#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
A4GNT	51146	broad.mit.edu;ucsc.edu	37	3	137843327	137843327	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:137843327A>C	ENST00000236709.3	-	3	1003	c.802T>G	c.(802-804)Tgg>Ggg	p.W268G		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	268					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.W268G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TAGCGCCTCCACTCTCGATAG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											87.0	85.0	86.0					3																	137843327		2203	4300	6503	SO:0001583	missense	51146			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.802T>G	3.37:g.137843327A>C	ENSP00000236709:p.Trp268Gly		Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.704080	0.68615	.	.	ENSG00000118017	ENST00000236709	T	0.73897	-0.79	5.31	5.31	0.75309	Alpha 1,4-glycosyltransferase domain (1);	0.000000	0.64402	D	0.000002	D	0.87954	0.6308	M	0.89478	3.035	0.52099	D	0.999943	D	0.89917	1.0	D	0.81914	0.995	D	0.90054	0.4151	10	0.62326	D	0.03	-16.8644	15.2592	0.73610	1.0:0.0:0.0:0.0	.	268	Q9UNA3	A4GCT_HUMAN	G	268	ENSP00000236709:W268G	ENSP00000236709:W268G	W	-	1	0	A4GNT	139326017	1.000000	0.71417	0.964000	0.40570	0.991000	0.79684	6.301000	0.72782	1.996000	0.58369	0.460000	0.39030	TGG		0.498	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1		NM_016161	
ABCG2	9429	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	89016750	89016750	+	Silent	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr4:89016750A>G	ENST00000237612.3	-	14	2204	c.1659T>C	c.(1657-1659)ggT>ggC	p.G553G	ABCG2_ENST00000515655.1_Splice_Site_p.V550A	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	553	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G553G(2)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TGACCAACAGACCTGAAAAAA	0.408																																																	2	Substitution - coding silent(2)	kidney(2)											122.0	99.0	107.0					4																	89016750		2203	4300	6503	SO:0001819	synonymous_variant	9429			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1659T>C	4.37:g.89016750A>G			A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603510	0.28534	.	.	ENSG00000118777	ENST00000515655	T	0.72282	-0.64	5.91	-3.31	0.04988	.	.	.	.	.	T	0.54902	0.1887	.	.	.	0.80722	D	1	P	0.42010	0.768	P	0.44772	0.46	T	0.53358	-0.8450	8	0.25751	T	0.34	-5.6603	1.6787	0.02827	0.2042:0.3515:0.2567:0.1876	.	550	Q9UNQ0-2	.	A	550	ENSP00000426917:V550A	ENSP00000426917:V550A	V	-	2	0	ABCG2	89235774	0.086000	0.21541	0.927000	0.36925	0.009000	0.06853	-0.591000	0.05753	-0.462000	0.06984	-1.219000	0.01604	GTC		0.408	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1		NM_004827	
ADAM32	203102	hgsc.bcm.edu;ucsc.edu	37	8	39103665	39103666	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr8:39103665_39103666insA	ENST00000379907.4	+	17	2009_2010	c.1882_1883insA	c.(1882-1884)caafs	p.Q628fs	ADAM32_ENST00000519315.1_Frame_Shift_Ins_p.Q522fs|ADAM32_ENST00000437682.2_Frame_Shift_Ins_p.Q529fs	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	628	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGTTTGTTCACAACAGTGTTCT	0.351																																																	0																																										SO:0001589	frameshift_variant	203102			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1884dupA	8.37:g.39103667_39103667dupA	ENSP00000369238:p.Gln628fs		Q8TC42	Frame_Shift_Ins	INS	ENST00000379907.4	37	CCDS47846.1																																																																																				0.351	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1		NM_145004	
ALB	213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	74283985	74283985	+	Missense_Mutation	SNP	A	A	G	rs77081291		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr4:74283985A>G	ENST00000503124.1	+	10	1366	c.1159A>G	c.(1159-1161)Ata>Gta	p.I387V	ALB_ENST00000401494.3_Missense_Mutation_p.I422V|ALB_ENST00000415165.2_Missense_Mutation_p.I345V|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000295897.4_Missense_Mutation_p.I537V|ALB_ENST00000509063.1_Missense_Mutation_p.I537V			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.I537V(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCATGCAGATATATGCACACT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											115.0	112.0	113.0					4																	74283985		2203	4300	6503	SO:0001583	missense	213			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1159A>G	4.37:g.74283985A>G	ENSP00000421027:p.Ile387Val		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.26|11.26	1.586730|1.586730	0.28268|0.28268	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202|ENST00000511370	T;T;T;T;T|.	0.70516|.	-0.49;-0.49;-0.49;-0.49;-0.49|.	5.94|5.94	-7.97|-7.97	0.01139|0.01139	Serum albumin-like (1);Serum albumin, N-terminal (3);|.	0.799297|.	0.11571|.	N|.	0.550791|.	T|T	0.38692|0.38692	0.1050|0.1050	M|M	0.73598|0.73598	2.24|2.24	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.14578|.	0.001;0.001;0.0;0.011;0.001|.	T|T	0.48068|0.48068	-0.9067|-0.9067	10|5	0.59425|.	D|.	0.04|.	-2.6223|-2.6223	1.7157|1.7157	0.02901|0.02901	0.2784:0.1059:0.1521:0.4637|0.2784:0.1059:0.1521:0.4637	.|.	422;345;387;537;537|.	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768|.	.;.;.;.;ALBU_HUMAN|.	V|C	537;345;324;387;537;422;546|381	ENSP00000295897:I537V;ENSP00000401820:I345V;ENSP00000421027:I387V;ENSP00000422784:I537V;ENSP00000384695:I422V|.	ENSP00000295897:I537V|.	I|Y	+|+	1|2	0|0	ALB|ALB	74502849|74502849	0.001000|0.001000	0.12720|0.12720	0.008000|0.008000	0.14137|0.14137	0.842000|0.842000	0.47809|0.47809	-0.474000|-0.474000	0.06607|0.06607	-0.889000|-0.889000	0.03950|0.03950	-0.297000|-0.297000	0.09499|0.09499	ATA|TAT		0.403	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1		NM_000477	
ARHGAP11B	89839	broad.mit.edu;hgsc.bcm.edu	37	15	30919056	30919056	+	Silent	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr15:30919056G>T	ENST00000428041.2	+	1	178	c.33G>T	c.(31-33)ctG>ctT	p.L11L	RP11-932O9.7_ENST00000501830.2_RNA	NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	11					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.L11L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		AGTTGGCCCTGTTGCAGCATC	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											83.0	77.0	79.0					15																	30919056		2202	4300	6502	SO:0001819	synonymous_variant	89839			BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"""Rho GTPase activating proteins"""	15782	protein-coding gene	gene with protein product	"""GAP (1-8)"""		"""family with sequence similarity 7, member B1"""	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.33G>T	15.37:g.30919056G>T				Silent	SNP	ENST00000428041.2	37	CCDS32185.1																																																																																				0.552	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430729.1		NM_001039841	
ASH2L	9070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	37967896	37967896	+	Splice_Site	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr8:37967896G>T	ENST00000343823.6	+	4	710		c.e4-1		ASH2L_ENST00000250635.7_Splice_Site|ASH2L_ENST00000428278.2_Splice_Site|ASH2L_ENST00000545394.1_Splice_Site|ASH2L_ENST00000521652.1_Splice_Site	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)						cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CTCTTCGGCAGATCCTGTCTA	0.423																																																	1	Unknown(1)	kidney(1)											138.0	117.0	124.0					8																	37967896		2203	4300	6503	SO:0001630	splice_region_variant	9070			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.402-1G>T	8.37:g.37967896G>T			A8K7C3|D3DSW9|O60659|O60660|Q96B62	Splice_Site	SNP	ENST00000343823.6	37	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303896	0.60305	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000517719;ENST00000428278;ENST00000521652	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6597	0.95861	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASH2L	38087053	1.000000	0.71417	0.997000	0.53966	0.546000	0.35178	9.494000	0.97962	2.708000	0.92522	0.650000	0.86243	.		0.423	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4		NM_004674	Intron
ATP1B4	23439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	119509282	119509282	+	Silent	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:119509282C>T	ENST00000218008.3	+	5	675	c.618C>T	c.(616-618)taC>taT	p.Y206Y	ATP1B4_ENST00000361319.3_Silent_p.Y202Y|ATP1B4_ENST00000539306.1_Silent_p.Y163Y	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	206					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)	p.Y202Y(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CGGGGCAGTACTTCATCCAAG	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											141.0	125.0	131.0					X																	119509282		2203	4300	6503	SO:0001819	synonymous_variant	23439			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.618C>T	X.37:g.119509282C>T			Q17RR0|Q9UN41	Silent	SNP	ENST00000218008.3	37	CCDS48158.1																																																																																				0.463	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1		NM_001142447	
PHF7	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52443894	52443894	+	5'Flank	SNP	T	T	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:52443894T>C	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Start_Codon_SNP_p.M1V|BAP1_ENST00000296288.5_Start_Codon_SNP_p.M1V	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.M1V(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CCCTTATTCATCTTCCCGCGG	0.766																																																	1	Substitution - Missense(1)	kidney(1)											24.0	30.0	28.0					3																	52443894		2202	4299	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443894T>C	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352684	0.82132	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.41400	1.0;1.0	5.06	5.06	0.68205	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (2);	0.000000	0.85682	D	0.000000	T	0.39733	0.1089	.	.	.	0.80722	D	1	P	0.38565	0.637	B	0.37692	0.256	T	0.42241	-0.9463	9	0.87932	D	0	-3.8616	13.0727	0.59070	0.0:0.0:0.0:1.0	.	1	Q92560	BAP1_HUMAN	V	1	ENSP00000417132:M1V;ENSP00000296288:M1V	ENSP00000296288:M1V	M	-	1	0	BAP1	52418934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.431000	0.73395	1.913000	0.55393	0.533000	0.62120	ATG		0.766	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		NM_016483	
BBS2	583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	56535341	56535341	+	Silent	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr16:56535341G>A	ENST00000245157.5	-	10	1569	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	BBS2_ENST00000568104.1_Silent_p.L383L|BBS2_ENST00000561951.1_5'Flank	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	383					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.L383L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GCGTGGTGTGGAGCCTGGTAT	0.517									Bardet-Biedl syndrome																																								1	Substitution - coding silent(1)	kidney(1)											219.0	194.0	202.0					16																	56535341		2198	4300	6498	SO:0001819	synonymous_variant	583	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1149C>T	16.37:g.56535341G>A			Q96CM0|Q96SN9	Silent	SNP	ENST00000245157.5	37	CCDS32451.1																																																																																				0.517	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2		NM_031885	
BDKRB1	623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	96730316	96730316	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr14:96730316C>G	ENST00000216629.6	+	3	903	c.297C>G	c.(295-297)aaC>aaG	p.N99K	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.N99K	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	99					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)	p.N99K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		ATATCTGGAACCAGTTTAACT	0.552																																																	1	Substitution - Missense(1)	kidney(1)											79.0	79.0	79.0					14																	96730316		2203	4300	6503	SO:0001583	missense	623			L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.297C>G	14.37:g.96730316C>G	ENSP00000216629:p.Asn99Lys		A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547442	0.27652	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.71817	-0.6;-0.6	5.21	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.121285	0.53938	U	0.000059	T	0.67078	0.2855	L	0.48218	1.51	0.09310	N	0.999999	P;P	0.50272	0.933;0.859	P;P	0.53518	0.728;0.725	T	0.54556	-0.8276	10	0.30078	T	0.28	-15.5646	5.2515	0.15524	0.0:0.4161:0.4328:0.1511	.	99;99	G3V4Y2;P46663	.;BKRB1_HUMAN	K	99	ENSP00000216629:N99K;ENSP00000452064:N99K	ENSP00000216629:N99K	N	+	3	2	BDKRB1	95800069	0.000000	0.05858	0.045000	0.18777	0.033000	0.12548	-0.234000	0.09028	1.210000	0.43336	0.305000	0.20034	AAC		0.552	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			
DNM1P46	196968	hgsc.bcm.edu	37	15	100340142	100340142	+	RNA	SNP	C	C	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr15:100340142C>G	ENST00000341853.1	-	0	784					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										ACTCCTTGGTCTGCCTGCTCT	0.612																																																	0													17.0	17.0	17.0					15																	100340142		1531	3539	5070			0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340142C>G			Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																					0.612	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1		NR_003260	
TRABD2A	129293	broad.mit.edu;ucsc.edu	37	2	85097390	85097390	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:85097390C>T	ENST00000409520.2	-	2	670	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	TRABD2A_ENST00000335459.5_Missense_Mutation_p.E210K|TRABD2A_ENST00000409133.1_Missense_Mutation_p.E210K	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	210					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)	p.E210K(2)									CACTGCTCTTCCACCTTTTCC	0.488																																																	2	Substitution - Missense(2)	kidney(2)											168.0	173.0	171.0					2																	85097390		2009	4175	6184	SO:0001583	missense	0			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.628G>A	2.37:g.85097390C>T	ENSP00000387075:p.Glu210Lys		B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.137645	0.77775	.	.	ENSG00000186854	ENST00000335459;ENST00000409520;ENST00000409133	T;T;T	0.48522	2.96;0.81;0.81	3.14	3.14	0.36123	.	0.000000	0.64402	D	0.000003	T	0.63757	0.2538	.	.	.	0.49483	D	0.999799	D;D;D	0.71674	0.997;0.998;0.965	D;D;P	0.79108	0.992;0.935;0.777	T	0.64411	-0.6414	9	0.40728	T	0.16	.	11.7361	0.51765	0.0:1.0:0.0:0.0	.	210;210;210	Q86V40;C9IYB5;Q86V40-2	CB089_HUMAN;.;.	K	210	ENSP00000335004:E210K;ENSP00000387075:E210K;ENSP00000387183:E210K	ENSP00000335004:E210K	E	-	1	0	C2orf89	84950901	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.028000	0.70889	1.599000	0.50093	0.462000	0.41574	GAA		0.488	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001080824	
CACNA1E	777	hgsc.bcm.edu	37	1	181706671	181706672	+	Frame_Shift_Ins	INS	-	-	C	rs76614214		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:181706671_181706672insC	ENST00000367573.2	+	23	3433_3434	c.3433_3434insC	c.(3433-3435)gccfs	p.A1145fs	CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A1145fs|CACNA1E_ENST00000367567.4_Frame_Shift_Ins_p.A752fs|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A1096fs|CACNA1E_ENST00000526775.1_Frame_Shift_Ins_p.A1126fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A1126fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A1077fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1145					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATCCGGAGGGCCTGCCACTAC	0.629																																																	0																																										SO:0001589	frameshift_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3435dupC	1.37:g.181706673_181706673dupC	ENSP00000356545:p.Ala1145fs		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Ins	INS	ENST00000367573.2	37	CCDS55664.1																																																																																				0.629	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2		NM_000721	
CAPZA2	830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	116533094	116533094	+	Silent	SNP	A	A	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr7:116533094A>T	ENST00000361183.3	+	3	289	c.150A>T	c.(148-150)gcA>gcT	p.A50A	CAPZA2_ENST00000490693.1_Silent_p.A50A|CAPZA2_ENST00000458284.2_Silent_p.A50A	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	50					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.A50A(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			GGGAAGGAGCAGCCCAGTAAG	0.328																																																	1	Substitution - coding silent(1)	kidney(1)											78.0	74.0	76.0					7																	116533094		2203	4300	6503	SO:0001819	synonymous_variant	830				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.150A>T	7.37:g.116533094A>T			B4DG50	Silent	SNP	ENST00000361183.3	37	CCDS5768.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.793526	0.31685	.	.	ENSG00000198898	ENST00000464223;ENST00000484325	.	.	.	5.15	2.64	0.31445	.	.	.	.	.	T	0.62901	0.2466	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61357	-0.7079	5	0.87932	D	0	-3.6403	7.1779	0.25755	0.7773:0.1453:0.0774:0.0	.	.	.	.	L	28	.	ENSP00000420640:Q28L	Q	+	2	0	CAPZA2	116320330	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.391000	0.52530	0.315000	0.23110	0.533000	0.62120	CAG		0.328	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4		NM_006136	
