#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCB1	5243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	87175282	87175282	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr7:87175282G>C	ENST00000265724.3	-	16	2201	c.1784C>G	c.(1783-1785)gCt>gGt	p.A595G	ABCB1_ENST00000543898.1_Missense_Mutation_p.A531G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	595	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.A595G(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GATGACGTCAGCATTACGAAC	0.388																																																	1	Substitution - Missense(1)	kidney(1)											149.0	131.0	137.0					7																	87175282		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1784C>G	7.37:g.87175282G>C	ENSP00000265724:p.Ala595Gly		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069310	0.93950	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.86297	-2.1;-2.1	5.73	5.73	0.89815	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.93926	0.8056	M	0.82056	2.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71184	0.932;0.972	D	0.93874	0.7165	10	0.87932	D	0	-16.9992	20.2786	0.98501	0.0:0.0:1.0:0.0	.	531;595	B5AK60;P08183	.;MDR1_HUMAN	G	376;595;531	ENSP00000265724:A595G;ENSP00000444095:A531G	ENSP00000265724:A595G	A	-	2	0	ABCB1	87013218	1.000000	0.71417	0.997000	0.53966	0.616000	0.37450	9.781000	0.99029	2.868000	0.98415	0.557000	0.71058	GCT		0.388	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2		NM_000927	
ABCG1	9619	broad.mit.edu;hgsc.bcm.edu	37	21	43711704	43711704	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr21:43711704A>C	ENST00000361802.2	+	13	1772	c.1627A>C	c.(1627-1629)Atg>Ctg	p.M543L	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.M533L|ABCG1_ENST00000398449.3_Missense_Mutation_p.M531L|ABCG1_ENST00000343687.3_Missense_Mutation_p.M542L|ABCG1_ENST00000398437.1_Missense_Mutation_p.M689L|ABCG1_ENST00000340588.4_Missense_Mutation_p.M651L|ABCG1_ENST00000347800.2_Missense_Mutation_p.M528L	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	543	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.M533L(1)|p.M543L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GCTGGGCACCATGACCTCCCT	0.657																																																	2	Substitution - Missense(2)	kidney(2)											77.0	64.0	68.0					21																	43711704		2203	4300	6503	SO:0001583	missense	9619			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1627A>C	21.37:g.43711704A>C	ENSP00000354995:p.Met543Leu		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	CCDS13682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.124|2.124	-0.400710|-0.400710	0.04865|0.04865	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161|ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	.|T;T;T;T;T;T;T	.|0.62788	.|0.0;0.0;0.0;0.0;0.0;0.0;0.0	4.27|4.27	4.27|4.27	0.50696|0.50696	.|ABC-2 type transporter (1);	.|0.054356	.|0.64402	.|D	.|0.000001	T|T	0.28200|0.28200	0.0696|0.0696	N|N	0.00630|0.00630	-1.315|-1.315	0.41325|0.41325	D|D	0.987204|0.987204	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.06405	.|0.002;0.001;0.001;0.0;0.001;0.001	T|T	0.20874|0.20874	-1.0262|-1.0262	5|9	.|.	.|.	.|.	-41.9245|-41.9245	13.7035|13.7035	0.62624|0.62624	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|554;542;543;531;528;533	.|B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.|.;.;ABCG1_HUMAN;.;.;.	P|L	278;266;266|533;528;531;543;542;689;651	.|ENSP00000381475:M533L;ENSP00000291524:M528L;ENSP00000381467:M531L;ENSP00000354995:M543L;ENSP00000339744:M542L;ENSP00000381464:M689L;ENSP00000343820:M651L	.|.	H|M	+|+	2|1	0|0	ABCG1|ABCG1	42584773|42584773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.840000|0.840000	0.47671|0.47671	2.358000|2.358000	0.44134|0.44134	1.698000|1.698000	0.51180|0.51180	0.482000|0.482000	0.46254|0.46254	CAT|ATG		0.657	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2		NM_207174	
ADAM30	11085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	120437279	120437279	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:120437279T>G	ENST00000369400.1	-	1	1839	c.1681A>C	c.(1681-1683)Aat>Cat	p.N561H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	561	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N561H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTTTCAACATTTATACACTGT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											95.0	97.0	96.0					1																	120437279		2203	4300	6503	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1681A>C	1.37:g.120437279T>G	ENSP00000358407:p.Asn561His		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.835697	0.50951	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.23754	1.89	5.25	1.53	0.23141	ADAM, cysteine-rich (2);	0.126274	0.35291	N	0.003313	T	0.28928	0.0718	M	0.75085	2.285	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.08806	-1.0704	10	0.87932	D	0	.	5.4014	0.16299	0.0:0.0899:0.3471:0.5629	.	561	Q9UKF2	ADA30_HUMAN	H	561	ENSP00000358407:N561H	ENSP00000358407:N561H	N	-	1	0	ADAM30	120238802	0.888000	0.30383	0.000000	0.03702	0.169000	0.22640	1.973000	0.40550	0.091000	0.17302	0.460000	0.39030	AAT		0.373	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1		NM_021794	
ADRB2	154	hgsc.bcm.edu;ucsc.edu	37	5	148207202	148207202	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:148207202delA	ENST00000305988.4	+	1	1047	c.808delA	c.(808-810)aaafs	p.K270fs		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	270					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	GAAGGAGCACAAAGCCCTCAA	0.542																																																	0													103.0	92.0	95.0					5																	148207202		2203	4300	6503	SO:0001589	frameshift_variant	154			AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.808delA	5.37:g.148207202delA	ENSP00000305372:p.Lys270fs		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Frame_Shift_Del	DEL	ENST00000305988.4	37	CCDS4292.1																																																																																				0.542	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1		NM_000024	
AFAP1L1	134265	broad.mit.edu;hgsc.bcm.edu	37	5	148685923	148685923	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:148685923G>T	ENST00000296721.4	+	6	589	c.491G>T	c.(490-492)aGc>aTc	p.S164I	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.S164I|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	164						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S164I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCAGACAGCAGCTACCCT	0.567																																																	1	Substitution - Missense(1)	kidney(1)											62.0	51.0	55.0					5																	148685923		2203	4300	6503	SO:0001583	missense	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.491G>T	5.37:g.148685923G>T	ENSP00000296721:p.Ser164Ile		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088337	0.55968	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.48522	0.81;0.81	5.29	2.94	0.34122	.	0.245175	0.47093	D	0.000251	T	0.52075	0.1712	L	0.54323	1.7	0.33092	D	0.538027	P;P;D	0.53885	0.483;0.612;0.963	P;B;P	0.53809	0.452;0.347;0.735	T	0.64753	-0.6333	10	0.87932	D	0	-11.9745	9.2198	0.37370	0.2631:0.0:0.7369:0.0	.	164;164;164	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	I	164	ENSP00000296721:S164I;ENSP00000424427:S164I	ENSP00000296721:S164I	S	+	2	0	AFAP1L1	148666116	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.150000	0.42254	0.578000	0.29487	0.561000	0.74099	AGC		0.567	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1		NM_152406	
ALDOB	229	broad.mit.edu;ucsc.edu	37	9	104192184	104192184	+	Silent	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr9:104192184G>A	ENST00000374855.4	-	3	301	c.177C>T	c.(175-177)ttC>ttT	p.F59F	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	59					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.F59F(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGATTTCTCGGAACTGCCGGC	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											137.0	133.0	134.0					9																	104192184		2203	4300	6503	SO:0001819	synonymous_variant	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.177C>T	9.37:g.104192184G>A			Q13741|Q13742|Q5T7D6	Silent	SNP	ENST00000374855.4	37	CCDS6756.1																																																																																				0.557	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			
ANKS3	124401	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4780097	4780097	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr16:4780097C>A	ENST00000304283.4	-	3	348	c.54G>T	c.(52-54)ttG>ttT	p.L18F	ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000592711.1_Missense_Mutation_p.L18F|ANKS3_ENST00000585773.1_Intron|RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000446014.2_5'UTR	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	18								p.L18F(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCCACATGGACAAGCTGCGGT	0.587																																																	1	Substitution - Missense(1)	kidney(1)											82.0	69.0	73.0					16																	4780097		2197	4300	6497	SO:0001583	missense	124401			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.54G>T	16.37:g.4780097C>A	ENSP00000304586:p.Leu18Phe		B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753375	0.69648	.	.	ENSG00000168096	ENST00000304283	T	0.45668	0.89	5.82	2.51	0.30379	.	0.000000	0.64402	D	0.000001	T	0.46386	0.1390	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43114	-0.9411	10	0.87932	D	0	-4.783	6.4426	0.21859	0.1331:0.6004:0.0:0.2666	.	18	Q6ZW76	ANKS3_HUMAN	F	18	ENSP00000304586:L18F	ENSP00000304586:L18F	L	-	3	2	ANKS3	4720098	0.969000	0.33509	0.996000	0.52242	0.957000	0.61999	0.142000	0.16096	0.813000	0.34350	-0.291000	0.09656	TTG		0.587	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3		NM_133450	
ARHGAP28	79822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	6870684	6870684	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr18:6870684A>C	ENST00000383472.4	+	7	1011	c.907A>C	c.(907-909)Aat>Cat	p.N303H	ARHGAP28_ENST00000418986.1_Missense_Mutation_p.N144H|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.N144H|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.N144H|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.N139H|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.N303H|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.N251H|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.N126H			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	303					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.N144H(1)|p.N303H(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TCTAAAAAGAAATAAACTTAA	0.348																																																	2	Substitution - Missense(2)	kidney(2)											69.0	80.0	76.0					18																	6870684		2203	4300	6503	SO:0001583	missense	79822			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.907A>C	18.37:g.6870684A>C	ENSP00000372964:p.Asn303His		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37		.	.	.	.	.	.	.	.	.	.	A	13.96	2.392948	0.42410	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08102	3.28;3.23;3.2;3.2;3.2;3.13	5.22	-0.498	0.12019	.	0.717151	0.14447	N	0.319022	T	0.11196	0.0273	L	0.40543	1.245	0.09310	N	1	P;P;P;P	0.47841	0.694;0.901;0.88;0.574	B;P;P;P	0.46110	0.126;0.497;0.504;0.504	T	0.17531	-1.0366	10	0.66056	D	0.02	.	16.2644	0.82568	0.3954:0.6046:0.0:0.0	.	303;135;144;251	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	H	303;251;144;139;144;144;135;126	ENSP00000382963:N303H;ENSP00000262227:N251H;ENSP00000392660:N144H;ENSP00000437262:N139H;ENSP00000313506:N144H;ENSP00000406907:N144H	ENSP00000262227:N251H	N	+	1	0	ARHGAP28	6860684	0.980000	0.34600	0.424000	0.26647	0.967000	0.64934	1.458000	0.35223	-0.226000	0.09899	-1.243000	0.01532	AAT		0.348	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3		XM_371108	
ARHGEF25	115557	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58004440	58004440	+	5'Flank	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr12:58004440G>T	ENST00000286494.4	+	0	0				AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Nonsense_Mutation_p.E63*	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25							cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E63*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TCGCGAACATGAGGTCCTCGC	0.587																																																	1	Substitution - Nonsense(1)	kidney(1)											55.0	59.0	58.0					12																	58004440		1568	3582	5150	SO:0001631	upstream_gene_variant	115557				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516		12.37:g.58004440G>T	Exception_encountered		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Nonsense_Mutation	SNP	ENST00000286494.4	37	CCDS8947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.00|13.00	2.105853|2.105853	0.37145|0.37145	.|.	.|.	ENSG00000240771|ENSG00000240771	ENST00000333972|ENST00000300189	.|.	.|.	.|.	2.97|2.97	2.97|2.97	0.34412|0.34412	.|.	.|.	.|.	.|.	.|.	.|T	.|0.46405	.|0.1391	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.49969	.|-0.8882	.|7	0.22706|0.59425	T|D	0.39|0.04	.|.	9.5683|9.5683	0.39411|0.39411	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1	.|Q96M35	.|.	X|I	63|1	.|.	ENSP00000335560:E63X|ENSP00000300189:M1I	E|M	+|+	1|3	0|0	ARHGEF25|ARHGEF25	56290707|56290707	0.968000|0.968000	0.33430|0.33430	0.703000|0.703000	0.30354|0.30354	0.140000|0.140000	0.21249|0.21249	4.296000|4.296000	0.59055|0.59055	1.681000|1.681000	0.50988|0.50988	0.305000|0.305000	0.20034|0.20034	GAG|ATG		0.587	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1		NM_133483	
ATP2A3	489	broad.mit.edu;hgsc.bcm.edu	37	17	3851044	3851044	+	Silent	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr17:3851044G>T	ENST00000352011.3	-	8	790	c.736C>A	c.(736-738)Cgg>Agg	p.R246R	ATP2A3_ENST00000359983.3_Silent_p.R246R|ATP2A3_ENST00000397035.3_Silent_p.R246R|ATP2A3_ENST00000397041.3_Silent_p.R246R|ATP2A3_ENST00000309890.7_Silent_p.R246R|ATP2A3_ENST00000397043.3_Silent_p.R246R|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	246					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.R246R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGCGGCGTCCGCTCGGGCTCG	0.652																																					GBM(32;29 774 15719 37967)												1	Substitution - coding silent(1)	kidney(1)											27.0	29.0	28.0					17																	3851044		2197	4276	6473	SO:0001819	synonymous_variant	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.736C>A	17.37:g.3851044G>T			A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																				0.652	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1		NM_174953	
BRDT	676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	92470112	92470112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:92470112G>T	ENST00000362005.3	+	18	2948	c.2530G>T	c.(2530-2532)Gaa>Taa	p.E844*	BRDT_ENST00000370389.2_Nonsense_Mutation_p.E771*|BRDT_ENST00000394530.3_Nonsense_Mutation_p.E798*|BRDT_ENST00000399546.2_Nonsense_Mutation_p.E844*|BRDT_ENST00000402388.1_Nonsense_Mutation_p.E844*	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	844					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.E844*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TCGGACACAGGAACTCATACG	0.393																																																	1	Substitution - Nonsense(1)	kidney(1)											84.0	91.0	89.0					1																	92470112		2203	4300	6503	SO:0001587	stop_gained	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2530G>T	1.37:g.92470112G>T	ENSP00000354568:p.Glu844*		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Nonsense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	40	8.339149	0.98767	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	.	.	.	5.49	5.49	0.81192	.	0.000000	0.52532	D	0.000069	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-26.5443	18.1405	0.89638	0.0:0.0:1.0:0.0	.	.	.	.	X	844;771;844;798;844	.	ENSP00000354568:E844X	E	+	1	0	BRDT	92242700	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	5.942000	0.70203	2.579000	0.87056	0.484000	0.47621	GAA		0.393	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2		NM_207189	
