#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
MUC16	94025	broad.mit.edu	37	19	9073638	9073638	+	Missense_Mutation	SNP	C	C	T	rs201713021	byFrequency	TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:9073638C>T	ENST00000397910.4	-	3	14011	c.13808G>A	c.(13807-13809)cGa>cAa	p.R4603Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4605	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)		p.R4603Q(3)|p.R236Q(2)		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						GTTCTCTTTTCGTCCAGCAGT	0.502													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20960	0.0		0.0	False		,,,				2504	0.0					ENST00000397910.4																			5	Substitution - Missense(5)	p.R4603Q(3)|p.R236Q(2)	lung(3)|ovary(2)	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.(13807-13809)cGa>cAa		mucin 16, cell surface associated		C	GLN/ARG	19,3967		1,17,1975	93.0	88.0	90.0		13808	-0.8	0.0	19		90	1,8343		0,1,4171	yes	missense	MUC16	NM_024690.2	43	1,18,6146	TT,TC,CC		0.012,0.4767,0.1622	benign	4603/14508	9073638	20,12310	1993	4172	6165	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073638C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13808G>A	19.37:g.9073638C>T	ENSP00000381008:p.Arg4603Gln						p.R4603Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	14011	-			4605			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13808G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.656	-0.280750	0.05642	0.004767	1.2E-4	ENSG00000181143	ENST00000397910	T	0.02812	4.15	1.63	-0.829	0.10796	.	.	.	.	.	T	0.01222	0.0040	N	0.02011	-0.69	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.44862	-0.9300	8	0.87932	D	0	.	3.5428	0.07818	0.3197:0.4572:0.0:0.2231	.	4603	B5ME49	.	Q	4603	ENSP00000381008:R4603Q	ENSP00000381008:R4603Q	R	-	2	0	MUC16	8934638	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.445000	0.02401	-0.818000	0.04329	-1.786000	0.00637	CGA		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	71	0	0	0	1	0	5	71				
CYP1A1	1543	broad.mit.edu	37	15	75013055	75013055	+	Silent	SNP	A	A	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr15:75013055A>T	ENST00000379727.3	-	7	1512	c.1314T>A	c.(1312-1314)gcT>gcA	p.A438A	CYP1A1_ENST00000395049.4_Silent_p.A409A|CYP1A1_ENST00000395048.2_Silent_p.A438A|CYP1A1_ENST00000567032.1_Silent_p.A438A			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	438					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CCTTGTCGATAGCACCATCAG	0.527									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1312-1314)gcT>gcA		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						146.0	141.0	143.0					15																	75013055		2197	4296	6493	SO:0001819	synonymous_variant	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75013055A>T	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1314T>A	15.37:g.75013055A>T						CYP1A1_ENST00000567032.1_Silent_p.A438A|CYP1A1_ENST00000395049.4_Silent_p.A409A|CYP1A1_ENST00000395048.2_Silent_p.A438A	p.A438A			P04798	CP1A1_HUMAN			7	1512	-			438					A4F3V9|A4F3W0|Q53G18	Silent	SNP	ENST00000379727.3	37	c.1314T>A	CCDS10268.1																																																																																				0.527	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		6	283	0	0	0	1	0	6	283				
F13A1	2162	broad.mit.edu	37	6	6224992	6224992	+	Silent	SNP	T	T	C			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr6:6224992T>C	ENST00000264870.3	-	7	1165	c.900A>G	c.(898-900)ctA>ctG	p.L300L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	300					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGTATTCCAATAGAATGTCAA	0.478																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(898-900)ctA>ctG		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						97.0	101.0	100.0					6																	6224992		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6224992T>C	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.900A>G	6.37:g.6224992T>C							p.L300L	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			7	1165	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	300					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.900A>G	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	T	7.516	0.655656	0.14580	.	.	ENSG00000124491	ENST00000445223	.	.	.	5.51	-8.9	0.00782	.	.	.	.	.	T	0.19805	0.0476	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47522	-0.9111	4	.	.	.	.	3.3433	0.07126	0.2278:0.3049:0.364:0.1033	.	.	.	.	C	17	.	.	Y	-	2	0	F13A1	6169991	0.000000	0.05858	0.310000	0.25168	0.707000	0.40811	-1.694000	0.01915	-0.829000	0.04268	-0.461000	0.05368	TAT		0.478	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		5	254	0	0	0	1	0	5	254				
FLT4	2324	broad.mit.edu	37	5	180053141	180053141	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr5:180053141G>A	ENST00000261937.6	-	9	1306	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	FLT4_ENST00000502649.1_Missense_Mutation_p.R410C|FLT4_ENST00000393347.3_Missense_Mutation_p.R410C|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	410	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGATGTTGCGCCTCAGGCCA	0.667																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1228-1230)Cgc>Tgc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						90.0	85.0	86.0					5																	180053141		2203	4299	6502	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180053141G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1228C>T	5.37:g.180053141G>A	ENSP00000261937:p.Arg410Cys					FLT4_ENST00000502649.1_Missense_Mutation_p.R410C|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.R410C	p.R410C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	9	1306	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	410			Ig-like C2-type 4.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.1228C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	2.798	-0.249756	0.05867	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.13196	2.61;2.61;2.61	4.5	0.343	0.16001	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.11965	0.0291	M	0.66939	2.045	0.09310	N	1	B;B;B	0.31351	0.32;0.077;0.077	B;B;B	0.27170	0.055;0.077;0.077	T	0.34329	-0.9833	9	0.59425	D	0.04	.	0.6293	0.00791	0.2316:0.2078:0.3413:0.2193	.	410;410;410	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	C	410;410;410;220	ENSP00000261937:R410C;ENSP00000377016:R410C;ENSP00000426057:R410C	ENSP00000261937:R410C	R	-	1	0	FLT4	179985747	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.173000	0.03108	-0.169000	0.10834	-1.073000	0.02249	CGC		0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			17	197	0	0	0	1	0	17	197				
CD69	969	broad.mit.edu	37	12	9913395	9913395	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr12:9913395C>T	ENST00000228434.3	-	1	102	c.22G>A	c.(22-24)Gta>Ata	p.V8I	CD69_ENST00000536709.1_Missense_Mutation_p.V8I	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	8					cellular response to drug (GO:0035690)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						TTCTCTGCTACGAAACAATTT	0.393													C|||	2	0.000399361	0.0	0.0029	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000228434.3																			0				endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(22-24)Gta>Ata		CD69 molecule							150.0	136.0	140.0					12																	9913395		2203	4300	6503	SO:0001583	missense	969					integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9913395C>T	Z22576	CCDS8604.1	12p13	2011-08-30	2006-03-28		ENSG00000110848	ENSG00000110848		"""C-type lectin domain containing"", ""CD molecules"""	1694	protein-coding gene	gene with protein product		107273	"""CD69 antigen (p60, early T-cell activation antigen)"""			1612643	Standard	NM_001781		Approved	CLEC2C	uc001qwk.3	Q07108	OTTHUMG00000168481	ENST00000228434.3:c.22G>A	12.37:g.9913395C>T	ENSP00000228434:p.Val8Ile					CD69_ENST00000536709.1_Missense_Mutation_p.V8I	p.V8I	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN			1	102	-			8						Missense_Mutation	SNP	ENST00000228434.3	37	c.22G>A	CCDS8604.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.174561	0.00312	.	.	ENSG00000110848	ENST00000228434;ENST00000536709	T;T	0.01548	5.1;4.78	5.14	-10.3	0.00346	.	1.457910	0.03588	N	0.231416	T	0.00468	0.0015	N	0.00368	-1.59	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.0	T	0.49615	-0.8921	9	.	.	.	-0.2631	3.7687	0.08633	0.1839:0.4305:0.1035:0.2821	.	8;8	B4E0H7;Q07108	.;CD69_HUMAN	I	8	ENSP00000228434:V8I;ENSP00000442597:V8I	.	V	-	1	0	CD69	9804662	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.010000	0.01454	-2.284000	0.00671	-2.070000	0.00385	GTA		0.393	CD69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399876.1			4	174	0	0	0	1	0	4	174				