CBX6	23466	hgsc.bcm.edu	37	22	39262466	39262466	+	Silent	SNP	C	C	T	rs114863931	byFrequency	TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr22:39262466C>T	ENST00000407418.3	-	5	1110	c.987G>A	c.(985-987)ccG>ccA	p.P329P	CBX6_ENST00000216083.6_Silent_p.P311P			O95503	CBX6_HUMAN	chromobox homolog 6	329					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					TGACCTCAGGCGGTGCCCGCT	0.751																																																	0													8.0	10.0	10.0					22																	39262466		2148	4138	6286	SO:0001819	synonymous_variant	23466				CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.987G>A	22.37:g.39262466C>T			A8KAH0|Q96EM5	Silent	SNP	ENST00000407418.3	37	CCDS13980.1																																																																																				0.751	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1		NM_014292	
CCBE1	147372	hgsc.bcm.edu;ucsc.edu	37	18	57147435	57147435	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr18:57147435delC	ENST00000439986.4	-	3	285	c.248delG	c.(247-249)ggafs	p.G83fs	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	83					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GATGCATTGTCCAAGAACAAA	0.274																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)												0													49.0	52.0	51.0					18																	57147435		2202	4291	6493	SO:0001589	frameshift_variant	147372			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.248delG	18.37:g.57147435delC	ENSP00000404464:p.Gly83fs		Q6MZX5|Q86SS2|Q8TF19	Frame_Shift_Del	DEL	ENST00000439986.4	37	CCDS32838.1																																																																																				0.274	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2		NM_133459	
CCDC86	79080	hgsc.bcm.edu	37	11	60610042	60610043	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr11:60610042_60610043insC	ENST00000227520.5	+	1	499_500	c.445_446insC	c.(445-447)gccfs	p.A149fs	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	149	Pro-rich.				viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GACCCCGGGGGCCCCCCAGCAT	0.634																																																	0																																										SO:0001589	frameshift_variant	79080			AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.451dupC	11.37:g.60610048_60610048dupC	ENSP00000227520:p.Ala149fs		B4DY99	Frame_Shift_Ins	INS	ENST00000227520.5	37	CCDS7993.1																																																																																				0.634	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1		NM_024098	
CCNF	899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2506613	2506613	+	Silent	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr16:2506613G>A	ENST00000397066.4	+	17	2041	c.1953G>A	c.(1951-1953)caG>caA	p.Q651Q	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	651	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)		p.Q651Q(2)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ATTGCTGCCAGGAATCCAGTG	0.602																																																	2	Substitution - coding silent(2)	kidney(2)											63.0	59.0	61.0					16																	2506613		2198	4300	6498	SO:0001819	synonymous_variant	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1953G>A	16.37:g.2506613G>A			B2R8H3|Q96EG9	Silent	SNP	ENST00000397066.4	37	CCDS10467.1																																																																																				0.602	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1		NM_001761	
CCNI	10983	broad.mit.edu;ucsc.edu	37	4	77969663	77969663	+	Silent	SNP	G	G	T	rs367798805		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr4:77969663G>T	ENST00000237654.4	-	7	1419	c.843C>A	c.(841-843)ccC>ccA	p.P281P	CCNI_ENST00000537948.1_Silent_p.P267P	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	281					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)			p.P281P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						GGACAGAGGAGGGATGTAATC	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											143.0	136.0	138.0					4																	77969663		2203	4300	6503	SO:0001819	synonymous_variant	10983			D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.843C>A	4.37:g.77969663G>T			B2R6M0|B7Z6X4	Silent	SNP	ENST00000237654.4	37	CCDS3580.1	.	.	.	.	.	.	.	.	.	.	G	6.865	0.528873	0.13127	.	.	ENSG00000118816	ENST00000515468	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	T	0.65407	0.2688	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62886	-0.6759	4	.	.	.	-0.5727	13.0828	0.59123	0.0729:0.0:0.9271:0.0	.	.	.	.	I	81	.	.	L	-	1	0	CCNI	78188687	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.244000	0.58728	2.683000	0.91414	0.655000	0.94253	CTC		0.537	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2		NM_006835	
CDC27	996	broad.mit.edu;hgsc.bcm.edu	37	17	45219300	45219300	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr17:45219300A>T	ENST00000066544.3	-	12	1563	c.1470T>A	c.(1468-1470)caT>caA	p.H490Q	CDC27_ENST00000446365.2_Missense_Mutation_p.H429Q|CDC27_ENST00000527547.1_Missense_Mutation_p.H489Q|CDC27_ENST00000531206.1_Missense_Mutation_p.H496Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	490					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.H490Q(1)|p.H496Q(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GAGAAGGTAGATGGCTCAAAA	0.383																																																	2	Substitution - Missense(2)	kidney(2)											114.0	119.0	117.0					17																	45219300		2203	4299	6502	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1470T>A	17.37:g.45219300A>T	ENSP00000066544:p.His490Gln		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	9.221	1.033288	0.19590	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.92	1.67	0.24075	Tetratricopeptide-like helical (1);	0.146716	0.64402	D	0.000007	T	0.29652	0.0740	N	0.00321	-1.65	0.45025	D	0.998045	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.001;0.003;0.003;0.001	T	0.04103	-1.0977	10	0.14252	T	0.57	-10.9647	8.2557	0.31756	0.4036:0.0:0.5963:0.0	.	429;489;496;490	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	Q	490;496;429;489	ENSP00000066544:H490Q;ENSP00000434614:H496Q;ENSP00000392802:H429Q;ENSP00000437339:H489Q	ENSP00000066544:H490Q	H	-	3	2	CDC27	42574299	0.997000	0.39634	0.999000	0.59377	0.984000	0.73092	0.527000	0.22987	0.103000	0.17682	-0.248000	0.11899	CAT		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			
CDCA2	157313	broad.mit.edu;hgsc.bcm.edu	37	8	25364407	25364407	+	Missense_Mutation	SNP	G	G	T	rs537909463		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr8:25364407G>T	ENST00000330560.3	+	15	2702	c.2225G>T	c.(2224-2226)gGt>gTt	p.G742V	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.G727V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	742					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G742V(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTTTCTGCTGGTGGTCAAAAT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											40.0	41.0	41.0					8																	25364407		2203	4300	6503	SO:0001583	missense	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2225G>T	8.37:g.25364407G>T	ENSP00000328228:p.Gly742Val		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	1.134	-0.651461	0.03506	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.27890	1.64;1.64	4.78	0.485	0.16830	.	0.972253	0.08473	N	0.940683	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.13407	0.009;0.009	T	0.27773	-1.0064	10	0.51188	T	0.08	-0.4165	5.903	0.18978	0.1391:0.2298:0.5436:0.0875	.	727;742	E9PEI0;Q69YH5	.;CDCA2_HUMAN	V	742;727;141	ENSP00000328228:G742V;ENSP00000370040:G727V	ENSP00000328228:G742V	G	+	2	0	CDCA2	25420324	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.301000	0.08232	-0.014000	0.14175	-0.829000	0.03081	GGT		0.423	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3		NM_152562	
CELF4	56853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	34855139	34855139	+	Silent	SNP	G	G	A	rs376508818		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr18:34855139G>A	ENST00000591282.1	-	4	515	c.516C>T	c.(514-516)ttC>ttT	p.F172F	CELF4_ENST00000420428.2_Silent_p.F172F|CELF4_ENST00000591287.1_Silent_p.F171F|CELF4_ENST00000334919.5_Silent_p.F162F|CELF4_ENST00000603232.1_Silent_p.F172F|CELF4_ENST00000412753.1_Silent_p.F172F|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000601019.1_Silent_p.F171F|CELF4_ENST00000588597.1_Silent_p.F161F|CELF4_ENST00000361795.5_Silent_p.F171F|RP11-797E24.3_ENST00000586610.1_RNA			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	172	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.F172F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CAAAGGCCTCGAAAAGGCGGC	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											71.0	73.0	73.0					18																	34855139		2203	4300	6503	SO:0001819	synonymous_variant	56853			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.516C>T	18.37:g.34855139G>A			Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	CCDS32818.1																																																																																				0.622	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1		NM_020180	
CEP290	80184	hgsc.bcm.edu;ucsc.edu	37	12	88482866	88482866	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr12:88482866delT	ENST00000552810.1	-	31	4315	c.3972delA	c.(3970-3972)aaafs	p.K1324fs	CEP290_ENST00000397838.3_Frame_Shift_Del_p.K384fs|CEP290_ENST00000309041.7_Frame_Shift_Del_p.K1326fs|CEP290_ENST00000547691.2_Frame_Shift_Del_p.K384fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1324					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GGCCCTTTAATTTTAATTCCA	0.294																																																	0													78.0	72.0	74.0					12																	88482866		1795	4062	5857	SO:0001589	frameshift_variant	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3972delA	12.37:g.88482866delT	ENSP00000448012:p.Lys1324fs		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	ENST00000552810.1	37	CCDS55858.1																																																																																				0.294	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1		NM_025114	
CGNL1	84952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	57836715	57836715	+	Nonsense_Mutation	SNP	C	C	G	rs137878510	byFrequency	TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr15:57836715C>G	ENST00000281282.5	+	16	3498	c.3420C>G	c.(3418-3420)taC>taG	p.Y1140*		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1140						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.Y1140*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAGGTTCCTACAGGTCCAGCA	0.592																																																	1	Substitution - Nonsense(1)	kidney(1)											57.0	49.0	51.0					15																	57836715		2192	4292	6484	SO:0001587	stop_gained	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3420C>G	15.37:g.57836715C>G	ENSP00000281282:p.Tyr1140*		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Nonsense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	41	8.977988	0.99023	.	.	ENSG00000128849	ENST00000281282	.	.	.	5.82	3.59	0.41128	.	0.133856	0.34531	N	0.003900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.6237	13.8466	0.63470	0.0:0.8543:0.0:0.1457	.	.	.	.	X	1140	.	ENSP00000281282:Y1140X	Y	+	3	2	CGNL1	55624007	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.825000	0.27393	1.443000	0.47586	0.563000	0.77884	TAC		0.592	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2		NM_032866	
COBL	23242	hgsc.bcm.edu	37	7	51096357	51096358	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr7:51096357_51096358insT	ENST00000265136.7	-	10	2600_2601	c.2435_2436insA	c.(2434-2436)aagfs	p.K812fs	COBL_ENST00000395542.2_Frame_Shift_Ins_p.K894fs	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	812					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCGATATTGGCTTGGGGTCTGC	0.663																																					NSCLC(189;2119 2138 12223 30818 34679)												0																																										SO:0001589	frameshift_variant	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2436dupA	7.37:g.51096359_51096359dupT	ENSP00000265136:p.Lys812fs		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Frame_Shift_Ins	INS	ENST00000265136.7	37	CCDS34637.1																																																																																				0.663	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1		NM_015198	
COL4A6	1288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	107431170	107431170	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:107431170G>A	ENST00000372216.4	-	22	1778	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	COL4A6_ENST00000394872.2_Missense_Mutation_p.R560W|COL4A6_ENST00000545689.1_Missense_Mutation_p.R559W|COL4A6_ENST00000538570.1_Missense_Mutation_p.R559W|COL4A6_ENST00000334504.7_Missense_Mutation_p.R559W	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	560	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.R559W(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GAATCACCCCGATCTCCTGGC	0.537									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												1	Substitution - Missense(1)	kidney(1)											111.0	106.0	108.0					X																	107431170		2203	4300	6503	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1678C>T	X.37:g.107431170G>A	ENSP00000361290:p.Arg560Trp		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	6.515	0.463214	0.12402	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.94537	-3.45;-3.45;-3.29;-3.45;-3.29	5.05	1.72	0.24424	.	1.201530	0.06288	N	0.698584	D	0.94182	0.8133	M	0.80616	2.505	0.09310	N	1	D;D;D;D	0.56035	0.968;0.968;0.974;0.968	B;B;B;B	0.40329	0.219;0.319;0.326;0.219	D	0.84193	0.0446	10	0.66056	D	0.02	.	12.425	0.55542	0.0:0.0:0.3655:0.6345	.	559;559;560;559	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	W	560;559;560;559;559;559	ENSP00000361290:R560W;ENSP00000334733:R559W;ENSP00000378340:R560W;ENSP00000443707:R559W;ENSP00000445236:R559W	ENSP00000334733:R559W	R	-	1	2	COL4A6	107317826	0.093000	0.21703	0.000000	0.03702	0.033000	0.12548	1.931000	0.40134	0.032000	0.15435	0.513000	0.50165	CGG		0.537	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			
COL4A5	1287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	107935977	107935977	+	Splice_Site	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:107935977G>T	ENST00000361603.2	+	48	4754		c.e48-1		COL4A5_ENST00000328300.6_Splice_Site	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AATCTTTCTAGGGACGGCTGG	0.403									Alport syndrome with Diffuse Leiomyomatosis																																								1	Unknown(1)	kidney(1)											106.0	84.0	92.0					X																	107935977		2203	4300	6503	SO:0001630	splice_region_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4511-1G>T	X.37:g.107935977G>T			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Splice_Site	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.486729	0.63962	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0941	0.93242	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL4A5	107822633	1.000000	0.71417	0.971000	0.41717	0.658000	0.38924	9.869000	0.99810	2.459000	0.83118	0.594000	0.82650	.		0.403	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			Intron
CPSF7	79869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61188976	61188976	+	Silent	SNP	A	A	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr11:61188976A>C	ENST00000394888.4	-	3	331	c.159T>G	c.(157-159)ccT>ccG	p.P53P	CPSF7_ENST00000448745.1_Silent_p.P53P|CPSF7_ENST00000340437.4_Silent_p.P96P|CPSF7_ENST00000439958.3_Silent_p.P53P|CPSF7_ENST00000541963.1_Silent_p.P53P	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	53	Poly-Pro.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P53P(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCGAACAGGAGGAGGTGGTT	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											221.0	190.0	201.0					11																	61188976		2202	4299	6501	SO:0001819	synonymous_variant	79869				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.159T>G	11.37:g.61188976A>C			B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Silent	SNP	ENST00000394888.4	37	CCDS44619.1																																																																																				0.517	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2		NM_024811	
CT47B1	643311	broad.mit.edu	37	X	120009345	120009345	+	Silent	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:120009345G>T	ENST00000371311.3	-	1	434	c.180C>A	c.(178-180)ggC>ggA	p.G60G		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	60								p.G60G(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCCCCGAGGCCTTCCACGG	0.741																																																	1	Substitution - coding silent(1)	kidney(1)											4.0	7.0	6.0					X																	120009345		641	1452	2093	SO:0001819	synonymous_variant	643311				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.180C>A	X.37:g.120009345G>T			A6NM97	Silent	SNP	ENST00000371311.3	37	CCDS48161.1																																																																																				0.741	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1		NM_001145718	