EDRF1	26098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	127426983	127426983	+	Silent	SNP	A	A	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr10:127426983A>T	ENST00000356792.4	+	15	2182	c.1950A>T	c.(1948-1950)ctA>ctT	p.L650L	C10orf137_ENST00000337623.3_Silent_p.L616L	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		650					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L616L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCGAGGGGCTAGAGAAGCAGA	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											59.0	66.0	64.0					10																	127426983		2203	4300	6503	SO:0001819	synonymous_variant	26098																														ENST00000356792.4:c.1950A>T	10.37:g.127426983A>T			B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	CCDS55733.1																																																																																				0.443	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			
NUTM1	256646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	34647722	34647722	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr15:34647722G>T	ENST00000333756.4	+	7	1584	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	NUTM1_ENST00000537011.1_Nonsense_Mutation_p.E505*|NUTM1_ENST00000438749.3_Nonsense_Mutation_p.E495*	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	477						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E477*(1)									CTTGGAAGAGGAGGAAGATGC	0.532																																																	1	Substitution - Nonsense(1)	kidney(1)											82.0	87.0	85.0					15																	34647722		2201	4298	6499	SO:0001587	stop_gained	256646			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1429G>T	15.37:g.34647722G>T	ENSP00000329448:p.Glu477*		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Nonsense_Mutation	SNP	ENST00000333756.4	37	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	39	7.351681	0.98231	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	.	.	.	4.68	4.68	0.58851	.	0.106621	0.41500	D	0.000862	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	13.0788	0.59100	0.0:0.0:1.0:0.0	.	.	.	.	X	505;495;346;477	.	ENSP00000329448:E477X	E	+	1	0	C15orf55	32435014	1.000000	0.71417	0.997000	0.53966	0.353000	0.29299	1.006000	0.29847	2.165000	0.68154	0.655000	0.94253	GAG		0.532	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1		NM_175741	
C5orf22	55322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	31538433	31538433	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:31538433C>G	ENST00000325366.9	+	4	571	c.444C>G	c.(442-444)aaC>aaG	p.N148K	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	148								p.N148K(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AGCTAGAGAACCAAAAACCTT	0.348																																																	1	Substitution - Missense(1)	kidney(1)											83.0	84.0	84.0					5																	31538433		2203	4300	6503	SO:0001583	missense	55322			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.444C>G	5.37:g.31538433C>G	ENSP00000326879:p.Asn148Lys		Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.691948	0.68271	.	.	ENSG00000082213	ENST00000325366	T	0.43688	0.94	5.99	4.23	0.50019	.	0.122237	0.85682	D	0.000000	T	0.55305	0.1912	M	0.75264	2.295	0.80722	D	1	D	0.54601	0.967	P	0.54759	0.76	T	0.58803	-0.7572	10	0.72032	D	0.01	-18.0067	10.8249	0.46627	0.0:0.7496:0.0:0.2504	.	148	Q49AR2	CE022_HUMAN	K	148	ENSP00000326879:N148K	ENSP00000326879:N148K	N	+	3	2	C5orf22	31574190	0.951000	0.32395	0.983000	0.44433	0.977000	0.68977	1.752000	0.38349	0.883000	0.36040	-0.140000	0.14226	AAC		0.348	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2		NM_018356	
CCDC40	55036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78013722	78013722	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr17:78013722G>C	ENST00000397545.4	+	3	232	c.205G>C	c.(205-207)Gtg>Ctg	p.V69L	CCDC40_ENST00000269318.5_Missense_Mutation_p.V69L|CCDC40_ENST00000374876.4_Missense_Mutation_p.V69L|CCDC40_ENST00000374877.3_Missense_Mutation_p.V69L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	69					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.V69L(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			Agagggggaggtggagacaga	0.507																																																	2	Substitution - Missense(2)	kidney(2)											55.0	59.0	58.0					17																	78013722		2016	4177	6193	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.205G>C	17.37:g.78013722G>C	ENSP00000380679:p.Val69Leu		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	5.928	0.355194	0.11239	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.84589	0.79;-1.87;0.79;0.83	3.16	-2.49	0.06403	.	.	.	.	.	T	0.65995	0.2745	N	0.19112	0.55	0.09310	N	1	B;B	0.28850	0.225;0.028	B;B	0.26969	0.075;0.006	T	0.53121	-0.8483	9	0.23891	T	0.37	.	0.4191	0.00453	0.3439:0.1833:0.2867:0.1862	.	69;69	Q4G0X9-5;Q4G0X9	.;CCD40_HUMAN	L	69	ENSP00000364011:V69L;ENSP00000269318:V69L;ENSP00000364010:V69L;ENSP00000380679:V69L	ENSP00000269318:V69L	V	+	1	0	CCDC40	75628317	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.000000	0.12993	-0.469000	0.06911	-0.428000	0.05917	GTG		0.507	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2		XM_371082	
CDH8	1006	hgsc.bcm.edu	37	16	61851549	61851550	+	Frame_Shift_Ins	INS	-	-	C	rs80346989		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr16:61851549_61851550insC	ENST00000577390.1	-	7	2064_2065	c.1110_1111insG	c.(1108-1113)gggcccfs	p.P371fs	CDH8_ENST00000299345.6_Frame_Shift_Ins_p.P371fs|CDH8_ENST00000577730.1_Frame_Shift_Ins_p.P371fs|CDH8_ENST00000584337.1_Frame_Shift_Ins_p.P371fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	371	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTTTAAAGGGCCCCCTGCCAC	0.47																																																	0																																										SO:0001589	frameshift_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1111dupG	16.37:g.61851554_61851554dupC	ENSP00000462701:p.Pro371fs		B3KWC1|Q14DC6|Q9ULB2	Frame_Shift_Ins	INS	ENST00000577390.1	37	CCDS10802.1																																																																																				0.470	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3		NM_001796	
CDKAL1	54901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	20781422	20781422	+	Silent	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr6:20781422G>C	ENST00000378610.1	+	6	574	c.564G>C	c.(562-564)cgG>cgC	p.R188R	CDKAL1_ENST00000378624.4_Silent_p.R118R|RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000274695.4_Silent_p.R188R			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	188					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.R188R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			ATGGAAGGCGGCTTGGGGGAG	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											150.0	147.0	148.0					6																	20781422		2203	4300	6503	SO:0001819	synonymous_variant	54901			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.564G>C	6.37:g.20781422G>C			A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Silent	SNP	ENST00000378610.1	37	CCDS4546.1																																																																																				0.418	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1		NM_017774	
CELSR2	1952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109795801	109795801	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:109795801G>A	ENST00000271332.3	+	1	3161	c.3100G>A	c.(3100-3102)Gtc>Atc	p.V1034I		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1034	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V1034I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAACAACTATGTCACCAATCG	0.557																																					NSCLC(158;1285 2011 34800 34852 42084)												1	Substitution - Missense(1)	kidney(1)											88.0	87.0	87.0					1																	109795801		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3100G>A	1.37:g.109795801G>A	ENSP00000271332:p.Val1034Ile		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	13.40	2.225618	0.39300	.	.	ENSG00000143126	ENST00000271332	T	0.38077	1.16	5.16	5.16	0.70880	Cadherin-like (1);	.	.	.	.	T	0.13114	0.0318	N	0.25245	0.725	0.39996	D	0.975102	B	0.20988	0.05	B	0.27262	0.078	T	0.06320	-1.0833	9	0.20519	T	0.43	.	11.7995	0.52118	0.1249:0.0:0.8751:0.0	.	1034	Q9HCU4	CELR2_HUMAN	I	1034	ENSP00000271332:V1034I	ENSP00000271332:V1034I	V	+	1	0	CELSR2	109597324	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.087000	0.50167	2.706000	0.92434	0.650000	0.86243	GTC		0.557	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		NM_001408	
CHD2	1106	hgsc.bcm.edu	37	15	93545457	93545457	+	Silent	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr15:93545457G>A	ENST00000394196.4	+	33	5256	c.4188G>A	c.(4186-4188)gaG>gaA	p.E1396E	CHD2_ENST00000557381.1_Silent_p.E1396E	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1396					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			agaagaaagagaacaaggaga	0.343																																																	0													113.0	116.0	115.0					15																	93545457		2197	4298	6495	SO:0001819	synonymous_variant	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4188G>A	15.37:g.93545457G>A			C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	CCDS10374.2																																																																																				0.343	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271	
CHDH	55349	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	53853056	53853056	+	Silent	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr3:53853056C>A	ENST00000315251.6	-	8	1712	c.1275G>T	c.(1273-1275)ggG>ggT	p.G425G		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	425					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)	p.G425G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CCCGCATGGGCCCCACATGTA	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											131.0	113.0	119.0					3																	53853056		2203	4300	6503	SO:0001819	synonymous_variant	55349			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1275G>T	3.37:g.53853056C>A			Q9NY17	Silent	SNP	ENST00000315251.6	37	CCDS2873.1																																																																																				0.557	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2		NM_018397	
CHID1	66005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	869878	869878	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr11:869878A>T	ENST00000449825.1	-	13	1518	c.1162T>A	c.(1162-1164)Tac>Aac	p.Y388N	CHID1_ENST00000436108.2_Missense_Mutation_p.Y388N|CHID1_ENST00000336845.5_Missense_Mutation_p.Y413N|CHID1_ENST00000454838.2_Missense_Mutation_p.Y413N|CHID1_ENST00000323541.7_Missense_Mutation_p.Y418N|CHID1_ENST00000528581.1_Missense_Mutation_p.Y413N|CHID1_ENST00000429789.2_Missense_Mutation_p.Y357N|CHID1_ENST00000323578.8_Missense_Mutation_p.Y388N|CHID1_ENST00000526714.1_5'Flank	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	388					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)	p.Y388N(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		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;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TCGTAGAAGTAGTCCAGGCCC	0.622																																					Pancreas(117;992 2327 5172 41921)												1	Substitution - Missense(1)	kidney(1)											81.0	86.0	84.0					11																	869878		2203	4298	6501	SO:0001583	missense	66005			AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.1162T>A	11.37:g.869878A>T	ENSP00000391255:p.Tyr388Asn		B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	CCDS7722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.426208|4.426208	0.83667|0.83667	.|.	.|.	ENSG00000177830|ENSG00000177830	ENST00000529539|ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108	.|T;T;T;T;T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	4.45|4.45	4.45|4.45	0.53987|0.53987	.|Glycoside hydrolase, superfamily (1);	.|0.134095	.|0.51477	.|D	.|0.000084	T|T	0.57562|0.57562	0.2062|0.2062	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;0.999;0.989;0.999;0.999	T|T	0.60801|0.60801	-0.7191|-0.7191	5|10	.|0.35671	.|T	.|0.21	-27.5368|-27.5368	10.1129|10.1129	0.42574|0.42574	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|449;418;357;413;388	.|B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.|.;.;.;.;CHID1_HUMAN	Q|N	102|418;388;413;388;357;413;413;388	.|ENSP00000324821:Y418N;ENSP00000391255:Y388N;ENSP00000398722:Y413N;ENSP00000325055:Y388N;ENSP00000416034:Y357N;ENSP00000435503:Y413N;ENSP00000338838:Y413N;ENSP00000388156:Y388N	.|ENSP00000324821:Y418N	L|Y	-|-	2|1	0|0	CHID1|CHID1	859878|859878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	6.511000|6.511000	0.73733|0.73733	1.643000|1.643000	0.50594|0.50594	0.379000|0.379000	0.24179|0.24179	CTA|TAC		0.622	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1		NM_023947	
CHMP1B	57132	hgsc.bcm.edu	37	18	11851738	11851739	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr18:11851738_11851739insG	ENST00000526991.2	+	1	344_345	c.228_229insG	c.(229-231)gccfs	p.A77fs	GNAL_ENST00000423027.3_Intron|RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000535121.1_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	77					cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|lung(1)|urinary_tract(1)	3						ATGCAGTGGCTGCCAGGGTCCA	0.545																																																	0																																										SO:0001589	frameshift_variant	57132			AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"""Charged multivesicular body proteins"""	24287	protein-coding gene	gene with protein product		606486	"""chromatin modifying protein 1B"""			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	ENST00000526991.2:c.229dupG	18.37:g.11851739_11851739dupG	ENSP00000432279:p.Ala77fs		Q96E89|Q9HD41	Frame_Shift_Ins	INS	ENST00000526991.2	37	CCDS54180.1																																																																																				0.545	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386375.2		NM_020412	
CPEB4	80315	hgsc.bcm.edu;ucsc.edu	37	5	173316872	173316874	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:173316872_173316874delAAT	ENST00000265085.5	+	1	1590_1592	c.136_138delAAT	c.(136-138)aatdel	p.N48del	CPEB4_ENST00000334035.5_In_Frame_Del_p.N48del|CPEB4_ENST00000519835.1_In_Frame_Del_p.N48del|CPEB4_ENST00000520867.1_In_Frame_Del_p.N48del	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	48					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTTTATAAATAATAACACAG	0.478																																																	0										0,4254		0,0,2127						4.4	1.0			112	4,8242		1,2,4120	no	coding	CPEB4	NM_030627.2		1,2,6247	A1A1,A1R,RR		0.0485,0.0,0.032				4,12496				SO:0001651	inframe_deletion	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.136_138delAAT	5.37:g.173316875_173316877delAAT	ENSP00000265085:p.Asn48del		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	In_Frame_Del	DEL	ENST00000265085.5	37	CCDS4390.1																																																																																				0.478	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2		NM_030627	
CSF3R	1441	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36932909	36932909	+	Silent	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:36932909C>T	ENST00000373106.1	-	16	2509	c.1962G>A	c.(1960-1962)agG>agA	p.R654R	CSF3R_ENST00000440588.2_Silent_p.R654R|CSF3R_ENST00000373103.1_Silent_p.R654R|CSF3R_ENST00000418048.2_Silent_p.R654R|CSF3R_ENST00000331941.5_Silent_p.R654R|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Silent_p.R654R|MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000338937.5_Missense_Mutation_p.G623E|CSF3R_ENST00000373104.1_Silent_p.R654R	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	654					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R654R(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGGATTCTTCCTGCTGGAGA	0.602																																																	2	Substitution - coding silent(2)	kidney(2)											94.0	103.0	100.0					1																	36932909		2203	4300	6503	SO:0001819	synonymous_variant	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1962G>A	1.37:g.36932909C>T				Silent	SNP	ENST00000373106.1	37	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035769	0.54896	.	.	ENSG00000119535	ENST00000464465;ENST00000338937	T	0.29655	1.56	5.41	1.23	0.21249	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.27191	N	0.960429	B	0.17667	0.023	B	0.14578	0.011	T	0.28427	-1.0044	8	0.22706	T	0.39	-15.6958	7.7975	0.29156	0.0:0.6401:0.0:0.3599	.	623	E1B6W6	.	E	206;623	ENSP00000345013:G623E	ENSP00000345013:G623E	G	-	2	0	CSF3R	36705496	1.000000	0.71417	0.998000	0.56505	0.660000	0.38997	1.038000	0.30254	-0.022000	0.13986	-0.345000	0.07892	GGA		0.602	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2		NM_156039	
