0.35	.	12.4587	0.55718	0.0:0.4194:0.5139:0.0667	.	773;773	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	Q	773	ENSP00000355541:E773Q;ENSP00000355540:E773Q	ENSP00000355540:E773Q	E	-	1	0	HEATR1	234813044	0.082000	0.21442	0.264000	0.24511	0.301000	0.27625	0.238000	0.18004	-0.016000	0.14127	0.655000	0.94253	GAA		0.418	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		16	170	0	0	0	1	0	16	170				
IP6K3	117283	broad.mit.edu	37	6	33690670	33690670	+	Missense_Mutation	SNP	C	C	T	rs369669636		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:33690670C>T	ENST00000293756.4	-	6	1386	c.1060G>A	c.(1060-1062)Ggt>Agt	p.G354S	IP6K3_ENST00000451316.1_Missense_Mutation_p.G354S	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	354					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GGAGAGCTACCGTGGGCTGCC	0.562																																						ENST00000451316.1																			0				skin(1)	1						c.(1060-1062)Ggt>Agt		inositol hexakisphosphate kinase 3		C	SER/GLY,SER/GLY	0,4406		0,0,2203	100.0	96.0	98.0		1060,1060	-1.2	0.0	6		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IP6K3	NM_054111.4,NM_001142883.1	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	354/411,354/411	33690670	1,13005	2203	4300	6503	SO:0001583	missense	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33690670C>T	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.1060G>A	6.37:g.33690670C>T	ENSP00000293756:p.Gly354Ser					IP6K3_ENST00000293756.4_Missense_Mutation_p.G354S	p.G354S	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN			7	1595	-			354					Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	c.1060G>A	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.735725	0.00681	0.0	1.16E-4	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.15718	2.4;2.4	4.84	-1.24	0.09435	.	0.718612	0.12237	N	0.486857	T	0.01661	0.0053	N	0.13043	0.29	0.20638	N	0.999877	B	0.26081	0.141	B	0.17979	0.02	T	0.46414	-0.9193	10	0.09084	T	0.74	-13.5633	4.3948	0.11358	0.2899:0.3122:0.0:0.3979	.	354	Q96PC2	IP6K3_HUMAN	S	354	ENSP00000398861:G354S;ENSP00000293756:G354S	ENSP00000293756:G354S	G	-	1	0	IP6K3	33798648	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.459000	0.06728	-0.124000	0.11724	-1.074000	0.02243	GGT		0.562	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		54	60	0	0	0	1	0	54	60				
FGFRL1	53834	broad.mit.edu	37	4	1018192	1018192	+	Missense_Mutation	SNP	G	G	A	rs370772573		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:1018192G>A	ENST00000398484.2	+	7	1392	c.812G>A	c.(811-813)cGc>cAc	p.R271H	FGFRL1_ENST00000264748.6_Missense_Mutation_p.R271H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R271H|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R271H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	271	Ig-like C2-type 3.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCAAGGTGCGCAGCGACGTG	0.662																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(811-813)cGc>cAc		fibroblast growth factor receptor-like 1			HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	61.0	58.0	59.0		812,812,812	5.3	1.0	4		59	2,8594	2.2+/-6.3	0,2,4296	no	missense,missense,missense	FGFRL1	NM_001004356.2,NM_001004358.1,NM_021923.3	29,29,29	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	271/505,271/505,271/505	1018192	2,13000	2203	4298	6501	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018192G>A		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.812G>A	4.37:g.1018192G>A	ENSP00000381498:p.Arg271His					FGFRL1_ENST00000510644.1_Missense_Mutation_p.R271H|FGFRL1_ENST00000264748.6_Missense_Mutation_p.R271H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R271H	p.R271H			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1392	+			271			Ig-like C2-type 3.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.812G>A	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	g	28.5	4.922990	0.92319	0.0	2.33E-4	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	L	0.31845	0.965	0.80722	D	1	P	0.52170	0.951	P	0.58130	0.833	T	0.67373	-0.5687	10	0.30078	T	0.28	-39.4704	17.8682	0.88803	0.0:0.0:1.0:0.0	.	271	Q8N441	FGRL1_HUMAN	H	271;241;271;271;271	ENSP00000381498:R271H;ENSP00000425025:R271H;ENSP00000423091:R271H;ENSP00000264748:R271H	ENSP00000264748:R271H	R	+	2	0	FGFRL1	1008192	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.271000	0.65553	2.466000	0.83321	0.574000	0.79327	CGC		0.662	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		4	113	0	0	0	1	0	4	113				