CYBRD1	79901	broad.mit.edu;hgsc.bcm.edu	37	2	172411334	172411334	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:172411334G>A	ENST00000321348.4	+	4	1056	c.858G>A	c.(856-858)atG>atA	p.M286I	CYBRD1_ENST00000409484.1_Missense_Mutation_p.M228I|CYBRD1_ENST00000375252.3_3'UTR	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	286					cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)	p.M286I(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GATCTACCATGTAAAATGTTG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											51.0	50.0	50.0					2																	172411334		2203	4300	6503	SO:0001583	missense	79901			AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"""Cytochrome b genes"""	20797	protein-coding gene	gene with protein product	"""ferric-chelate reductase 3"", ""cytochrome b561 family, member A2"""	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.858G>A	2.37:g.172411334G>A	ENSP00000319141:p.Met286Ile		B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP	ENST00000321348.4	37	CCDS2244.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.619013	0.66787	.	.	ENSG00000071967	ENST00000409484;ENST00000321348	T;T	0.57595	0.39;0.4	5.34	5.34	0.76211	.	0.125196	0.64402	D	0.000008	T	0.58652	0.2137	M	0.73598	2.24	0.80722	D	1	P	0.39831	0.69	B	0.39152	0.292	T	0.66388	-0.5936	10	0.87932	D	0	-12.0233	19.057	0.93069	0.0:0.0:1.0:0.0	.	286	Q53TN4	CYBR1_HUMAN	I	228;286	ENSP00000386739:M228I;ENSP00000319141:M286I	ENSP00000319141:M286I	M	+	3	0	CYBRD1	172119580	1.000000	0.71417	0.999000	0.59377	0.580000	0.36256	5.741000	0.68638	2.508000	0.84585	0.655000	0.94253	ATG		0.398	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2		NM_024843	
DLX4	1748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48050513	48050513	+	Silent	SNP	G	G	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr17:48050513G>C	ENST00000240306.3	+	2	655	c.360G>C	c.(358-360)ccG>ccC	p.P120P	DLX4_ENST00000411890.2_Silent_p.P48P|DLX4_ENST00000503410.1_3'UTR	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	120					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P120P(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						TCCGCAAGCCGAGGACCATCT	0.677																																																	1	Substitution - coding silent(1)	kidney(1)											32.0	36.0	34.0					17																	48050513		2201	4300	6501	SO:0001819	synonymous_variant	1748				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.360G>C	17.37:g.48050513G>C			D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Silent	SNP	ENST00000240306.3	37	CCDS11555.1																																																																																				0.677	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			
DNAJC13	23317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	132245126	132245126	+	Splice_Site	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:132245126G>A	ENST00000260818.6	+	53	6629		c.e53+1			NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13						osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.?(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGTAGCACAAGTAAGTGACTT	0.368																																																	1	Unknown(1)	kidney(1)											99.0	97.0	98.0					3																	132245126		2203	4300	6503	SO:0001630	splice_region_variant	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6381+1G>A	3.37:g.132245126G>A			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Splice_Site	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732536	0.89482	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3962	0.94608	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC13	133727816	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.646000	0.98474	2.662000	0.90505	0.591000	0.81541	.		0.368	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2		NM_015268	Intron
DUSP27	92235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	167095901	167095901	+	Silent	SNP	A	A	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:167095901A>C	ENST00000361200.2	+	6	1699	c.1533A>C	c.(1531-1533)gcA>gcC	p.A511A	DUSP27_ENST00000271385.5_Silent_p.A511A|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.A511A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	511					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A511A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCTCAGAAGCAGGGAGCAGGG	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											62.0	58.0	59.0					1																	167095901		2203	4300	6503	SO:0001819	synonymous_variant	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1533A>C	1.37:g.167095901A>C			A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	CCDS30932.1																																																																																				0.597	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1		NM_001080426	
EHMT2	10919	broad.mit.edu;hgsc.bcm.edu	37	6	31855386	31855386	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr6:31855386T>C	ENST00000375537.4	-	15	1985	c.1979A>G	c.(1978-1980)cAg>cGg	p.Q660R	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.Q683R|EHMT2_ENST00000375530.4_Missense_Mutation_p.Q626R|EHMT2_ENST00000395728.3_Missense_Mutation_p.Q717R	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	660					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.Q660R(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGCTCGCCCTGCTTCACGGA	0.582																																																	1	Substitution - Missense(1)	kidney(1)											129.0	91.0	105.0					6																	31855386		1511	2709	4220	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1979A>G	6.37:g.31855386T>C	ENSP00000364687:p.Gln660Arg		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.166403	0.57476	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.31	5.31	0.75309	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	N	0.24115	0.695	0.50813	D	0.999896	B;B;B;B	0.22800	0.033;0.026;0.075;0.026	B;B;B;B	0.25759	0.042;0.015;0.017;0.063	T	0.34750	-0.9816	10	0.46703	T	0.11	.	14.2515	0.66023	0.0:0.0:0.0:1.0	.	683;626;660;474	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	R	717;683;626;660;474	ENSP00000379078:Q717R;ENSP00000364678:Q683R;ENSP00000364680:Q626R;ENSP00000364687:Q660R	ENSP00000364678:Q683R	Q	-	2	0	EHMT2	31963365	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	5.781000	0.68964	2.012000	0.59069	0.533000	0.62120	CAG		0.582	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5		NM_006709	
EMR1	2015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6896425	6896425	+	Silent	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr19:6896425C>T	ENST00000312053.4	+	3	148	c.111C>T	c.(109-111)gaC>gaT	p.D37D	AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000381407.5_Silent_p.D37D|EMR1_ENST00000450315.3_Silent_p.D37D|EMR1_ENST00000250572.8_Silent_p.D37D|EMR1_ENST00000381404.4_Silent_p.D37D|EMR1_ENST00000601198.1_3'UTR	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	37	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D37D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACTGTAGAGACAGTACCTTGT	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											185.0	166.0	173.0					19																	6896425		2203	4300	6503	SO:0001819	synonymous_variant	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.111C>T	19.37:g.6896425C>T			A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	CCDS12175.1																																																																																				0.463	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			
ERICH1	157697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	623372	623372	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr8:623372T>A	ENST00000262109.7	-	4	1057	c.980A>T	c.(979-981)gAg>gTg	p.E327V	ERICH1_ENST00000522706.1_Missense_Mutation_p.E233V|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	327	Glu-rich.							p.E327V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		ATCATCTTCCTCGCTGGCGTC	0.498																																																	1	Substitution - Missense(1)	kidney(1)											154.0	160.0	158.0					8																	623372		2203	4300	6503	SO:0001583	missense	157697				CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.980A>T	8.37:g.623372T>A	ENSP00000262109:p.Glu327Val		A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	CCDS5955.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.24|11.24	1.581764|1.581764	0.28180|0.28180	.|.	.|.	ENSG00000104714|ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109|ENST00000522893	T;T|.	0.35605|.	1.3;1.33|.	4.18|4.18	3.01|3.01	0.34805|0.34805	.|.	0.606585|.	0.15774|.	N|.	0.245313|.	T|T	0.32615|0.32615	0.0835|0.0835	L|L	0.29908|0.29908	0.895|0.895	0.21473|0.21473	N|N	0.999673|0.999673	P;P;P|.	0.44429|.	0.835;0.835;0.835|.	P;P;P|.	0.53102|.	0.718;0.607;0.531|.	T|T	0.19095|0.19095	-1.0316|-1.0316	10|5	0.40728|.	T|.	0.16|.	-12.1972|-12.1972	8.2721|8.2721	0.31851|0.31851	0.0:0.0982:0.0:0.9018|0.0:0.0982:0.0:0.9018	.|.	327;327;233|.	B4DMI5;Q86X53;E5RHA3|.	.;ERIC1_HUMAN;.|.	V|W	327;233;327|96	ENSP00000428635:E233V;ENSP00000262109:E327V|.	ENSP00000262109:E327V|.	E|R	-|-	2|1	0|2	ERICH1|ERICH1	613372|613372	0.922000|0.922000	0.31269|0.31269	0.407000|0.407000	0.26434|0.26434	0.026000|0.026000	0.11368|0.11368	0.225000|0.225000	0.17757|0.17757	0.930000|0.930000	0.37217|0.37217	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.498	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3		NM_207332	
ERICH6	131831	hgsc.bcm.edu	37	3	150421527	150421527	+	Silent	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:150421527C>T	ENST00000295910.6	-	1	211	c.159G>A	c.(157-159)gaG>gaA	p.E53E	FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000475393.1_RNA|RP11-103G8.2_ENST00000471093.1_RNA	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ccaccacctcctcctcctcct	0.602																																																	0																																										SO:0001819	synonymous_variant	131831																														ENST00000295910.6:c.159G>A	3.37:g.150421527C>T				Silent	SNP	ENST00000295910.6	37	CCDS3151.2																																																																																				0.602	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			
FAM9A	171482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	8764374	8764374	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:8764374A>T	ENST00000543214.1	-	6	558	c.423T>A	c.(421-423)gaT>gaA	p.D141E	FAM9A_ENST00000381003.3_Missense_Mutation_p.D141E	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	141						nucleus (GO:0005634)		p.D141E(1)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				AAGCTGCTTTATCTATTTTTA	0.294																																																	1	Substitution - Missense(1)	kidney(1)											157.0	120.0	133.0					X																	8764374		2203	4298	6501	SO:0001583	missense	171482				CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.423T>A	X.37:g.8764374A>T	ENSP00000440163:p.Asp141Glu		B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	a	5.946	0.358481	0.11239	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.678	0.678	0.17969	.	.	.	.	.	T	0.31857	0.0810	L	0.34521	1.04	0.09310	N	1	D	0.64830	0.994	P	0.50617	0.646	T	0.15838	-1.0423	7	0.31617	T	0.26	.	.	.	.	.	141	Q8IZU1	FAM9A_HUMAN	E	141	.	ENSP00000370391:D141E	D	-	3	2	FAM9A	8724374	0.989000	0.36119	0.008000	0.14137	0.014000	0.08584	0.317000	0.19487	0.505000	0.28104	0.372000	0.22366	GAT		0.294	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1		NM_174951	
FN3K	64122	hgsc.bcm.edu;ucsc.edu	37	17	80706807	80706808	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr17:80706807_80706808insG	ENST00000300784.7	+	5	607_608	c.545_546insG	c.(544-549)aaggacfs	p.D183fs		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	183					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTCATTGAGAAGGACTATGCTG	0.604																																					Melanoma(10;391 597 14592 32548 32749)												0																																										SO:0001589	frameshift_variant	64122			AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.547dupG	17.37:g.80706809_80706809dupG	ENSP00000300784:p.Asp183fs			Frame_Shift_Ins	INS	ENST00000300784.7	37	CCDS11818.1																																																																																				0.604	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439229.1		NM_022158	
FNBP1L	54874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	93987691	93987691	+	Splice_Site	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:93987691C>T	ENST00000271234.7	+	3	344	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	FNBP1L_ENST00000260506.8_Splice_Site_p.R65W|FNBP1L_ENST00000370256.4_Splice_Site_p.R65W|FNBP1L_ENST00000370253.2_Splice_Site_p.R65W|FNBP1L_ENST00000604705.1_Splice_Site_p.R65W	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	65	F-BAR domain. {ECO:0000250}.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R65W(4)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TGAAGAGCCACGGTAAATTAC	0.239																																																	4	Substitution - Missense(4)	kidney(4)											18.0	16.0	17.0					1																	93987691		1777	4039	5816	SO:0001630	splice_region_variant	54874				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.194+1C>T	1.37:g.93987691C>T			J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	37	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.535899	0.64972	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.47	4.35	0.52113	.	0.184649	0.51477	D	0.000093	T	0.42404	0.1201	M	0.65975	2.015	0.80722	D	1	D;D	0.58970	0.978;0.984	P;P	0.54100	0.618;0.742	T	0.47761	-0.9092	10	0.72032	D	0.01	-29.649	12.5175	0.56040	0.854:0.146:0.0:0.0	.	65;65	Q5T0N5-4;Q5T0N5-3	.;.	W	65	ENSP00000359278:R65W;ENSP00000271234:R65W;ENSP00000260506:R65W;ENSP00000359275:R65W	ENSP00000260506:R65W	R	+	1	2	FNBP1L	93760279	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.386000	0.44380	0.921000	0.36994	-0.457000	0.05445	CGG		0.239	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_017737	Missense_Mutation
FOXP4	116113	broad.mit.edu;hgsc.bcm.edu	37	6	41554889	41554889	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr6:41554889C>T	ENST00000307972.4	+	5	665	c.653C>T	c.(652-654)cCg>cTg	p.P218L	FOXP4_ENST00000409208.1_Missense_Mutation_p.P218L|FOXP4_ENST00000373063.3_Missense_Mutation_p.P218L|FOXP4_ENST00000373060.1_Missense_Mutation_p.P218L|FOXP4_ENST00000373057.3_Missense_Mutation_p.P216L			Q8IVH2	FOXP4_HUMAN	forkhead box P4	218	Gln-rich.				embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P218L(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGACCCTTCCGCAAGGTGAG	0.652											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					2	Substitution - Missense(2)	kidney(2)											14.0	18.0	17.0					6																	41554889		2172	4247	6419	SO:0001583	missense	116113			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.653C>T	6.37:g.41554889C>T	ENSP00000309823:p.Pro218Leu	902	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834987	0.71373	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.4	4.4	0.53042	.	0.068711	0.64402	D	0.000013	T	0.34745	0.0908	M	0.66939	2.045	0.50313	D	0.999865	P;P;P	0.47677	0.804;0.804;0.899	B;B;B	0.38803	0.058;0.085;0.282	T	0.41592	-0.9500	10	0.44086	T	0.13	.	16.9708	0.86298	0.0:1.0:0.0:0.0	.	218;216;218	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	L	218;218;218;216;218	ENSP00000362151:P218L;ENSP00000362154:P218L;ENSP00000386958:P218L;ENSP00000362148:P216L;ENSP00000309823:P218L	ENSP00000309823:P218L	P	+	2	0	FOXP4	41662867	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.019000	0.70818	1.988000	0.58038	0.462000	0.41574	CCG		0.652	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1		NM_138457	
GAMT	2593	broad.mit.edu;hgsc.bcm.edu	37	19	1398924	1398924	+	Silent	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr19:1398924G>A	ENST00000252288.2	-	5	627	c.561C>T	c.(559-561)atC>atT	p.I187I	GAMT_ENST00000447102.3_Silent_p.I187I|AC005329.7_ENST00000501448.1_RNA	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	187	RMT2. {ECO:0000255|PROSITE- ProRule:PRU00892}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)	p.I187I(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)|Guanidine(DB00536)	CCTCAAACATGATGGTGATGT	0.612																																					Colon(167;1531 1939 13427 28842 31956)												2	Substitution - coding silent(2)	kidney(2)											78.0	58.0	65.0					19																	1398924		2203	4300	6503	SO:0001819	synonymous_variant	2593			Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.561C>T	19.37:g.1398924G>A			A8K0A0|Q53Y34|Q8WVJ1	Silent	SNP	ENST00000252288.2	37	CCDS12064.1																																																																																				0.612	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449739.1		NM_138924	
GCC2	9648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	109100728	109100728	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:109100728A>G	ENST00000309863.6	+	13	4288	c.3574A>G	c.(3574-3576)Att>Gtt	p.I1192V		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1192					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.I1192V(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGAAATAAAAATTCAAAAACA	0.259																																																	1	Substitution - Missense(1)	kidney(1)											36.0	38.0	37.0					2																	109100728		2197	4293	6490	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3574A>G	2.37:g.109100728A>G	ENSP00000307939:p.Ile1192Val		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.492786	0.64074	.	.	ENSG00000135968	ENST00000309863	T	0.31510	1.49	5.82	4.66	0.58398	.	0.187156	0.46442	D	0.000283	T	0.44244	0.1284	M	0.69823	2.125	0.37147	D	0.901976	D	0.54207	0.965	P	0.52343	0.696	T	0.51044	-0.8755	10	0.33141	T	0.24	.	13.2822	0.60222	0.8678:0.1322:0.0:0.0	.	1192	Q8IWJ2	GCC2_HUMAN	V	1192	ENSP00000307939:I1192V	ENSP00000307939:I1192V	I	+	1	0	GCC2	108467160	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.330000	0.72925	1.017000	0.39495	0.383000	0.25322	ATT		0.259	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635	