CST11	140880	hgsc.bcm.edu;ucsc.edu	37	20	23432483	23432484	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr20:23432483_23432484insT	ENST00000377009.3	-	2	335_336	c.302_303insA	c.(301-303)aacfs	p.N101fs	CST11_ENST00000377007.3_Intron	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	101					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGGGGACACAGTTCGTGGTCTC	0.52																																																	0																																										SO:0001589	frameshift_variant	140880			AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.303dupA	20.37:g.23432485_23432485dupT	ENSP00000366208:p.Asn101fs		Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Frame_Shift_Ins	INS	ENST00000377009.3	37	CCDS13155.1																																																																																				0.520	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1		NM_130794	
CTSE	1510	hgsc.bcm.edu;ucsc.edu	37	1	206320203	206320203	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:206320203delA	ENST00000358184.2	+	4	464	c.346delA	c.(346-348)acgfs	p.T116fs	CTSE_ENST00000361052.3_Frame_Shift_Del_p.T116fs|CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000360218.2_Frame_Shift_Del_p.T116fs|CTSE_ENST00000432969.2_Frame_Shift_Del_p.T41fs	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	116					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTTTCCAGAGACGCACAGCAG	0.577																																																	0													114.0	101.0	106.0					1																	206320203		2203	4300	6503	SO:0001589	frameshift_variant	1510			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.346delA	1.37:g.206320203delA	ENSP00000350911:p.Thr116fs		Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Frame_Shift_Del	DEL	ENST00000358184.2	37	CCDS1462.1																																																																																				0.577	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1		NM_001910	
CYP1A2	1544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75042368	75042368	+	Missense_Mutation	SNP	G	G	A	rs545726003		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr15:75042368G>A	ENST00000343932.4	+	2	352	c.289G>A	c.(289-291)Gcc>Acc	p.A97T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	97					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.A97T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CATCCGGCAGGCCCTGGTGCG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18260	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	kidney(1)											46.0	42.0	44.0					15																	75042368		2197	4294	6491	SO:0001583	missense	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.289G>A	15.37:g.75042368G>A	ENSP00000342007:p.Ala97Thr		Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577878	0.96565	.	.	ENSG00000140505	ENST00000343932	T	0.70749	-0.51	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.90967	0.7160	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94714	0.7895	10	0.87932	D	0	.	18.1026	0.89510	0.0:0.0:1.0:0.0	.	97	P05177-2	.	T	97	ENSP00000342007:A97T	ENSP00000342007:A97T	A	+	1	0	CYP1A2	72829421	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.325000	0.96381	2.499000	0.84300	0.561000	0.74099	GCC		0.647	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2		NM_000761	
CYP4F12	66002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15784434	15784434	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr19:15784434C>T	ENST00000550308.1	+	2	475	c.95C>T	c.(94-96)gCc>gTc	p.A32V	CYP4F12_ENST00000324632.10_Missense_Mutation_p.A32V	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	32					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.A32V(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TGGCTACTCGCCCGCATCCTG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											81.0	88.0	85.0					19																	15784434		2200	4297	6497	SO:0001583	missense	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.95C>T	19.37:g.15784434C>T	ENSP00000448998:p.Ala32Val		E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	9.409	1.079898	0.20309	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.91996	-2.95;-2.95	2.46	1.42	0.22433	.	1.250510	0.06552	N	0.745260	D	0.89921	0.6855	M	0.66939	2.045	0.09310	N	1	P;B;B	0.35307	0.494;0.079;0.006	B;B;B	0.38803	0.282;0.061;0.014	T	0.76846	-0.2808	10	0.22109	T	0.4	.	5.018	0.14347	0.0:0.8271:0.0:0.1729	.	32;32;32	B4E2R2;B4E270;Q9HCS2	.;.;CP4FC_HUMAN	V	32	ENSP00000448998:A32V;ENSP00000321821:A32V	ENSP00000321821:A32V	A	+	2	0	CYP4F12	15645434	0.001000	0.12720	0.024000	0.17045	0.003000	0.03518	0.251000	0.18257	0.596000	0.29794	0.491000	0.48974	GCC		0.627	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			
DAPK2	23604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	64218210	64218210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr15:64218210C>A	ENST00000457488.1	-	8	772	c.742G>T	c.(742-744)Gag>Tag	p.E248*	DAPK2_ENST00000261891.3_Nonsense_Mutation_p.E248*|RP11-111E14.1_ENST00000558050.1_RNA|DAPK2_ENST00000558069.1_Nonsense_Mutation_p.E248*	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)	p.E248*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AAGAATTCCTCATCAAAGTCG	0.502																																																	1	Substitution - Nonsense(1)	kidney(1)											143.0	132.0	136.0					15																	64218210		2203	4300	6503	SO:0001587	stop_gained	23604			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.742G>T	15.37:g.64218210C>A	ENSP00000408277:p.Glu248*		E9JGM7|O75892|Q24JS1	Nonsense_Mutation	SNP	ENST00000457488.1	37	CCDS10188.1	.	.	.	.	.	.	.	.	.	.	C	38	7.021680	0.98010	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5507	0.91063	0.0:1.0:0.0:0.0	.	.	.	.	X	248	.	ENSP00000261891:E248X	E	-	1	0	DAPK2	62005263	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.818000	0.86416	2.620000	0.88729	0.563000	0.77884	GAG		0.502	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1		NM_014326	
DDX58	23586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	32480246	32480246	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr9:32480246A>T	ENST00000379883.2	-	12	1902	c.1745T>A	c.(1744-1746)aTt>aAt	p.I582N	DDX58_ENST00000379868.1_Missense_Mutation_p.I379N|DDX58_ENST00000379882.1_Missense_Mutation_p.I537N|DDX58_ENST00000545044.1_Missense_Mutation_p.I379N|DDX58_ENST00000542096.1_Missense_Mutation_p.I511N	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	582	Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.I582N(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ATCTTGCTCAATCTCATCGAA	0.433																																																	1	Substitution - Missense(1)	kidney(1)											151.0	133.0	139.0					9																	32480246		2203	4300	6503	SO:0001583	missense	23586			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1745T>A	9.37:g.32480246A>T	ENSP00000369213:p.Ile582Asn		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.848021	0.32699	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.67	-8.09	0.01090	.	0.460942	0.20431	N	0.092463	T	0.34106	0.0886	L	0.60455	1.87	0.19300	N	0.99997	P;P;P;P	0.50943	0.925;0.94;0.801;0.667	B;B;B;B	0.43225	0.317;0.412;0.168;0.116	T	0.42599	-0.9442	10	0.23302	T	0.38	-0.1196	16.7214	0.85410	0.8966:0.0:0.1034:0.0	.	379;537;511;582	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	N	537;582;379;511;379	ENSP00000369212:I537N;ENSP00000369213:I582N;ENSP00000369197:I379N;ENSP00000442160:I511N;ENSP00000443055:I379N	ENSP00000369197:I379N	I	-	2	0	DDX58	32470246	0.000000	0.05858	0.004000	0.12327	0.908000	0.53690	-1.318000	0.02705	-1.718000	0.01383	-1.647000	0.00761	ATT		0.433	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1		NM_014314	
DHX35	60625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	37630475	37630476	+	Missense_Mutation	DNP	TA	TA	AT			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr20:37630475_37630476TA>AT	ENST00000252011.3	+	9	778_779	c.745_746TA>AT	c.(745-747)TAt>ATt	p.Y249I	DHX35_ENST00000373325.2_Missense_Mutation_p.Y249I|DHX35_ENST00000373323.4_Missense_Mutation_p.Y218I	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	249					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.Y249N(1)|p.Y249F(1)|p.Y249>?(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GGATATCTTTTATCTACAAAGG	0.391																																																	3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	60625			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	Exception_encountered	20.37:g.37630475_37630476delinsAT	ENSP00000252011:p.Tyr249Ile		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	CCDS13310.1																																																																																				0.391	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2		NM_021931	
DNAH11	8701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	21904264	21904264	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr7:21904264A>C	ENST00000409508.3	+	70	11516	c.11485A>C	c.(11485-11487)Agt>Cgt	p.S3829R	DNAH11_ENST00000328843.6_Missense_Mutation_p.S3836R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3836					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S3836R(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAGTCATGGAGTGCTATCAA	0.363									Kartagener syndrome																																								1	Substitution - Missense(1)	kidney(1)											137.0	129.0	132.0					7																	21904264		1852	4099	5951	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11485A>C	7.37:g.21904264A>C	ENSP00000475939:p.Ser3829Arg		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	A	15.63	2.889069	0.52014	.	.	ENSG00000105877	ENST00000328843	T	0.08546	3.08	5.22	5.22	0.72569	Dynein heavy chain (1);	0.099716	0.64402	D	0.000002	T	0.22085	0.0532	.	.	.	0.49798	D	0.999825	D	0.89917	1.0	D	0.76071	0.987	T	0.04551	-1.0943	9	0.16896	T	0.51	.	15.0947	0.72223	1.0:0.0:0.0:0.0	.	3836	Q96DT5	DYH11_HUMAN	R	3836	ENSP00000330671:S3836R	ENSP00000330671:S3836R	S	+	1	0	DNAH11	21870789	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	5.064000	0.64338	1.965000	0.57142	0.482000	0.46254	AGT		0.363	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777	
DNAH2	146754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7661862	7661862	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr17:7661862A>T	ENST00000572933.1	+	14	3561	c.2101A>T	c.(2101-2103)Att>Ttt	p.I701F	DNAH2_ENST00000389173.2_Missense_Mutation_p.I701F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	701	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I701F(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAAAGAGCGTATTCGGCTCCT	0.537																																																	1	Substitution - Missense(1)	kidney(1)											127.0	125.0	126.0					17																	7661862		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2101A>T	17.37:g.7661862A>T	ENSP00000458355:p.Ile701Phe		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.006127	0.93287	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.57907	0.37	5.91	5.91	0.95273	Dynein heavy chain, domain-1 (1);	0.057497	0.64402	D	0.000002	T	0.75459	0.3852	M	0.86028	2.79	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.79642	-0.1718	10	0.72032	D	0.01	.	15.3298	0.74200	1.0:0.0:0.0:0.0	.	701	Q9P225	DYH2_HUMAN	F	701	ENSP00000373825:I701F	ENSP00000353818:I701F	I	+	1	0	DNAH2	7602587	1.000000	0.71417	0.866000	0.34008	0.921000	0.55340	8.207000	0.89746	2.266000	0.75297	0.454000	0.30748	ATT		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877	
DOCK8	81704	hgsc.bcm.edu;ucsc.edu	37	9	418160	418160	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr9:418160delG	ENST00000453981.1	+	30	3905	c.3793delG	c.(3793-3795)gggfs	p.G1265fs	DOCK8_ENST00000382329.1_Frame_Shift_Del_p.G732fs|DOCK8_ENST00000432829.2_Frame_Shift_Del_p.G1197fs|DOCK8_ENST00000469391.1_Frame_Shift_Del_p.G1165fs			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1265					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGCCATAGCAGGGAATAATTT	0.448																																																	0													253.0	243.0	246.0					9																	418160		2203	4300	6503	SO:0001589	frameshift_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3793delG	9.37:g.418160delG	ENSP00000408464:p.Gly1265fs		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Frame_Shift_Del	DEL	ENST00000453981.1	37	CCDS6440.2																																																																																				0.448	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307	
DRD5	1816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	9784959	9784959	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr4:9784959C>A	ENST00000304374.2	+	1	1702	c.1306C>A	c.(1306-1308)Cgc>Agc	p.R436S		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	436					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.R436S(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCCTTTCGATCGCATGTTCCA	0.557																																																	1	Substitution - Missense(1)	kidney(1)											75.0	68.0	71.0					4																	9784959		2203	4300	6503	SO:0001583	missense	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1306C>A	4.37:g.9784959C>A	ENSP00000306129:p.Arg436Ser		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	3.460	-0.110166	0.06924	.	.	ENSG00000169676	ENST00000304374	T	0.65549	-0.16	4.53	2.59	0.31030	.	0.584500	0.15361	N	0.266384	T	0.55832	0.1945	M	0.66939	2.045	0.09310	N	0.999999	B	0.33583	0.418	B	0.32624	0.149	T	0.46091	-0.9216	10	0.32370	T	0.25	.	8.7358	0.34528	0.2122:0.6581:0.1297:0.0	.	436	P21918	DRD5_HUMAN	S	436	ENSP00000306129:R436S	ENSP00000306129:R436S	R	+	1	0	DRD5	9394057	0.105000	0.21958	0.001000	0.08648	0.032000	0.12392	0.714000	0.25808	1.115000	0.41800	-0.515000	0.04445	CGC		0.557	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			
DZIP1	22873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	96238362	96238362	+	Silent	SNP	T	T	C	rs181395665		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr13:96238362T>C	ENST00000376829.2	-	21	3098	c.2247A>G	c.(2245-2247)aaA>aaG	p.K749K	DZIP1_ENST00000361396.2_Silent_p.K730K|DZIP1_ENST00000347108.3_Silent_p.K749K|DZIP1_ENST00000361156.3_Silent_p.K730K	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	749					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K730K(1)|p.K749K(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCTTTTCAACTTTTTCAGTAG	0.308													T|||	1	0.000199681	0.0	0.0	5008	,	,		17651	0.001		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	kidney(2)											127.0	122.0	123.0					13																	96238362		2202	4300	6502	SO:0001819	synonymous_variant	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2247A>G	13.37:g.96238362T>C			Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	CCDS9478.1																																																																																				0.308	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3		NM_014934	
EEFSEC	60678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	127983506	127983506	+	Missense_Mutation	SNP	C	C	T	rs142548867	byFrequency	TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr3:127983506C>T	ENST00000254730.6	+	4	722	c.668C>T	c.(667-669)cCg>cTg	p.P223L	EEFSEC_ENST00000483457.1_Intron	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	223					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.P223L(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCCTCGGGACCGTTCCTCATG	0.562													C|||	11	0.00219649	0.0	0.0014	5008	,	,		22144	0.0		0.0	False		,,,				2504	0.0102																1	Substitution - Missense(1)	kidney(1)						C	LEU/PRO	0,4406		0,0,2203	196.0	170.0	179.0		668	4.2	0.9	3	dbSNP_134	179	5,8595	4.3+/-15.6	0,5,4295	yes	missense	EEFSEC	NM_021937.3	98	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	223/597	127983506	5,13001	2203	4300	6503	SO:0001583	missense	60678				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.668C>T	3.37:g.127983506C>T	ENSP00000254730:p.Pro223Leu		Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	CCDS33849.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.28	3.350052	0.61183	0.0	5.81E-4	ENSG00000132394	ENST00000254730	T	0.50277	0.75	5.08	4.21	0.49690	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.223006	0.47093	D	0.000260	T	0.49184	0.1542	M	0.72479	2.2	0.80722	D	1	D	0.54964	0.969	P	0.45232	0.474	T	0.54708	-0.8253	10	0.72032	D	0.01	.	9.6893	0.40118	0.1475:0.7764:0.0:0.0761	.	223	P57772	SELB_HUMAN	L	223	ENSP00000254730:P223L	ENSP00000254730:P223L	P	+	2	0	EEFSEC	129466196	0.886000	0.30341	0.874000	0.34290	0.809000	0.45718	3.459000	0.53021	1.159000	0.42565	-0.191000	0.12829	CCG		0.562	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2		NM_021937	