POTEE	445582	broad.mit.edu	37	2	131976470	131976470	+	Silent	SNP	C	C	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr2:131976470C>T	ENST00000356920.5	+	1	589	c.495C>T	c.(493-495)gaC>gaT	p.D165D	POTEE_ENST00000358087.5_Silent_p.D165D|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	165					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GGGACACTGACGTGAACAAGA	0.592																																						ENST00000356920.5																			0											c.(493-495)gaC>gaT		POTE ankyrin domain family, member E							141.0	143.0	143.0					2																	131976470		2202	4300	6502	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131976470C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.495C>T	2.37:g.131976470C>T						PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.D165D	p.D165D	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	589	+			165					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.495C>T	CCDS46414.1																																																																																				0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		16	443	0	0	0	1	0	16	443				
HADH	3033	broad.mit.edu	37	4	108953498	108953498	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr4:108953498G>A	ENST00000403312.1	+	7	944	c.902G>A	c.(901-903)gGt>gAt	p.G301D	HADH_ENST00000454409.2_Intron|HADH_ENST00000510728.1_Intron|HADH_ENST00000309522.3_Intron|HADH_ENST00000603302.1_Missense_Mutation_p.G242D|HADH_ENST00000505878.1_Intron	NM_001184705.2	NP_001171634.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	566					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		CAAACGTGTGGTGATTCTAAC	0.423																																						ENST00000403312.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15						c.(901-903)gGt>gAt		hydroxyacyl-CoA dehydrogenase	NADH(DB00157)						285.0	285.0	285.0					4																	108953498		876	1991	2867	SO:0001583	missense	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108953498G>A	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000403312.1:c.902G>A	4.37:g.108953498G>A	ENSP00000385638:p.Gly301Asp					HADH_ENST00000603302.1_Missense_Mutation_p.G242D|HADH_ENST00000454409.2_Intron|HADH_ENST00000510728.1_Intron|HADH_ENST00000309522.3_Intron|HADH_ENST00000505878.1_Intron	p.G301D	NM_001184705.2	NP_001171634.2	Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	7	944	+		Hepatocellular(203;0.217)	236					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000403312.1	37	c.902G>A		.	.	.	.	.	.	.	.	.	.	G	4.239	0.043385	0.08196	.	.	ENSG00000138796	ENST00000403312	.	.	.	2.38	0.495	0.16890	.	.	.	.	.	T	0.25082	0.0609	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18777	-1.0326	7	0.33940	T	0.23	.	4.3022	0.10930	0.3822:0.0:0.6178:0.0	.	301	Q16836-2	.	D	242	.	ENSP00000385638:G242D	G	+	2	0	HADH	109172947	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.187000	0.16998	0.092000	0.17331	0.655000	0.94253	GGT		0.423	HADH-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254751.3	NM_005327		8	358	0	0	0	1	0	8	358				
AP2A2	161	broad.mit.edu	37	11	977124	977124	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr11:977124C>T	ENST00000448903.2	+	5	644	c.503C>T	c.(502-504)gCg>gTg	p.A168V	AP2A2_ENST00000332231.5_Missense_Mutation_p.A168V|AP2A2_ENST00000534328.1_Missense_Mutation_p.A168V	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	168					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGCAGAGCGCGGCCCTGTGC	0.612																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(502-504)gCg>gTg		adaptor-related protein complex 2, alpha 2 subunit							57.0	67.0	64.0					11																	977124		2150	4234	6384	SO:0001583	missense	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:977124C>T	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.503C>T	11.37:g.977124C>T	ENSP00000413234:p.Ala168Val					AP2A2_ENST00000332231.5_Missense_Mutation_p.A168V|AP2A2_ENST00000534328.1_Missense_Mutation_p.A168V	p.A168V	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	5	644	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	168					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.503C>T	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248208	0.59103	.	.	ENSG00000183020	ENST00000525796;ENST00000534328;ENST00000417081;ENST00000448903;ENST00000332231;ENST00000448757;ENST00000531548;ENST00000534485;ENST00000329626	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	2.96	2.05	0.26809	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80433	0.4622	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.995	D	0.83729	0.0197	10	0.87932	D	0	-14.1979	10.6704	0.45755	0.0:0.9022:0.0:0.0978	.	61;168;168	Q59FN8;O94973-2;O94973	.;.;AP2A2_HUMAN	V	8;168;168;168;168;168;174;158;41	ENSP00000437228:A8V;ENSP00000436059:A168V;ENSP00000413234:A168V;ENSP00000327694:A168V;ENSP00000433498:A174V;ENSP00000435756:A158V	ENSP00000328024:A41V	A	+	2	0	AP2A2	967124	1.000000	0.71417	0.638000	0.29380	0.083000	0.17756	7.543000	0.82106	0.835000	0.34877	-0.229000	0.12294	GCG		0.612	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		4	81	0	0	0	1	0	4	81				
ERICH3	127254	broad.mit.edu	37	1	75107127	75107127	+	Missense_Mutation	SNP	C	C	A	rs201835185		TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr1:75107127C>A	ENST00000326665.5	-	5	550	c.332G>T	c.(331-333)aGg>aTg	p.R111M		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		111										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCAACAGACCTTCTTGTGTG	0.408																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(331-333)aGg>aTg		chromosome 1 open reading frame 173							128.0	115.0	120.0					1																	75107127		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75107127C>A																												ENST00000326665.5:c.332G>T	1.37:g.75107127C>A	ENSP00000322609:p.Arg111Met						p.R111M	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			5	550	-			111					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.332G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548105	0.27652	.	.	ENSG00000178965	ENST00000326665	T	0.13778	2.56	5.41	3.12	0.35913	.	.	.	.	.	T	0.11965	0.0291	L	0.46157	1.445	0.22639	N	0.99891	D	0.67145	0.996	P	0.59288	0.855	T	0.08006	-1.0743	9	0.56958	D	0.05	-0.0045	9.6434	0.39853	0.0:0.8761:0.0:0.1239	.	111	Q5RHP9	CA173_HUMAN	M	111	ENSP00000322609:R111M	ENSP00000322609:R111M	R	-	2	0	C1orf173	74879715	0.962000	0.33011	0.010000	0.14722	0.042000	0.13812	2.114000	0.41911	0.521000	0.28445	0.557000	0.71058	AGG		0.408	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			7	105	1	0	8.12818e-05	1	8.50333e-05	7	105				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	98	1	0	0.014758	1	0.0149783	4	98				
