#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCC4	10257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95859006	95859006	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr13:95859006G>C	ENST00000376887.4	-	8	1055	c.941C>G	c.(940-942)tCc>tGc	p.S314C	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.S314C|ABCC4_ENST00000431522.1_Missense_Mutation_p.S314C|ABCC4_ENST00000536256.1_Missense_Mutation_p.S239C	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	314	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.S314C(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TCTGAGGCAGGAACTTCTCAG	0.448																																																	2	Substitution - Missense(2)	kidney(2)											151.0	151.0	151.0					13																	95859006		2203	4300	6503	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.941C>G	13.37:g.95859006G>C	ENSP00000366084:p.Ser314Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486689	0.84854	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.59	5.59	0.84812	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96160	0.8748	M	0.93898	3.47	0.80722	D	1	P;D;D;D;D	0.89917	0.933;1.0;0.999;1.0;1.0	P;D;D;D;D	0.80764	0.82;0.994;0.959;0.992;0.987	D	0.96868	0.9637	10	0.87932	D	0	.	19.1869	0.93647	0.0:0.0:1.0:0.0	.	239;314;314;314;314	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	C	314;314;239;314	ENSP00000388657:S314C;ENSP00000366084:S314C;ENSP00000442024:S239C;ENSP00000398562:S314C	ENSP00000366084:S314C	S	-	2	0	ABCC4	94657007	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.109000	0.94291	2.608000	0.88229	0.655000	0.94253	TCC		0.448	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2		NM_005845	
ABL1	25	broad.mit.edu;ucsc.edu	37	9	133729596	133729596	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr9:133729596T>G	ENST00000318560.5	+	2	606	c.225T>G	c.(223-225)agT>agG	p.S75R		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	75	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.S75R(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TTGTGGCCAGTGGAGATAACA	0.478			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	1	Substitution - Missense(1)	kidney(1)											110.0	109.0	109.0					9																	133729596		2203	4300	6503	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.225T>G	9.37:g.133729596T>G	ENSP00000323315:p.Ser75Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145417	0.57044	.	.	ENSG00000097007	ENST00000372348;ENST00000438426;ENST00000318560	T;T	0.38560	1.13;1.13	5.37	3.04	0.35103	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	N	0.03881	-0.34	0.58432	D	0.999999	P;P	0.42993	0.797;0.797	P;P	0.53185	0.72;0.72	T	0.11817	-1.0572	10	0.37606	T	0.19	.	8.8201	0.35020	0.0:0.1516:0.0:0.8484	.	75;112	P00519;Q59FK4	ABL1_HUMAN;.	R	94;121;75	ENSP00000361423:S94R;ENSP00000323315:S75R	ENSP00000323315:S75R	S	+	3	2	ABL1	132719417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.084000	0.30828	0.388000	0.25054	0.514000	0.50259	AGT		0.478	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1		NM_007313	
ALKBH6	84964	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36504275	36504275	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr19:36504275G>T	ENST00000252984.7	-	3	177	c.25C>A	c.(25-27)Cca>Aca	p.P9T	ALKBH6_ENST00000485128.1_Missense_Mutation_p.P9T|ALKBH6_ENST00000378875.3_Missense_Mutation_p.P37T|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000495116.2_Intron|AC002116.7_ENST00000586962.1_RNA|ALKBH6_ENST00000486389.1_Missense_Mutation_p.P9T			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	9						cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.P37T(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCAGGGCTGGGACTCTGGCG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											166.0	136.0	146.0					19																	36504275		2203	4300	6503	SO:0001583	missense	84964			BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"""Alkylation repair homologs"""	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.25C>A	19.37:g.36504275G>T	ENSP00000252984:p.Pro9Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A5LGM8|A6NLP1|A8MU96	Missense_Mutation	SNP	ENST00000252984.7	37		.	.	.	.	.	.	.	.	.	.	G	21.5	4.154932	0.78114	.	.	ENSG00000239382	ENST00000378875;ENST00000485128;ENST00000252984;ENST00000433672	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	T	0.51210	0.1661	L	0.29908	0.895	0.28877	N	0.894604	B;B;D;D	0.89917	0.058;0.244;0.974;1.0	B;B;P;D	0.79108	0.015;0.061;0.738;0.992	T	0.43032	-0.9416	8	0.44086	T	0.13	.	12.8154	0.57663	0.0:0.0:1.0:0.0	.	9;30;37;9	B0AZV3;B4E3P3;Q3KRA9-2;Q3KRA9	.;.;.;ALKB6_HUMAN	T	37;9;9;9	.	ENSP00000252984:P9T	P	-	1	0	ALKBH6	41196115	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.116000	0.50399	2.355000	0.79922	0.585000	0.79938	CCA		0.587	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4		NM_032878	