EPN2	22905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	19186485	19186485	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr17:19186485C>T	ENST00000314728.5	+	3	537	c.53C>T	c.(52-54)tCa>tTa	p.S18L	EPN2_ENST00000347697.2_Missense_Mutation_p.S18L|EPN2_ENST00000395620.2_Missense_Mutation_p.S18L|EPN2_ENST00000395626.1_Missense_Mutation_p.S18L|EPN2_ENST00000571254.1_Missense_Mutation_p.S18L|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000395618.3_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	18	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.S18L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AACAATTACTCAGAGGCAGAA	0.463																																																	1	Substitution - Missense(1)	kidney(1)											70.0	75.0	73.0					17																	19186485		2203	4300	6503	SO:0001583	missense	22905			AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.53C>T	17.37:g.19186485C>T	ENSP00000320543:p.Ser18Leu		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	C	35	5.470715	0.96274	.	.	ENSG00000072134	ENST00000347697;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.77	5.77	0.91146	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.111338	0.64402	D	0.000005	T	0.80444	0.4624	H	0.96048	3.76	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.968;0.996;0.999;1.0;0.994	D	0.86047	0.1523	10	0.87932	D	0	-16.7255	19.9873	0.97353	0.0:1.0:0.0:0.0	.	18;18;18;18;18;18	Q52LD0;B7ZKM5;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	L	18	ENSP00000261495:S18L;ENSP00000320543:S18L;ENSP00000378990:S18L;ENSP00000378982:S18L;ENSP00000378988:S18L	ENSP00000320543:S18L	S	+	2	0	EPN2	19127078	1.000000	0.71417	0.975000	0.42487	0.959000	0.62525	7.770000	0.85390	2.732000	0.93576	0.655000	0.94253	TCA		0.463	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3		NM_014964	
FGD5	152273	broad.mit.edu	37	3	14964675	14964675	+	Silent	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr3:14964675G>C	ENST00000285046.5	+	16	4040	c.3930G>C	c.(3928-3930)ctG>ctC	p.L1310L	FGD5_ENST00000543601.1_Silent_p.L1069L|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1310					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.L1310L(1)|p.L1069L(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCCGGGCCTGATGAGAGGTA	0.607																																																	2	Substitution - coding silent(2)	kidney(2)											23.0	25.0	24.0					3																	14964675		1952	4154	6106	SO:0001819	synonymous_variant	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3930G>C	3.37:g.14964675G>C			B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	CCDS46767.1																																																																																				0.607	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1		NM_152536	
FIZ1	84922	broad.mit.edu	37	19	56104632	56104632	+	Silent	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr19:56104632C>T	ENST00000221665.3	-	3	764	c.675G>A	c.(673-675)gtG>gtA	p.V225V		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	225					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)	p.V225V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TGAAGGGCTTCACGTCGGTGT	0.766																																																	1	Substitution - coding silent(1)	kidney(1)											5.0	6.0	5.0					19																	56104632		1148	2283	3431	SO:0001819	synonymous_variant	84922			AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.675G>A	19.37:g.56104632C>T			A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	37	CCDS12928.1																																																																																				0.766	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1		NM_032836	
FLNB	2317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	57994561	57994561	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr3:57994561G>C	ENST00000295956.4	+	1	435	c.270G>C	c.(268-270)gaG>gaC	p.E90D	FLNB_ENST00000490882.1_Missense_Mutation_p.E90D|FLNB_ENST00000358537.3_Missense_Mutation_p.E90D|FLNB_ENST00000357272.4_Missense_Mutation_p.E90D|FLNB_ENST00000348383.5_Missense_Mutation_p.E90D|FLNB_ENST00000429972.2_Missense_Mutation_p.E90D	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	90	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E90D(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGACCGTGAGAGCATCAAGC	0.667																																																	2	Substitution - Missense(2)	kidney(2)											97.0	102.0	100.0					3																	57994561		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.270G>C	3.37:g.57994561G>C	ENSP00000295956:p.Glu90Asp		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.381042	0.61845	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272	D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.34	3.53	0.40419	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.92583	0.7644	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.21905	0.028;0.062;0.035;0.035	B;B;B;B	0.35971	0.008;0.215;0.022;0.022	D	0.88990	0.3414	10	0.72032	D	0.01	.	10.6196	0.45472	0.1595:0.0:0.8405:0.0	.	90;90;90;90	O75369-2;B2ZZ83;Q60FE7;O75369	.;.;.;FLNB_HUMAN	D	90	ENSP00000295956:E90D;ENSP00000420213:E90D;ENSP00000351339:E90D;ENSP00000415599:E90D;ENSP00000232447:E90D;ENSP00000349819:E90D	ENSP00000295956:E90D	E	+	3	2	FLNB	57969601	1.000000	0.71417	0.979000	0.43373	0.928000	0.56348	1.764000	0.38471	0.627000	0.30340	-0.225000	0.12378	GAG		0.667	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1		NM_001457	
HELLS	3070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96350261	96350261	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr10:96350261A>C	ENST00000348459.5	+	14	1685	c.1580A>C	c.(1579-1581)gAa>gCa	p.E527A	HELLS_ENST00000371332.4_Missense_Mutation_p.E573A|HELLS_ENST00000394045.1_Missense_Mutation_p.E429A|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific									p.E527A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTCCCTAATGAATTGGAAAAA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											70.0	71.0	71.0					10																	96350261		2203	4299	6502	SO:0001583	missense	3070			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1580A>C	10.37:g.96350261A>C	ENSP00000239027:p.Glu527Ala			Missense_Mutation	SNP	ENST00000348459.5	37	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.755224	0.49362	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332	D;D;D	0.90069	-2.48;-2.09;-2.61	5.47	5.47	0.80525	SNF2-related (1);	0.103247	0.64402	D	0.000005	D	0.82986	0.5156	L	0.33245	0.995	0.80722	D	1	B;B;P;B;B	0.34864	0.061;0.074;0.473;0.035;0.202	B;B;B;B;B	0.35182	0.043;0.08;0.135;0.027;0.197	T	0.80632	-0.1296	10	0.23891	T	0.37	-22.2888	13.2905	0.60269	1.0:0.0:0.0:0.0	.	511;527;397;429;527	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	A	527;429;573	ENSP00000239027:E527A;ENSP00000377609:E429A;ENSP00000360383:E573A	ENSP00000239027:E527A	E	+	2	0	HELLS	96340251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.195000	0.58400	2.065000	0.61736	0.528000	0.53228	GAA		0.338	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1		NM_018063	
FOXI2	399823	broad.mit.edu;ucsc.edu	37	10	129536797	129536797	+	Silent	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr10:129536797C>T	ENST00000388920.4	+	2	564	c.525C>T	c.(523-525)taC>taT	p.Y175Y		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	175					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y175Y(1)		large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				AAGGCAATTACTGGACCCTGG	0.567																																					Esophageal Squamous(54;1038 1280 2528 31583)												1	Substitution - coding silent(1)	kidney(1)											40.0	41.0	40.0					10																	129536797		2202	4300	6502	SO:0001819	synonymous_variant	399823			AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"""Forkhead boxes"""	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.525C>T	10.37:g.129536797C>T				Silent	SNP	ENST00000388920.4	37	CCDS7655.2																																																																																				0.567	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2		NM_207426	
ITGAD	3681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31435255	31435255	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr16:31435255T>G	ENST00000389202.2	+	27	3184	c.3135T>G	c.(3133-3135)aaT>aaG	p.N1045K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1045					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.N1045K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGAAGGGCAATCTCAGTTTCG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											58.0	48.0	51.0					16																	31435255		2197	4300	6497	SO:0001583	missense	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.3135T>G	16.37:g.31435255T>G	ENSP00000373854:p.Asn1045Lys		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597949	0.46318	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.53640	0.61	4.89	3.94	0.45596	.	.	.	.	.	T	0.39306	0.1073	M	0.64997	1.995	0.36994	D	0.894926	P;P	0.40332	0.713;0.571	B;B	0.31442	0.13;0.13	T	0.49818	-0.8899	9	0.52906	T	0.07	.	9.139	0.36892	0.0:0.8975:0.0:0.1025	.	1061;1045	Q59H14;Q13349	.;ITAD_HUMAN	K	1061;1045	ENSP00000373854:N1045K	ENSP00000373854:N1045K	N	+	3	2	ITGAD	31342756	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	0.775000	0.26689	1.051000	0.40369	-0.230000	0.12252	AAT		0.637	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1		NM_005353	
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																																	0										1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2		NM_021614	
KIAA0430	9665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15711240	15711240	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr16:15711240G>C	ENST00000396368.3	-	14	3079	c.2873C>G	c.(2872-2874)tCc>tGc	p.S958C	KIAA0430_ENST00000540441.2_Missense_Mutation_p.S793C|KIAA0430_ENST00000548025.1_Missense_Mutation_p.S955C|KIAA0430_ENST00000344181.3_Missense_Mutation_p.S600C|KIAA0430_ENST00000602337.1_Missense_Mutation_p.S955C|KIAA0430_ENST00000551742.1_Missense_Mutation_p.S958C	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	958					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S958C(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GCAATTCGTGGAGGAGCCGTC	0.527																																																	1	Substitution - Missense(1)	kidney(1)											57.0	59.0	59.0					16																	15711240		1884	4102	5986	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2873C>G	16.37:g.15711240G>C	ENSP00000379654:p.Ser958Cys		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315488	0.81358	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	L	0.50333	1.59	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.995	T	0.77135	-0.2699	9	0.62326	D	0.03	.	19.3392	0.94335	0.0:0.0:1.0:0.0	.	957;955;954;957	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	C	958;793;957;600;955;958;778	.	ENSP00000315718:S957C	S	-	2	0	KIAA0430	15618741	1.000000	0.71417	0.960000	0.40013	0.995000	0.86356	9.143000	0.94623	2.568000	0.86640	0.561000	0.74099	TCC		0.527	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2		NM_014647	
KIF2A	3796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	61643911	61643911	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:61643911C>A	ENST00000401507.3	+	3	507	c.196C>A	c.(196-198)Ctt>Att	p.L66I	KIF2A_ENST00000407818.3_Missense_Mutation_p.L66I|KIF2A_ENST00000381103.2_Missense_Mutation_p.L46I|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Missense_Mutation_p.L39I	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	66	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L39I(1)|p.L66I(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TAACCCTGACCTTGTTCCTGA	0.378																																																	2	Substitution - Missense(2)	kidney(2)											141.0	139.0	140.0					5																	61643911		2203	4300	6503	SO:0001583	missense	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.196C>A	5.37:g.61643911C>A	ENSP00000385622:p.Leu66Ile		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	ENST00000401507.3	37	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028619	0.54790	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000514082;ENST00000407818;ENST00000512541;ENST00000506857	T;T;T;T;T;T	0.79554	-1.05;-1.11;1.41;-1.28;0.34;-1.03	5.36	5.36	0.76844	.	0.060403	0.64402	D	0.000004	T	0.78142	0.4237	L	0.37507	1.11	0.43919	D	0.996566	B;B;B;B	0.31879	0.344;0.337;0.005;0.227	B;B;B;B	0.42188	0.21;0.379;0.012;0.142	T	0.78191	-0.2300	10	0.56958	D	0.05	.	12.4441	0.55641	0.0:0.9232:0.0:0.0768	.	66;66;66;46	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	I	66;46;66;66;39;39	ENSP00000385622:L66I;ENSP00000370493:L46I;ENSP00000423542:L66I;ENSP00000385000:L66I;ENSP00000425411:L39I;ENSP00000423772:L39I	ENSP00000370493:L46I	L	+	1	0	KIF2A	61679668	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.446000	0.44908	2.522000	0.85027	0.460000	0.39030	CTT		0.378	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1		NM_004520	
KLK5	25818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51453328	51453328	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr19:51453328T>G	ENST00000336334.3	-	3	470	c.118A>C	c.(118-120)Aac>Cac	p.N40H	KLK5_ENST00000391809.2_Missense_Mutation_p.N40H|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000593428.1_Missense_Mutation_p.N40H|CTB-147C22.8_ENST00000594939.1_RNA	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	40				Missing (in Ref. 3; AAG33358). {ECO:0000305}.	epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.N40H(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGCACGGTGTTAGAGGGGTGG	0.632																																																	1	Substitution - Missense(1)	kidney(1)											45.0	43.0	44.0					19																	51453328		2203	4300	6503	SO:0001583	missense	25818			AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.118A>C	19.37:g.51453328T>G	ENSP00000337733:p.Asn40His		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	CCDS12810.1	.	.	.	.	.	.	.	.	.	.	t	8.744	0.919601	0.17982	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.88896	-2.44;-2.44	4.89	-2.96	0.05547	.	1.537520	0.04973	U	0.464264	T	0.72740	0.3498	N	0.14661	0.345	0.09310	N	1	P	0.39060	0.657	B	0.31614	0.133	T	0.65059	-0.6260	10	0.42905	T	0.14	.	0.9519	0.01378	0.2622:0.2794:0.2808:0.1777	.	40	Q9Y337	KLK5_HUMAN	H	40	ENSP00000337733:N40H;ENSP00000375685:N40H	ENSP00000337733:N40H	N	-	1	0	KLK5	56145140	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.100000	0.10990	-0.774000	0.04590	-1.910000	0.00522	AAC		0.632	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1		NM_012427	
KRT2	3849	hgsc.bcm.edu	37	12	53045840	53045840	+	Silent	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr12:53045840C>A	ENST00000309680.3	-	1	108	c.87G>T	c.(85-87)gtG>gtT	p.V29V		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	29	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTCCACCAGACACCACAGCTG	0.597																																																	0													34.0	37.0	36.0					12																	53045840		2203	4300	6503	SO:0001819	synonymous_variant	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.87G>T	12.37:g.53045840C>A			Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1																																																																																				0.597	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1		NM_000423	
LAMA5	3911	hgsc.bcm.edu	37	20	60902342	60902342	+	Missense_Mutation	SNP	C	C	G	rs371271948		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr20:60902342C>G	ENST00000252999.3	-	38	5125	c.5059G>C	c.(5059-5061)Gag>Cag	p.E1687Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1687	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.E1687Q(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGAAAGCCTCGGGCACAGCC	0.687																																																	1	Substitution - Missense(1)	kidney(1)											22.0	19.0	20.0					20																	60902342		2192	4295	6487	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5059G>C	20.37:g.60902342C>G	ENSP00000252999:p.Glu1687Gln		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251560	0.22880	.	.	ENSG00000130702	ENST00000252999	T	0.19250	2.16	5.17	4.2	0.49525	Laminin B type IV (1);	0.163369	0.52532	N	0.000074	T	0.16428	0.0395	L	0.40543	1.245	0.80722	D	1	B	0.23735	0.09	B	0.17433	0.018	T	0.05273	-1.0895	10	0.23302	T	0.38	.	10.836	0.46688	0.0:0.7948:0.1315:0.0737	.	1687	O15230	LAMA5_HUMAN	Q	1687	ENSP00000252999:E1687Q	ENSP00000252999:E1687Q	E	-	1	0	LAMA5	60335737	0.993000	0.37304	0.250000	0.24296	0.021000	0.10359	0.989000	0.29629	1.131000	0.42111	0.579000	0.79373	GAG		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560	