GNAI3	2773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110129422	110129422	+	Silent	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:110129422C>T	ENST00000369851.4	+	7	902	c.792C>T	c.(790-792)atC>atT	p.I264I		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	264					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.I264I(1)		NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		AAACTTCAATCATTCTCTTCC	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	57.0	56.0					1																	110129422		2203	4296	6499	SO:0001819	synonymous_variant	2773			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.792C>T	1.37:g.110129422C>T			P17539|Q5TZX1	Silent	SNP	ENST00000369851.4	37	CCDS802.1																																																																																				0.338	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1		NM_006496	
GOT2	2806	broad.mit.edu;hgsc.bcm.edu	37	16	58757714	58757714	+	Missense_Mutation	SNP	T	T	C	rs199949591		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr16:58757714T>C	ENST00000245206.5	-	2	310	c.182A>G	c.(181-183)aAt>aGt	p.N61S	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.N61S	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	61					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.N61S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	AACTCCCAGATTCATCTTTTT	0.498													T|||	1	0.000199681	0.0	0.0	5008	,	,		20256	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						T	SER/ASN	1,4395	2.1+/-5.4	0,1,2197	191.0	188.0	189.0		182	5.5	1.0	16		189	0,8600		0,0,4300	no	missense	GOT2	NM_002080.2	46	0,1,6497	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	61/431	58757714	1,12995	2198	4300	6498	SO:0001583	missense	2806				CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.182A>G	16.37:g.58757714T>C	ENSP00000245206:p.Asn61Ser		B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	CCDS10801.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	25.3	4.627028	0.87560	2.27E-4	0.0	ENSG00000125166	ENST00000245206;ENST00000434819;ENST00000425685	T;T	0.24350	1.86;1.86	5.46	5.46	0.80206	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	M	0.86740	2.835	0.80722	D	1	D;D	0.61080	0.989;0.978	P;P	0.58013	0.831;0.7	T	0.59511	-0.7441	9	.	.	.	-20.1802	14.7149	0.69259	0.0:0.0:0.0:1.0	.	61;61	E7ERW2;P00505	.;AATM_HUMAN	S	61	ENSP00000245206:N61S;ENSP00000394100:N61S	.	N	-	2	0	GOT2	57315215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.797000	0.85911	2.082000	0.62665	0.533000	0.62120	AAT		0.498	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			
GPX8	493869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	54459987	54459987	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr5:54459987A>G	ENST00000503787.1	+	3	646	c.571A>G	c.(571-573)Agg>Ggg	p.R191G	CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000296734.6_3'UTR|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000322374.6_Intron|GPX8_ENST00000506123.1_3'UTR|GPX8_ENST00000515370.1_Missense_Mutation_p.R140G|CDC20B_ENST00000296733.1_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	191					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)	p.R191G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	TGAAGTCATCAGGCCTGACAT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											60.0	61.0	60.0					5																	54459987		2203	4300	6503	SO:0001583	missense	493869			BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.571A>G	5.37:g.54459987A>G	ENSP00000423822:p.Arg191Gly			Missense_Mutation	SNP	ENST00000503787.1	37	CCDS34156.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763425	0.49574	.	.	ENSG00000164294	ENST00000503787;ENST00000515370	T;T	0.04049	3.72;3.72	5.92	4.75	0.60458	Thioredoxin-like fold (2);	0.227351	0.51477	D	0.000084	T	0.08313	0.0207	M	0.70903	2.155	0.42544	D	0.993088	B;P	0.36909	0.42;0.573	B;B	0.35550	0.105;0.205	T	0.04915	-1.0918	10	0.52906	T	0.07	.	12.0322	0.53403	0.7259:0.2741:0.0:0.0	.	140;191	E7ETY7;Q8TED1	.;GPX8_HUMAN	G	191;140	ENSP00000423822:R191G;ENSP00000427466:R140G	ENSP00000423822:R191G	R	+	1	2	GPX8	54495744	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.189000	0.42621	1.033000	0.39918	0.528000	0.53228	AGG		0.423	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1		NM_001008397	
GSS	2937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33529582	33529582	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr20:33529582G>T	ENST00000216951.2	-	6	640	c.542C>A	c.(541-543)tCt>tAt	p.S181Y	GSS_ENST00000451957.2_Intron|GSS_ENST00000541098.1_Missense_Mutation_p.S53Y	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	181					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.S181Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GGGATTATTAGAGAGGATCTT	0.517																																																	1	Substitution - Missense(1)	kidney(1)											105.0	95.0	99.0					20																	33529582		2203	4300	6503	SO:0001583	missense	2937				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.542C>A	20.37:g.33529582G>T	ENSP00000216951:p.Ser181Tyr		B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123174	0.77436	.	.	ENSG00000100983	ENST00000216951;ENST00000541098	D;D	0.90844	-2.74;-2.74	5.78	4.83	0.62350	Glutathione synthase, N-terminal, eukaryotic (1);	0.265137	0.43416	D	0.000574	D	0.86171	0.5869	L	0.36672	1.1	0.37030	D	0.89661	B	0.25441	0.126	B	0.17722	0.019	D	0.86075	0.1540	10	0.66056	D	0.02	-3.4649	15.1356	0.72562	0.0679:0.0:0.9321:0.0	.	181	P48637	GSHB_HUMAN	Y	181;53	ENSP00000216951:S181Y;ENSP00000439744:S53Y	ENSP00000216951:S181Y	S	-	2	0	GSS	32993243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.924000	0.56476	1.591000	0.50007	0.655000	0.94253	TCT		0.517	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			
HERC1	8925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63970224	63970224	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr15:63970224C>A	ENST00000443617.2	-	37	6977	c.6890G>T	c.(6889-6891)aGg>aTg	p.R2297M	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2297					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R2297M(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCAAAGAGTCCTCAGCTGCAG	0.522																																																	2	Substitution - Missense(2)	kidney(2)											136.0	144.0	141.0					15																	63970224		2098	4216	6314	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6890G>T	15.37:g.63970224C>A	ENSP00000390158:p.Arg2297Met		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461797	0.43736	.	.	ENSG00000103657	ENST00000443617	T	0.25250	1.81	5.6	4.58	0.56647	.	0.197532	0.42548	D	0.000685	T	0.22666	0.0547	L	0.44542	1.39	0.42647	D	0.993435	B	0.27732	0.187	B	0.33890	0.172	T	0.09122	-1.0689	10	0.62326	D	0.03	.	6.7152	0.23300	0.0:0.7965:0.0:0.2035	.	2297	Q15751	HERC1_HUMAN	M	2297	ENSP00000390158:R2297M	ENSP00000390158:R2297M	R	-	2	0	HERC1	61757277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.568000	0.36418	2.635000	0.89317	0.655000	0.94253	AGG		0.522	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922	
HN1L	90861	broad.mit.edu;hgsc.bcm.edu	37	16	1748907	1748907	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr16:1748907G>A	ENST00000248098.3	+	5	538	c.481G>A	c.(481-483)Gac>Aac	p.D161N	HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000382710.4_Missense_Mutation_p.D149N|HN1L_ENST00000382711.5_Missense_Mutation_p.D145N|HN1L_ENST00000562684.1_Missense_Mutation_p.D189N	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	161						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D161N(1)		endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						GCCCACAGTCGACAGCCATGA	0.637																																																	1	Substitution - Missense(1)	kidney(1)											54.0	65.0	62.0					16																	1748907		2199	4300	6499	SO:0001583	missense	90861			AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 34"""	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.481G>A	16.37:g.1748907G>A	ENSP00000248098:p.Asp161Asn		B1AJY2|Q6EIC7	Missense_Mutation	SNP	ENST00000248098.3	37	CCDS10441.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659888	0.47572	.	.	ENSG00000206053	ENST00000248098;ENST00000382711;ENST00000382710	T;T	0.54279	0.58;0.58	6.17	5.22	0.72569	.	0.141811	0.64402	N	0.000004	T	0.70245	0.3202	M	0.74258	2.255	0.40577	D	0.981356	P;D;P	0.89917	0.58;1.0;0.58	B;D;B	0.87578	0.126;0.998;0.126	T	0.70219	-0.4932	10	0.27785	T	0.31	-41.4279	13.7528	0.62917	0.0714:0.0:0.9286:0.0	.	149;189;161	A6NGP5;B4DLH4;Q9H910	.;.;HN1L_HUMAN	N	161;189;149	ENSP00000248098:D161N;ENSP00000372157:D149N	ENSP00000248098:D161N	D	+	1	0	HN1L	1688908	1.000000	0.71417	0.914000	0.36105	0.073000	0.16967	7.762000	0.85270	1.626000	0.50381	0.655000	0.94253	GAC		0.637	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109086.2		NM_144570	
KCNH7	90134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	163241431	163241431	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:163241431G>C	ENST00000332142.5	-	13	2828	c.2729C>G	c.(2728-2730)cCt>cGt	p.P910R		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	910					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.P910R(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGAGTCTTCAGGATCATTTGT	0.343																																					GBM(196;1492 2208 17507 24132 45496)												1	Substitution - Missense(1)	kidney(1)											121.0	116.0	118.0					2																	163241431		2203	4299	6502	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2729C>G	2.37:g.163241431G>C	ENSP00000331727:p.Pro910Arg		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481632	0.26598	.	.	ENSG00000184611	ENST00000332142	D	0.98512	-4.97	5.6	4.72	0.59763	.	0.583591	0.19840	N	0.104880	D	0.93592	0.7954	N	0.08118	0	0.80722	D	1	B	0.28324	0.207	B	0.21546	0.035	D	0.91580	0.5278	10	0.38643	T	0.18	.	13.6049	0.62041	0.0742:0.0:0.9258:0.0	.	910	Q9NS40	KCNH7_HUMAN	R	910	ENSP00000331727:P910R	ENSP00000331727:P910R	P	-	2	0	KCNH7	162949677	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.588000	0.53964	1.388000	0.46506	0.655000	0.94253	CCT		0.343	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1		NM_033272	
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																																	4	Substitution - Missense(4)	urinary_tract(2)|kidney(2)											18.0	28.0	25.0					17																	39240627		691	1590	2281	SO:0001583	missense	100132476			AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro		A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			
LAMB1	3912	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107596066	107596066	+	Silent	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr7:107596066A>G	ENST00000222399.6	-	21	2930	c.2700T>C	c.(2698-2700)gcT>gcC	p.A900A	LAMB1_ENST00000393561.1_Silent_p.A924A	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	900	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.A900A(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CATAGTAACCAGCCAAGCACC	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											48.0	43.0	45.0					7																	107596066		2203	4300	6503	SO:0001819	synonymous_variant	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2700T>C	7.37:g.107596066A>G			Q14D91	Silent	SNP	ENST00000222399.6	37	CCDS5750.1																																																																																				0.542	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1		NM_002291	
LAMB3	3914	hgsc.bcm.edu	37	1	209799286	209799286	+	Silent	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:209799286C>T	ENST00000356082.4	-	14	1817	c.1683G>A	c.(1681-1683)ggG>ggA	p.G561G	MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000391911.1_Silent_p.G561G|LAMB3_ENST00000367030.3_Silent_p.G561G	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	561	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CACAGCGGGGCCCGGTCAAGC	0.652																																																	0													24.0	27.0	26.0					1																	209799286		2203	4298	6501	SO:0001819	synonymous_variant	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1683G>A	1.37:g.209799286C>T			D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	CCDS1487.1																																																																																				0.652	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2		NM_000228	
LAMB4	22798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107720165	107720165	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr7:107720165G>A	ENST00000388781.3	-	15	1851	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S	LAMB4_ENST00000205386.4_Missense_Mutation_p.P590S|LAMB4_ENST00000418464.1_Missense_Mutation_p.P590S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P590S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P590S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	590	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.P590S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CATGTAACAGGGTTCCCAGGA	0.512																																																	1	Substitution - Missense(1)	kidney(1)											67.0	62.0	63.0					7																	107720165		2203	4300	6503	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1768C>T	7.37:g.107720165G>A	ENSP00000373433:p.Pro590Ser		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538167	0.27475	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.29655	1.57;1.57;1.59;1.56;1.61	5.31	4.41	0.53225	Laminin IV (1);	0.132116	0.34802	N	0.003666	T	0.25791	0.0628	L	0.44542	1.39	0.09310	N	1	P	0.48407	0.91	P	0.45099	0.469	T	0.08432	-1.0722	10	0.09084	T	0.74	.	10.349	0.43922	0.0:0.2495:0.614:0.1366	.	590	A4D0S4	LAMB4_HUMAN	S	590	ENSP00000205386:P590S;ENSP00000373433:P590S;ENSP00000373432:P590S;ENSP00000402353:P590S;ENSP00000402265:P590S	ENSP00000205386:P590S	P	-	1	0	LAMB4	107507401	0.341000	0.24801	0.006000	0.13384	0.940000	0.58332	2.087000	0.41653	1.432000	0.47375	0.655000	0.94253	CCT		0.512	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1		XM_209857	
LARS	51520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145557190	145557190	+	Silent	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr5:145557190C>T	ENST00000394434.2	-	2	211	c.45G>A	c.(43-45)aaG>aaA	p.K15K	LARS_ENST00000545646.1_Silent_p.K15K|LARS_ENST00000274562.9_Silent_p.K15K|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000510191.1_Intron	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	15					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.K15K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTTTCTCAATCTTCTTCAAAA	0.363																																																	1	Substitution - coding silent(1)	kidney(1)											134.0	127.0	129.0					5																	145557190		2203	4299	6502	SO:0001819	synonymous_variant	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.45G>A	5.37:g.145557190C>T			A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	CCDS34265.1																																																																																				0.363	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1		NM_020117	
LZTS1	11178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	20107281	20107281	+	Silent	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr8:20107281C>T	ENST00000381569.1	-	4	2100	c.1743G>A	c.(1741-1743)ctG>ctA	p.L581L	LZTS1_ENST00000265801.6_Silent_p.L581L|LZTS1_ENST00000522290.1_Silent_p.L522L			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	581					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L581L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CAGCCCCTTCCAGGTCAACCT	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											77.0	73.0	74.0					8																	20107281		2203	4300	6503	SO:0001819	synonymous_variant	11178			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1743G>A	8.37:g.20107281C>T			D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	CCDS6015.1																																																																																				0.657	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1		NM_021020	
MIR222	407007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	45606471	45606471	+	RNA	SNP	C	C	T	rs72631825	byFrequency	TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:45606471C>T	ENST00000384992.1	-	0	59				MIR221_ENST00000385135.1_RNA	NR_029636.1				microRNA 222																		CTGCTGATTACGAAAGACAGG	0.493													C|||	1	0.000264901	0.0008	0.0	3775	,	,		11556	0.0		0.0	False		,,,				2504	0.0																0													46.0	39.0	41.0					X																	45606471		1568	3582	5150			407007					Xp11.3	2011-09-12		2008-12-18	ENSG00000207725	ENSG00000207725		"""ncRNAs / Micro RNAs"""	31602	non-coding RNA	RNA, micro		300569		MIRN222			Standard	NR_029636		Approved	hsa-mir-222	uc011mlf.1				X.37:g.45606471C>T				RNA	SNP	ENST00000384992.1	37																																																																																					0.493	MIR222-201	KNOWN	basic	miRNA	miRNA			NR_029636	