LZTS1	11178	broad.mit.edu	37	8	20107496	20107496	+	Missense_Mutation	SNP	C	C	T	rs199603808		TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr8:20107496C>T	ENST00000381569.1	-	4	1885	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	LZTS1_ENST00000265801.6_Missense_Mutation_p.E510K|LZTS1_ENST00000522290.1_Intron			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	510					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCCGCAGCTCGGCCCGCAGC	0.701																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1528-1530)Gag>Aag		leucine zipper, putative tumor suppressor 1							46.0	50.0	49.0					8																	20107496		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107496C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1528G>A	8.37:g.20107496C>T	ENSP00000370981:p.Glu510Lys					LZTS1_ENST00000265801.6_Missense_Mutation_p.E510K|LZTS1_ENST00000522290.1_Intron	p.E510K			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	1885	-			510					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1528G>A	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	c	26.2	4.713867	0.89112	.	.	ENSG00000061337	ENST00000381569;ENST00000265801	T;T	0.52983	0.64;0.64	4.97	4.1	0.47936	.	0.176391	0.49916	N	0.000128	T	0.51890	0.1701	M	0.83603	2.65	0.58432	D	0.999992	D	0.56746	0.977	B	0.43123	0.409	T	0.59150	-0.7508	10	0.46703	T	0.11	-41.8419	11.9069	0.52717	0.0:0.9145:0.0:0.0855	.	510	Q9Y250	LZTS1_HUMAN	K	510	ENSP00000370981:E510K;ENSP00000265801:E510K	ENSP00000265801:E510K	E	-	1	0	LZTS1	20151776	1.000000	0.71417	0.938000	0.37757	0.940000	0.58332	3.859000	0.55987	1.101000	0.41535	0.556000	0.70494	GAG		0.701	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		4	154	0	0	0	1	0	4	154				
TLDC2	140711	broad.mit.edu	37	20	35504580	35504580	+	Start_Codon_SNP	SNP	G	G	C			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr20:35504580G>C	ENST00000217320.3	+	1	47	c.3G>C	c.(1-3)atG>atC	p.M1I	TLDC2_ENST00000602922.1_Start_Codon_SNP_p.M1I	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	1																	ACAGGAGAATGAGAGGCCTCC	0.617																																						ENST00000217320.3																			0											c.(1-3)atG>atC		TBC/LysM-associated domain containing 2							136.0	133.0	134.0					20																	35504580		2203	4300	6503	SO:0001582	initiator_codon_variant	140711							g.chr20:35504580G>C	AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""		"""chromosome 20 open reading frame 118"""	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.3G>C	20.37:g.35504580G>C	ENSP00000217320:p.Met1Ile					TLDC2_ENST00000602922.1_Start_Codon_SNP_p.M1I	p.M1I	NM_080628.1	NP_542195.1					1	47	+								B3KVU8	Translation_Start_Site	SNP	ENST00000217320.3	37	c.3G>C	CCDS33465.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763798	0.69878	.	.	ENSG00000101342	ENST00000217320	T	0.29397	1.57	4.38	4.38	0.52667	.	0.450751	0.20214	N	0.096836	T	0.47728	0.1461	.	.	.	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.31641	-0.9936	9	0.39692	T	0.17	-33.8066	12.6137	0.56565	0.0:0.0:1.0:0.0	.	1	A0PJX2	CT118_HUMAN	I	1	ENSP00000217320:M1I	ENSP00000217320:M1I	M	+	3	0	C20orf118	34937994	1.000000	0.71417	0.914000	0.36105	0.636000	0.38137	3.965000	0.56788	2.440000	0.82611	0.561000	0.74099	ATG		0.617	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628	Missense_Mutation	7	284	0	0	0	1	0	7	284				
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr7:142168890C>T	ENST00000454561.2	-	0	155									T cell receptor beta variable 5-4																		GGGCTTGGTCCTCCTGGGGAA	0.592																																						ENST00000454561.2																			0																				25.0	26.0	26.0					7																	142168890		1957	4131	6088			0							g.chr7:142168890C>T	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168890C>T														0	155	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.592	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		4	35	0	0	0	1	0	4	35				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	113	0	0	0	1	0	4	113				
NOS2	4843	broad.mit.edu	37	17	26094758	26094758	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr17:26094758C>T	ENST00000313735.6	-	18	2373	c.2140G>A	c.(2140-2142)Gac>Aac	p.D714N		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	714					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GGCTGTGAGTCCTGCACGAGC	0.557																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(2140-2142)Gac>Aac		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						74.0	58.0	63.0					17																	26094758		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26094758C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2140G>A	17.37:g.26094758C>T	ENSP00000327251:p.Asp714Asn						p.D714N	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			18	2373	-			714					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.2140G>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216369	0.39201	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.32753	1.44	5.18	3.93	0.45458	Riboflavin synthase-like beta-barrel (1);	0.180824	0.45606	D	0.000342	T	0.26557	0.0649	L	0.52126	1.63	0.28861	N	0.895519	B;B	0.16802	0.019;0.003	B;B	0.18561	0.022;0.009	T	0.15896	-1.0421	10	0.23891	T	0.37	.	10.5411	0.45033	0.0:0.8813:0.0:0.1187	.	679;714	F8WEM3;P35228	.;NOS2_HUMAN	N	714;675;679	ENSP00000327251:D714N	ENSP00000305638:D679N	D	-	1	0	NOS2	23118885	0.996000	0.38824	0.436000	0.26797	0.991000	0.79684	3.387000	0.52501	0.853000	0.35312	0.456000	0.33151	GAC		0.557	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		8	65	0	0	0	1	0	8	65				
TUBGCP6	85378	broad.mit.edu	37	22	50682700	50682700	+	Silent	SNP	T	T	C			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr22:50682700T>C	ENST00000248846.5	-	1	293	c.189A>G	c.(187-189)aaA>aaG	p.K63K	MAPK12_ENST00000497036.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank|TUBGCP6_ENST00000439308.2_Silent_p.K63K			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	63					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCGCTGGTAGTTTTGACATGT	0.522																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(187-189)aaA>aaG		tubulin, gamma complex associated protein 6							83.0	77.0	79.0					22																	50682700		2202	4300	6502	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50682700T>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.189A>G	22.37:g.50682700T>C						TUBGCP6_ENST00000248846.5_Silent_p.K63K	p.K63K	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	681	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	63					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.189A>G	CCDS14087.1																																																																																				0.522	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		14	165	0	0	0	1	0	14	165				
KIAA1211L	343990	broad.mit.edu	37	2	99413924	99413924	+	Silent	SNP	C	C	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr2:99413924C>T	ENST00000397899.2	-	8	2824	c.2493G>A	c.(2491-2493)cgG>cgA	p.R831R		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	831								p.R831R(1)									TCCGCTTCTGCCGAGTGACGG	0.612																																						ENST00000397899.2																			1	Substitution - coding silent(1)	p.R831R(1)	lung(1)								c.(2491-2493)cgG>cgA		KIAA1211-like							80.0	85.0	84.0					2																	99413924		2082	4206	6288	SO:0001819	synonymous_variant	343990							g.chr2:99413924C>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2493G>A	2.37:g.99413924C>T							p.R831R	NM_207362.2	NP_997245.2					8	2824	-									Silent	SNP	ENST00000397899.2	37	c.2493G>A	CCDS42720.1																																																																																				0.612	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		5	205	0	0	0	1	0	5	205				
HK3	3101	broad.mit.edu	37	5	176310790	176310790	+	Silent	SNP	G	G	A	rs140261586	byFrequency	TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr5:176310790G>A	ENST00000292432.5	-	15	2125	c.2034C>T	c.(2032-2034)tgC>tgT	p.C678C		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	678	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCTATCTCGCAACGGGGGT	0.547													G|||	9	0.00179712	0.0	0.0029	5008	,	,		20514	0.0		0.007	False		,,,				2504	0.0					ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2032-2034)tgC>tgT		hexokinase 3 (white cell)		G		3,4403	6.2+/-15.9	0,3,2200	177.0	143.0	154.0		2034	-4.4	0.9	5	dbSNP_134	154	20,8580	15.3+/-51.7	0,20,4280	no	coding-synonymous	HK3	NM_002115.2		0,23,6480	AA,AG,GG		0.2326,0.0681,0.1768		678/924	176310790	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176310790G>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2034C>T	5.37:g.176310790G>A							p.C678C	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	2125	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	678			Catalytic.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.2034C>T	CCDS4407.1																																																																																				0.547	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			6	142	0	0	0	1	0	6	142				