LIMA1	51474	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50571732	50571732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr12:50571732C>T	ENST00000341247.4	-	11	1544	c.1395G>A	c.(1393-1395)tgG>tgA	p.W465*	LIMA1_ENST00000552491.1_Nonsense_Mutation_p.W162*|LIMA1_ENST00000552823.1_Nonsense_Mutation_p.W305*|LIMA1_ENST00000547825.1_Nonsense_Mutation_p.W163*|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.W304*|LIMA1_ENST00000394943.3_Nonsense_Mutation_p.W466*|LIMA1_ENST00000552783.1_Nonsense_Mutation_p.W306*	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	465					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.W465*(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTTTGCTTGCCCATAGATCCT	0.458																																																	1	Substitution - Nonsense(1)	kidney(1)											176.0	174.0	175.0					12																	50571732		2203	4300	6503	SO:0001587	stop_gained	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1395G>A	12.37:g.50571732C>T	ENSP00000340184:p.Trp465*		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Nonsense_Mutation	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	36	5.957044	0.97145	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3435	19.8097	0.96542	0.0:1.0:0.0:0.0	.	.	.	.	X	162;163;305;466;465;306;304;384	.	ENSP00000340184:W465X	W	-	3	0	LIMA1	48857999	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.745000	0.94114	0.650000	0.86243	TGG		0.458	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2		NM_016357	
LINGO2	158038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	27949564	27949564	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr9:27949564C>T	ENST00000379992.2	-	6	1555	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q	LINGO2_ENST00000308675.3_Missense_Mutation_p.R369Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	369	LRRCT.					integral component of membrane (GO:0016021)		p.R369Q(4)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTGGGCTGTCGCTGCAAGAT	0.547																																																	4	Substitution - Missense(4)	prostate(2)|kidney(2)											40.0	38.0	38.0					9																	27949564		2203	4300	6503	SO:0001583	missense	158038			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1106G>A	9.37:g.27949564C>T	ENSP00000369328:p.Arg369Gln		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651762	0.67472	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58210	0.35;0.35	6.16	6.16	0.99307	Cysteine-rich flanking region, C-terminal (1);	0.050823	0.85682	D	0.000000	T	0.67692	0.2920	L	0.47190	1.495	0.58432	D	0.999996	D	0.89917	1.0	D	0.67103	0.949	T	0.60811	-0.7189	9	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	369	Q7L985	LIGO2_HUMAN	Q	369	ENSP00000369328:R369Q;ENSP00000310126:R369Q	.	R	-	2	0	LINGO2	27939564	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.694000	0.54742	2.937000	0.99478	0.650000	0.86243	CGA		0.547	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2		NM_152570	
MED15	51586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	20921042	20921042	+	Silent	SNP	T	T	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr22:20921042T>C	ENST00000263205.7	+	7	1048	c.979T>C	c.(979-981)Ttg>Ctg	p.L327L	MED15_ENST00000382974.2_Silent_p.L256L|MED15_ENST00000292733.7_Silent_p.L327L|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_Silent_p.L301L|MED15_ENST00000406969.1_Silent_p.L301L|MED15_ENST00000425759.2_Silent_p.L216L|MED15_ENST00000542773.1_Silent_p.L132L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	327	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.L327L(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GACCCAGCCTTTGGTGTCACA	0.582																																																	2	Substitution - coding silent(2)	kidney(2)											193.0	182.0	186.0					22																	20921042		2203	4300	6503	SO:0001819	synonymous_variant	51586			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.979T>C	22.37:g.20921042T>C			D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	ENST00000263205.7	37	CCDS33602.1																																																																																				0.582	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2		NM_015889	
C17orf50	146853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34093555	34093555	+	IGR	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr17:34093555G>A	ENST00000285023.4	+	0	1018					NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50									p.G508G(1)					Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATGCCAGCAGCCCATCCAGG	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											16.0	17.0	17.0					17																	34093555		1935	4094	6029	SO:0001628	intergenic_variant	79148			BC021727	CCDS42298.1	17q12	2014-05-06			ENSG00000154768	ENSG00000270806			29581	protein-coding gene	gene with protein product							Standard	NM_145272		Approved		uc002hjx.3	Q8WW18	OTTHUMG00000188389		17.37:g.34093555G>A			Q6Q621	Missense_Mutation	SNP	ENST00000285023.4	37	CCDS42298.1																																																																																				0.637	C17orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449132.1		NM_145272	
Unknown	0	broad.mit.edu	37	1	16974243	16974243	+	IGR	SNP	G	G	C	rs372123873		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:16974243G>C								CROCCP2 (13189 upstream) : RNU1-3 (19036 downstream)																							GATCTCAGCTGTCGCTCGGGG	0.652																																																	0																																										SO:0001628	intergenic_variant	11209																															1.37:g.16974243G>C				RNA	SNP		37																																																																																				0	0.652									
MUC20	200958	hgsc.bcm.edu	37	3	195453018	195453018	+	Frame_Shift_Del	DEL	C	C	-	rs144288174	byFrequency	TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr3:195453018delC	ENST00000447234.2	+	2	1670	c.1544delC	c.(1543-1545)gccfs	p.A515fs	MUC20_ENST00000320736.6_Frame_Shift_Del_p.A344fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.A480fs|MUC20_ENST00000436408.1_Frame_Shift_Del_p.A515fs	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	515	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)		p.T516fs*39(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GCACCCGGGGCCACGACCCTC	0.577													cc|CC|C|deletion	439	0.0876597	0.0295	0.1398	5008	,	,		26511	0.0377		0.169	False		,,,				2504	0.0971																2	Deletion - Frameshift(2)	large_intestine(2)							,	185,3935		1,183,1876	54.0	47.0	49.0		,	-0.7	0.0	3	dbSNP_134	54	1243,6833		18,1207,2813	no	frameshift,frameshift	MUC20	NM_152673.2,NM_001098516.1	,	19,1390,4689	A1A1,A1R,RR		15.3913,4.4903,11.7088	,	,	195453018	1428,10768	2136	4208	6344	SO:0001589	frameshift_variant	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1544delC	3.37:g.195453018delC	ENSP00000414350:p.Ala515fs		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Frame_Shift_Del	DEL	ENST00000447234.2	37																																																																																					0.577	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1		NM_152673	
MYLK	4638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	123451941	123451941	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr3:123451941T>G	ENST00000475616.1	-	8	1317	c.1318A>C	c.(1318-1320)Att>Ctt	p.I440L	MYLK_ENST00000360772.3_Missense_Mutation_p.I440L|MYLK_ENST00000359169.1_Missense_Mutation_p.I440L|MYLK_ENST00000360304.3_Missense_Mutation_p.I440L|MYLK_ENST00000346322.5_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase	440	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.I440L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGCTTTGGAATCCCGGAAACT	0.557																																																	1	Substitution - Missense(1)	kidney(1)											41.0	38.0	39.0					3																	123451941		2203	4300	6503	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1318A>C	3.37:g.123451941T>G	ENSP00000418335:p.Ile440Leu		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	T	4.882	0.163968	0.09287	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000475616	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.42	1.71	0.24356	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38665	0.1049	N	0.10916	0.065	0.09310	N	0.999999	B;B;B	0.17852	0.011;0.019;0.024	B;B;B	0.15484	0.008;0.008;0.013	T	0.20940	-1.0260	9	0.11485	T	0.65	.	3.6111	0.08061	0.1673:0.277:0.0:0.5558	.	440;440;440	Q15746-6;Q15746-3;Q15746	.;.;MYLK_HUMAN	L	440	ENSP00000354004:I440L;ENSP00000353452:I440L;ENSP00000352088:I440L;ENSP00000418335:I440L	ENSP00000352088:I440L	I	-	1	0	MYLK	124934631	0.999000	0.42202	0.434000	0.26772	0.691000	0.40173	0.952000	0.29149	0.165000	0.19558	0.533000	0.62120	ATT		0.557	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1		NM_053025	
NDUFA10	4705	broad.mit.edu	37	2	240960806	240960806	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:240960806C>A	ENST00000252711.2	-	3	368	c.268G>T	c.(268-270)Ggg>Tgg	p.G90W	NDUFA10_ENST00000404554.1_Missense_Mutation_p.G90W|NDUFA10_ENST00000307300.4_Missense_Mutation_p.G90W|NDUFA10_ENST00000407129.3_Missense_Mutation_p.G90W	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	90					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)	p.G90W(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		TAATGAATCCCCGCTTCAGGA	0.502											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											63.0	64.0	64.0					2																	240960806		2203	4300	6503	SO:0001583	missense	4705			AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.268G>T	2.37:g.240960806C>A	ENSP00000252711:p.Gly90Trp	2423	Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736262	0.69189	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000307300;ENST00000407129	D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91	4.25	4.25	0.50352	.	0.051143	0.85682	D	0.000000	D	0.96981	0.9014	M	0.66939	2.045	0.38977	D	0.958875	D;D;D;D	0.76494	0.999;0.999;0.995;0.996	D;D;P;P	0.74674	0.984;0.958;0.883;0.888	D	0.98104	1.0416	10	0.72032	D	0.01	-34.4922	14.939	0.70978	0.0:1.0:0.0:0.0	.	90;90;95;90	Q8WXC9;Q8N1B9;Q59FM0;O95299	.;.;.;NDUAA_HUMAN	W	90	ENSP00000252711:G90W;ENSP00000385697:G90W;ENSP00000411527:G90W;ENSP00000302321:G90W;ENSP00000383975:G90W	ENSP00000252711:G90W	G	-	1	0	NDUFA10	240609479	1.000000	0.71417	0.154000	0.22540	0.146000	0.21551	5.451000	0.66632	2.301000	0.77427	0.563000	0.77884	GGG		0.502	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2		NM_004544	
NINL	22981	hgsc.bcm.edu	37	20	25436414	25436421	+	Splice_Site	DEL	ATGTTCTT	ATGTTCTT	-	rs202186357		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	ATGTTCTT	ATGTTCTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr20:25436414_25436421delATGTTCTT	ENST00000278886.6	-	23	3918_3925	c.3845_3852delAAGAACAT	c.(3844-3852)gaagaacat>g	p.EEH1282fs	NINL_ENST00000422516.1_Splice_Site_p.EEH933fs|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1282					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTGTTTCTCATGTTCTTCCTGCCATAA	0.543																																																	0																																										SO:0001630	splice_region_variant	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3844-1AAGAACAT>-	20.37:g.25436414_25436421delATGTTCTT			A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Frame_Shift_Del	DEL	ENST00000278886.6	37	CCDS33452.1																																																																																				0.543	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3		NM_025176	Frame_Shift_Del
NLRP4	147945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56370366	56370366	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr19:56370366A>G	ENST00000301295.6	+	3	2029	c.1607A>G	c.(1606-1608)aAg>aGg	p.K536R	NLRP4_ENST00000346986.5_Missense_Mutation_p.K536R|NLRP4_ENST00000587891.1_Missense_Mutation_p.K461R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	536					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.K536R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CAGTGCCTGAAGAGCTTAGGG	0.453																																																	1	Substitution - Missense(1)	kidney(1)											73.0	78.0	76.0					19																	56370366		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1607A>G	19.37:g.56370366A>G	ENSP00000301295:p.Lys536Arg		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.713639	0.30413	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.92199	-2.99;-2.99	3.48	-0.97	0.10306	.	.	.	.	.	D	0.84297	0.5441	L	0.34521	1.04	0.09310	N	1	P;P;P	0.45283	0.57;0.855;0.773	B;B;B	0.38264	0.202;0.269;0.127	T	0.74453	-0.3660	9	0.49607	T	0.09	.	7.1982	0.25866	0.5301:0.0:0.4699:0.0	.	536;461;536	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	R	536	ENSP00000301295:K536R;ENSP00000344787:K536R	ENSP00000301295:K536R	K	+	2	0	NLRP4	61062178	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.211000	0.17474	-0.306000	0.08818	0.402000	0.26972	AAG		0.453	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		NM_134444	
NSMAF	8439	broad.mit.edu;hgsc.bcm.edu	37	8	59514096	59514096	+	Splice_Site	SNP	T	T	C	rs112233809		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr8:59514096T>C	ENST00000038176.3	-	15	1338		c.e15-2		NSMAF_ENST00000519858.1_Splice_Site|NSMAF_ENST00000427130.2_Splice_Site	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.?(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GTAGCGTGTCTAGAATACAGA	0.338																																																	2	Unknown(2)	kidney(2)											36.0	37.0	37.0					8																	59514096		2203	4300	6503	SO:0001630	splice_region_variant	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1126-2A>G	8.37:g.59514096T>C			B4DFB0|E9PCH0|Q8IW26	Splice_Site	SNP	ENST00000038176.3	37	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304446	0.40795	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9185	0.41450	0.2621:0.0:0.0:0.7378	.	.	.	.	.	-1	.	.	.	-	.	.	NSMAF	59676650	1.000000	0.71417	0.031000	0.17742	0.063000	0.16089	7.985000	0.88162	2.174000	0.68829	0.533000	0.62120	.		0.338	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1		NM_003580	Intron
OPN1SW	611	broad.mit.edu;hgsc.bcm.edu	37	7	128413772	128413772	+	Silent	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr7:128413772G>T	ENST00000249389.2	-	4	857	c.858C>A	c.(856-858)acC>acA	p.T286T		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	286					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)	p.T286T(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ATGAAGGAATGGTGACAAGCC	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											141.0	100.0	114.0					7																	128413772		2203	4300	6503	SO:0001819	synonymous_variant	611			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.858C>A	7.37:g.128413772G>T			Q13877	Silent	SNP	ENST00000249389.2	37	CCDS5806.1																																																																																				0.478	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1		NM_001708	
OTOF	9381	broad.mit.edu	37	2	26698885	26698885	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:26698885C>A	ENST00000272371.2	-	24	3014	c.2888G>T	c.(2887-2889)cGa>cTa	p.R963L	OTOF_ENST00000403946.3_Missense_Mutation_p.R963L|OTOF_ENST00000402415.3_Missense_Mutation_p.R273L|OTOF_ENST00000339598.3_Missense_Mutation_p.R216L|OTOF_ENST00000338581.6_Missense_Mutation_p.R216L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	963	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.R216L(1)|p.R273L(1)|p.R963L(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGTGCGCTCGGAGCTGGAA	0.642																																					GBM(102;732 1451 20652 24062 31372)												3	Substitution - Missense(3)	kidney(3)											42.0	38.0	39.0					2																	26698885		2201	4298	6499	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2888G>T	2.37:g.26698885C>A	ENSP00000272371:p.Arg963Leu		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885630	0.91814	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.41	4.52	0.55395	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83115	0.5184	M	0.86178	2.8	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.86031	0.1513	10	0.66056	D	0.02	-7.6335	15.1572	0.72752	0.1426:0.8574:0.0:0.0	.	963;216;273;216	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	L	216;216;273;963;963	ENSP00000345137:R216L;ENSP00000344521:R216L;ENSP00000383906:R273L;ENSP00000272371:R963L;ENSP00000385255:R963L	ENSP00000272371:R963L	R	-	2	0	OTOF	26552389	1.000000	0.71417	0.941000	0.38009	0.960000	0.62799	6.017000	0.70805	1.276000	0.44395	0.561000	0.74099	CGA		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			