DENND3	22898	broad.mit.edu	37	8	142151311	142151311	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:142151311T>C	ENST00000262585.2	+	4	549	c.271T>C	c.(271-273)Tgt>Cgt	p.C91R	DENND3_ENST00000518347.1_Missense_Mutation_p.C171R|DENND3_ENST00000424248.1_Missense_Mutation_p.C91R|DENND3_ENST00000519811.1_Missense_Mutation_p.C171R	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	91					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATGAGTACTGTTTCTACAA	0.522																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(511-513)Tgt>Cgt		DENN/MADD domain containing 3							165.0	123.0	137.0					8																	142151311		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142151311T>C	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.271T>C	8.37:g.142151311T>C	ENSP00000262585:p.Cys91Arg					DENND3_ENST00000518347.1_Missense_Mutation_p.C171R|DENND3_ENST00000424248.1_Missense_Mutation_p.C91R|DENND3_ENST00000262585.2_Missense_Mutation_p.C91R	p.C171R			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		4	581	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		91			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.511T>C	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.924|1.924	-0.447545|-0.447545	0.04572|0.04572	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523058;ENST00000518249|ENST00000518668	T;T;T;T|.	0.42131|.	2.97;2.57;2.97;0.98|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.518673|.	0.22068|.	N|.	0.065077|.	T|T	0.46210|0.46210	0.1381|0.1381	L|L	0.57536|0.57536	1.79|1.79	0.22185|0.22185	N|N	0.999309|0.999309	B;B;P|.	0.37955|.	0.138;0.138;0.612|.	B;B;B|.	0.34722|.	0.045;0.027;0.188|.	T|T	0.40515|0.40515	-0.9559|-0.9559	10|5	0.17832|.	T|.	0.49|.	-1.6817|-1.6817	8.8213|8.8213	0.35027|0.35027	0.2917:0.0:0.0:0.7083|0.2917:0.0:0.0:0.7083	.|.	171;91;171|.	E9PF32;A2RUS2;E5RIR7|.	.;DEND3_HUMAN;.|.	R|P	104;171;91;91;171;171;4|147	ENSP00000262585:C91R;ENSP00000410594:C91R;ENSP00000428714:C171R;ENSP00000430786:C171R|.	ENSP00000262585:C91R|.	C|L	+|+	1|2	0|0	DENND3|DENND3	142220493|142220493	0.339000|0.339000	0.24784|0.24784	0.451000|0.451000	0.26982|0.26982	0.201000|0.201000	0.24016|0.24016	1.340000|1.340000	0.33896|0.33896	1.926000|1.926000	0.55796|0.55796	0.533000|0.533000	0.62120|0.62120	TGT|CTG		0.522	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		9	129	0	0	0	1	0	9	129				
KLHL1	57626	broad.mit.edu	37	13	70275855	70275855	+	Silent	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr13:70275855C>T	ENST00000377844.4	-	11	2985	c.2226G>A	c.(2224-2226)gtG>gtA	p.V742V	KLHL1_ENST00000545028.1_Silent_p.V549V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	742					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGATGACTACCACACAGGCAC	0.328																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(2224-2226)gtG>gtA		kelch-like family member 1							43.0	40.0	41.0					13																	70275855		2203	4299	6502	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70275855C>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.2226G>A	13.37:g.70275855C>T						KLHL1_ENST00000545028.1_Silent_p.V549V	p.V742V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	11	2985	-		Breast(118;0.000162)	742					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.2226G>A	CCDS9445.1																																																																																				0.328	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		4	13	0	0	0	1	0	4	13				