ZNF789	285989	broad.mit.edu	37	7	99084225	99084225	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr7:99084225A>C	ENST00000331410.5	+	5	662	c.392A>C	c.(391-393)aAg>aCg	p.K131T	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	131					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(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGTTACATAAGTGTAAAGAA	0.368																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(391-393)aAg>aCg		zinc finger protein 789							82.0	84.0	84.0					7																	99084225		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084225A>C	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.392A>C	7.37:g.99084225A>C	ENSP00000331927:p.Lys131Thr					ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron	p.K131T	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	662	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		131					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.392A>C	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	A	7.961	0.746915	0.15710	.	.	ENSG00000198556	ENST00000331410	T	0.05447	3.44	2.45	-0.0298	0.13917	.	.	.	.	.	T	0.05502	0.0145	L	0.48174	1.505	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.40021	-0.9585	9	0.40728	T	0.16	.	2.7155	0.05186	0.5628:0.2773:0.1599:0.0	.	131	Q5FWF6	ZN789_HUMAN	T	131	ENSP00000331927:K131T	ENSP00000331927:K131T	K	+	2	0	ZNF789	98922161	0.000000	0.05858	0.001000	0.08648	0.189000	0.23516	0.286000	0.18902	-0.011000	0.14247	0.528000	0.53228	AAG		0.368	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		25	161	0	0	0	1	0	25	161				
FBXO42	54455	broad.mit.edu	37	1	16577790	16577790	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr1:16577790G>A	ENST00000375592.3	-	10	1745	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	510										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ATTACTACTGGAAGCGGGTTT	0.483																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1528-1530)tCc>tTc		F-box protein 42							105.0	86.0	93.0					1																	16577790		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577790G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1529C>T	1.37:g.16577790G>A	ENSP00000364742:p.Ser510Phe						p.S510F	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	1745	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	510					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1529C>T	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872372	0.51695	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.52057	3.74;0.68;0.68	5.51	5.51	0.81932	.	0.189141	0.46442	D	0.000286	T	0.49626	0.1568	N	0.08118	0	0.58432	D	0.999998	D	0.61697	0.99	D	0.69142	0.962	T	0.59354	-0.7470	10	0.66056	D	0.02	-15.6528	16.9339	0.86198	0.0:0.0:1.0:0.0	.	510	Q6P3S6	FBX42_HUMAN	F	510;228;228	ENSP00000364742:S510F;ENSP00000415663:S228F;ENSP00000412416:S228F	ENSP00000364742:S510F	S	-	2	0	FBXO42	16450377	1.000000	0.71417	0.906000	0.35671	0.569000	0.35902	5.782000	0.68973	2.763000	0.94921	0.650000	0.86243	TCC		0.483	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			17	161	0	0	0	1	0	17	161				
CD1D	912	broad.mit.edu	37	1	158151489	158151489	+	Silent	SNP	C	C	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr1:158151489C>T	ENST00000368171.3	+	3	805	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	102					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGAAGGAATTCGCCAAAATGC	0.557																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(304-306)ttC>ttT		CD1d molecule							52.0	54.0	53.0					1																	158151489		2203	4300	6503	SO:0001819	synonymous_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151489C>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.306C>T	1.37:g.158151489C>T							p.F102F	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			3	805	+	all_hematologic(112;0.0378)		102					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	c.306C>T	CCDS1173.1																																																																																				0.557	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		9	133	0	0	0	1	0	9	133				
TNK1	8711	broad.mit.edu	37	17	7286330	7286330	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr17:7286330G>A	ENST00000576812.1	+	2	454	c.85G>A	c.(85-87)Gag>Aag	p.E29K	TNK1_ENST00000311668.2_Missense_Mutation_p.E29K|TNK1_ENST00000570896.1_Missense_Mutation_p.E29K	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CATCCTTGAGGAGCTTAATGT	0.597																																						ENST00000570896.1																			0				central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16						c.(85-87)Gag>Aag		tyrosine kinase, non-receptor, 1							58.0	63.0	61.0					17																	7286330		2143	4248	6391	SO:0001583	missense	8711				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chr17:7286330G>A	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.85G>A	17.37:g.7286330G>A	ENSP00000459799:p.Glu29Lys					TNK1_ENST00000576812.1_Missense_Mutation_p.E29K|TNK1_ENST00000311668.2_Missense_Mutation_p.E29K	p.E29K			Q13470	TNK1_HUMAN			3	531	+		Prostate(122;0.157)	29						Missense_Mutation	SNP	ENST00000576812.1	37	c.85G>A	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157638	0.78114	.	.	ENSG00000174292	ENST00000311668	T	0.21734	1.99	5.03	3.97	0.46021	.	0.000000	0.50627	D	0.000115	T	0.27169	0.0666	L	0.46157	1.445	0.33731	D	0.618248	D;P	0.56035	0.974;0.956	P;B	0.50659	0.647;0.444	T	0.27434	-1.0074	10	0.45353	T	0.12	.	13.0726	0.59070	0.0:0.1632:0.8368:0.0	.	29;29	Q13470-2;Q13470	.;TNK1_HUMAN	K	29	ENSP00000312309:E29K	ENSP00000312309:E29K	E	+	1	0	TNK1	7227054	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.419000	0.59835	2.723000	0.93209	0.650000	0.86243	GAG		0.597	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		6	100	0	0	0	1	0	6	100				
PAX9	5083	broad.mit.edu	37	14	37132662	37132662	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr14:37132662C>T	ENST00000361487.6	+	2	790	c.565C>T	c.(565-567)Ccg>Tcg	p.P189S	PAX9_ENST00000554201.1_Missense_Mutation_p.P2S|PAX9_ENST00000402703.2_Missense_Mutation_p.P189S			P55771	PAX9_HUMAN	paired box 9	189	Interaction with KDM5B.				cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GGTGGCCATGCCGCGCACCTG	0.682																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12						c.(565-567)Ccg>Tcg		paired box 9							32.0	32.0	32.0					14																	37132662		2203	4298	6501	SO:0001583	missense	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37132662C>T	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.565C>T	14.37:g.37132662C>T	ENSP00000355245:p.Pro189Ser					PAX9_ENST00000554201.1_Missense_Mutation_p.P2S|PAX9_ENST00000402703.2_Missense_Mutation_p.P189S	p.P189S			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	2	790	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		189			Interaction with KDM5B.		Q99582|Q9UQR4	Missense_Mutation	SNP	ENST00000361487.6	37	c.565C>T	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956446	0.73902	.	.	ENSG00000198807	ENST00000402703;ENST00000361487;ENST00000554201	D;D;T	0.98926	-5.24;-5.24;0.82	5.25	5.25	0.73442	.	0.047247	0.85682	D	0.000000	D	0.97129	0.9062	L	0.49350	1.555	0.58432	D	0.999997	P	0.38922	0.651	B	0.35931	0.214	D	0.97324	0.9946	10	0.41790	T	0.15	.	18.8295	0.92132	0.0:1.0:0.0:0.0	.	189	P55771	PAX9_HUMAN	S	189;189;2	ENSP00000384817:P189S;ENSP00000355245:P189S;ENSP00000450434:P2S	ENSP00000355245:P189S	P	+	1	0	PAX9	36202413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.952000	0.63618	2.445000	0.82738	0.561000	0.74099	CCG		0.682	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			4	117	0	0	0	1	0	4	117				