PCDH1	5097	broad.mit.edu;hgsc.bcm.edu	37	5	141243175	141243175	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:141243175C>G	ENST00000394536.3	-	3	2860	c.2721G>C	c.(2719-2721)aaG>aaC	p.K907N	PCDH1_ENST00000456271.1_Missense_Mutation_p.K895N|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Missense_Mutation_p.K885N|PCDH1_ENST00000287008.3_Missense_Mutation_p.K907N	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	907					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K907N(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TTTTGTTTCCCTTGGAGGCCT	0.577																																					Ovarian(132;1609 1739 4190 14731 45037)												1	Substitution - Missense(1)	kidney(1)											91.0	93.0	92.0					5																	141243175		2203	4300	6503	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2721G>C	5.37:g.141243175C>G	ENSP00000378043:p.Lys907Asn		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	c	11.77	1.738418	0.30774	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.75	1.73	0.24493	Protocadherin (1);	0.000000	0.53938	D	0.000049	T	0.59972	0.2233	M	0.77103	2.36	0.53688	D	0.999978	D;D	0.64830	0.994;0.988	D;P	0.63703	0.917;0.796	T	0.58020	-0.7710	10	0.51188	T	0.08	.	5.7025	0.17891	0.0:0.6447:0.0:0.3553	.	907;907	Q08174;Q08174-2	PCDH1_HUMAN;.	N	907;907;895;918;885	ENSP00000287008:K907N;ENSP00000378043:K907N;ENSP00000403497:K895N;ENSP00000350122:K918N;ENSP00000438825:K885N	ENSP00000287008:K907N	K	-	3	2	PCDH1	141223359	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.442000	0.21628	0.603000	0.29913	0.457000	0.33378	AAG		0.577	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1		NM_032420	
PCDH7	5099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	31144197	31144197	+	Missense_Mutation	SNP	C	C	T	rs374867601		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr4:31144197C>T	ENST00000543491.1	+	3	3494	c.3494C>T	c.(3493-3495)cCg>cTg	p.P1165L				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1110L(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CGCACTTCTCCGGAGAGGAAG	0.562																																																	1	Substitution - Missense(1)	kidney(1)						C	LEU/PRO,LEU/PRO	0,4034		0,0,2017	91.0	90.0	91.0		3494,3470	5.9	1.0	4		91	1,8399		0,1,4199	no	missense,missense	PCDH7	NM_001173523.1,NM_032457.3	98,98	0,1,6216	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging	1165/1256,1157/1248	31144197	1,12433	2017	4200	6217	SO:0001583	missense	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3494C>T	4.37:g.31144197C>T	ENSP00000441802:p.Pro1165Leu		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000543491.1	37	CCDS54753.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382876	0.82792	0.0	1.19E-4	ENSG00000169851	ENST00000543491;ENST00000333135	T	0.60424	0.19	5.86	5.86	0.93980	.	.	.	.	.	T	0.78136	0.4236	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78391	-0.2222	9	0.87932	D	0	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	1165;1110	F5GWJ1;O60245-3	.;.	L	1165;1110	ENSP00000441802:P1165L	ENSP00000330302:P1110L	P	+	2	0	PCDH7	30753295	1.000000	0.71417	0.969000	0.41365	0.862000	0.49288	7.445000	0.80570	2.937000	0.99478	0.650000	0.86243	CCG		0.562	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_032457, NM_002589	
PJA1	64219	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	68382325	68382325	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chrX:68382325C>G	ENST00000361478.1	-	2	1134	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Missense_Mutation_p.E198Q|PJA1_ENST00000374583.1_Missense_Mutation_p.E253Q|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	253					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E253Q(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ACCACAGGTTCCTCTGCACTC	0.483																																																	1	Substitution - Missense(1)	kidney(1)											63.0	55.0	58.0					X																	68382325		2203	4300	6503	SO:0001583	missense	64219			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.757G>C	X.37:g.68382325C>G	ENSP00000355014:p.Glu253Gln		A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	c	11.17	1.560616	0.27827	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.05925	3.37;3.37;3.37	3.26	2.39	0.29439	.	0.000000	0.51477	U	0.000088	T	0.15435	0.0372	M	0.62723	1.935	0.18873	N	0.999989	D	0.69078	0.997	P	0.60682	0.878	T	0.01940	-1.1243	10	0.87932	D	0	-4.5488	8.138	0.31067	0.0:0.8701:0.0:0.1299	.	253	Q8NG27	PJA1_HUMAN	Q	168;253;253;198	ENSP00000363711:E253Q;ENSP00000355014:E253Q;ENSP00000363699:E198Q	ENSP00000355014:E253Q	E	-	1	0	PJA1	68299050	1.000000	0.71417	0.035000	0.18076	0.433000	0.31745	4.523000	0.60545	0.792000	0.33850	0.536000	0.68110	GAA		0.483	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2		NM_145119	
PLD3	23646	broad.mit.edu;hgsc.bcm.edu	37	19	40873738	40873738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr19:40873738G>A	ENST00000409587.1	+	6	778	c.381G>A	c.(379-381)tgG>tgA	p.W127*	PLD3_ENST00000356508.5_Nonsense_Mutation_p.W127*|PLD3_ENST00000409419.1_Nonsense_Mutation_p.W127*|PLD3_ENST00000409735.4_Nonsense_Mutation_p.W127*|PLD3_ENST00000409281.1_Nonsense_Mutation_p.W127*			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	127					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)	p.W74*(1)|p.W127*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CCTTCTACTGGACCCTCACCA	0.677																																																	2	Substitution - Nonsense(2)	kidney(2)											47.0	38.0	41.0					19																	40873738		2199	4296	6495	SO:0001587	stop_gained	23646			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.381G>A	19.37:g.40873738G>A	ENSP00000387050:p.Trp127*		Q92853|Q9BW87	Nonsense_Mutation	SNP	ENST00000409587.1	37	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	G	38	7.002070	0.97994	.	.	ENSG00000105223	ENST00000392032;ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281;ENST00000359274	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5252	17.4515	0.87593	0.0:0.0:1.0:0.0	.	.	.	.	X	127;127;127;127;108;127;127;127	.	ENSP00000348901:W127X	W	+	3	0	PLD3	45565578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.371000	0.73119	2.714000	0.92807	0.563000	0.77884	TGG		0.677	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1		NM_012268	
POM121	9883	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	72413614	72413614	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr7:72413614C>G	ENST00000434423.2	+	11	3082	c.3082C>G	c.(3082-3084)Cct>Gct	p.P1028A	POM121_ENST00000446813.1_Missense_Mutation_p.P763A|POM121_ENST00000257622.4_Missense_Mutation_p.P763A|POM121_ENST00000395270.1_Missense_Mutation_p.P763A|POM121_ENST00000358357.3_Missense_Mutation_p.P763A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1028	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.P763A(2)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCCATCCATCCTATCTTTGG	0.632																																																	2	Substitution - Missense(2)	kidney(2)											95.0	92.0	93.0					7																	72413614		2203	4300	6503	SO:0001583	missense	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3082C>G	7.37:g.72413614C>G	ENSP00000405562:p.Pro1028Ala		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37		.	.	.	.	.	.	.	.	.	.	C	11.32	1.604536	0.28623	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.11385	2.78;2.92;2.78;2.92;3.11	1.46	1.46	0.22682	.	.	.	.	.	T	0.24084	0.0583	M	0.72894	2.215	0.09310	N	1	D;D	0.76494	0.999;0.995	D;D	0.80764	0.994;0.942	T	0.13415	-1.0510	9	0.22706	T	0.39	.	5.4374	0.16488	0.0:0.8023:0.0:0.1977	.	763;1028	A8MXF9;Q96HA1	.;P121A_HUMAN	A	763;763;763;763;1028	ENSP00000393020:P763A;ENSP00000257622:P763A;ENSP00000378687:P763A;ENSP00000351124:P763A;ENSP00000405562:P1028A	ENSP00000257622:P763A	P	+	1	0	POM121	72051550	0.032000	0.19561	0.002000	0.10522	0.005000	0.04900	0.615000	0.24329	0.787000	0.33731	0.173000	0.16961	CCT		0.632	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			
POMP	51371	broad.mit.edu;hgsc.bcm.edu	37	13	29238707	29238707	+	Splice_Site	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr13:29238707G>T	ENST00000380842.4	+	3	243		c.e3+1		POMP_ENST00000460403.1_Splice_Site	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein						proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.?(1)		endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		AGAAAAAAATGTAAGTATATT	0.244																																																	1	Unknown(1)	kidney(1)											29.0	32.0	31.0					13																	29238707		2192	4281	6473	SO:0001630	splice_region_variant	51371			AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"""proteassemblin"""	613386	"""chromosome 13 open reading frame 12"""	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.162+1G>T	13.37:g.29238707G>T			A5HKJ2|D6MXU3|Q9HB69	Splice_Site	SNP	ENST00000380842.4	37	CCDS9331.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058821	0.76074	.	.	ENSG00000132963	ENST00000380842	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1187	0.86696	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POMP	28136707	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	8.006000	0.88564	2.776000	0.95493	0.655000	0.94253	.		0.244	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044327.1		NM_015932	Intron
PRKCQ	5588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	6520965	6520965	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr10:6520965A>C	ENST00000263125.5	-	12	1441	c.1342T>G	c.(1342-1344)Ttc>Gtc	p.F448V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.F448V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.F323V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	448	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.F448V(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TTGGTCTGGAATGTACAAAAC	0.507																																					Ovarian(50;572 1126 10530 25349 30594)												1	Substitution - Missense(1)	kidney(1)											219.0	184.0	196.0					10																	6520965		2203	4300	6503	SO:0001583	missense	5588			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1342T>G	10.37:g.6520965A>C	ENSP00000263125:p.Phe448Val		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.12|17.12	3.307707|3.307707	0.60305|0.60305	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722|ENST00000397178	T;T;T|.	0.66995|.	-0.24;-0.24;-0.24|.	4.76|4.76	4.76|4.76	0.60689|0.60689	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74520|0.74520	0.3727|0.3727	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.97110|.	0.999;1.0;0.981;1.0|.	T|T	0.76236|0.76236	-0.3033|-0.3033	10|5	0.87932|.	D|.	0|.	.|.	14.2585|14.2585	0.66067|0.66067	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	323;220;448;448|.	B4DF52;Q5JUN8;Q04759-2;Q04759|.	.;.;.;KPCT_HUMAN|.	V|Q	448;448;323|220	ENSP00000263125:F448V;ENSP00000380361:F448V;ENSP00000441752:F323V|.	ENSP00000263125:F448V|.	F|H	-|-	1|3	0|2	PRKCQ|PRKCQ	6560971|6560971	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.208000|0.208000	0.24298|0.24298	9.154000|9.154000	0.94694|0.94694	1.904000|1.904000	0.55121|0.55121	0.482000|0.482000	0.46254|0.46254	TTC|CAT		0.507	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1		NM_006257	
PRSS54	221191	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	58314590	58314590	+	Silent	SNP	G	G	A	rs368704231		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr16:58314590G>A	ENST00000219301.4	-	7	1120	c.726C>T	c.(724-726)aaC>aaT	p.N242N	PRSS54_ENST00000567164.1_Silent_p.N242N|PRSS54_ENST00000543437.1_Silent_p.N143N|CCDC113_ENST00000219299.4_3'UTR|CCDC113_ENST00000443128.2_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	242	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.N242N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CACCACCGAAGTTCAGGACTC	0.552																																																	1	Substitution - coding silent(1)	kidney(1)						G	,,	0,4396		0,0,2198	66.0	63.0	64.0		726,,	-2.4	0.0	16		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,utr-3	CCDC113,PRSS54	NM_001080492.1,NM_001142302.1,NM_014157.3	,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,	242/396,,	58314590	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	221191			AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.726C>T	16.37:g.58314590G>A			Q96LN9|Q9NT77	Silent	SNP	ENST00000219301.4	37	CCDS32463.1																																																																																				0.552	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1		NM_001080492	
PTPRS	5802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	5244419	5244419	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr19:5244419C>A	ENST00000587303.1	-	10	1162	c.1063G>T	c.(1063-1065)Ggc>Tgc	p.G355C	PTPRS_ENST00000372412.4_Missense_Mutation_p.G356C|PTPRS_ENST00000348075.2_Missense_Mutation_p.G342C|PTPRS_ENST00000588012.1_Missense_Mutation_p.G342C|PTPRS_ENST00000592099.1_Missense_Mutation_p.G342C|PTPRS_ENST00000357368.4_Missense_Mutation_p.G355C|PTPRS_ENST00000353284.2_Missense_Mutation_p.G342C|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.G351C			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	355	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G355C(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TCTGGGTTGCCCGAGTCCCAC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											127.0	115.0	119.0					19																	5244419		2203	4300	6503	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1063G>T	19.37:g.5244419C>A	ENSP00000467537:p.Gly355Cys		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127211	0.77549	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	3.87	3.87	0.44632	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000003	T	0.77089	0.4079	M	0.90019	3.08	0.47476	D	0.999437	D;B;D;D;D;B	0.89917	1.0;0.193;1.0;1.0;1.0;0.421	D;B;D;D;D;B	0.97110	0.996;0.127;0.957;0.999;1.0;0.233	D	0.83630	0.0144	10	0.72032	D	0.01	.	16.0207	0.80486	0.0:1.0:0.0:0.0	.	355;342;346;342;355;368	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	C	368;356;355;355;355;351;342;355;346;342	ENSP00000361489:G356C;ENSP00000349932:G355C;ENSP00000262963:G351C;ENSP00000269907:G342C;ENSP00000327313:G342C	ENSP00000262963:G351C	G	-	1	0	PTPRS	5195419	1.000000	0.71417	0.931000	0.37212	0.883000	0.51084	7.545000	0.82128	2.018000	0.59344	0.561000	0.74099	GGC		0.547	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			
RB1CC1	9821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	53554925	53554925	+	Silent	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr8:53554925G>A	ENST00000025008.5	-	18	4846	c.4323C>T	c.(4321-4323)agC>agT	p.S1441S	RB1CC1_ENST00000539297.1_Silent_p.S1441S|RB1CC1_ENST00000435644.2_Silent_p.S1441S|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1441					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.S1441S(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAGACATCATGCTTGTCTCCA	0.408																																					GBM(180;1701 2102 13475 42023 52570)												1	Substitution - coding silent(1)	kidney(1)											138.0	131.0	134.0					8																	53554925		2203	4300	6503	SO:0001819	synonymous_variant	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.4323C>T	8.37:g.53554925G>A			Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	CCDS34892.1																																																																																				0.408	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1		NM_014781	