MLXIPL	51085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	73011232	73011232	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr7:73011232A>G	ENST00000313375.3	-	10	1681	c.1634T>C	c.(1633-1635)cTt>cCt	p.L545P	MLXIPL_ENST00000429400.2_Missense_Mutation_p.L545P|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L545P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L452P|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L452P|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L545P	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	545					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L545P(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTGGATACAAGTGGTGGCTC	0.672																																																	1	Substitution - Missense(1)	kidney(1)											51.0	56.0	54.0					7																	73011232		2203	4300	6503	SO:0001583	missense	51085			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1634T>C	7.37:g.73011232A>G	ENSP00000320886:p.Leu545Pro		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	a	4.751	0.139723	0.09083	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.25414	2.44;2.42;2.41;2.45;1.81;1.8	4.17	0.383	0.16239	.	1.280160	0.05420	U	0.544034	T	0.15132	0.0365	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.17667	0.012;0.023;0.002;0.004;0.004;0.004	B;B;B;B;B;B	0.15870	0.008;0.012;0.006;0.014;0.009;0.009	T	0.29610	-1.0006	10	0.33141	T	0.24	-3.7293	6.4484	0.21890	0.6425:0.0:0.3575:0.0	.	452;452;545;545;545;545	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	P	545;545;545;545;452;452	ENSP00000412330:L545P;ENSP00000406296:L545P;ENSP00000320886:L545P;ENSP00000346629:L545P;ENSP00000378616:L452P;ENSP00000392636:L452P	ENSP00000320886:L545P	L	-	2	0	MLXIPL	72649168	0.000000	0.05858	0.021000	0.16686	0.826000	0.46750	-0.052000	0.11865	0.154000	0.19237	0.348000	0.21847	CTT		0.672	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1		NM_032951	
MORC1	27136	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	108788593	108788593	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:108788593C>T	ENST00000483760.1	-	9	744	c.701G>A	c.(700-702)aGg>aAg	p.R234K	MORC1_ENST00000232603.5_Missense_Mutation_p.R234K					MORC family CW-type zinc finger 1									p.R234K(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GAATGACCACCTCGCTGGGAA	0.358																																																	1	Substitution - Missense(1)	kidney(1)											90.0	87.0	88.0					3																	108788593		2203	4300	6503	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.701G>A	3.37:g.108788593C>T	ENSP00000417282:p.Arg234Lys			Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	C	11.87	1.768444	0.31320	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06068	3.35;3.35	4.93	3.1	0.35709	ATPase-like, ATP-binding domain (1);	0.253345	0.28470	N	0.015225	T	0.06872	0.0175	M	0.66939	2.045	0.30657	N	0.754762	P;B	0.43094	0.799;0.053	B;B	0.35182	0.197;0.04	T	0.13818	-1.0495	10	0.28530	T	0.3	-14.1038	8.2969	0.31990	0.0:0.754:0.1585:0.0875	.	234;234	E7ERX1;Q86VD1	.;MORC1_HUMAN	K	234	ENSP00000232603:R234K;ENSP00000417282:R234K	ENSP00000232603:R234K	R	-	2	0	MORC1	110271283	0.977000	0.34250	0.998000	0.56505	0.392000	0.30506	2.382000	0.44345	0.751000	0.32900	0.655000	0.94253	AGG		0.358	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			
MPPED2	744	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	30557623	30557623	+	Silent	SNP	A	A	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr11:30557623A>T	ENST00000358117.5	-	2	350	c.228T>A	c.(226-228)ccT>ccA	p.P76P	MPPED2_ENST00000448418.2_Silent_p.P76P	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	76					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.P76P(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TGTCCCCATAAGGCATCTGGA	0.517																																																	2	Substitution - coding silent(2)	kidney(2)											118.0	114.0	115.0					11																	30557623		2202	4299	6501	SO:0001819	synonymous_variant	744			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.228T>A	11.37:g.30557623A>T			D3DQZ5|E9PB10|Q59GE6	Silent	SNP	ENST00000358117.5	37	CCDS7870.1																																																																																				0.517	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2		NM_001584	
MTMR1	8776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	149900042	149900042	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:149900042A>C	ENST00000370390.3	+	8	975	c.818A>C	c.(817-819)gAt>gCt	p.D273A	MTMR1_ENST00000445323.2_Missense_Mutation_p.D281A|MTMR1_ENST00000451863.2_Missense_Mutation_p.D273A|MTMR1_ENST00000541925.1_Missense_Mutation_p.D179A|MTMR1_ENST00000544228.1_Missense_Mutation_p.D273A|MTMR1_ENST00000538506.1_Missense_Mutation_p.D160A|MTMR1_ENST00000542156.1_Missense_Mutation_p.D273A	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	273	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.D273A(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGTAAAAGATGATGACCTT	0.368																																																	1	Substitution - Missense(1)	kidney(1)											118.0	110.0	113.0					X																	149900042		2203	4300	6503	SO:0001583	missense	8776			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.818A>C	X.37:g.149900042A>C	ENSP00000359417:p.Asp273Ala		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.542106	0.85917	.	.	ENSG00000063601	ENST00000541925;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-2.96	5.42	5.42	0.78866	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.086000	0.85682	D	0.000000	D	0.97936	0.9321	H	0.97564	4.03	0.80722	D	1	P;D;D	0.55605	0.955;0.972;0.967	P;P;P	0.58577	0.841;0.822;0.659	D	0.99100	1.0843	9	.	.	.	.	14.7392	0.69440	1.0:0.0:0.0:0.0	.	273;281;273	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	A	179;273;273;281;273;273;160	ENSP00000441879:D179A;ENSP00000445281:D273A;ENSP00000359417:D273A;ENSP00000414178:D281A;ENSP00000440534:D273A;ENSP00000387446:D273A;ENSP00000443444:D160A	.	D	+	2	0	MTMR1	149650700	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	9.287000	0.95975	1.930000	0.55929	0.441000	0.28932	GAT		0.368	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2		NM_003828, NM_176789	
MUC6	4588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1016334	1016334	+	Missense_Mutation	SNP	G	G	C	rs368561583		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr11:1016334G>C	ENST00000421673.2	-	31	6517	c.6467C>G	c.(6466-6468)tCg>tGg	p.S2156W		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2156	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.S2156W(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AACAGAAGGCGATGAAGTCTG	0.552																																																	2	Substitution - Missense(2)	kidney(2)											54.0	57.0	56.0					11																	1016334		2065	4196	6261	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6467C>G	11.37:g.1016334G>C	ENSP00000406861:p.Ser2156Trp		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098607	0.37048	.	.	ENSG00000184956	ENST00000421673	T	0.24151	1.87	2.86	0.804	0.18697	.	.	.	.	.	T	0.26085	0.0636	N	0.22421	0.69	0.09310	N	1	D	0.59357	0.985	P	0.58721	0.844	T	0.11372	-1.0590	9	0.66056	D	0.02	.	4.4719	0.11717	0.1451:0.2319:0.623:0.0	.	2156	Q6W4X9	MUC6_HUMAN	W	2156	ENSP00000406861:S2156W	ENSP00000406861:S2156W	S	-	2	0	MUC6	1006334	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	0.325000	0.19628	0.049000	0.15920	0.297000	0.19635	TCG		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540	
NAALAD2	10003	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	89907078	89907078	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr11:89907078G>T	ENST00000534061.1	+	14	1727	c.1497G>T	c.(1495-1497)ttG>ttT	p.L499F	NAALAD2_ENST00000321955.4_Missense_Mutation_p.L466F|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	499	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.L499F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATAAAAATTTGCCTAGGTAAG	0.403																																																	1	Substitution - Missense(1)	kidney(1)											95.0	98.0	97.0					11																	89907078		2201	4299	6500	SO:0001583	missense	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1497G>T	11.37:g.89907078G>T	ENSP00000432481:p.Leu499Phe		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	2.225	-0.377371	0.05000	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.40756	1.02;1.02	5.95	-3.52	0.04682	Peptidase M28 (1);	1.406220	0.03997	N	0.295764	T	0.32285	0.0824	L	0.43152	1.355	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.15809	-1.0424	9	.	.	.	0.8432	7.5334	0.27695	0.0:0.3136:0.3462:0.3402	.	499	Q9Y3Q0	NALD2_HUMAN	F	499;466	ENSP00000432481:L499F;ENSP00000320083:L466F	.	L	+	3	2	NAALAD2	89546726	0.000000	0.05858	0.023000	0.16930	0.698000	0.40448	-0.939000	0.03933	-0.545000	0.06224	-0.262000	0.10625	TTG		0.403	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2		NM_005467	
NFYC	4802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	41218906	41218906	+	Silent	SNP	T	T	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:41218906T>G	ENST00000308733.5	+	4	381	c.375T>G	c.(373-375)ccT>ccG	p.P125P	NFYC_ENST00000372652.1_Silent_p.P125P|NFYC_ENST00000447388.3_Silent_p.P125P|NFYC_ENST00000456393.2_Silent_p.P125P|NFYC_ENST00000425457.2_Silent_p.P125P|NFYC_ENST00000427410.2_Silent_p.P87P|NFYC_ENST00000372651.1_Silent_p.P125P|MIR30E_ENST00000362104.1_RNA|NFYC_ENST00000440226.3_Silent_p.P125P|NFYC_ENST00000372653.1_Silent_p.P125P|NFYC_ENST00000372654.1_Silent_p.P125P			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	125					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.P125P(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			AACTGAAACCTCCAAAGCGTC	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	79.0	82.0					1																	41218906		2203	4300	6503	SO:0001819	synonymous_variant	4802			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.375T>G	1.37:g.41218906T>G			B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Silent	SNP	ENST00000308733.5	37		.	.	.	.	.	.	.	.	.	.	T	8.059	0.767725	0.15983	.	.	ENSG00000066136	ENST00000414185	.	.	.	6.17	2.55	0.30701	.	.	.	.	.	T	0.53690	0.1812	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44081	-0.9351	4	.	.	.	.	5.5429	0.17047	0.2845:0.0734:0.0:0.6421	.	.	.	.	A	8	.	.	S	+	1	0	NFYC	40991493	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.693000	0.25497	0.508000	0.28173	-0.336000	0.08194	TCC		0.428	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1		NM_014223	
NLRC3	197358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3614126	3614127	+	RNA	DNP	GC	GC	AT			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr16:3614126_3614127GC>AT	ENST00000301749.7	-	0	1216_1217				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.A318I(1)|p.A318T(1)|p.A318V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGGCCAGATGCACTGGGACGG	0.584																																																	3	Substitution - Missense(3)	kidney(3)																																										197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561	ENST00000301749.7:c.811_812delinsAT	16.37:g.3614126_3614127delinsAT			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37																																																																																					0.584	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene			NM_178844	
NOTCH4	4855	broad.mit.edu;hgsc.bcm.edu	37	6	32170158	32170158	+	Silent	SNP	C	C	T	rs541604461		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr6:32170158C>T	ENST00000375023.3	-	21	3588	c.3450G>A	c.(3448-3450)acG>acA	p.T1150T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1150	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.T1150T(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCCCCAAGCCCGTGGTCTCTG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		16973	0.0		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											15.0	16.0	16.0					6																	32170158		1503	2704	4207	SO:0001819	synonymous_variant	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3450G>A	6.37:g.32170158C>T			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	CCDS34420.1																																																																																				0.642	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			
OPA1	4976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	193355797	193355797	+	Silent	SNP	C	C	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:193355797C>G	ENST00000392438.3	+	9	1161	c.927C>G	c.(925-927)gcC>gcG	p.A309A	OPA1_ENST00000361908.3_Silent_p.A346A|OPA1_ENST00000361715.2_Silent_p.A328A|OPA1_ENST00000361510.2_Silent_p.A364A|OPA1_ENST00000361828.2_Silent_p.A327A|OPA1_ENST00000361150.2_Silent_p.A310A	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	309	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.A364A(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAATGATTGCCCAAGCTCGAA	0.433																																																	1	Substitution - coding silent(1)	kidney(1)											183.0	170.0	175.0					3																	193355797		2203	4300	6503	SO:0001819	synonymous_variant	4976			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.927C>G	3.37:g.193355797C>G			D3DNW4	Silent	SNP	ENST00000392438.3	37	CCDS43186.1																																																																																				0.433	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2		NM_130837	
OR12D3	81797	broad.mit.edu;hgsc.bcm.edu	37	6	29342284	29342284	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr6:29342284G>A	ENST00000396806.3	-	1	784	c.781C>T	c.(781-783)Cct>Tct	p.P261S	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P261S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GCTGAAGCAGGACGAATATAT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											83.0	76.0	79.0					6																	29342284		1510	2708	4218	SO:0001583	missense	81797				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.781C>T	6.37:g.29342284G>A	ENSP00000380023:p.Pro261Ser		A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177012	0.38413	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.00262	8.4	4.19	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	M	0.73962	2.25	0.18873	N	0.999987	P	0.44195	0.828	P	0.50934	0.654	T	0.09907	-1.0653	9	0.66056	D	0.02	-12.2264	11.5625	0.50785	0.0895:0.0:0.9105:0.0	.	261	Q9UGF7	O12D3_HUMAN	S	261	ENSP00000380023:P261S	ENSP00000366348:P261S	P	-	1	0	OR12D3	29450263	0.001000	0.12720	0.005000	0.12908	0.271000	0.26615	0.254000	0.18314	0.964000	0.38108	0.205000	0.17691	CCT		0.488	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			
OSBPL8	114882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	76786494	76786494	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr12:76786494A>G	ENST00000261183.3	-	10	1275	c.796T>C	c.(796-798)Tgt>Cgt	p.C266R	OSBPL8_ENST00000393250.4_Missense_Mutation_p.C224R|OSBPL8_ENST00000393249.2_Missense_Mutation_p.C224R	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	266					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.C266R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AGACTAGAACATTTCAAAGCC	0.378																																																	1	Substitution - Missense(1)	kidney(1)											184.0	152.0	163.0					12																	76786494		2203	4300	6503	SO:0001583	missense	114882			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.796T>C	12.37:g.76786494A>G	ENSP00000261183:p.Cys266Arg		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425602	0.83667	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.54675	1.07;0.99;1.07;0.56;0.57	5.63	5.63	0.86233	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.77557	0.99;0.954	T	0.72584	-0.4249	10	0.54805	T	0.06	-12.0111	16.1307	0.81436	1.0:0.0:0.0:0.0	.	241;266	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	R	224;266;251;224;266;266;241	ENSP00000376939:C224R;ENSP00000261183:C266R;ENSP00000376940:C224R;ENSP00000450238:C266R;ENSP00000447893:C241R	ENSP00000261183:C266R	C	-	1	0	OSBPL8	75310625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.263000	0.75096	0.533000	0.62120	TGT		0.378	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1		NM_020841	
OTX1	5013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	63282664	63282664	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:63282664G>C	ENST00000282549.2	+	5	554	c.278G>C	c.(277-279)tGc>tCc	p.C93S	OTX1_ENST00000366671.3_Missense_Mutation_p.C93S	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	93					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.C93Y(1)|p.C93S(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CGCGCCAAATGCCGCCAGCAG	0.657																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											20.0	24.0	23.0					2																	63282664		2202	4300	6502	SO:0001583	missense	5013				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.278G>C	2.37:g.63282664G>C	ENSP00000282549:p.Cys93Ser		A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	g	13.59	2.282987	0.40394	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.95821	-3.82;-3.82	3.64	2.76	0.32466	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.058969	0.64402	D	0.000001	D	0.91081	0.7193	N	0.02708	-0.52	0.51482	D	0.999928	P	0.36577	0.558	P	0.50270	0.636	D	0.90248	0.4291	10	0.54805	T	0.06	.	11.6771	0.51436	0.0:0.0:0.8206:0.1794	.	93	P32242	OTX1_HUMAN	S	93	ENSP00000355631:C93S;ENSP00000282549:C93S	ENSP00000282549:C93S	C	+	2	0	OTX1	63136168	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	7.651000	0.83577	0.884000	0.36064	-0.216000	0.12614	TGC		0.657	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			