ALMS1	7840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	73651859	73651859	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr2:73651859T>A	ENST00000264448.6	+	5	1177	c.1066T>A	c.(1066-1068)Tgg>Agg	p.W356R	ALMS1_ENST00000409009.1_Missense_Mutation_p.W314R|ALMS1_ENST00000377715.1_Missense_Mutation_p.W356R	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	356					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.W356R(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGATACACAGTGGCCTGAAAA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											88.0	80.0	83.0					2																	73651859		1868	4123	5991	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1066T>A	2.37:g.73651859T>A	ENSP00000264448:p.Trp356Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	T	4.413	0.076362	0.08485	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14022	3.44;3.44;2.54	4.38	1.66	0.24008	.	1.176730	0.06545	N	0.743982	T	0.05686	0.0149	N	0.08118	0	0.22719	N	0.998817	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42207	-0.9465	10	0.09590	T	0.72	.	2.3693	0.04326	0.1484:0.4503:0.28:0.1213	.	314;356	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	R	314;356;356	ENSP00000386627:W314R;ENSP00000264448:W356R;ENSP00000366944:W356R	ENSP00000264448:W356R	W	+	1	0	ALMS1	73505367	1.000000	0.71417	0.975000	0.42487	0.672000	0.39443	0.717000	0.25851	0.381000	0.24851	-0.251000	0.11542	TGG		0.343	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120	
ANKHD1	54882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139889648	139889648	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr5:139889648T>G	ENST00000360839.2	+	22	4140	c.3986T>G	c.(3985-3987)cTt>cGt	p.L1329R	ANKHD1_ENST00000297183.6_Missense_Mutation_p.L1329R|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L1329R	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1329						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L1329R(2)|p.L540R(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATACGCCACTTTGGCTGGCA	0.443																																																	3	Substitution - Missense(3)	kidney(3)											149.0	139.0	142.0					5																	139889648		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3986T>G	5.37:g.139889648T>G	ENSP00000354085:p.Leu1329Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.7|25.7	4.663578|4.663578	0.88251|0.88251	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000246149|ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	.|T;T;T;T;T	.|0.79352	.|-1.26;-1.26;-1.26;-1.26;-1.26	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Ankyrin repeat-containing domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92893|0.92893	0.7739|0.7739	H|H	0.98646|0.98646	4.29|4.29	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.999;1.0;0.999;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.992;0.999;0.995;0.999;0.999	D|D	0.95562|0.95562	0.8630|0.8630	5|10	.|0.87932	.|D	.|0	.|.	15.9628|15.9628	0.79945|0.79945	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|540;1329;1348;1329;1329	.|E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.|.;.;.;.;ANKH1_HUMAN	V|R	555|1329;1362;1329;1329;863;540;1348;482;1329	.|ENSP00000354085:L1329R;ENSP00000297183:L1329R;ENSP00000394489:L1348R;ENSP00000405602:L482R;ENSP00000432016:L1329R	.|ENSP00000432016:L1329R	F|L	+|+	1|2	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139869832|139869832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.040000|8.040000	0.89188|0.89188	2.233000|2.233000	0.73108|0.73108	0.482000|0.482000	0.46254|0.46254	TTT|CTT		0.443	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747	
ANO3	63982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	26558968	26558968	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr11:26558968T>C	ENST00000256737.3	+	10	1844	c.992T>C	c.(991-993)aTa>aCa	p.I331T	ANO3_ENST00000525139.1_Missense_Mutation_p.I315T|ANO3_ENST00000531568.1_Missense_Mutation_p.I185T|ANO3_ENST00000537978.1_Missense_Mutation_p.I315T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	331					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.I331T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CGTAAACTTATAAACAATGGC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											175.0	167.0	170.0					11																	26558968		2203	4300	6503	SO:0001583	missense	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.992T>C	11.37:g.26558968T>C	ENSP00000256737:p.Ile331Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.291398	0.59976	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	4.93	4.93	0.64822	.	0.059491	0.64402	D	0.000003	T	0.67720	0.2923	M	0.75085	2.285	0.42261	D	0.99201	P;P	0.45428	0.764;0.858	B;B	0.40602	0.334;0.334	T	0.75563	-0.3274	10	0.87932	D	0	.	14.8685	0.70437	0.0:0.0:0.0:1.0	.	233;331	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	T	315;315;331;233;185	ENSP00000440737:I315T;ENSP00000432576:I315T;ENSP00000256737:I331T;ENSP00000432394:I185T	ENSP00000256737:I331T	I	+	2	0	ANO3	26515544	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.289000	0.78701	1.979000	0.57680	0.533000	0.62120	ATA		0.373	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1		NM_031418	