DNALI1	7802	broad.mit.edu	37	1	38023218	38023218	+	Silent	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:38023218A>G	ENST00000296218.7	+	2	172	c.162A>G	c.(160-162)aaA>aaG	p.K54K	DNALI1_ENST00000541606.1_5'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	32				S -> P (in Ref. 3; CAI46082). {ECO:0000305}.	cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTACTGAAAGTCAGCCCCC	0.572																																						ENST00000296218.7																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(160-162)aaA>aaG		dynein, axonemal, light intermediate chain 1							112.0	109.0	110.0					1																	38023218		2203	4300	6503	SO:0001819	synonymous_variant	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38023218A>G	AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"""Axonemal dyneins"""	14353	protein-coding gene	gene with protein product	"""inner dynein arm, homolog of clamydomonas"", ""dJ423B22.5 (axonemal dynein light chain (hp28))"""	602135	"""dynein, axonemal, light intermediate polypeptide 1"""			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.162A>G	1.37:g.38023218A>G						DNALI1_ENST00000541606.1_5'UTR	p.K54K	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN			2	172	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	32	S -> P (in Ref. 3; CAI46082).				A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Silent	SNP	ENST00000296218.7	37	c.162A>G	CCDS420.1																																																																																				0.572	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462		22	215	0	0	0	1	0	22	215				
CTSA	5476	broad.mit.edu	37	20	44520385	44520385	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr20:44520385A>G	ENST00000372459.2	+	1	371	c.178A>G	c.(178-180)Aag>Gag	p.K60E	RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000372484.3_Missense_Mutation_p.K78E|NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000354880.5_Missense_Mutation_p.K78E|CTSA_ENST00000191018.5_Missense_Mutation_p.K60E			P10619	PPGB_HUMAN	cathepsin A	60					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTCCGGCTCCAAGCACCTCCA	0.652																																						ENST00000372484.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(232-234)Aag>Gag		cathepsin A							71.0	79.0	77.0					20																	44520385		2203	4300	6503	SO:0001583	missense	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44520385A>G	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.178A>G	20.37:g.44520385A>G	ENSP00000361537:p.Lys60Glu					CTSA_ENST00000372459.2_Missense_Mutation_p.K60E|CTSA_ENST00000354880.5_Missense_Mutation_p.K78E|CTSA_ENST00000191018.5_Missense_Mutation_p.K60E	p.K78E	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN			2	514	+		Myeloproliferative disorder(115;0.0122)	60					B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	ENST00000372459.2	37	c.232A>G	CCDS46609.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829017	0.90955	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493;ENST00000372459	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	5.42	4.32	0.51571	.	0.042146	0.85682	D	0.000000	D	0.90188	0.6933	M	0.77820	2.39	0.54753	D	0.99998	P;P;P	0.49862	0.929;0.853;0.853	P;P;P	0.55222	0.771;0.689;0.689	D	0.89346	0.3657	10	0.72032	D	0.01	-4.8257	7.8495	0.29446	0.7885:0.1375:0.074:0.0	.	77;60;77	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	E	78;78;60;60;60	ENSP00000346952:K78E;ENSP00000361562:K78E;ENSP00000191018:K60E;ENSP00000408533:K60E;ENSP00000361537:K60E	ENSP00000191018:K60E	K	+	1	0	CTSA	43953792	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	5.009000	0.63998	0.878000	0.35920	0.459000	0.35465	AAG		0.652	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		19	186	0	0	0	1	0	19	186				
TDP1	55775	broad.mit.edu	37	14	90450869	90450869	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:90450869G>A	ENST00000335725.4	+	9	1144	c.894G>A	c.(892-894)ttG>ttA	p.L298L	TDP1_ENST00000393454.2_Silent_p.L298L|TDP1_ENST00000393452.3_Silent_p.L298L|TDP1_ENST00000555880.1_Silent_p.L298L|TDP1_ENST00000357382.3_Silent_p.L59L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	298					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GAATATGGTTGAGCCCCTTAT	0.388								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(892-894)ttG>ttA	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							151.0	147.0	148.0					14																	90450869		2203	4300	6503	SO:0001819	synonymous_variant	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90450869G>A	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.894G>A	14.37:g.90450869G>A						TDP1_ENST00000393452.3_Silent_p.L298L|TDP1_ENST00000357382.3_Silent_p.L59L|TDP1_ENST00000555880.1_Silent_p.L298L|TDP1_ENST00000393454.2_Silent_p.L298L	p.L298L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	9	1144	+		all_cancers(154;0.185)	298					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	37	c.894G>A	CCDS9888.1																																																																																				0.388	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		16	139	0	0	0	1	0	16	139				