PARD6A	50855	hgsc.bcm.edu	37	16	67695546	67695547	+	Frame_Shift_Ins	INS	-	-	C	rs188685722		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr16:67695546_67695547insC	ENST00000219255.3	+	2	332_333	c.252_253insC	c.(253-255)cccfs	p.P85fs	ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank|PARD6A_ENST00000602551.1_Intron|ENKD1_ENST00000602409.1_5'Flank|PARD6A_ENST00000458121.2_Frame_Shift_Ins_p.P85fs			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	85	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGCCAGCGGGCCCCCGCCACT	0.658																																																	0																																										SO:0001589	frameshift_variant	50855				CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.257dupC	16.37:g.67695551_67695551dupC	ENSP00000219255:p.Pro85fs		O14911|Q9NPJ7	Frame_Shift_Ins	INS	ENST00000219255.3	37	CCDS10843.1																																																																																				0.658	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2		NM_016948	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52651339	52651339	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:52651339A>T	ENST00000296302.7	-	14	1758	c.1757T>A	c.(1756-1758)aTg>aAg	p.M586K	PBRM1_ENST00000409767.1_Missense_Mutation_p.M601K|PBRM1_ENST00000410007.1_Missense_Mutation_p.M586K|PBRM1_ENST00000356770.4_Missense_Mutation_p.M554K|PBRM1_ENST00000337303.4_Missense_Mutation_p.M586K|PBRM1_ENST00000409114.3_Missense_Mutation_p.M601K|PBRM1_ENST00000394830.3_Missense_Mutation_p.M586K|PBRM1_ENST00000409057.1_Missense_Mutation_p.M586K			Q86U86	PB1_HUMAN	polybromo 1	586	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.M586T(2)|p.M586K(2)|p.M554T(1)|p.M554K(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTCTTCTATCATTCCCTCTTC	0.443			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Missense(6)	kidney(6)											118.0	107.0	111.0					3																	52651339		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1757T>A	3.37:g.52651339A>T	ENSP00000296302:p.Met586Lys		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	19.30	3.800429	0.70567	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.84	5.84	0.93424	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	M	0.83603	2.65	0.80722	D	1	P;P;P;P;B;P;P;B;P	0.50066	0.676;0.799;0.711;0.489;0.226;0.799;0.888;0.208;0.931	P;P;P;B;B;P;P;B;D	0.69824	0.493;0.731;0.89;0.408;0.148;0.561;0.606;0.205;0.966	T	0.65344	-0.6191	10	0.87932	D	0	-18.2278	16.2167	0.82231	1.0:0.0:0.0:0.0	.	586;586;586;586;601;601;586;554;586	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	K	554;586;586;586;586;586;601;601;586;545	ENSP00000349213:M554K;ENSP00000378307:M586K;ENSP00000296302:M586K;ENSP00000338302:M586K;ENSP00000386593:M586K;ENSP00000386529:M586K;ENSP00000386643:M601K;ENSP00000386601:M601K;ENSP00000387775:M586K;ENSP00000397662:M545K	ENSP00000296302:M586K	M	-	2	0	PBRM1	52626379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.231000	0.72958	0.533000	0.62120	ATG		0.443	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PBX2	5089	hgsc.bcm.edu	37	6	32155054	32155054	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr6:32155054C>T	ENST00000375050.4	-	6	1259	c.989G>A	c.(988-990)aGc>aAc	p.S330N	XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375076.4_5'Flank|AGER_ENST00000375070.3_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	330					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCTGGTGCGGCTGTGGCCCCC	0.547																																																	0													51.0	54.0	53.0					6																	32155054		1511	2708	4219	SO:0001583	missense	5089				CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.989G>A	6.37:g.32155054C>T	ENSP00000364190:p.Ser330Asn		A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360953	0.61403	.	.	ENSG00000204304	ENST00000375050	D	0.88201	-2.35	5.56	5.56	0.83823	.	0.000000	0.48767	U	0.000174	D	0.85991	0.5826	N	0.20685	0.6	0.80722	D	1	D;B	0.57899	0.981;0.002	D;B	0.65140	0.932;0.005	D	0.84072	0.0380	10	0.20519	T	0.43	-17.6179	17.012	0.86409	0.0:1.0:0.0:0.0	.	330;330	Q7KZE5;P40425	.;PBX2_HUMAN	N	330	ENSP00000364190:S330N	ENSP00000364190:S330N	S	-	2	0	PBX2	32263032	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.601000	0.54059	2.618000	0.88619	0.655000	0.94253	AGC		0.547	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			
PDYN	5173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	1961113	1961113	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr20:1961113A>T	ENST00000217305.2	-	4	846	c.621T>A	c.(619-621)taT>taA	p.Y207*	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Nonsense_Mutation_p.Y207*|PDYN_ENST00000539905.1_Nonsense_Mutation_p.Y207*	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	207					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.Y207*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAAGCCCCCATAGCGTTTGT	0.597																																																	1	Substitution - Nonsense(1)	kidney(1)											104.0	115.0	112.0					20																	1961113		2203	4300	6503	SO:0001587	stop_gained	5173				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.621T>A	20.37:g.1961113A>T	ENSP00000217305:p.Tyr207*		A8K0Q3	Nonsense_Mutation	SNP	ENST00000217305.2	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.007804	0.93287	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	.	.	.	5.0	-6.12	0.02124	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4342	18.1854	0.89791	0.2596:0.0:0.7404:0.0	.	.	.	.	X	207	.	ENSP00000217305:Y207X	Y	-	3	2	PDYN	1909113	0.000000	0.05858	0.901000	0.35422	0.973000	0.67179	-1.998000	0.01469	-1.206000	0.02641	0.260000	0.18958	TAT		0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			
PEG3	5178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57327461	57327461	+	Silent	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr19:57327461G>T	ENST00000326441.9	-	10	2712	c.2349C>A	c.(2347-2349)gcC>gcA	p.A783A	PEG3_ENST00000598410.1_Silent_p.A659A|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.A657A|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Silent_p.A783A	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	783					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A783A(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCCACAGAGGCTAAGCTAT	0.428																																																	2	Substitution - coding silent(2)	kidney(2)											184.0	179.0	181.0					19																	57327461		2203	4300	6503	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2349C>A	19.37:g.57327461G>T			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.428	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			
PKNOX1	5316	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	44448816	44448816	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr21:44448816A>T	ENST00000291547.5	+	10	1142	c.931A>T	c.(931-933)Atc>Ttc	p.I311F	PKNOX1_ENST00000607150.1_3'UTR|PKNOX1_ENST00000432907.2_Missense_Mutation_p.I194F	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	311					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I311F(1)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CTCCAGGTTCATCAATGCCAG	0.428																																																	1	Substitution - Missense(1)	kidney(1)											185.0	201.0	195.0					21																	44448816		2203	4300	6503	SO:0001583	missense	5316				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.931A>T	21.37:g.44448816A>T	ENSP00000291547:p.Ile311Phe		O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.755780	0.89843	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.95238	-3.65;-3.65	5.38	5.38	0.77491	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	D	0.99797	1.1034	10	0.87932	D	0	-19.3003	15.6907	0.77450	1.0:0.0:0.0:0.0	.	311;311	P55347;P55347-2	PKNX1_HUMAN;.	F	311;194	ENSP00000291547:I311F;ENSP00000402243:I194F	ENSP00000291547:I311F	I	+	1	0	PKNOX1	43321885	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.355000	0.90083	2.170000	0.68504	0.528000	0.53228	ATC		0.428	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			
PLA2G4D	283748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42363506	42363506	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr15:42363506G>A	ENST00000290472.3	-	17	1785	c.1691C>T	c.(1690-1692)cCc>cTc	p.P564L		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	564	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.P564L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGTGGTCAGGGGCTCCTTCTC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											30.0	36.0	34.0					15																	42363506		2201	4299	6500	SO:0001583	missense	283748			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1691C>T	15.37:g.42363506G>A	ENSP00000290472:p.Pro564Leu		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	G	9.316	1.056878	0.19907	.	.	ENSG00000159337	ENST00000290472	T	0.04706	3.57	5.23	4.3	0.51218	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.486688	0.19178	N	0.120778	T	0.04907	0.0132	L	0.45581	1.43	0.09310	N	1	B	0.20780	0.048	B	0.19391	0.025	T	0.42241	-0.9463	10	0.07325	T	0.83	-1.7271	10.2875	0.43575	0.0929:0.0:0.9071:0.0	.	564	Q86XP0	PA24D_HUMAN	L	564	ENSP00000290472:P564L	ENSP00000290472:P564L	P	-	2	0	PLA2G4D	40150798	0.004000	0.15560	0.004000	0.12327	0.270000	0.26580	1.145000	0.31577	1.194000	0.43101	0.650000	0.86243	CCC		0.607	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1		NM_178034	
PNPLA4	8228	broad.mit.edu;hgsc.bcm.edu	37	X	7889834	7889834	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:7889834G>T	ENST00000381042.4	-	4	501	c.331C>A	c.(331-333)Ctg>Atg	p.L111M	PNPLA4_ENST00000537427.1_Missense_Mutation_p.L24M|PNPLA4_ENST00000444736.1_Missense_Mutation_p.L111M	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	111	Patatin.				lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)	p.L111M(1)|p.R110_L111insR(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GATACGTGCAGTCGGTTCTGG	0.453																																																	2	Insertion - In frame(1)|Substitution - Missense(1)	large_intestine(1)|kidney(1)											127.0	108.0	115.0					X																	7889834		2203	4299	6502	SO:0001583	missense	8228			U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"""Patatin-like phospholipase domain containing"""	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.331C>A	X.37:g.7889834G>T	ENSP00000370430:p.Leu111Met		A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972212	0.53614	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427;ENST00000442940	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	4.69	4.69	0.59074	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	D	0.91597	0.7345	M	0.85945	2.785	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.92977	0.6403	10	0.66056	D	0.02	-17.7322	15.4728	0.75453	0.0:0.0:1.0:0.0	.	111	P41247	PLPL4_HUMAN	M	111;111;24;111	ENSP00000370430:L111M;ENSP00000415245:L111M;ENSP00000443157:L24M;ENSP00000406698:L111M	ENSP00000370430:L111M	L	-	1	2	PNPLA4	7849834	1.000000	0.71417	0.018000	0.16275	0.327000	0.28475	5.367000	0.66127	1.941000	0.56285	0.600000	0.82982	CTG		0.453	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1		NM_004650	
PROC	5624	broad.mit.edu;hgsc.bcm.edu	37	2	128186505	128186505	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:128186505A>C	ENST00000234071.3	+	9	1456	c.1369A>C	c.(1369-1371)Aag>Cag	p.K457Q	PROC_ENST00000409048.1_Missense_Mutation_p.K491Q|PROC_ENST00000422777.3_Missense_Mutation_p.K457Q|PROC_ENST00000453608.2_Missense_Mutation_p.K512Q	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	457					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.K457Q(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGCCCCCCAGAAGAGCTGGGC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											67.0	67.0	67.0					2																	128186505		2203	4300	6503	SO:0001583	missense	5624			X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1369A>C	2.37:g.128186505A>C	ENSP00000234071:p.Lys457Gln		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	CCDS2145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.40|12.40	1.926121|1.926121	0.34002|0.34002	.|.	.|.	ENSG00000115718|ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777|ENST00000402125	D;D;D;D|.	0.92299|.	-2.98;-3.01;-3.01;-2.98|.	4.95|4.95	-9.9|-9.9	0.00461|0.00461	.|.	1.176010|.	0.06387|.	N|.	0.716379|.	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.05078|0.05078	-0.115|-0.115	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.16603|.	0.008;0.008;0.018;0.008|.	B;B;B;B|.	0.14023|.	0.01;0.006;0.005;0.006|.	T|T	0.32268|0.32268	-0.9913|-0.9913	10|5	0.45353|.	T|.	0.12|.	.|.	11.3529|11.3529	0.49598|0.49598	0.6915:0.2026:0.1059:0.0|0.6915:0.2026:0.1059:0.0	.|.	512;513;491;457|.	B4DPQ7;B4DPQ3;E7END6;P04070|.	.;.;.;PROC_HUMAN|.	Q|S	457;416;512;491;457|231	ENSP00000234071:K457Q;ENSP00000404030:K512Q;ENSP00000386679:K491Q;ENSP00000409543:K457Q|.	ENSP00000234071:K457Q|.	K|R	+|+	1|3	0|2	PROC|PROC	127902975|127902975	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.804000|-0.804000	0.04535|0.04535	-1.890000|-1.890000	0.01111|0.01111	-0.993000|-0.993000	0.02533|0.02533	AAG|AGA		0.572	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2		NM_000312	
PSAPL1	768239	broad.mit.edu	37	4	7436245	7436245	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr4:7436245A>G	ENST00000319098.4	-	1	455	c.362T>C	c.(361-363)aTg>aCg	p.M121T	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000511199.1_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	121	Saposin B-type 1. {ECO:0000255|PROSITE- ProRule:PRU00415}.				sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)		p.M121T(1)		lung(4)	4						CCCACGGAGCATGCTCAGGAT	0.652																																																	1	Substitution - Missense(1)	kidney(1)											24.0	25.0	25.0					4																	7436245		2067	4190	6257	SO:0001583	missense	768239			DQ991252	CCDS47009.1	4p16.1	2010-03-12	2010-03-12			ENSG00000178597			33131	protein-coding gene	gene with protein product			"""prosaposin-like 1"""				Standard	NM_001085382		Approved		uc011bwj.2	Q6NUJ1		ENST00000319098.4:c.362T>C	4.37:g.7436245A>G	ENSP00000317445:p.Met121Thr		A0A184|Q8N7T4	Missense_Mutation	SNP	ENST00000319098.4	37	CCDS47009.1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.874054	0.33069	.	.	ENSG00000178597	ENST00000319098	D	0.83914	-1.78	3.47	2.3	0.28687	Saposin-like (2);Saposin B (2);	.	.	.	.	T	0.80281	0.4594	M	0.77313	2.365	0.19300	N	0.99997	P	0.47409	0.895	B	0.41332	0.354	T	0.73789	-0.3872	9	0.72032	D	0.01	.	4.8296	0.13434	0.8547:0.0:0.1453:0.0	.	121	Q6NUJ1	SAPL1_HUMAN	T	121	ENSP00000317445:M121T	ENSP00000317445:M121T	M	-	2	0	PSAPL1	7487146	0.017000	0.18338	0.905000	0.35620	0.019000	0.09904	0.629000	0.24538	1.587000	0.49959	0.459000	0.35465	ATG		0.652	PSAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358859.1			
RBM15	64783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110883213	110883213	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:110883213C>T	ENST00000369784.3	+	1	2086	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Missense_Mutation_p.R396C|RBM15_ENST00000487146.2_Missense_Mutation_p.R396C	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	396	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R396C(2)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCGTTTGATCGCTTTGGAGT	0.473			T	MKL1	acute megakaryocytic leukemia																																			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	2	Substitution - Missense(2)	kidney(1)|endometrium(1)											57.0	58.0	58.0					1																	110883213		2203	4300	6503	SO:0001583	missense	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1186C>T	1.37:g.110883213C>T	ENSP00000358799:p.Arg396Cys		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209728	0.58343	.	.	ENSG00000162775	ENST00000369784	T	0.16457	2.34	4.69	4.69	0.59074	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.44483	D	0.000450	T	0.37376	0.1001	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.987;0.998	T	0.34551	-0.9824	10	0.87932	D	0	-6.4088	17.7957	0.88570	0.0:1.0:0.0:0.0	.	396;396	Q96T37-3;Q96T37	.;RBM15_HUMAN	C	396	ENSP00000358799:R396C	ENSP00000358799:R396C	R	+	1	0	RBM15	110684736	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	2.159000	0.42339	2.446000	0.82766	0.655000	0.94253	CGC		0.473	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2		NM_022768	
SHOC2	8036	broad.mit.edu	37	10	112696573	112696573	+	Intron	SNP	T	T	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr10:112696573T>C	ENST00000369452.4	+	1	111				SHOC2_ENST00000265277.5_Intron|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)						fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.H140R(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GTGAGCCAGGTGCCCCAGATA	0.537																																																	2	Substitution - Missense(2)	prostate(1)|kidney(1)																																								SO:0001627	intron_variant	644511			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.-235+17158T>C	10.37:g.112696573T>C			A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	CCDS7568.1																																																																																				0.537	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1		NM_007373	