IGHA1	3493	broad.mit.edu	37	14	106173748	106173748	+	RNA	SNP	G	G	A			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr14:106173748G>A	ENST00000390547.2	-	0	818				AL928768.3_ENST00000497872.2_lincRNA			P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										GGTACTTCTCGCGGGGCAGCT	0.662																																						ENST00000390547.2																			0																				32.0	51.0	45.0					14																	106173748		2109	4233	6342			0							g.chr14:106173748G>A	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106173748G>A														0	818	-									RNA	SNP	ENST00000390547.2	37																																																																																						0.662	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		16	153	0	0	0	1	0	16	153				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	95	0	0	0	1	0	4	95				
TRA2A	29896	broad.mit.edu	37	7	23561395	23561395	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr7:23561395G>A	ENST00000297071.4	-	2	317	c.101C>T	c.(100-102)tCa>tTa	p.S34L	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	34	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						ACGAGATCCTGACCTGCTCTC	0.418																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(100-102)tCa>tTa		transformer 2 alpha homolog (Drosophila)							111.0	106.0	108.0					7																	23561395		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23561395G>A	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.101C>T	7.37:g.23561395G>A	ENSP00000297071:p.Ser34Leu					TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	p.S34L	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN			2	317	-			34			Arg/Ser-rich (RS1 domain).		B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.101C>T	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538900	0.65085	.	.	ENSG00000164548	ENST00000297071	T	0.51817	0.69	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	M	0.68317	2.08	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.66448	-0.5921	10	0.62326	D	0.03	-4.8862	20.4323	0.99082	0.0:0.0:1.0:0.0	.	34	Q13595	TRA2A_HUMAN	L	34	ENSP00000297071:S34L	ENSP00000297071:S34L	S	-	2	0	TRA2A	23527920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.574000	0.82434	2.834000	0.97654	0.585000	0.79938	TCA		0.418	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		4	140	0	0	0	1	0	4	140				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	140	0	0	0	1	0	5	140				
NUP160	23279	broad.mit.edu	37	11	47857211	47857211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr11:47857211G>A	ENST00000378460.2	-	7	1139	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	NUP160_ENST00000530326.1_Nonsense_Mutation_p.R251*|NUP160_ENST00000528071.1_Nonsense_Mutation_p.R251*	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	365					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ACCTGTCCTCGTTTTGGTGCA	0.448																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(1093-1095)Cga>Tga		nucleoporin 160kDa							170.0	154.0	160.0					11																	47857211		2201	4298	6499	SO:0001587	stop_gained	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47857211G>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.1093C>T	11.37:g.47857211G>A	ENSP00000367721:p.Arg365*					NUP160_ENST00000528071.1_Nonsense_Mutation_p.R251*|NUP160_ENST00000530326.1_Nonsense_Mutation_p.R251*	p.R365*	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			7	1139	-			365					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Nonsense_Mutation	SNP	ENST00000378460.2	37	c.1093C>T	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787130	0.49997	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071	.	.	.	5.38	5.38	0.77491	.	0.128159	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	19.1316	0.93410	0.0:0.0:1.0:0.0	.	.	.	.	X	365;115;251;251	.	ENSP00000367721:R365X	R	-	1	2	NUP160	47813787	0.912000	0.30974	0.721000	0.30653	0.371000	0.29859	3.309000	0.51903	2.545000	0.85829	0.591000	0.81541	CGA		0.448	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		10	122	0	0	0	1	0	10	122				
OR5AU1	390445	broad.mit.edu	37	14	21623156	21623156	+	Silent	SNP	C	C	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr14:21623156C>T	ENST00000304418.3	-	1	1066	c.1029G>A	c.(1027-1029)ttG>ttA	p.L343L		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CCTTGTTTCTCAAAGAGTACA	0.463																																						ENST00000304418.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(1027-1029)ttG>ttA		olfactory receptor, family 5, subfamily AU, member 1							83.0	83.0	83.0					14																	21623156		2203	4300	6503	SO:0001819	synonymous_variant	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623156C>T	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.1029G>A	14.37:g.21623156C>T							p.L343L	NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	1066	-	all_cancers(95;0.00238)		343					B2RP78|Q6IEU2|Q96R10	Silent	SNP	ENST00000304418.3	37	c.1029G>A	CCDS32042.1																																																																																				0.463	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			19	133	0	0	0	1	0	19	133				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	141	0	0	0	1	0	4	141				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			0							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		4	41	0	0	0	1	0	4	41				
ZNF417	147687	broad.mit.edu	37	19	58423500	58423500	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:58423500G>C	ENST00000312026.5	-	2	255	c.91C>G	c.(91-93)Ctt>Gtt	p.L31V	ZNF417_ENST00000536263.1_5'UTR|ZNF417_ENST00000595559.1_Missense_Mutation_p.L30V|CTD-2583A14.9_ENST00000602124.1_5'UTR	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCACTAAGAAGACACCACTCC	0.507																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(91-93)Ctt>Gtt		zinc finger protein 417							70.0	69.0	69.0					19																	58423500		2202	4281	6483	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58423500G>C	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.91C>G	19.37:g.58423500G>C	ENSP00000311319:p.Leu31Val					ZNF417_ENST00000536263.1_5'UTR|ZNF417_ENST00000595559.1_Missense_Mutation_p.L30V|CTD-2583A14.9_ENST00000602124.1_5'UTR	p.L31V	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	2	255	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	31			KRAB.		B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.91C>G	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	4.780	0.145038	0.09134	.	.	ENSG00000173480	ENST00000312026	T	0.02158	4.42	1.9	0.85	0.18980	Krueppel-associated box (4);	.	.	.	.	T	0.08133	0.0203	H	0.95079	3.62	0.19300	N	0.999971	P;P	0.52316	0.928;0.952	B;P	0.48141	0.201;0.568	T	0.17961	-1.0352	9	0.54805	T	0.06	.	2.4508	0.04517	0.1798:0.0:0.5279:0.2923	.	31;31	F5H0M9;Q8TAU3	.;ZN417_HUMAN	V	31	ENSP00000311319:L31V	ENSP00000311319:L31V	L	-	1	0	ZNF417	63115312	0.054000	0.20591	0.032000	0.17829	0.068000	0.16541	1.276000	0.33156	0.355000	0.24131	0.305000	0.20034	CTT		0.507	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		9	212	0	0	0	1	0	9	212				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				4	18	1	0	2.56e-06	1	2.76317e-06	4	18				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	232	0	0	0	1	0	5	232				