ARHGEF28	64283	broad.mit.edu;ucsc.edu	37	5	73193844	73193844	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:73193844G>A	ENST00000426542.2	+	29	3919	c.3899G>A	c.(3898-3900)tGt>tAt	p.C1300Y	ARHGEF28_ENST00000296799.4_Missense_Mutation_p.C987Y|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.C1300Y|ARHGEF28_ENST00000287898.5_Intron|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.C1300Y|ARHGEF28_ENST00000512883.1_Intron|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.C1300Y|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.C1300Y			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1300	Interaction with PTK2/FAK1; required for regulation of axonal branching and synapse formation. {ECO:0000250}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.C1300Y(1)									AGTCAATCATGTGAGGACAGT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											79.0	78.0	79.0					5																	73193844		2088	4250	6338	SO:0001583	missense	0				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3899G>A	5.37:g.73193844G>A	ENSP00000412175:p.Cys1300Tyr		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	8.307	0.821326	0.16678	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T	0.08720	3.22;3.22;3.22;3.22;3.22;3.06	4.88	2.03	0.26663	.	3.968900	0.03963	U	0.290325	T	0.06234	0.0161	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.25955	0.003;0.138;0.0;0.004	B;B;B;B	0.16289	0.0;0.015;0.0;0.001	T	0.38628	-0.9652	10	0.52906	T	0.07	.	7.2589	0.26191	0.0:0.5645:0.3414:0.0941	.	987;1300;1300;1300	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	Y	1300;1300;1300;1300;1300;987	ENSP00000296794:C1300Y;ENSP00000441913:C1300Y;ENSP00000441436:C1300Y;ENSP00000411459:C1300Y;ENSP00000412175:C1300Y;ENSP00000296799:C987Y	ENSP00000296794:C1300Y	C	+	2	0	RP11-428C6.1	73229600	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	1.204000	0.32296	0.104000	0.17725	-0.353000	0.07706	TGT		0.458	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			
RLF	6018	hgsc.bcm.edu;ucsc.edu	37	1	40703457	40703458	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:40703457_40703458delAT	ENST00000372771.4	+	8	3110_3111	c.3083_3084delAT	c.(3082-3084)gatfs	p.D1028fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1028					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GAAGGTCTAGATCACAATATTC	0.411																																																	0																																										SO:0001589	frameshift_variant	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.3083_3084delAT	1.37:g.40703457_40703458delAT	ENSP00000361857:p.Asp1028fs		Q14CQ1|Q9NU60	Frame_Shift_Del	DEL	ENST00000372771.4	37	CCDS448.1																																																																																				0.411	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1		NM_012421	
RND1	27289	broad.mit.edu	37	12	49259538	49259538	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr12:49259538G>C	ENST00000309739.5	-	1	143	c.13C>G	c.(13-15)Cgg>Ggg	p.R5G		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	5					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)	p.R5G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TGGGGGGCCCGTCTCTCCTTC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											78.0	65.0	70.0					12																	49259538		2203	4300	6503	SO:0001583	missense	27289			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.13C>G	12.37:g.49259538G>C	ENSP00000308461:p.Arg5Gly		A8K9P7	Missense_Mutation	SNP	ENST00000309739.5	37	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613697	0.66672	.	.	ENSG00000172602	ENST00000309739	T	0.38887	1.11	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	N	0.08118	0	0.54753	D	0.999986	D	0.60160	0.987	D	0.65010	0.931	T	0.48222	-0.9054	10	0.87932	D	0	-0.3085	12.7694	0.57412	0.0:0.0:0.8358:0.1641	.	5	Q92730	RND1_HUMAN	G	5	ENSP00000308461:R5G	ENSP00000308461:R5G	R	-	1	2	RND1	47545805	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.983000	0.40648	2.800000	0.96347	0.650000	0.86243	CGG		0.587	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1		NM_014470	
RPA2	6118	broad.mit.edu	37	1	28240591	28240591	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:28240591G>T	ENST00000373912.3	-	2	399	c.100C>A	c.(100-102)Caa>Aaa	p.Q34K	RPA2_ENST00000313433.7_Missense_Mutation_p.Q122K|RPA2_ENST00000373909.3_Missense_Mutation_p.Q42K	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	34					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)	p.Q122K(1)|p.Q34K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTCGGCTTGAGAAGGTGCG	0.493								Direct reversal of damage;Nucleotide excision repair (NER)																																									2	Substitution - Missense(2)	kidney(2)											63.0	72.0	69.0					1																	28240591		2203	4300	6503	SO:0001583	missense	6118			BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.100C>A	1.37:g.28240591G>T	ENSP00000363021:p.Gln34Lys		Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	37	CCDS314.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880178	0.33162	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.22336	2.21;2.21;2.18;1.96	4.59	4.59	0.56863	.	0.054015	0.85682	D	0.000000	T	0.13543	0.0328	N	0.20401	0.57	0.51767	D	0.99993	B;B	0.30709	0.226;0.291	B;B	0.28465	0.057;0.09	T	0.08046	-1.0741	10	0.10636	T	0.68	-10.2065	16.5256	0.84330	0.0:0.0:1.0:0.0	.	34;42	P15927;P15927-2	RFA2_HUMAN;.	K	34;42;122;38	ENSP00000363021:Q34K;ENSP00000363017:Q42K;ENSP00000363015:Q122K;ENSP00000387649:Q38K	ENSP00000363015:Q122K	Q	-	1	0	RPA2	28113178	1.000000	0.71417	0.643000	0.29450	0.158000	0.22134	5.903000	0.69877	2.261000	0.74972	0.555000	0.69702	CAA		0.493	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1		NM_002946	
SETD1A	9739	broad.mit.edu;hgsc.bcm.edu	37	16	30990969	30990969	+	Missense_Mutation	SNP	C	C	A	rs147948503	byFrequency	TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr16:30990969C>A	ENST00000262519.8	+	14	4548	c.3862C>A	c.(3862-3864)Cgc>Agc	p.R1288S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1288					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R1288S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CGAGGCCGAGCGCCCTAGGCC	0.716																																																	1	Substitution - Missense(1)	kidney(1)											17.0	22.0	20.0					16																	30990969		2188	4270	6458	SO:0001583	missense	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3862C>A	16.37:g.30990969C>A	ENSP00000262519:p.Arg1288Ser		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	5.773	0.327062	0.10900	.	.	ENSG00000099381	ENST00000262519	D	0.94184	-3.37	4.96	3.94	0.45596	.	0.306242	0.30901	N	0.008652	D	0.85843	0.5791	L	0.27053	0.805	0.31274	N	0.691424	B	0.28350	0.208	B	0.26094	0.066	T	0.82912	-0.0222	10	0.52906	T	0.07	.	5.5367	0.17016	0.1985:0.7015:0.0:0.1	.	1288	O15047	SET1A_HUMAN	S	1288	ENSP00000262519:R1288S	ENSP00000262519:R1288S	R	+	1	0	SETD1A	30898470	0.003000	0.15002	0.247000	0.24249	0.019000	0.09904	-0.124000	0.10595	2.292000	0.77174	0.563000	0.77884	CGC		0.716	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2		NM_014712	
CLASRP	11129	broad.mit.edu	37	19	45562555	45562555	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr19:45562555C>A	ENST00000221455.3	+	8	741	c.643C>A	c.(643-645)Cag>Aag	p.Q215K	CLASRP_ENST00000544944.2_Missense_Mutation_p.Q215K|CLASRP_ENST00000391953.4_Missense_Mutation_p.Q153K	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	215					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.Q215K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TGAATTGAACCAGGAGCAGGT	0.602											OREG0025548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											145.0	104.0	118.0					19																	45562555		2203	4300	6503	SO:0001583	missense	0			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.643C>A	19.37:g.45562555C>A	ENSP00000221455:p.Gln215Lys	932	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036429	0.35893	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.41400	1.6;1.58;1.0;1.6	5.49	4.39	0.52855	.	0.000000	0.34178	U	0.004198	T	0.15912	0.0383	N	0.04508	-0.205	0.37880	D	0.930368	P;B;B	0.36837	0.571;0.024;0.007	B;B;B	0.30646	0.118;0.037;0.009	T	0.23190	-1.0195	10	0.05833	T	0.94	-30.4462	11.9108	0.52737	0.0:0.7035:0.2965:0.0	.	153;215;215	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	K	215;215;153;215	ENSP00000221455:Q215K;ENSP00000375814:Q215K;ENSP00000375815:Q153K;ENSP00000438702:Q215K	ENSP00000221455:Q215K	Q	+	1	0	CLASRP	50254395	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.768000	0.38511	2.592000	0.87571	0.650000	0.86243	CAG		0.602	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1		NM_007056	
SIRT7	51547	broad.mit.edu	37	17	79875994	79875994	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr17:79875994C>T	ENST00000328666.6	-	1	76	c.14G>A	c.(13-15)gGt>gAt	p.G5D		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	5					histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)	p.G5D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCGGCTCAGACCCCCGGCTGC	0.751																																																	1	Substitution - Missense(1)	kidney(1)											11.0	14.0	13.0					17																	79875994		1681	3531	5212	SO:0001583	missense	51547			AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.14G>A	17.37:g.79875994C>T	ENSP00000329466:p.Gly5Asp		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	ENST00000328666.6	37	CCDS11792.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407407	0.62399	.	.	ENSG00000187531	ENST00000328666	T	0.30981	1.51	3.58	2.59	0.31030	.	0.327108	0.27323	N	0.019889	T	0.17704	0.0425	N	0.22421	0.69	0.80722	D	1	B	0.28026	0.198	B	0.22386	0.039	T	0.05767	-1.0865	10	0.16896	T	0.51	-9.1852	11.4114	0.49927	0.1813:0.8187:0.0:0.0	.	5	Q9NRC8	SIRT7_HUMAN	D	5	ENSP00000329466:G5D	ENSP00000329466:G5D	G	-	2	0	SIRT7	77469286	0.952000	0.32445	0.976000	0.42696	0.535000	0.34838	1.531000	0.36018	0.691000	0.31592	0.430000	0.28490	GGT		0.751	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1		NM_016538	
SLC26A5	375611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	103033397	103033397	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr7:103033397T>G	ENST00000306312.3	-	10	1349	c.1088A>C	c.(1087-1089)aAt>aCt	p.N363T	SLC26A5_ENST00000393723.1_Missense_Mutation_p.N363T|SLC26A5_ENST00000393730.1_Missense_Mutation_p.N363T|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.N363T|SLC26A5_ENST00000393729.1_Missense_Mutation_p.N326T|SLC26A5_ENST00000432958.2_Missense_Mutation_p.N363T|SLC26A5_ENST00000339444.6_Missense_Mutation_p.N363T|SLC26A5_ENST00000393735.2_Missense_Mutation_p.N363T|SLC26A5_ENST00000356767.4_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	363					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.N363T(3)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCCATGTTTATTTGCTAAGGT	0.468																																																	3	Substitution - Missense(3)	kidney(3)											266.0	216.0	233.0					7																	103033397		2203	4300	6503	SO:0001583	missense	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1088A>C	7.37:g.103033397T>G	ENSP00000304783:p.Asn363Thr		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.862925	0.51482	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	5.74	3.21	0.36854	Sulphate transporter (1);	0.164301	0.53938	D	0.000053	T	0.78691	0.4323	N	0.02802	-0.49	0.80722	D	1	B;B;B;B	0.25235	0.008;0.121;0.048;0.048	B;B;B;B	0.27380	0.065;0.079;0.03;0.02	T	0.70189	-0.4940	10	0.20046	T	0.44	.	9.2638	0.37627	0.549:0.0:0.0:0.451	.	363;363;363;363	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	T	363;363;363;363;363;326;363;363	ENSP00000342396:N363T;ENSP00000377336:N363T;ENSP00000304783:N363T;ENSP00000377331:N363T;ENSP00000389733:N363T;ENSP00000377330:N326T;ENSP00000377328:N363T;ENSP00000377324:N363T	ENSP00000304783:N363T	N	-	2	0	SLC26A5	102820633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.430000	0.52807	0.973000	0.38340	0.533000	0.62120	AAT		0.468	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1		NM_198999	
SLC2A8	29988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130167742	130167742	+	Silent	SNP	A	A	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr9:130167742A>G	ENST00000373371.3	+	9	1283	c.1194A>G	c.(1192-1194)tcA>tcG	p.S398S	SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Silent_p.S135S	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	398					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)	p.S398S(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						TCCTCATGTCAGAGATCTTCC	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											89.0	76.0	80.0					9																	130167742		2203	4299	6502	SO:0001819	synonymous_variant	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1194A>G	9.37:g.130167742A>G			Q8WUZ9|Q9NSC4	Silent	SNP	ENST00000373371.3	37	CCDS6870.1																																																																																				0.627	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1		NM_014580	
SLC39A6	25800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	33694147	33694147	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr18:33694147C>T	ENST00000590986.1	-	7	2045	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	SLC39A6_ENST00000269187.5_Missense_Mutation_p.E586K|SLC39A6_ENST00000440549.2_Missense_Mutation_p.E311K			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	586					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.E586K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCTTTCAGCTCCTCCCGAGAg	0.512																																																	1	Substitution - Missense(1)	kidney(1)											131.0	135.0	134.0					18																	33694147		2176	4279	6455	SO:0001583	missense	25800			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1756G>A	18.37:g.33694147C>T	ENSP00000465915:p.Glu586Lys		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926537	0.92319	.	.	ENSG00000141424	ENST00000269187;ENST00000543723;ENST00000440549	T;T	0.48522	0.81;0.81	6.04	6.04	0.98038	.	0.326225	0.38778	N	0.001563	T	0.49915	0.1585	N	0.24115	0.695	0.47584	D	0.999466	B;P	0.37500	0.408;0.597	P;B	0.50270	0.636;0.325	T	0.33979	-0.9847	10	0.30078	T	0.28	-17.0379	18.0887	0.89466	0.0:1.0:0.0:0.0	.	586;311	Q13433;Q13433-2	S39A6_HUMAN;.	K	586;311;311	ENSP00000269187:E586K;ENSP00000401139:E311K	ENSP00000269187:E586K	E	-	1	0	SLC39A6	31948145	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.932000	0.56537	2.873000	0.98535	0.563000	0.77884	GAG		0.512	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			
SNX17	9784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27598997	27598997	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:27598997C>G	ENST00000233575.2	+	12	1351	c.1129C>G	c.(1129-1131)Cag>Gag	p.Q377E	SNX17_ENST00000543024.1_Missense_Mutation_p.Q163E|SNX17_ENST00000542478.1_Missense_Mutation_p.Q163E|SNX17_ENST00000537606.1_Missense_Mutation_p.Q352E|ZNF513_ENST00000491924.1_5'Flank	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	377	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)	p.Q377E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTGCTTGCAGTCCATGGT	0.522																																																	1	Substitution - Missense(1)	kidney(1)											140.0	127.0	132.0					2																	27598997		2203	4300	6503	SO:0001583	missense	9784			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1129C>G	2.37:g.27598997C>G	ENSP00000233575:p.Gln377Glu		B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099157	0.76983	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.46819	1.44;0.86;1.03;0.86	5.88	5.88	0.94601	.	0.094876	0.85682	D	0.000000	T	0.68302	0.2986	M	0.83483	2.645	0.80722	D	1	P;P;P;D	0.63880	0.675;0.868;0.787;0.993	B;P;B;P	0.58331	0.145;0.504;0.404;0.837	T	0.66921	-0.5801	10	0.35671	T	0.21	-16.7955	18.8043	0.92030	0.0:1.0:0.0:0.0	.	352;365;357;377	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	E	377;163;352;163	ENSP00000233575:Q377E;ENSP00000441779:Q163E;ENSP00000439208:Q352E;ENSP00000442567:Q163E	ENSP00000233575:Q377E	Q	+	1	0	SNX17	27452501	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	7.575000	0.82447	2.797000	0.96272	0.561000	0.74099	CAG		0.522	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1		NM_014748	
STON1	11037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	48809434	48809434	+	Silent	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:48809434G>A	ENST00000406226.1	+	3	1857	c.1662G>A	c.(1660-1662)caG>caA	p.Q554Q	STON1-GTF2A1L_ENST00000394751.3_Silent_p.Q554Q|STON1-GTF2A1L_ENST00000309827.2_Silent_p.Q554Q|STON1-GTF2A1L_ENST00000405008.1_Silent_p.Q554Q|STON1_ENST00000309835.3_Silent_p.Q554Q|STON1_ENST00000404752.1_Silent_p.Q554Q|STON1-GTF2A1L_ENST00000402114.2_Silent_p.Q554Q|STON1-GTF2A1L_ENST00000394754.1_Silent_p.Q554Q	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	554	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.Q554Q(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATTGGCGCAGAGGTCATCCT	0.483																																																	2	Substitution - coding silent(2)	kidney(2)											149.0	146.0	147.0					2																	48809434		2203	4300	6503	SO:0001819	synonymous_variant	286749			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1662G>A	2.37:g.48809434G>A			A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	CCDS1841.1																																																																																				0.483	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2		NM_006873	