ANPEP	290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90348359	90348359	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr15:90348359T>C	ENST00000300060.6	-	4	1160	c.847A>G	c.(847-849)Att>Gtt	p.I283V	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	283	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.I283V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCACTGACAATGAAGGCCAGC	0.582																																					NSCLC(30;827 977 2459 19669 26125)												1	Substitution - Missense(1)	kidney(1)											307.0	254.0	272.0					15																	90348359		2200	4299	6499	SO:0001583	missense	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.847A>G	15.37:g.90348359T>C	ENSP00000300060:p.Ile283Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	T	4.914	0.169827	0.09339	.	.	ENSG00000166825	ENST00000300060	T	0.03663	3.85	5.08	5.08	0.68730	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.047756	0.85682	D	0.000000	T	0.03695	0.0105	L	0.31476	0.935	0.38144	D	0.938532	B	0.24576	0.106	B	0.27500	0.08	T	0.49133	-0.8971	10	0.14252	T	0.57	.	12.8031	0.57596	0.0:0.0:0.0:1.0	.	283	P15144	AMPN_HUMAN	V	283	ENSP00000300060:I283V	ENSP00000300060:I283V	I	-	1	0	ANPEP	88149363	1.000000	0.71417	0.969000	0.41365	0.043000	0.13939	3.000000	0.49481	1.919000	0.55581	0.379000	0.24179	ATT		0.582	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			
ATP5SL	55101	hgsc.bcm.edu;ucsc.edu	37	19	41945825	41945825	+	5'Flank	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr19:41945825G>T	ENST00000221943.9	-	0	0				ATP5SL_ENST00000595425.1_5'Flank|ATP5SL_ENST00000597457.1_5'Flank|ATP5SL_ENST00000589970.1_5'Flank|ATP5SL_ENST00000301183.11_5'Flank|ATP5SL_ENST00000417807.3_5'Flank|ATP5SL_ENST00000590641.2_5'Flank|ATP5SL_ENST00000438807.3_5'Flank|ATP5SL_ENST00000592922.2_5'UTR	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like							mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TTTCGTAACCGGAAGGGGCCG	0.577																																																	0													56.0	50.0	52.0					19																	41945825		2203	4300	6503	SO:0001631	upstream_gene_variant	55101			AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81			19.37:g.41945825G>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	RNA	SNP	ENST00000221943.9	37	CCDS33032.1																																																																																				0.577	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1		NM_018035	
BDP1	55814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	70856036	70856036	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr5:70856036A>C	ENST00000358731.4	+	37	7731	c.7468A>C	c.(7468-7470)Aca>Cca	p.T2490P	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2490					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T2490P(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGATAGCAGAACATCGTCTTC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											94.0	86.0	88.0					5																	70856036		1918	4135	6053	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7468A>C	5.37:g.70856036A>C	ENSP00000351575:p.Thr2490Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	8.758	0.922955	0.18056	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.04970	3.52	5.42	-1.39	0.08997	.	0.891913	0.09552	N	0.786763	T	0.05593	0.0147	L	0.42245	1.32	0.09310	N	0.999997	B	0.17667	0.023	B	0.16289	0.015	T	0.40608	-0.9554	10	0.37606	T	0.19	.	5.2995	0.15770	0.3319:0.3818:0.2863:0.0	.	2490	A6H8Y1	BDP1_HUMAN	P	2490;2038	ENSP00000351575:T2490P	ENSP00000351575:T2490P	T	+	1	0	BDP1	70891792	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.029000	0.03585	-0.186000	0.10533	0.477000	0.44152	ACA		0.373	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2		NM_018429	