ZNF638	27332	broad.mit.edu	37	2	71649963	71649963	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr2:71649963C>A	ENST00000409544.1	+	22	3949	c.3319C>A	c.(3319-3321)Cca>Aca	p.P1107T	ZNF638_ENST00000264447.4_Missense_Mutation_p.P1107T|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.P47T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1107	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAAAAACAGTCCAATTGATGA	0.338																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(3319-3321)Cca>Aca		zinc finger protein 638							56.0	57.0	57.0					2																	71649963		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71649963C>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3319C>A	2.37:g.71649963C>A	ENSP00000386433:p.Pro1107Thr					ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.P1107T|ZNF638_ENST00000409407.1_Missense_Mutation_p.P47T	p.P1107T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			22	3949	+			1107			Glu-rich.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.3319C>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243267	0.58995	.	.	ENSG00000075292	ENST00000394137;ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.46063	1.46;1.46;0.88	5.32	5.32	0.75619	.	0.000000	0.53938	D	0.000058	T	0.51753	0.1693	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.36138	-0.9760	10	0.24483	T	0.36	-3.6728	14.8465	0.70264	0.0:1.0:0.0:0.0	.	1107;1107;1107	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	T	686;1107;1107;47;47	ENSP00000264447:P1107T;ENSP00000386433:P1107T;ENSP00000386813:P47T	ENSP00000264447:P1107T	P	+	1	0	ZNF638	71503471	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.543000	0.60684	2.646000	0.89796	0.655000	0.94253	CCA		0.338	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		4	124	1	0	0.217242	1	0.217242	4	124				
PDHA2	5161	broad.mit.edu	37	4	96762205	96762205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr4:96762205C>T	ENST00000295266.4	+	1	967	c.904C>T	c.(904-906)Cga>Tga	p.R302*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	302					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TTATCGTACACGAGAAGAAAT	0.423																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(904-906)Cga>Tga		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						94.0	92.0	93.0					4																	96762205		2203	4300	6503	SO:0001587	stop_gained	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762205C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.904C>T	4.37:g.96762205C>T	ENSP00000295266:p.Arg302*						p.R302*	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	967	+		Hepatocellular(203;0.114)	302					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Nonsense_Mutation	SNP	ENST00000295266.4	37	c.904C>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980352	0.53827	.	.	ENSG00000163114	ENST00000295266	.	.	.	4.91	1.04	0.20106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0511	13.5147	0.61533	0.689:0.311:0.0:0.0	.	.	.	.	X	302	.	ENSP00000295266:R302X	R	+	1	2	PDHA2	96981228	0.937000	0.31787	0.001000	0.08648	0.313000	0.28021	2.006000	0.40874	0.051000	0.15978	-0.366000	0.07423	CGA		0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			15	136	0	0	0	1	0	15	136				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	115	0	0	0	1	0	4	115				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				4	19	0	0	0	1	0	4	19				
ZBTB48	3104	broad.mit.edu	37	1	6649154	6649154	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr1:6649154G>A	ENST00000377674.4	+	11	2107	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	650					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GCCCAGGGCGGCCTGGCCTCC	0.672																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	ENST00000377674.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(1948-1950)gGc>gAc		zinc finger and BTB domain containing 48							43.0	50.0	48.0					1																	6649154		2203	4300	6503	SO:0001583	missense	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6649154G>A	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1949G>A	1.37:g.6649154G>A	ENSP00000366902:p.Gly650Asp						p.G650D	NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	11	2107	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	650					Q5SY19	Missense_Mutation	SNP	ENST00000377674.4	37	c.1949G>A	CCDS84.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165703	0.38217	.	.	ENSG00000204859	ENST00000377674	T	0.10477	2.87	5.75	1.33	0.21861	.	1.094580	0.06807	N	0.789692	T	0.07503	0.0189	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.18561	0.022	T	0.40869	-0.9540	10	0.12430	T	0.62	-8.1441	12.7459	0.57281	0.0:0.4921:0.4044:0.1034	.	650	P10074	ZBT48_HUMAN	D	650	ENSP00000366902:G650D	ENSP00000366902:G650D	G	+	2	0	ZBTB48	6571741	0.881000	0.30235	0.432000	0.26747	0.943000	0.58893	3.438000	0.52871	0.382000	0.24878	0.655000	0.94253	GGC		0.672	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		5	175	0	0	0	1	0	5	175				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	100	0	0	0	1	0	4	100				
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr15:76074470A>G	ENST00000395215.3	+	0	649				RN7SL319P_ENST00000480656.2_RNA														p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577																																						ENST00000395215.3																			4	Substitution - Missense(4)	p.Q203R(4)	kidney(3)|endometrium(1)																																																0							g.chr15:76074470A>G																													15.37:g.76074470A>G														0	649	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164202	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.40222	0.1108	.	.	.	.	.	.	D	0.54964	0.969	P	0.57101	0.813	T	0.45101	-0.9284	6	0.19147	T	0.46	.	2.915	0.05750	0.5938:0.0:0.0:0.4062	.	203	B4DZE6	.	R	203	.	ENSP00000378641:Q203R	Q	+	2	0	AC019294.2	73861525	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	0.808000	0.27154	0.620000	0.30215	0.228000	0.17796	CAG		0.577	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			4	19	0	0	0	1	0	4	19				
RYR1	6261	broad.mit.edu	37	19	38958369	38958369	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:38958369C>T	ENST00000359596.3	+	25	3298	c.3298C>T	c.(3298-3300)Cgc>Tgc	p.R1100C	RYR1_ENST00000360985.3_Missense_Mutation_p.R1100C|RYR1_ENST00000355481.4_Missense_Mutation_p.R1100C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1100	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	AGGCGAGATGCGCGTGGGCTG	0.622																																						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.(3298-3300)Cgc>Tgc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						89.0	75.0	80.0					19																	38958369		2203	4300	6503	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.chr19:38958369C>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.3298C>T	19.37:g.38958369C>T	ENSP00000352608:p.Arg1100Cys					RYR1_ENST00000359596.3_Missense_Mutation_p.R1100C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100C	p.R1100C	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)		25	3429	+	all_cancers(60;7.91e-06)		1100			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3298C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	14.82	2.650545	0.47362	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.71222	-0.55;-0.55;-0.55	2.94	2.94	0.34122	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.177658	0.34200	U	0.004163	D	0.85496	0.5710	M	0.93062	3.375	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87643	0.2523	10	0.87932	D	0	.	10.2497	0.43362	0.1988:0.8012:0.0:0.0	.	1100;1100	P21817-2;P21817	.;RYR1_HUMAN	C	1100	ENSP00000352608:R1100C;ENSP00000347667:R1100C;ENSP00000354254:R1100C	ENSP00000347667:R1100C	R	+	1	0	RYR1	43650209	0.998000	0.40836	1.000000	0.80357	0.958000	0.62258	0.531000	0.23052	1.972000	0.57404	0.403000	0.27427	CGC		0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	191	0	0	0	1	0	5	191				
HCN1	348980	broad.mit.edu	37	5	45645337	45645337	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr5:45645337G>A	ENST00000303230.4	-	2	856	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	267					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CGTAATAAACGCAAGAGACTG	0.313																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(799-801)Cgt>Tgt		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							46.0	46.0	46.0					5																	45645337		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645337G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.799C>T	5.37:g.45645337G>A	ENSP00000307342:p.Arg267Cys						p.R267C	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			2	856	-			267						Missense_Mutation	SNP	ENST00000303230.4	37	c.799C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980931	0.74474	.	.	ENSG00000164588	ENST00000303230	D	0.98835	-5.17	5.5	5.5	0.81552	Ion transport (1);	0.000000	0.64402	D	0.000012	D	0.99245	0.9737	H	0.94808	3.585	0.80722	D	1	D	0.56746	0.977	P	0.55713	0.782	D	0.99271	1.0893	10	0.87932	D	0	.	19.403	0.94639	0.0:0.0:1.0:0.0	.	267	O60741	HCN1_HUMAN	C	267	ENSP00000307342:R267C	ENSP00000307342:R267C	R	-	1	0	HCN1	45681094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.405000	0.66351	2.589000	0.87451	0.650000	0.86243	CGT		0.313	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		7	52	0	0	0	1	0	7	52				