ADD3	120	broad.mit.edu	37	10	111893128	111893128	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:111893128C>T	ENST00000356080.4	+	15	2240	c.1873C>T	c.(1873-1875)Cct>Tct	p.P625S	ADD3_ENST00000360162.3_Missense_Mutation_p.P593S|ADD3_ENST00000277900.8_Missense_Mutation_p.P593S	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	625						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CATGGAAGTGCCTGTCATGGT	0.403																																						ENST00000277900.8																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(1777-1779)Cct>Tct		adducin 3 (gamma)							147.0	138.0	141.0					10																	111893128		2203	4300	6503	SO:0001583	missense	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111893128C>T	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1873C>T	10.37:g.111893128C>T	ENSP00000348381:p.Pro625Ser					ADD3_ENST00000356080.4_Missense_Mutation_p.P625S|ADD3_ENST00000360162.3_Missense_Mutation_p.P593S	p.P593S	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	14	2142	+		Breast(234;0.052)|Lung NSC(174;0.223)	625					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	ENST00000356080.4	37	c.1777C>T	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072946	0.76415	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.44881	0.91;0.91;0.91	5.71	4.81	0.61882	.	0.239229	0.42548	D	0.000695	T	0.45236	0.1332	L	0.34521	1.04	0.80722	D	1	D;B	0.58620	0.983;0.068	P;B	0.53102	0.718;0.025	T	0.40553	-0.9557	10	0.46703	T	0.11	-13.7092	14.878	0.70510	0.0:0.9312:0.0:0.0688	.	625;593	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	S	593;625;593	ENSP00000353286:P593S;ENSP00000348381:P625S;ENSP00000277900:P593S	ENSP00000277900:P593S	P	+	1	0	ADD3	111883118	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	5.634000	0.67833	1.564000	0.49628	0.650000	0.86243	CCT		0.403	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		12	133	0	0	0	1	0	12	133				
ZNF619	285267	broad.mit.edu	37	3	40529725	40529725	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:40529725C>T	ENST00000314686.5	+	6	2081	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.S615F|ZNF619_ENST00000522736.1_Missense_Mutation_p.S566F|ZNF619_ENST00000432264.2_Missense_Mutation_p.S575F|ZNF619_ENST00000429348.2_Missense_Mutation_p.S575F|ZNF619_ENST00000447116.2_Missense_Mutation_p.S615F|ZNF619_ENST00000456778.1_Missense_Mutation_p.S531F			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTGTCTCACTCCCTGTAAGCC	0.468																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1843-1845)tCc>tTc		zinc finger protein 619							75.0	79.0	78.0					3																	40529725		2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529725C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1676C>T	3.37:g.40529725C>T	ENSP00000322529:p.Ser559Phe					ZNF619_ENST00000314686.5_Missense_Mutation_p.S559F|ZNF619_ENST00000521353.1_Missense_Mutation_p.S615F|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Missense_Mutation_p.S575F|ZNF619_ENST00000456778.1_Missense_Mutation_p.S531F|ZNF619_ENST00000522736.1_Missense_Mutation_p.S566F|ZNF619_ENST00000429348.2_Missense_Mutation_p.S575F	p.S615F	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	2151	+			615					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.1844C>T		.	.	.	.	.	.	.	.	.	.	C	15.13	2.743228	0.49151	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000442066;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.08008	3.14;3.34;3.51;3.28;3.14;3.34;3.51	1.77	1.77	0.24775	.	.	.	.	.	T	0.11922	0.0290	N	0.24115	0.695	0.09310	N	1	D;D;D;D;D;D	0.59357	0.985;0.985;0.985;0.985;0.985;0.985	P;P;P;P;P;P	0.60012	0.795;0.795;0.795;0.867;0.795;0.795	T	0.17745	-1.0359	9	0.87932	D	0	.	7.0306	0.24965	0.0:1.0:0.0:0.0	.	531;575;615;517;566;559	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	F	559;615;575;531;196;566;615;575	ENSP00000322529:S559F;ENSP00000411132:S615F;ENSP00000398024:S575F;ENSP00000397232:S531F;ENSP00000428004:S566F;ENSP00000430705:S615F;ENSP00000388710:S575F	ENSP00000322529:S559F	S	+	2	0	ZNF619	40504729	0.000000	0.05858	0.011000	0.14972	0.085000	0.17905	-0.208000	0.09371	1.285000	0.44548	0.557000	0.71058	TCC		0.468	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		19	51	0	0	0	1	0	19	51				