SIGLEC8	27181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51961243	51961243	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr19:51961243C>G	ENST00000321424.3	-	1	465	c.399G>C	c.(397-399)tgG>tgC	p.W133C	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.W133C|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W133C	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	133					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.W133C(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATTTGTAACTCCATTTCATGC	0.502																																																	1	Substitution - Missense(1)	kidney(1)											122.0	123.0	122.0					19																	51961243		2203	4300	6503	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.399G>C	19.37:g.51961243C>G	ENSP00000321077:p.Trp133Cys		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	9.854	1.194411	0.22037	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.46063	0.88;0.88;1.96	2.56	-5.13	0.02884	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.059810	0.02660	U	0.107373	T	0.61400	0.2344	M	0.82923	2.615	0.09310	N	1	D;D;D	0.76494	0.992;0.999;0.999	P;P;D	0.66084	0.479;0.906;0.941	T	0.63607	-0.6599	10	0.72032	D	0.01	.	6.2222	0.20687	0.1992:0.5412:0.2596:0.0	.	133;133;133	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	C	133	ENSP00000389142:W133C;ENSP00000321077:W133C;ENSP00000339448:W133C	ENSP00000321077:W133C	W	-	3	0	SIGLEC8	56653055	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.492000	0.22435	-1.417000	0.02017	0.398000	0.26397	TGG		0.502	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2		NM_014442	
SLC35F5	80255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	114512805	114512805	+	Silent	SNP	A	A	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:114512805A>C	ENST00000245680.2	-	3	623	c.210T>G	c.(208-210)gcT>gcG	p.A70A	SLC35F5_ENST00000409342.1_Silent_p.A64A	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	70					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.A70A(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CAATCCCAAGAGCCATTCGCC	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											87.0	84.0	85.0					2																	114512805		2203	4300	6503	SO:0001819	synonymous_variant	80255			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.210T>G	2.37:g.114512805A>C			Q9H6P8|Q9H7D8	Silent	SNP	ENST00000245680.2	37	CCDS2119.1																																																																																				0.408	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1		NM_025181	
SLC37A1	54020	hgsc.bcm.edu	37	21	43962544	43962545	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr21:43962544_43962545insG	ENST00000352133.2	+	7	1499_1500	c.517_518insG	c.(517-519)tggfs	p.W173fs	SLC37A1_ENST00000398341.3_Frame_Shift_Ins_p.W173fs			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	173					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GACCACCGGCTGGCCCAGCGTC	0.569																																																	0																																										SO:0001589	frameshift_variant	54020			AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.519dupG	21.37:g.43962546_43962546dupG	ENSP00000344648:p.Trp173fs		D3DSJ7|Q9HAQ1	Frame_Shift_Ins	INS	ENST00000352133.2	37	CCDS13689.1																																																																																				0.569	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			
SLC39A10	57181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	196545178	196545178	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:196545178G>T	ENST00000409086.3	+	2	687	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	SLC39A10_ENST00000359634.5_Nonsense_Mutation_p.E138*|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	138	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.E138*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTTAAATTCAGAAAATCAAAC	0.353																																																	1	Substitution - Nonsense(1)	kidney(1)											61.0	60.0	60.0					2																	196545178		2203	4300	6503	SO:0001587	stop_gained	57181				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.412G>T	2.37:g.196545178G>T	ENSP00000386766:p.Glu138*		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Nonsense_Mutation	SNP	ENST00000409086.3	37	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	37	6.026325	0.97216	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	.	.	.	4.91	4.91	0.64330	.	0.166295	0.39687	N	0.001297	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2992	0.90158	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	.	E	+	1	0	SLC39A10	196253423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.364000	0.66110	2.557000	0.86248	0.655000	0.94253	GAA		0.353	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1		XM_047707	
SLC9A9	285195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	142987800	142987800	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:142987800G>T	ENST00000316549.6	-	15	1835	c.1627C>A	c.(1627-1629)Cac>Aac	p.H543N		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	543					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.H543N(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GGACCAGAGTGGGTTAAAATT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											146.0	143.0	144.0					3																	142987800		2203	4300	6503	SO:0001583	missense	285195			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1627C>A	3.37:g.142987800G>T	ENSP00000320246:p.His543Asn		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628210	0.46944	.	.	ENSG00000181804	ENST00000316549	T	0.61274	0.12	5.69	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.73372	2.23	0.51233	D	0.999917	D	0.57899	0.981	D	0.67900	0.954	T	0.73319	-0.4020	10	0.35671	T	0.21	.	16.1329	0.81458	0.0:0.0:0.8654:0.1346	.	543	Q8IVB4	SL9A9_HUMAN	N	543	ENSP00000320246:H543N	ENSP00000320246:H543N	H	-	1	0	SLC9A9	144470490	1.000000	0.71417	0.989000	0.46669	0.351000	0.29236	7.103000	0.77014	1.389000	0.46526	0.655000	0.94253	CAC		0.468	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1		NM_173653	
SNRNP48	154007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7605680	7605680	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr6:7605680G>A	ENST00000342415.5	+	7	826	c.767G>A	c.(766-768)tGg>tAg	p.W256*		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	256					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)	p.W256*(1)		kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGCAATCATTGGCAAGAAGAG	0.383																																																	1	Substitution - Nonsense(1)	kidney(1)											129.0	111.0	117.0					6																	7605680		2203	4300	6503	SO:0001587	stop_gained	154007			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.767G>A	6.37:g.7605680G>A	ENSP00000339834:p.Trp256*		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Nonsense_Mutation	SNP	ENST00000342415.5	37	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090974	0.76756	.	.	ENSG00000168566	ENST00000342415	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6761	17.853	0.88754	0.0:0.0:1.0:0.0	.	.	.	.	X	256	.	ENSP00000339834:W256X	W	+	2	0	SNRNP48	7550679	1.000000	0.71417	0.987000	0.45799	0.159000	0.22180	8.309000	0.89969	2.816000	0.96949	0.561000	0.74099	TGG		0.383	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3		NM_152551	
EIF4EBP3	8637	hgsc.bcm.edu	37	5	139931629	139931629	+	IGR	SNP	C	C	G	rs5871740|rs368142622|rs202193903	byFrequency	TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr5:139931629C>G	ENST00000310331.2	+	0	691				SRA1_ENST00000520427.1_5'UTR|SRA1_ENST00000336283.6_Missense_Mutation_p.V110L	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3						negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCCATCACAGCCTCAGAC	0.592																																																	0													82.0	59.0	67.0					5																	139931629		2202	4295	6497	SO:0001628	intergenic_variant	10011			AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498		5.37:g.139931629C>G				Missense_Mutation	SNP	ENST00000310331.2	37	CCDS4226.1	.	.	.	.	.	.	.	.	.	.	C	4.980	0.181983	0.09495	.	.	ENSG00000213523	ENST00000336283;ENST00000520427	T	0.40476	1.03	5.75	1.75	0.24633	.	0.938709	0.08826	N	0.888002	T	0.11196	0.0273	N	0.00560	-1.38	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.32052	-0.9921	9	.	.	.	.	3.3903	0.07286	0.0902:0.3003:0.4378:0.1718	.	110	Q9HD15	SRA1_HUMAN	L	110;36	ENSP00000337513:V110L	.	V	-	1	0	SRA1	139911813	0.037000	0.19845	0.998000	0.56505	0.973000	0.67179	-0.239000	0.08965	0.800000	0.34041	-0.211000	0.12701	GTG		0.592	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2		NM_003732	
TAF3	83860	broad.mit.edu	37	10	8051125	8051125	+	Silent	SNP	G	G	T	rs372196685		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr10:8051125G>T	ENST00000344293.5	+	5	2606	c.2400G>T	c.(2398-2400)gcG>gcT	p.A800A		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	800	Pro-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.A800A(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						cggcccccgcgcccgcccccg	0.761																																																	1	Substitution - coding silent(1)	kidney(1)											8.0	12.0	11.0					10																	8051125		1189	2881	4070	SO:0001819	synonymous_variant	83860			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2400G>T	10.37:g.8051125G>T			Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	CCDS41487.1																																																																																				0.761	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1		NM_031923	
TCF12	6938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	57565320	57565320	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr15:57565320G>A	ENST00000267811.5	+	18	2070	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	TCF12_ENST00000543579.1_Missense_Mutation_p.R443H|TCF12_ENST00000559710.1_Missense_Mutation_p.R223H|TCF12_ENST00000343827.3_Missense_Mutation_p.R419H|TCF12_ENST00000333725.5_Missense_Mutation_p.R613H|TCF12_ENST00000438423.2_Missense_Mutation_p.R613H|TCF12_ENST00000537840.1_Missense_Mutation_p.R353H|TCF12_ENST00000559703.1_Missense_Mutation_p.R246H|TCF12_ENST00000452095.2_Missense_Mutation_p.R609H|TCF12_ENST00000557843.1_Missense_Mutation_p.R589H	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	589	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.R613H(2)|p.R609H(2)|p.R419H(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GAACGCTTACGCGTGCGGGAT	0.428			T	TEC	extraskeletal myxoid chondrosarcoma																																			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	5	Substitution - Missense(5)	kidney(4)|large_intestine(1)											96.0	103.0	101.0					15																	57565320		2192	4292	6484	SO:0001583	missense	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1766G>A	15.37:g.57565320G>A	ENSP00000267811:p.Arg589His		Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390505	0.95988	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	D;D;D;D;D;D;D	0.99722	-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53	4.72	4.72	0.59763	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.994;0.999;1.0;0.989;0.999;0.997;0.994;0.995;0.991	D	0.96981	0.9715	10	0.87932	D	0	-14.1354	18.0262	0.89270	0.0:0.0:1.0:0.0	.	609;223;443;353;609;641;443;419;589;613	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	H	641;589;613;609;613;443;353;419;201	ENSP00000267811:R589H;ENSP00000388940:R613H;ENSP00000396881:R609H;ENSP00000331057:R613H;ENSP00000440017:R443H;ENSP00000444696:R353H;ENSP00000342459:R419H	ENSP00000267811:R589H	R	+	2	0	TCF12	55352612	1.000000	0.71417	0.992000	0.48379	0.951000	0.60555	9.683000	0.98657	2.329000	0.79093	0.655000	0.94253	CGC		0.428	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3		NM_003205	
THOC3	84321	broad.mit.edu	37	5	175387036	175387036	+	Missense_Mutation	SNP	C	C	T	rs139761351		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr5:175387036C>T	ENST00000265097.4	-	6	1082	c.992G>A	c.(991-993)gGc>gAc	p.G331D	THOC3_ENST00000514861.1_Missense_Mutation_p.G146D|THOC3_ENST00000510300.1_5'Flank|RP11-91H12.4_ENST00000502813.1_RNA	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	331					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.G331D(1)		endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GTCATATTTGCCGTCTTTGTC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											28.0	33.0	31.0					5																	175387036		1901	3659	5560	SO:0001583	missense	84321			BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"""WD repeat domain containing"", ""THO complex subunits"""	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.992G>A	5.37:g.175387036C>T	ENSP00000265097:p.Gly331Asp		Q6NZ53	Missense_Mutation	SNP	ENST00000265097.4	37	CCDS4397.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358184	0.61403	.	.	ENSG00000051596	ENST00000265097;ENST00000514861	T;T	0.75154	0.23;-0.91	5.13	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	N	0.20685	0.6	0.80722	D	1	P	0.36086	0.536	B	0.27380	0.079	T	0.56571	-0.7957	10	0.38643	T	0.18	-22.839	12.6741	0.56884	0.0:0.9199:0.0:0.0801	.	331	Q96J01	THOC3_HUMAN	D	331;146	ENSP00000265097:G331D;ENSP00000425039:G146D	ENSP00000265097:G331D	G	-	2	0	THOC3	175319642	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	7.743000	0.85020	1.159000	0.42565	-0.192000	0.12808	GGC		0.557	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253148.1			
TP53BP1	7158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43748161	43748161	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr15:43748161G>C	ENST00000263801.3	-	12	2882	c.2630C>G	c.(2629-2631)tCa>tGa	p.S877*	TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.S882*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.S882*|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.S882*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	877					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.S877*(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTCTGCATCTGAGCTTAGCTG	0.453								Other conserved DNA damage response genes																																									1	Substitution - Nonsense(1)	kidney(1)											109.0	109.0	109.0					15																	43748161		2201	4298	6499	SO:0001587	stop_gained	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2630C>G	15.37:g.43748161G>C	ENSP00000263801:p.Ser877*		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	40	8.105796	0.98657	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546;ENST00000414758	.	.	.	5.23	4.25	0.50352	.	1.005250	0.08011	N	0.990314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.3034	10.7224	0.46048	0.0:0.2474:0.7526:0.0	.	.	.	.	X	877;882;882;882;882;21	.	ENSP00000263801:S877X	S	-	2	0	TP53BP1	41535453	0.015000	0.18098	0.045000	0.18777	0.764000	0.43329	2.110000	0.41873	2.582000	0.87167	0.650000	0.86243	TCA		0.453	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179417031	179417031	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:179417031C>T	ENST00000591111.1	-	285	85897	c.85673G>A	c.(85672-85674)gGa>gAa	p.G28558E	TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21326E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27631E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G21259E|TTN_ENST00000589042.1_Missense_Mutation_p.G30199E|TTN_ENST00000460472.2_Missense_Mutation_p.G21134E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28558	Ig-like 132.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G21134E(1)|p.G21326E(1)|p.G27631E(1)|p.G21259E(1)|p.G27629E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATTTTCCTCCATGCTCCTT	0.403																																																	5	Substitution - Missense(5)	kidney(5)											100.0	96.0	98.0					2																	179417031		1930	4132	6062	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85673G>A	2.37:g.179417031C>T	ENSP00000465570:p.Gly28558Glu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.21	2.765132	0.49574	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64349	0.2590	N	0.10645	0.015	0.45704	D	0.998612	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;D;D	0.63793	0.918;0.918;0.918;0.918	T	0.71699	-0.4514	9	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	21134;21259;21326;28558	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	27631;21134;21326;21259;21131	ENSP00000343764:G27631E;ENSP00000434586:G21134E;ENSP00000340554:G21326E;ENSP00000352154:G21259E	ENSP00000340554:G21326E	G	-	2	0	TTN	179125277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.510000	0.53393	2.882000	0.98803	0.655000	0.94253	GGA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179587903	179587903	+	Silent	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:179587903G>A	ENST00000591111.1	-	73	21104	c.20880C>T	c.(20878-20880)aaC>aaT	p.N6960N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.N6033N|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.N7277N|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12547	Ig-like 51.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.N6033N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTGACTATGTTACATTTTT	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											124.0	113.0	117.0					2																	179587903		1839	4090	5929	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20880C>T	2.37:g.179587903G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179665198	179665198	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:179665198C>G	ENST00000591111.1	-	4	731	c.507G>C	c.