LRRC27	80313	broad.mit.edu	37	10	134158049	134158049	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr10:134158049G>T	ENST00000368614.3	+	5	553	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	LRRC27_ENST00000368615.3_Nonsense_Mutation_p.E150*|LRRC27_ENST00000356571.4_Missense_Mutation_p.G130V|LRRC27_ENST00000392638.2_Nonsense_Mutation_p.E150*|LRRC27_ENST00000368613.4_Nonsense_Mutation_p.E150*|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.E150*|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.E88*|LRRC27_ENST00000432555.2_Nonsense_Mutation_p.E23*|LRRC27_ENST00000368610.3_Nonsense_Mutation_p.E88*	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	150										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTGCCCTCTGGAATTCCCTCC	0.498																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(448-450)Gaa>Taa		leucine rich repeat containing 27							137.0	130.0	133.0					10																	134158049		2203	4300	6503	SO:0001587	stop_gained	80313							g.chr10:134158049G>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.448G>T	10.37:g.134158049G>T	ENSP00000357603:p.Glu150*					LRRC27_ENST00000368615.3_Nonsense_Mutation_p.E150*|LRRC27_ENST00000432555.2_Nonsense_Mutation_p.E23*|LRRC27_ENST00000368614.3_Nonsense_Mutation_p.E150*|LRRC27_ENST00000356571.4_Missense_Mutation_p.G130V|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.E150*|LRRC27_ENST00000368610.3_Nonsense_Mutation_p.E88*|LRRC27_ENST00000368613.4_Nonsense_Mutation_p.E150*|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.E88*	p.E150*			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	5	643	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	150					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Nonsense_Mutation	SNP	ENST00000368614.3	37	c.448G>T	CCDS31316.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.0|23.0|23.0	4.360861|4.360861|4.360861	0.82353|0.82353|0.82353	.|.|.	.|.|.	ENSG00000148814|ENSG00000148814|ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555|ENST00000356571|ENST00000450442	.|T|.	.|0.62941|.	.|-0.01|.	5.16|5.16|5.16	4.26|4.26|4.26	0.50523|0.50523|0.50523	.|.|.	0.000000|.|.	0.42821|.|.	D|.|.	0.000656|.|.	.|T|T	.|0.53997|0.53997	.|0.1831|0.1831	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.63800|0.63800	.|-0.6555|-0.6555	.|5|3	0.39692|0.87932|.	T|D|.	0.17|0|.	-33.6976|-33.6976|-33.6976	10.2559|10.2559|10.2559	0.43397|0.43397|0.43397	0.0928:0.0:0.9072:0.0|0.0928:0.0:0.9072:0.0|0.0928:0.0:0.9072:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|V|C	150;150;150;150;150;88;88;23|130|101	.|ENSP00000348978:G130V|.	ENSP00000342641:E150X|ENSP00000348978:G130V|.	E|G|W	+|+|+	1|2|3	0|0|0	LRRC27|LRRC27|LRRC27	134008039|134008039|134008039	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.353000|0.353000|0.353000	0.29299|0.29299|0.29299	2.740000|2.740000|2.740000	0.47418|0.47418|0.47418	1.311000|1.311000|1.311000	0.45024|0.45024|0.45024	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGA|TGG		0.498	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		12	189	1	0	3.07112e-06	1	3.26306e-06	12	189				
FAM124A	220108	broad.mit.edu	37	13	51825914	51825914	+	Silent	SNP	C	C	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr13:51825914C>T	ENST00000322475.8	+	3	546	c.411C>T	c.(409-411)caC>caT	p.H137H	FAM124A_ENST00000280057.6_Silent_p.H173H	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	137										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGCAGGTGCACGGCCGGTTCC	0.672																																						ENST00000322475.8																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(409-411)caC>caT		family with sequence similarity 124A							11.0	10.0	10.0					13																	51825914		2190	4271	6461	SO:0001819	synonymous_variant	220108							g.chr13:51825914C>T	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.411C>T	13.37:g.51825914C>T						FAM124A_ENST00000280057.6_Silent_p.H173H	p.H137H	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	546	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	137					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP	ENST00000322475.8	37	c.411C>T	CCDS55900.1																																																																																				0.672	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		4	16	0	0	0	1	0	4	16				
A2M	2	broad.mit.edu	37	12	9243051	9243051	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr12:9243051C>T	ENST00000318602.7	-	20	2804	c.2497G>A	c.(2497-2499)Gcc>Acc	p.A833T		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	833					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GCTAGGAAGGCGGGAGAGGCT	0.532																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(2497-2499)Gcc>Acc		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						82.0	85.0	84.0					12																	9243051		2134	4278	6412	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9243051C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2497G>A	12.37:g.9243051C>T	ENSP00000323929:p.Ala833Thr						p.A833T	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			20	2804	-			833					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.2497G>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	6.565	0.472592	0.12461	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.13538	2.58	5.23	-4.03	0.04021	.	1.487420	0.03674	N	0.244538	T	0.12732	0.0309	L	0.51422	1.61	0.09310	N	1	B	0.27765	0.188	B	0.20184	0.028	T	0.31806	-0.9930	10	0.40728	T	0.16	.	8.161	0.31198	0.0:0.2383:0.3677:0.394	.	833	P01023	A2MG_HUMAN	T	833;848	ENSP00000323929:A833T	ENSP00000323929:A833T	A	-	1	0	A2M	9134318	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.391000	0.07323	-0.810000	0.04375	-0.768000	0.03414	GCC		0.532	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		12	137	0	0	0	1	0	12	137				
C19orf67	646457	broad.mit.edu	37	19	14199510	14199510	+	5'Flank	SNP	C	C	T			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:14199510C>T	ENST00000548523.1	-	0	0				C19orf67_ENST00000547589.1_5'Flank|SAMD1_ENST00000541938.1_5'Flank|PRKACA_ENST00000350356.3_5'Flank|SAMD1_ENST00000533683.2_Silent_p.P371P	NM_001277378.1	NP_001264307.1	A6NJJ6	CS067_HUMAN	chromosome 19 open reading frame 67											central_nervous_system(1)	1						TCGCCTGCTCCGGGAATCCAG	0.567																																						ENST00000533683.2																			0				endometrium(3)	3						c.(1111-1113)ccG>ccA		sterile alpha motif domain containing 1							51.0	56.0	54.0					19																	14199510		2012	4170	6182	SO:0001631	upstream_gene_variant	90378					cytoplasm|extracellular region		g.chr19:14199510C>T		CCDS59360.1	19p13.12	2008-07-02			ENSG00000188032	ENSG00000188032			34354	protein-coding gene	gene with protein product							Standard	NM_001277378		Approved		uc031rjr.1	A6NJJ6			19.37:g.14199510C>T	Exception_encountered						p.P371P	NM_138352.1	NP_612361.1	Q6SPF0	SAMD1_HUMAN		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)	4	1400	-		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)	477						Silent	SNP	ENST00000548523.1	37	c.1113G>A	CCDS59360.1																																																																																				0.567	C19orf67-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403368.1	XM_929382		4	89	0	0	0	1	0	4	89				