TSHR	7253	broad.mit.edu	37	14	81610369	81610369	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:81610369T>C	ENST00000541158.2	+	11	2289	c.1967T>C	c.(1966-1968)gTt>gCt	p.V656A	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.V656A			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	656			V -> F (in TTNs). {ECO:0000269|PubMed:11434721}.		adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTCATCACTGTTAGCAACTCC	0.463			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1966-1968)gTt>gCt		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						175.0	172.0	173.0					14																	81610369		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610369T>C	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1967T>C	14.37:g.81610369T>C	ENSP00000441235:p.Val656Ala					TSHR_ENST00000298171.2_Missense_Mutation_p.V656A|RP11-114N19.3_ENST00000557775.1_RNA	p.V656A			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	2289	+			656		V -> F (in TTNs).			A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1967T>C	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.505477	0.64410	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.95171	-3.63;-3.63	5.05	5.05	0.67936	.	0.057060	0.64402	D	0.000001	D	0.97318	0.9123	M	0.93328	3.405	0.80722	D	1	D	0.57899	0.981	P	0.56648	0.803	D	0.98270	1.0503	10	0.87932	D	0	.	14.8175	0.70045	0.0:0.0:0.0:1.0	.	656	F5GYU5	.	A	656;303;656	ENSP00000441235:V656A;ENSP00000298171:V656A	ENSP00000298171:V656A	V	+	2	0	TSHR	80680122	1.000000	0.71417	0.653000	0.29593	0.658000	0.38924	8.040000	0.89188	1.906000	0.55180	0.459000	0.35465	GTT		0.463	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		50	134	0	0	0	1	0	50	134				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	40	0	0	0	1	0	3	40				
TDRD6	221400	broad.mit.edu	37	6	46657035	46657035	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:46657035G>A	ENST00000316081.6	+	1	1170	c.1170G>A	c.(1168-1170)cgG>cgA	p.R390R	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Silent_p.R390R	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	390					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTGGTCTCGGTCACAGGTCG	0.498																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1168-1170)cgG>cgA		tudor domain containing 6							112.0	98.0	102.0					6																	46657035		2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657035G>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1170G>A	6.37:g.46657035G>A						TDRD6_ENST00000316081.6_Silent_p.R390R	p.R390R	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1424	+			390					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.1170G>A	CCDS34470.1																																																																																				0.498	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		40	78	0	0	0	1	0	40	78				
GRAMD2	196996	broad.mit.edu	37	15	72455669	72455669	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:72455669C>A	ENST00000309731.7	-	10	907	c.894G>T	c.(892-894)gaG>gaT	p.E298D	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	298						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TGCTCCTGGGCTCCTCCTCCA	0.592																																						ENST00000309731.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(892-894)gaG>gaT		GRAM domain containing 2							76.0	77.0	77.0					15																	72455669		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72455669C>A	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.894G>T	15.37:g.72455669C>A	ENSP00000311657:p.Glu298Asp					GRAMD2_ENST00000564184.1_5'UTR	p.E298D	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN			10	907	-			298					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.894G>T	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497982	0.26861	.	.	ENSG00000175318	ENST00000309731	T	0.39787	1.06	5.46	3.33	0.38152	.	0.866183	0.10099	N	0.716155	T	0.31104	0.0786	L	0.55481	1.735	0.09310	N	1	P	0.47106	0.89	B	0.35182	0.197	T	0.09422	-1.0675	10	0.16896	T	0.51	.	7.7009	0.28621	0.0:0.7488:0.0:0.2512	.	298	Q8IUY3	GRAM2_HUMAN	D	298	ENSP00000311657:E298D	ENSP00000311657:E298D	E	-	3	2	GRAMD2	70242723	0.000000	0.05858	0.024000	0.17045	0.061000	0.15899	-0.211000	0.09332	1.297000	0.44761	0.655000	0.94253	GAG		0.592	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		6	71	1	0	2.0095e-06	1	2.24465e-06	6	71				