C3	718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6714022	6714022	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr19:6714022C>A	ENST00000245907.6	-	7	846	c.754G>T	c.(754-756)Gag>Tag	p.E252*		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	252					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.E252*(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ATGGTGACCTCCAGGCCCTTC	0.607																																																	1	Substitution - Nonsense(1)	kidney(1)											69.0	76.0	74.0					19																	6714022		2203	4300	6503	SO:0001587	stop_gained	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.754G>T	19.37:g.6714022C>A	ENSP00000245907:p.Glu252*	Somatic		WXS	Illumina HiSeq	Phase_I	A7E236	Nonsense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	c	35	5.589998	0.96590	.	.	ENSG00000125730	ENST00000245907	.	.	.	4.98	-2.18	0.07037	.	2.063760	0.01705	N	0.027387	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	0.9929	0.01461	0.1715:0.2648:0.3363:0.2274	.	.	.	.	X	252	.	ENSP00000245907:E252X	E	-	1	0	C3	6665022	0.000000	0.05858	0.827000	0.32855	0.927000	0.56198	-1.027000	0.03592	0.081000	0.16988	0.298000	0.19748	GAG		0.607	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2		NM_000064	
C19orf45	374877	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7573131	7573131	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr19:7573131C>T	ENST00000361664.2	+	9	1474	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	CTD-2207O23.12_ENST00000599312.1_Intron	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	445								p.R431C(1)		endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GGGTGGACTGCGCTTCTTCTC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											55.0	54.0	54.0					19																	7573131		2203	4300	6503	SO:0001583	missense	374877			BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.1333C>T	19.37:g.7573131C>T	ENSP00000355241:p.Arg445Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N115	Missense_Mutation	SNP	ENST00000361664.2	37	CCDS12179.2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493710	0.44352	.	.	ENSG00000198723	ENST00000361664	T	0.17054	2.3	4.05	2.92	0.33932	.	0.572148	0.16805	N	0.198825	T	0.33990	0.0882	L	0.56769	1.78	0.35028	D	0.758546	D	0.89917	1.0	D	0.87578	0.998	T	0.42899	-0.9424	10	0.87932	D	0	-34.1009	9.1316	0.36848	0.0:0.7759:0.2241:0.0	.	445	Q8NA69	CS045_HUMAN	C	445	ENSP00000355241:R445C	ENSP00000355241:R445C	R	+	1	0	C19orf45	7479131	0.797000	0.28877	0.982000	0.44146	0.343000	0.28985	1.706000	0.37878	2.268000	0.75426	0.462000	0.41574	CGC		0.602	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1		NM_198534	
CA6	765	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	9019022	9019022	+	Silent	SNP	T	T	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr1:9019022T>C	ENST00000377443.2	+	4	466	c.462T>C	c.(460-462)gaT>gaC	p.D154D	CA6_ENST00000377436.3_Silent_p.D154D|CA6_ENST00000377442.2_Silent_p.D94D|CA6_ENST00000476083.1_3'UTR	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	154					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.D154D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TAGCCCAAGATGCGCCGGATG	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											189.0	194.0	192.0					1																	9019022		2203	4300	6503	SO:0001819	synonymous_variant	765			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.462T>C	1.37:g.9019022T>C		Somatic		WXS	Illumina HiSeq	Phase_I	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP	ENST00000377443.2	37	CCDS30578.1																																																																																				0.428	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			
CACNA1G	8913	broad.mit.edu;hgsc.bcm.edu	37	17	48647166	48647166	+	Splice_Site	SNP	T	T	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr17:48647166T>A	ENST00000359106.5	+	4	586		c.e4+2		CACNA1G_ENST00000502264.1_Splice_Site|CACNA1G_ENST00000360761.4_Splice_Site|CACNA1G_ENST00000507896.1_Splice_Site|CACNA1G_ENST00000515411.1_Splice_Site|CACNA1G_ENST00000507510.2_Splice_Site|CACNA1G_ENST00000510366.1_Splice_Site|CACNA1G_ENST00000442258.2_Splice_Site|CACNA1G_ENST00000514717.1_Splice_Site|CACNA1G_ENST00000429973.2_Splice_Site|CACNA1G_ENST00000352832.5_Splice_Site|CACNA1G_ENST00000514181.1_Splice_Site|CACNA1G_ENST00000503485.1_Splice_Site|CACNA1G_ENST00000513964.1_Splice_Site|CACNA1G_ENST00000354983.4_Splice_Site|CACNA1G_ENST00000510115.1_Splice_Site|CACNA1G_ENST00000515765.1_Splice_Site|CACNA1G_ENST00000515165.1_Splice_Site|CACNA1G_ENST00000358244.5_Splice_Site|CACNA1G_ENST00000416767.4_Splice_Site|CACNA1G_ENST00000514079.1_Splice_Site|CACNA1G_ENST00000507609.1_Splice_Site|CACNA1G_ENST00000513689.2_Splice_Site|CACNA1G_ENST00000505165.1_Splice_Site|CACNA1G_ENST00000512389.1_Splice_Site|CACNA1G_ENST00000507336.1_Splice_Site	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.?(4)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGTGCCCAGTGAGTGACCCC	0.607																																																	4	Unknown(4)	kidney(4)											20.0	25.0	23.0					17																	48647166		1776	3589	5365	SO:0001630	splice_region_variant	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.586+2T>A	17.37:g.48647166T>A		Somatic		WXS	Illumina HiSeq	Phase_I	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Splice_Site	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.456982	0.84317	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4129	0.74941	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1G	46002165	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.002000	0.88514	2.052000	0.61016	0.334000	0.21626	.		0.607	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896	Intron