RP11-556I14.1	0	broad.mit.edu	37	4	105918247	105918247	+	lincRNA	DEL	T	T	-			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr4:105918247delT	ENST00000506386.1	+	0	71																											ttttttttccttttttttttt	0.318																																						ENST00000506386.1																			0																																																			0							g.chr4:105918247delT																													4.37:g.105918247delT														0	71	+									RNA	DEL	ENST00000506386.1	37																																																																																						0.318	RP11-556I14.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000363584.1			3	3						3	3	---	---	---	---
CELP	1057	broad.mit.edu	37	9	135962465	135962465	+	RNA	DEL	T	T	-	rs10901234|rs386739105|rs74753118|rs386739104	byFrequency	TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr9:135962465delT	ENST00000411440.2	+	0	972					NR_001275.2				carboxyl ester lipase pseudogene																		AGGATGCCCCTGTGCCCCTCA	0.677													T|T|-|deletion	2605	0.520168	0.3169	0.6527	5008	,	,		13192	0.6647		0.5915	False		,,,				2504	0.4785					ENST00000411440.2																			0																																																			0							g.chr9:135962465delT	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962465delT								NR_001275.2						0	972	+									RNA	DEL	ENST00000411440.2	37																																																																																						0.677	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808		3	5						3	5	---	---	---	---
OR56B1	387748	broad.mit.edu	37	11	5758619	5758619	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr11:5758619delC	ENST00000317121.3	+	1	939	c.873delC	c.(871-873)atcfs	p.I291fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		ACAACATCATCCCCCCTTCCC	0.403																																						ENST00000317121.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(871-873)atfs		olfactory receptor, family 56, subfamily B, member 1							290.0	270.0	277.0					11																	5758619		2201	4297	6498	SO:0001589	frameshift_variant	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758619delC	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.873delC	11.37:g.5758619delC	ENSP00000322939:p.Ile291fs					TRIM5_ENST00000380027.1_Intron	p.I291fs	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	939	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	291					B2RNY6|B3KV42|Q6IF76	Frame_Shift_Del	DEL	ENST00000317121.3	37	c.873delC	CCDS31395.1																																																																																				0.403	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		7	585						7	585	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_ENST00000555353.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000557258.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000261302.5_In_Frame_Del_p.360_361SS>S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.65																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1078-1083)tca>tc		forkhead box N3			,	89,4171		9,71,2050					,	-2.3	1.0			26	192,8028		26,140,3944	no	coding,coding	FOXN3	NM_005197.3,NM_001085471.1	,	35,211,5994	A1A1,A1R,RR		2.3358,2.0892,2.2516	,	,		281,12199				SO:0001651	inframe_deletion	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89629149_89629151delGAG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1080_1082delCTC	14.37:g.89629158_89629160delGAG	ENSP00000343288:p.Ser361del					FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del	p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1196_1198	-			360					Q96II7|Q9UIE7	In_Frame_Del	DEL	ENST00000345097.4	37	c.1080_1082delCTC	CCDS41977.1																																																																																				0.650	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		7	84						7	84	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602769	56602769	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr16:56602769delC	ENST00000219162.3	+	3	194	c.114delC	c.(112-114)tgcfs	p.C38fs		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						GTCCCTGCTGCCCCCCGGGCT	0.597																																						ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tgfs		metallothionein 4							113.0	123.0	120.0					16																	56602769		2193	4296	6489	SO:0001589	frameshift_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602769delC	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.114delC	16.37:g.56602769delC	ENSP00000219162:p.Cys38fs						p.C38fs	NM_032935.2	NP_116324.1	P47944	MT4_HUMAN			3	194	+			38					Q14DA1	Frame_Shift_Del	DEL	ENST00000219162.3	37	c.114delC	CCDS42165.1																																																																																				0.597	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		8	485						8	485	---	---	---	---
ANKRD24	170961	broad.mit.edu	37	19	4217746	4217746	+	Frame_Shift_Del	DEL	G	G	-	rs548651465	byFrequency	TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:4217746delG	ENST00000600132.1	+	18	2865	c.2589delG	c.(2587-2589)acgfs	p.T863fs	ANKRD24_ENST00000262970.5_Frame_Shift_Del_p.T953fs|ANKRD24_ENST00000318934.4_Frame_Shift_Del_p.T863fs	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	863										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CCAGGGCCACGGGGGAGCAGC	0.791																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(2587-2589)acfs		ankyrin repeat domain 24							1.0	2.0	2.0					19																	4217746		949	2239	3188	SO:0001589	frameshift_variant	170961							g.chr19:4217746delG	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2589delG	19.37:g.4217746delG	ENSP00000471252:p.Thr863fs					ANKRD24_ENST00000262970.5_Frame_Shift_Del_p.T953fs|ANKRD24_ENST00000318934.4_Frame_Shift_Del_p.T863fs	p.T863fs	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	18	2865	+			863					O75268|O95781	Frame_Shift_Del	DEL	ENST00000600132.1	37	c.2589delG	CCDS45925.1																																																																																				0.791	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		2	4						2	4	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	AGG	-	rs111939959		TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr20:29628310_29628312delAGG	ENST00000278882.3	+	6	692_694	c.312_314delAGG	c.(310-315)gcagga>gca	p.G105del	FRG1B_ENST00000358464.4_In_Frame_Del_p.G105del|FRG1B_ENST00000439954.2_In_Frame_Del_p.G110del			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	105										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTAAAACAGCAGGAGAAGAAGAA	0.355																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(310-315)gca>gc																																						SO:0001651	inframe_deletion	0							g.chr20:29628310_29628312delAGG			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.312_314delAGG	20.37:g.29628310_29628312delAGG	ENSP00000278882:p.Gly105del					FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del	p.AG104del							6	692_694	+								C4AME5	In_Frame_Del	DEL	ENST00000278882.3	37	c.312_314delAGG																																																																																					0.355	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	218						7	218	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58883399	58883400	+	lincRNA	INS	-	-	T	rs35369169|rs111867069|rs11408280	byFrequency	TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr20:58883399_58883400insT	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						ggaccgggaaacagatgcttac	0.569													T|-|T|deletion	1366	0.272764	0.4244	0.1657	5008	,	,		18567	0.127		0.2455	False		,,,				2504	0.3221					ENST00000432910.1																			0																																																			0							g.chr20:58883399_58883400insT																													20.37:g.58883399_58883400insT								NR_046099.1						0	332	+									RNA	INS	ENST00000432910.1	37																																																																																						0.569	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			5	6						5	6	---	---	---	---