GORAB	92344	broad.mit.edu	37	1	170501106	170501107	+	5'Flank	DEL	GA	GA	-			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:170501106_170501107delGA	ENST00000367763.3	+	0	0				GORAB_ENST00000367762.1_5'Flank|RP11-576I22.2_ENST00000421020.1_RNA|RP11-576I22.2_ENST00000456083.1_RNA	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting							cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GAGAAACAATGAGAGAGAGAGA	0.505																																						ENST00000421020.1																			0																																																	SO:0001631	upstream_gene_variant	101928650							g.chr1:170501106_170501107delGA	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228		1.37:g.170501116_170501117delGA	Exception_encountered					RP11-576I22.2_ENST00000456083.1_RNA								0	34_35	-								Q49A22|Q6P1P9|Q9HAE6|Q9Y350	RNA	DEL	ENST00000367763.3	37		CCDS1289.1																																																																																				0.505	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		2	4						2	4	---	---	---	---
DNAJB2	3300	broad.mit.edu	37	2	220146750	220146750	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:220146750delT	ENST00000336576.5	+	5	607	c.319delT	c.(319-321)tttfs	p.F107fs	DNAJB2_ENST00000463463.1_3'UTR|DNAJB2_ENST00000392086.4_Frame_Shift_Del_p.F107fs	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	107					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGGAATTCTTTGGGAGTGG	0.592																																						ENST00000336576.5																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(319-321)ttfs		DnaJ (Hsp40) homolog, subfamily B, member 2							68.0	72.0	70.0					2																	220146750		2203	4300	6503	SO:0001589	frameshift_variant	3300				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	g.chr2:220146750delT		CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.319delT	2.37:g.220146750delT	ENSP00000338019:p.Phe107fs					DNAJB2_ENST00000392086.4_Frame_Shift_Del_p.F107fs|DNAJB2_ENST00000463463.1_3'UTR	p.F107fs	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	607	+		Renal(207;0.0474)	107					A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Frame_Shift_Del	DEL	ENST00000336576.5	37	c.319delT	CCDS2439.1																																																																																				0.592	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			15	64						15	64	---	---	---	---
MTERF4	130916	broad.mit.edu	37	2	242035790	242035790	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:242035790delA	ENST00000391980.2	-	4	827	c.769delT	c.(769-771)tcafs	p.S257fs	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Frame_Shift_Del_p.S69fs	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		257					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TTGGTTAGTGAATACTGCAAG	0.458																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(769-771)cafs		MTERF domain containing 2							132.0	131.0	132.0					2																	242035790		2203	4300	6503	SO:0001589	frameshift_variant	130916							g.chr2:242035790delA																												ENST00000391980.2:c.769delT	2.37:g.242035790delA	ENSP00000375840:p.Ser257fs					MTERFD2_ENST00000406593.1_Frame_Shift_Del_p.S69fs|MTERFD2_ENST00000495694.1_Intron	p.S257fs	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	4	827	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	257					A8K6K0|Q9P0E0	Frame_Shift_Del	DEL	ENST00000391980.2	37	c.769delT	CCDS2544.1																																																																																				0.458	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			19	103						19	103	---	---	---	---