TMBIM1	64114	broad.mit.edu	37	2	219146894	219146894	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:219146894G>T	ENST00000444881.1	-	0	696				TMBIM1_ENST00000445635.1_Intron|TMBIM1_ENST00000258412.3_De_novo_Start_InFrame|PNKD_ENST00000273077.4_Intron|PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000396809.2_De_novo_Start_InFrame			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1						negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAACCCCAGCTGCTGGGAC	0.647																																																	0													16.0	19.0	18.0					2																	219146894		2188	4286	6474			64114			BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105		2.37:g.219146894G>T			B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Translation_Start_Site	SNP	ENST00000444881.1	37	CCDS2412.1																																																																																				0.647	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338559.1		NM_022152	
TTLL4	9654	hgsc.bcm.edu	37	2	219602963	219602964	+	Frame_Shift_Ins	INS	-	-	G	rs151184805	byFrequency	TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:219602963_219602964insG	ENST00000392102.1	+	3	904_905	c.564_565insG	c.(565-567)gggfs	p.G189fs	TTLL4_ENST00000258398.4_Frame_Shift_Ins_p.G189fs|TTLL4_ENST00000442769.1_Frame_Shift_Ins_p.G189fs|TTLL4_ENST00000457313.1_Frame_Shift_Ins_p.G24fs	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	189					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGGCAGCGGCTGGGGAAAACCC	0.54																																					GBM(172;1818 2053 15407 20943 49753)												0																																										SO:0001589	frameshift_variant	9654				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.568dupG	2.37:g.219602967_219602967dupG	ENSP00000375951:p.Gly189fs		A8K6V5|Q8WW29	Frame_Shift_Ins	INS	ENST00000392102.1	37	CCDS2422.1																																																																																				0.540	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1		NM_014640	
TXLNB	167838	hgsc.bcm.edu;ucsc.edu	37	6	139583897	139583899	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr6:139583897_139583899delTGA	ENST00000358430.3	-	5	931_933	c.699_701delTCA	c.(697-702)cttcag>ctg	p.Q234del		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	234						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ACGTGCCCGCTGAAGCGCCTCTT	0.488																																																	0																																										SO:0001651	inframe_deletion	167838				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.699_701delTCA	6.37:g.139583897_139583899delTGA	ENSP00000351206:p.Gln234del		Q5VTF3|Q76L25|Q86T52|Q8N3S2	In_Frame_Del	DEL	ENST00000358430.3	37	CCDS34545.1																																																																																				0.488	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1		NM_153235	
UXT	8409	broad.mit.edu	37	X	47518230	47518230	+	Splice_Site	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chrX:47518230G>A	ENST00000333119.3	-	2	152	c.97C>T	c.(97-99)Cga>Tga	p.R33*	RP1-212G6.7_ENST00000591832.1_RNA|UXT_ENST00000460840.1_5'Flank|UXT_ENST00000335890.2_Splice_Site_p.R45*|RP1-212G6.7_ENST00000590504.1_RNA	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	33					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.R45*(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						GTCACTCACCGCAAGTCCCGC	0.647																																																	2	Substitution - Nonsense(2)	kidney(1)|central_nervous_system(1)											56.0	45.0	49.0					X																	47518230		2202	4299	6501	SO:0001630	splice_region_variant	8409			AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.98+1C>T	X.37:g.47518230G>A			B2R561|Q5JZG3|Q9Y6E5	Nonsense_Mutation	SNP	ENST00000333119.3	37	CCDS14285.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692618	0.88735	.	.	ENSG00000126756	ENST00000333119;ENST00000335890;ENST00000376964	.	.	.	4.97	-0.173	0.13322	.	0.708385	0.13586	N	0.376975	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	1.4284	12.7633	0.57378	0.0:0.0:0.3377:0.6623	.	.	.	.	X	33;45;33	.	ENSP00000327797:R33X	R	-	1	2	UXT	47403174	0.620000	0.27068	0.021000	0.16686	0.583000	0.36354	0.090000	0.15025	-0.296000	0.08947	-0.362000	0.07510	CGA		0.647	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056440.1		NM_153477	Nonsense_Mutation
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	IGR	INS	-	-	CC	rs555281269|rs112237068	byFrequency	TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr3:21447901_21447902insCC								AC104183.1 (17792 upstream) : RP11-180N14.1 (5811 downstream)																							CTGGCATACCACCCCCCACGCC	0.663														2183	0.435903	0.5038	0.3141	5008	,	,		12635	0.3998		0.503	False		,,,				2504	0.3988																0																																										SO:0001628	intergenic_variant	391518																															3.37:g.21447906_21447907dupCC				RNA	INS		37																																																																																				0	0.663									
VHL	7428	hgsc.bcm.edu	37	3	10183797	10183797	+	Missense_Mutation	SNP	T	T	A	rs5030807		TCGA-B8-5164-01A-01D-2099-10	TCGA-B8-5164-10A-01W-1476-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq	.		PacBio RS	4eaedfa1-0ea0-4c65-8151-246ee30d0281	5f407634-cb71-404f-83a5-92c695fbd62a	g.chr3:10183797T>A	ENST00000256474.2	+	1	1106	c.266T>A	c.(265-267)cTc>cAc	p.L89H	VHL_ENST00000345392.2_Missense_Mutation_p.L89H|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	89			L -> H (in lung cancer).|L -> P (in VHLD; type I; dbSNP:rs5030807). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L89H(11)|p.L89P(6)|p.L89R(3)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.L89fs*67(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGTATGGCTCAACTTCGAC	0.726	L89H(NCIH28_PLEURA)	1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	24	Substitution - Missense(20)|Deletion - Frameshift(3)|Complex - deletion inframe(1)	kidney(22)|pancreas(1)|pleura(1)	GRCh37	CM941368	VHL	M	rs5030807						13.0	16.0	15.0					3																	10183797		2106	4156	6262	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.266T>A	3.37:g.10183797T>A	ENSP00000256474:p.Leu89His		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.986585	0.93106	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99815	-6.9;-6.9	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.185584	0.46442	D	0.000292	D	0.99576	0.9847	L	0.41492	1.28	0.33129	D	0.542832	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.957	D	0.97755	1.0217	10	0.87932	D	0	-8.4916	12.8448	0.57823	0.0:0.0:0.0:1.0	.	89;89	P40337-2;P40337	.;VHL_HUMAN	H	89	ENSP00000256474:L89H;ENSP00000344757:L89H	ENSP00000256474:L89H	L	+	2	0	VHL	10158797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.914000	0.63348	1.920000	0.55613	0.450000	0.29827	CTC		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VWF	7450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6204658	6204658	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr12:6204658A>T	ENST00000261405.5	-	6	879	c.625T>A	c.(625-627)Tca>Aca	p.S209T	RN7SL69P_ENST00000468423.2_RNA|VWF_ENST00000572068.1_Missense_Mutation_p.S246T	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	209	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.S209T(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATGTTGCATGAGCTGCTGGGA	0.547																																																	1	Substitution - Missense(1)	kidney(1)											157.0	146.0	150.0					12																	6204658		2203	4300	6503	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.625T>A	12.37:g.6204658A>T	ENSP00000261405:p.Ser209Thr		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	A	3.975	-0.007627	0.07773	.	.	ENSG00000110799	ENST00000261405	T	0.35973	1.28	4.85	-8.44	0.00950	von Willebrand factor, type D domain (1);	1.182460	0.06473	N	0.731462	T	0.13114	0.0318	N	0.13140	0.3	0.09310	N	1	B;B;B	0.14438	0.001;0.008;0.01	B;B;B	0.13407	0.004;0.002;0.009	T	0.22173	-1.0224	10	0.11485	T	0.65	.	1.8483	0.03163	0.4685:0.0965:0.1446:0.2905	.	209;246;209	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	T	209	ENSP00000261405:S209T	ENSP00000261405:S209T	S	-	1	0	VWF	6074919	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.084000	0.11268	-1.250000	0.02497	-0.464000	0.05259	TCA		0.547	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		NM_000552	
WDR92	116143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	68384457	68384457	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:68384457G>C	ENST00000295121.6	-	1	235	c.119C>G	c.(118-120)gCa>gGa	p.A40G	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000406245.2_Intron|PNO1_ENST00000263657.2_5'Flank|WDR92_ENST00000492039.2_Intron|WDR92_ENST00000409164.1_Missense_Mutation_p.A40G	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	40					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)	p.A40G(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						GGTGCCCCGTGCGAAGTTGCC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											75.0	71.0	72.0					2																	68384457		2203	4300	6503	SO:0001583	missense	116143			AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.119C>G	2.37:g.68384457G>C	ENSP00000295121:p.Ala40Gly		Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.758030	0.89843	.	.	ENSG00000243667	ENST00000295121;ENST00000409164	T;T	0.73897	-0.79;-0.79	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.269485	0.29853	N	0.011023	T	0.78259	0.4255	M	0.80422	2.495	0.80722	D	1	B	0.28971	0.229	B	0.27380	0.079	T	0.77645	-0.2510	10	0.62326	D	0.03	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	40	Q96MX6	WDR92_HUMAN	G	40	ENSP00000295121:A40G;ENSP00000386746:A40G	ENSP00000295121:A40G	A	-	2	0	WDR92	68237961	1.000000	0.71417	0.995000	0.50966	1.000000	0.99986	6.818000	0.75257	2.666000	0.90696	0.655000	0.94253	GCA		0.602	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2		NM_138458	
XRCC5	7520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	217001838	217001838	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:217001838A>C	ENST00000392133.3	+	13	1602	c.1141A>C	c.(1141-1143)Att>Ctt	p.I381L	XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.I381L			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	381	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.I381L(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTCCTCCCTGATTCATGCTTT	0.408								Non-homologous end-joining																																									1	Substitution - Missense(1)	kidney(1)											195.0	174.0	181.0					2																	217001838		2203	4300	6503	SO:0001583	missense	7520			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1141A>C	2.37:g.217001838A>C	ENSP00000375978:p.Ile381Leu		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.975948	0.74360	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.28895	1.59;1.59	5.56	0.383	0.16239	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.334454	0.31936	N	0.006829	T	0.49643	0.1569	M	0.86740	2.835	0.49687	D	0.999818	B	0.21147	0.052	P	0.46685	0.524	T	0.43032	-0.9416	10	0.27785	T	0.31	.	9.7444	0.40437	0.6075:0.0:0.3925:0.0	.	381	P13010	XRCC5_HUMAN	L	381	ENSP00000375978:I381L;ENSP00000375977:I381L	ENSP00000375977:I381L	I	+	1	0	XRCC5	216710083	1.000000	0.71417	0.990000	0.47175	0.908000	0.53690	2.623000	0.46435	-0.154000	0.11118	0.533000	0.62120	ATT		0.408	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3		NM_021141	
XRN1	54464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	142098968	142098968	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr3:142098968T>A	ENST00000264951.4	-	23	2788	c.2671A>T	c.(2671-2673)Att>Ttt	p.I891F	XRN1_ENST00000392981.2_Missense_Mutation_p.I891F	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	891					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.I891F(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TCACATGGAATGCTGAAAATC	0.318																																																	1	Substitution - Missense(1)	kidney(1)											108.0	100.0	103.0					3																	142098968		2203	4300	6503	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2671A>T	3.37:g.142098968T>A	ENSP00000264951:p.Ile891Phe		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140908	0.77775	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.32515	1.46;1.45	5.37	5.37	0.77165	.	0.069713	0.64402	D	0.000008	T	0.41604	0.1166	L	0.47016	1.485	0.80722	D	1	B;D;D	0.54207	0.105;0.965;0.964	B;P;P	0.53401	0.034;0.725;0.535	T	0.31779	-0.9931	10	0.66056	D	0.02	-16.5846	15.3718	0.74570	0.0:0.0:0.0:1.0	.	752;891;891	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	F	891	ENSP00000264951:I891F;ENSP00000376707:I891F	ENSP00000264951:I891F	I	-	1	0	XRN1	143581658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.849000	0.55910	2.039000	0.60335	0.477000	0.44152	ATT		0.318	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2		NM_019001	
ZFYVE9	9372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	52703253	52703253	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:52703253G>C	ENST00000371591.1	+	3	295	c.164G>C	c.(163-165)aGt>aCt	p.S55T	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.S55T|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S55T	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	55					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.S55T(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ACTTTGGCCAGTGTGAATGAA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											85.0	83.0	84.0					1																	52703253		2203	4300	6503	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.164G>C	1.37:g.52703253G>C	ENSP00000360647:p.Ser55Thr		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485639	0.44147	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.55052	1.02;0.54;1.04;1.04	5.66	2.75	0.32379	.	0.308173	0.28130	N	0.016491	T	0.29061	0.0722	N	0.14661	0.345	0.21719	N	0.999577	B;B;P	0.38504	0.287;0.189;0.634	B;B;B	0.30495	0.085;0.039;0.116	T	0.15292	-1.0442	10	0.59425	D	0.04	.	8.4143	0.32662	0.4105:0.0:0.5895:0.0	.	55;55;55	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	T	55	ENSP00000349737:S55T;ENSP00000355358:S55T;ENSP00000287727:S55T;ENSP00000360647:S55T	ENSP00000287727:S55T	S	+	2	0	ZFYVE9	52475841	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.174000	0.31932	0.729000	0.32403	0.655000	0.94253	AGT		0.438	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1		NM_007324	
ZNFX1	57169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47887899	47887899	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr20:47887899T>G	ENST00000396105.1	-	3	696	c.450A>C	c.(448-450)gaA>gaC	p.E150D	ZNFX1_ENST00000371754.4_Missense_Mutation_p.E150D|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E150D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	150							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E150D(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAGAAGACTTTCTAAGAACT	0.493																																																	2	Substitution - Missense(2)	kidney(2)											110.0	117.0	115.0					20																	47887899		2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.450A>C	20.37:g.47887899T>G	ENSP00000379412:p.Glu150Asp		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820603	0.50633	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.97	3.36	0.38483	.	0.103017	0.64402	D	0.000006	T	0.71542	0.3352	M	0.61703	1.905	0.40442	D	0.980052	D	0.67145	0.996	P	0.58266	0.836	T	0.68603	-0.5365	10	0.41790	T	0.15	-18.252	7.4253	0.27096	0.0:0.2975:0.0:0.7025	.	150	Q9P2E3	ZNFX1_HUMAN	D	150	ENSP00000360819:E150D;ENSP00000360817:E150D;ENSP00000379412:E150D;ENSP00000360809:E150D	ENSP00000360809:E150D	E	-	3	2	ZNFX1	47321306	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.748000	0.26305	0.374000	0.24650	0.533000	0.62120	GAA		0.493	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2		NM_021035	