(505-507)gaG>gaC	p.E169D	TTN_ENST00000342175.6_Missense_Mutation_p.E169D|TTN_ENST00000342992.6_Missense_Mutation_p.E169D|TTN_ENST00000359218.5_Missense_Mutation_p.E169D|TTN_ENST00000589042.1_Missense_Mutation_p.E169D|TTN_ENST00000460472.2_Missense_Mutation_p.E169D|TTN_ENST00000360870.5_Missense_Mutation_p.E169D			Q8WZ42	TITIN_HUMAN	titin	32788	Ig-like 2.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E169D(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCTGAGTCCTCAGGGTATG	0.483																																																	6	Substitution - Missense(6)	kidney(6)											155.0	156.0	155.0					2																	179665198		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.507G>C	2.37:g.179665198C>G	ENSP00000465570:p.Glu169Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	13.40	2.225600	0.39300	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	6.04	3.67	0.42095	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63177	0.2489	L	0.31752	0.955	0.27240	N	0.959179	P;P;P;P;P	0.49862	0.591;0.462;0.462;0.462;0.929	B;B;B;B;P	0.46629	0.312;0.312;0.312;0.312;0.522	T	0.55147	-0.8186	9	0.87932	D	0	.	9.22	0.37370	0.0:0.2119:0.0:0.7881	.	169;169;169;169;169	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	169	ENSP00000343764:E169D;ENSP00000434586:E169D;ENSP00000340554:E169D;ENSP00000352154:E169D;ENSP00000354117:E169D	ENSP00000340554:E169D	E	-	3	2	TTN	179373443	1.000000	0.71417	0.988000	0.46212	0.962000	0.63368	3.345000	0.52182	0.176000	0.19873	-0.360000	0.07572	GAG		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TXNRD2	10587	broad.mit.edu;hgsc.bcm.edu	37	22	19883099	19883099	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr22:19883099C>T	ENST00000400521.1	-	11	786	c.780G>A	c.(778-780)atG>atA	p.M260I	TXNRD2_ENST00000535882.1_Missense_Mutation_p.M259I|TXNRD2_ENST00000334363.9_Missense_Mutation_p.M260I|TXNRD2_ENST00000400519.1_Missense_Mutation_p.M259I|TXNRD2_ENST00000400518.1_Missense_Mutation_p.M230I|TXNRD2_ENST00000542719.1_Missense_Mutation_p.M230I|TXNRD2_ENST00000491939.1_5'UTR	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	260					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.M260I(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CCATGGAGGACATTTGCTGCA	0.627																																																	1	Substitution - Missense(1)	kidney(1)											41.0	46.0	44.0					22																	19883099		2087	4212	6299	SO:0001583	missense	10587			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.780G>A	22.37:g.19883099C>T	ENSP00000383365:p.Met260Ile		O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965597	0.74131	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	4.26	4.26	0.50523	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	N	0.22421	0.69	0.80722	D	1	D;D;D;D	0.61697	0.99;0.972;0.972;0.99	D;P;P;D	0.63381	0.914;0.788;0.788;0.914	T	0.54248	-0.8322	10	0.45353	T	0.12	-3.6985	15.2561	0.73585	0.0:1.0:0.0:0.0	.	260;260;228;259	Q9NNW7;E7EWK1;Q6M1B7;D3YTF9	TRXR2_HUMAN;.;.;.	I	230;260;260;237;164;259;259;230;260	ENSP00000383362:M230I;ENSP00000383365:M260I;ENSP00000383369:M237I;ENSP00000383363:M259I;ENSP00000439314:M259I;ENSP00000439570:M230I;ENSP00000334451:M260I	ENSP00000334451:M260I	M	-	3	0	TXNRD2	18263099	1.000000	0.71417	0.942000	0.38095	0.662000	0.39071	6.956000	0.76013	2.106000	0.64143	0.462000	0.41574	ATG		0.627	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3		NM_006440	
USP40	55230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234431845	234431845	+	Silent	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:234431845A>G	ENST00000427112.2	-	15	2204	c.2169T>C	c.(2167-2169)atT>atC	p.I723I	USP40_ENST00000450966.1_Silent_p.I735I|USP40_ENST00000251722.6_Silent_p.I723I			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	723					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.I735I(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCTGAATTAAAATTGAGCTTC	0.448																																																	2	Substitution - coding silent(2)	kidney(2)											138.0	131.0	133.0					2																	234431845		1880	4113	5993	SO:0001819	synonymous_variant	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2169T>C	2.37:g.234431845A>G			Q6NX38|Q70EL0	Silent	SNP	ENST00000427112.2	37	CCDS46547.1																																																																																				0.448	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1		XM_114294	
VARS2	57176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	30884693	30884694	+	Missense_Mutation	DNP	GT	GT	AC			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr6:30884693_30884694GT>AC	ENST00000321897.5	+	7	1342_1343	c.710_711GT>AC	c.(709-711)gGT>gAC	p.G237D	VARS2_ENST00000541562.1_Missense_Mutation_p.G267D|VARS2_ENST00000542001.1_Missense_Mutation_p.G97D|VARS2_ENST00000416670.2_Missense_Mutation_p.G237D			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	237					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.G237G(1)|p.G237D(1)|p.G237>?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CGAGCTCTGGGTGCCTCCCTGG	0.54																																																	3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	57176			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	Exception_encountered	6.37:g.30884693_30884694delinsAC	ENSP00000316092:p.Gly237Asp		A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation|Silent	SNP	ENST00000321897.5	37	CCDS34387.1																																																																																				0.540	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2		NM_020442	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188197	10188197	+	Splice_Site	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:10188197G>T	ENST00000256474.2	+	2	1180		c.e2-1		VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						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.?(10)		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)		TGTCCCGATAGGTCACCTTTG	0.537		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"""	10	Unknown(10)	kidney(10)	GRCh37	CS014769|CS984220	VHL	S							164.0	152.0	156.0					3																	10188197		2203	4300	6503	SO:0001630	splice_region_variant	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.341-1G>T	3.37:g.10188197G>T			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763530	0.31228	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3181	0.82935	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10163197	1.000000	0.71417	0.999000	0.59377	0.124000	0.20399	7.278000	0.78587	2.530000	0.85305	0.563000	0.77884	.		0.537	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	Intron
VPS13D	55187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12423192	12423192	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:12423192C>G	ENST00000358136.3	+	52	10467	c.10337C>G	c.(10336-10338)cCt>cGt	p.P3446R	VPS13D_ENST00000356315.4_Missense_Mutation_p.P3421R	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.P3446R(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTCCACTGGCCTCGGAATGAC	0.453																																																	1	Substitution - Missense(1)	kidney(1)											265.0	229.0	241.0					1																	12423192		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10337C>G	1.37:g.12423192C>G	ENSP00000350854:p.Pro3446Arg			Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.923209|4.923209	0.92319|0.92319	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.30981	.|1.51;1.51	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Vacuolar protein sorting-associated protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61286|0.61286	0.2335|0.2335	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.997;0.999	T|T	0.57717|0.57717	-0.7763|-0.7763	5|10	.|0.44086	.|T	.|0.13	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3421;3445	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	V|R	2268|3421;3446	.|ENSP00000348666:P3421R;ENSP00000350854:P3446R	.|ENSP00000348666:P3421R	L|P	+|+	1|2	0|0	VPS13D|VPS13D	12345779|12345779	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.914000|0.914000	0.54420|0.54420	7.456000|7.456000	0.80751|0.80751	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.453	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378	
WASH3P	374666	broad.mit.edu	37	15	102515298	102515298	+	RNA	SNP	C	C	T	rs530852091	byFrequency	TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr15:102515298C>T	ENST00000557932.1	+	0	1144				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.I373I(1)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTGGGGGCATCGGCAAGGCCA	0.652													c|||	4	0.000798722	0.0	0.0	5008	,	,		30507	0.002		0.002	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)																																										374666					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515298C>T				Silent	SNP	ENST00000557932.1	37																																																																																					0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1		NM_199163	
WHSC1	7468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	1920240	1920240	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr4:1920240G>C	ENST00000382895.3	+	7	1731	c.1300G>C	c.(1300-1302)Gga>Cga	p.G434R	WHSC1_ENST00000398261.1_Missense_Mutation_p.G434R|WHSC1_ENST00000508803.1_Missense_Mutation_p.G434R|WHSC1_ENST00000382892.2_Missense_Mutation_p.G434R|WHSC1_ENST00000382891.5_Missense_Mutation_p.G434R|WHSC1_ENST00000420906.2_Missense_Mutation_p.G434R|WHSC1_ENST00000503128.1_Missense_Mutation_p.G434R|WHSC1_ENST00000514045.1_Missense_Mutation_p.G434R	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	434					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.G434R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCCCAGAAGAGGAGTAGGGTC	0.552			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	2	Substitution - Missense(2)	kidney(2)											31.0	34.0	33.0					4																	1920240		2203	4300	6503	SO:0001583	missense	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1300G>C	4.37:g.1920240G>C	ENSP00000372351:p.Gly434Arg		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261228	0.80246	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000398261	D;T;D;D;T;D;T;T	0.95137	-3.62;1.16;-3.62;-3.62;1.16;-3.62;1.15;1.15	5.22	5.22	0.72569	High mobility group, superfamily (1);	0.000000	0.52532	D	0.000065	D	0.95424	0.8514	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.89917	1.0;0.989;1.0;1.0	D;P;D;D	0.97110	1.0;0.806;1.0;1.0	D	0.94909	0.8063	10	0.52906	T	0.07	.	12.4954	0.55925	0.0769:0.0:0.9231:0.0	.	434;434;434;434	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	R	434	ENSP00000423972:G434R;ENSP00000421681:G434R;ENSP00000372347:G434R;ENSP00000372348:G434R;ENSP00000399251:G434R;ENSP00000372351:G434R;ENSP00000425761:G434R;ENSP00000381311:G434R	ENSP00000308780:G434R	G	+	1	0	WHSC1	1890038	1.000000	0.71417	0.947000	0.38551	0.859000	0.49053	4.821000	0.62679	2.592000	0.87571	0.555000	0.69702	GGA		0.552	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2		NM_133330	
ZC3HC1	51530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129666109	129666110	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr7:129666109_129666110TC>AA	ENST00000358303.4	-	6	748_749	c.664_665GA>TT	c.(664-666)GAa>TTa	p.E222L	ZC3HC1_ENST00000311873.5_Missense_Mutation_p.E201L|RNA5SP245_ENST00000364239.1_RNA|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.E222L|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.E222L	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	222					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.E222*(1)|p.E222V(1)|p.E222>?(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AAGTTCATCTTCAAGCAAGTGT	0.411																																					Melanoma(115;540 1606 16325 28853 48167)												3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	51530			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.664_665delinsAA	7.37:g.129666109_129666110delinsAA	ENSP00000351052:p.Glu222Leu		A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000358303.4	37	CCDS34753.1																																																																																				0.411	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1		NM_016478	
ZFHX4	79776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	77768068	77768068	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr8:77768068C>T	ENST00000521891.2	+	10	9359	c.8911C>T	c.(8911-8913)Cgc>Tgc	p.R2971C	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2926C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2945C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2926C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2926					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R2955C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGCCCAAACGCGTAGTCCA	0.433										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	kidney(1)											62.0	58.0	60.0					8																	77768068		1944	4141	6085	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8911C>T	8.37:g.77768068C>T	ENSP00000430497:p.Arg2971Cys		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122163	0.56613	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.43416	U	0.000569	D	0.98611	0.9535	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	D	0.99478	1.0947	10	0.87932	D	0	.	18.8924	0.92410	0.0:1.0:0.0:0.0	.	2926;2926;2971	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	2971;2955;2926;2926;2945	ENSP00000430497:R2971C;ENSP00000399605:R2926C;ENSP00000050961:R2926C;ENSP00000430848:R2945C	ENSP00000050961:R2926C	R	+	1	0	ZFHX4	77930623	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.780000	0.68956	2.696000	0.92011	0.655000	0.94253	CGC		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721	
ZHX2	22882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	123963970	123963970	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr8:123963970C>G	ENST00000314393.4	+	3	1055	c.220C>G	c.(220-222)Ctc>Gtc	p.L74V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	74					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L74V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GTCCAAAAAACTCCAAGGTGG	0.478																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)												1	Substitution - Missense(1)	kidney(1)											74.0	70.0	71.0					8																	123963970		2203	4300	6503	SO:0001583	missense	22882			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.220C>G	8.37:g.123963970C>G	ENSP00000314709:p.Leu74Val			Missense_Mutation	SNP	ENST00000314393.4	37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	C	1.328	-0.597602	0.03771	.	.	ENSG00000178764	ENST00000314393	T	0.52295	0.67	5.56	5.56	0.83823	.	0.211942	0.41938	D	0.000795	T	0.26846	0.0657	L	0.28274	0.84	0.32971	D	0.522358	P	0.42827	0.791	B	0.32677	0.15	T	0.35201	-0.9798	10	0.02654	T	1	-19.0498	13.7817	0.63087	0.0:0.9267:0.0:0.0733	.	74	Q9Y6X8	ZHX2_HUMAN	V	74	ENSP00000314709:L74V	ENSP00000314709:L74V	L	+	1	0	ZHX2	124033151	0.694000	0.27738	0.998000	0.56505	0.961000	0.63080	4.326000	0.59241	2.637000	0.89404	0.455000	0.32223	CTC		0.478	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1		NM_014943	
ZNF124	7678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247322364	247322364	+	Silent	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:247322364G>A	ENST00000543802.2	-	3	251	c.162C>T	c.(160-162)aaC>aaT	p.N54N	ZNF124_ENST00000340684.6_Silent_p.N54N|ZNF124_ENST00000472531.1_Silent_p.N54N|ZNF124_ENST00000491356.1_Silent_p.N54N|ZNF124_ENST00000491848.1_5'UTR			Q15973	ZN124_HUMAN	zinc finger protein 124	54	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N54N(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CTTCCCCTTTGTTTCCTAAAA	0.368																																																	1	Substitution - coding silent(1)	kidney(1)											66.0	67.0	67.0					1																	247322364		2202	4299	6501	SO:0001819	synonymous_variant	7678			S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.162C>T	1.37:g.247322364G>A			B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Silent	SNP	ENST00000543802.2	37																																																																																					0.368	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1		NM_003431	
ZNF516	9658	broad.mit.edu	37	18	74154244	74154244	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr18:74154244G>T	ENST00000443185.2	-	3	1084	c.767C>A	c.(766-768)gCc>gAc	p.A256D	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A256D(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTGGCTGAAGGCCTGGCCACA	0.687																																																	2	Substitution - Missense(2)	kidney(2)											17.0	20.0	19.0					18																	74154244		2007	4189	6196	SO:0001583	missense	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.767C>A	18.37:g.74154244G>T	ENSP00000394757:p.Ala256Asp			Missense_Mutation	SNP	ENST00000443185.2	37		.	.	.	.	.	.	.	.	.	.	G	18.16	3.562224	0.65538	.	.	ENSG00000101493	ENST00000443185	T	0.52295	0.67	4.52	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.074994	0.53938	D	0.000047	T	0.65637	0.2710	.	.	.	0.37315	D	0.909299	D	0.76494	0.999	D	0.73708	0.981	T	0.72924	-0.4144	9	0.87932	D	0	-8.9982	11.3066	0.49338	0.084:0.0:0.916:0.0	.	256	Q92618	ZN516_HUMAN	D	256	ENSP00000394757:A256D	ENSP00000394757:A256D	A	-	2	0	ZNF516	72283232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.515000	0.67049	2.508000	0.84585	0.650000	0.86243	GCC		0.687	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding			NM_014643	