NKIRAS1	28512	broad.mit.edu	37	3	23934814	23934815	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:23934814_23934815insA	ENST00000443659.2	-	4	1127_1128	c.350_351insT	c.(349-351)gtafs	p.V117fs	NKIRAS1_ENST00000425478.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000416026.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000415901.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000412028.1_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000388759.3_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000421515.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000437230.1_Frame_Shift_Ins_p.V117fs			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	117					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						TGTTTCCTAATACCACAATTGC	0.431																																						ENST00000443659.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						c.(349-351)gttfs		NFKB inhibitor interacting Ras-like 1																																				SO:0001589	frameshift_variant	28512				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr3:23934814_23934815insA	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.351dupT	3.37:g.23934815_23934815dupA	ENSP00000393785:p.Val117fs					NKIRAS1_ENST00000416026.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000425478.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000415901.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000388759.3_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000421515.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000412028.1_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000437230.1_Frame_Shift_Ins_p.V117fs	p.V117fs			Q9NYS0	KBRS1_HUMAN			4	1127_1128	-			117					Q96K18	Frame_Shift_Ins	INS	ENST00000443659.2	37	c.350_351insT	CCDS33717.1																																																																																				0.431	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345		24	61						24	61	---	---	---	---
HGD	3081	broad.mit.edu	37	3	120365841	120365841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:120365841delG	ENST00000283871.5	-	8	987	c.528delC	c.(526-528)cccfs	p.P176fs		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	176					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGATCTCATTGGGCTGTACAA	0.473																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(526-528)ccfs		homogentisate 1,2-dioxygenase							190.0	165.0	174.0					3																	120365841		2203	4296	6499	SO:0001589	frameshift_variant	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120365841delG		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.528delC	3.37:g.120365841delG	ENSP00000283871:p.Pro176fs						p.P176fs	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	8	987	-			176					A8K417|B2R8Z0	Frame_Shift_Del	DEL	ENST00000283871.5	37	c.528delC	CCDS3000.1																																																																																				0.473	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			10	131						10	131	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187557272	187557273	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:187557272_187557273insA	ENST00000441802.2	-	6	4298_4299	c.4089_4090insT	c.(4087-4092)tttaccfs	p.T1364fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1364	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACAGTAAAGGTAAAAAATGATT	0.46										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(4087-4092)ttccttfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187557272_187557273insA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4090dupT	4.37:g.187557278_187557278dupA	ENSP00000406229:p.Thr1364fs	HNSCC(5;0.00058)					p.L1364fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			6	4298_4299	-			1364			Cadherin 12.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.4089_4090insT	CCDS47177.1																																																																																				0.460	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		10	35						10	35	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32521065	32521065	+	RNA	DEL	C	C	-			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:32521065delC	ENST00000411500.1	-	0	875					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		CAAAGTCTTTCCTATTATTTC	0.428																																						ENST00000411500.1																			0																																																			3128							g.chr6:32521065delC	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521065delC								NR_001298.1						0	875	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.428	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		3	4						3	4	---	---	---	---
SNTG1	54212	broad.mit.edu	37	8	51571223	51571224	+	Splice_Site	INS	-	-	GTAT			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:51571223_51571224insGTAT	ENST00000522124.1	+	15	1699	c.1038_1038insGTAT	c.(1039-1041)gac>gaGTATc	p.D347fs	SNTG1_ENST00000518864.1_Splice_Site_p.D347fs|SNTG1_ENST00000517473.1_Splice_Site_p.D347fs|SNTG1_ENST00000276467.5_Splice_Site_p.D347fs	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	347	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGATCCTCAAGGTATGATCAAT	0.371																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.e15+1		syntrophin, gamma 1																																				SO:0001630	splice_region_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51571223_51571224insGTAT	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1038+1->GTAT	8.37:g.51571224_51571227dupGTAT						SNTG1_ENST00000276467.5_Splice_Site_p.K346_splice|SNTG1_ENST00000518864.1_Splice_Site_p.K346_splice|SNTG1_ENST00000517473.1_Splice_Site_p.K346_splice	p.K346_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			15	1699	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	346			PH.		Q2M3Q0|Q9NY98	Splice_Site	INS	ENST00000522124.1	37	c.1038_splice	CCDS6147.1																																																																																				0.371	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		Frame_Shift_Ins	7	60						7	60	---	---	---	---
FAM178A	55719	broad.mit.edu	37	10	102697158	102697159	+	Splice_Site	INS	-	-	AT			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:102697158_102697159insAT	ENST00000238961.4	+	10	2978_2979		c.e10-1		FAM178A_ENST00000370269.3_Splice_Site	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A							chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GCTTTTGACAGATGATGTCAGT	0.322																																						ENST00000238961.3																			0											c.e10-1		family with sequence similarity 178, member A																																				SO:0001630	splice_region_variant	55719							g.chr10:102697158_102697159insAT	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2437-1->AT	10.37:g.102697159_102697160dupAT						FAM178A_ENST00000370269.3_Splice_Site		NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			10	2584_2585	+								A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Splice_Site	INS	ENST00000238961.4	37		CCDS7500.1																																																																																				0.322	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3		Intron	9	75						9	75	---	---	---	---
PICALM	8301	broad.mit.edu	37	11	85692227	85692227	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:85692227delC	ENST00000393346.3	-	17	1872	c.1724delG	c.(1723-1725)ggafs	p.G575fs	PICALM_ENST00000532317.1_Frame_Shift_Del_p.G525fs|PICALM_ENST00000356360.5_Frame_Shift_Del_p.G575fs|PICALM_ENST00000526033.1_Frame_Shift_Del_p.G568fs|PICALM_ENST00000528398.1_Frame_Shift_Del_p.G474fs			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	575					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CCAGTTAGATCCCCCAGTTAA	0.358			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	ENST00000526033.1				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"""MLLT10, MLL"""		"""TALL, AML, """		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1702-1704)gafs		phosphatidylinositol binding clathrin assembly protein							155.0	146.0	149.0					11																	85692227		2203	4299	6502	SO:0001589	frameshift_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85692227delC	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1724delG	11.37:g.85692227delC	ENSP00000377015:p.Gly575fs					PICALM_ENST00000393346.3_Frame_Shift_Del_p.G575fs|PICALM_ENST00000356360.5_Frame_Shift_Del_p.G575fs|PICALM_ENST00000532317.1_Frame_Shift_Del_p.G525fs|PICALM_ENST00000528398.1_Frame_Shift_Del_p.G474fs	p.G568fs	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN			17	2019	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	575					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Frame_Shift_Del	DEL	ENST00000393346.3	37	c.1703delG	CCDS8272.1																																																																																				0.358	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		9	44						9	44	---	---	---	---