COL27A1	85301	broad.mit.edu;hgsc.bcm.edu	37	9	116931616	116931616	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr9:116931616C>T	ENST00000356083.3	+	3	2172	c.1781C>T	c.(1780-1782)cCg>cTg	p.P594L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	594	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P594L(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GTATTGGCCCCGGCGCAATTC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											56.0	67.0	63.0					9																	116931616		2203	4300	6503	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1781C>T	9.37:g.116931616C>T	ENSP00000348385:p.Pro594Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	8.783	0.928730	0.18131	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.92249	-2.67;-3.0	5.11	5.11	0.69529	.	.	.	.	.	D	0.93232	0.7844	L	0.32530	0.975	0.43448	D	0.995634	D;D	0.89917	1.0;1.0	D;D	0.77557	0.949;0.99	D	0.93780	0.7083	9	0.72032	D	0.01	.	14.3891	0.66965	0.0:1.0:0.0:0.0	.	594;541	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	L	594;594;541;541	ENSP00000348385:P594L;ENSP00000391328:P541L	ENSP00000348385:P594L	P	+	2	0	COL27A1	115971437	0.275000	0.24201	0.944000	0.38274	0.094000	0.18550	0.867000	0.27968	2.537000	0.85549	0.563000	0.77884	CCG		0.652	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1		NM_032888	
CUBN	8029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	16957110	16957110	+	Silent	SNP	A	A	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr10:16957110A>G	ENST00000377833.4	-	47	7337	c.7272T>C	c.(7270-7272)aaT>aaC	p.N2424N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2424	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.N2424N(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACAGCAGTATTGCTAGAAG	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											119.0	103.0	108.0					10																	16957110		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7272T>C	10.37:g.16957110A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081	
CYP2A13	1553	broad.mit.edu;hgsc.bcm.edu	37	19	41601828	41601828	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr19:41601828G>T	ENST00000330436.3	+	9	1467	c.1467G>T	c.(1465-1467)atG>atT	p.M489I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	489					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.M489I(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	ACTACACCATGAGCTTCCTGC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											118.0	107.0	111.0					19																	41601828		2203	4300	6503	SO:0001583	missense	1553			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1467G>T	19.37:g.41601828G>T	ENSP00000332679:p.Met489Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396290	0.25205	.	.	ENSG00000197838	ENST00000330436	T	0.01159	5.25	3.97	0.383	0.16239	.	0.459913	0.22891	N	0.054390	T	0.00666	0.0022	N	0.03891	-0.335	0.09310	N	1	B	0.14012	0.009	B	0.17979	0.02	T	0.50162	-0.8860	10	0.28530	T	0.3	.	9.7669	0.40565	0.0:0.2724:0.589:0.1386	.	489	Q16696	CP2AD_HUMAN	I	489	ENSP00000332679:M489I	ENSP00000332679:M489I	M	+	3	0	CYP2A13	46293668	0.320000	0.24616	0.996000	0.52242	0.911000	0.54048	-0.231000	0.09069	0.887000	0.36136	0.473000	0.43528	ATG		0.652	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1		NM_000766	
DEFA4	1669	broad.mit.edu;ucsc.edu	37	8	6793661	6793661	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr8:6793661A>G	ENST00000297435.2	-	3	299	c.175T>C	c.(175-177)Tca>Cca	p.S59P		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	59					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)		p.S59P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCCCTTGTTGAGCCTGGGAAC	0.512																																																	1	Substitution - Missense(1)	kidney(1)											80.0	67.0	71.0					8																	6793661		2203	4300	6503	SO:0001583	missense	1669			X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"""Defensins, alpha"""	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.175T>C	8.37:g.6793661A>G	ENSP00000297435:p.Ser59Pro	Somatic		WXS	Illumina GAIIx	Phase_I	Q6EZF8	Missense_Mutation	SNP	ENST00000297435.2	37	CCDS5961.1	.	.	.	.	.	.	.	.	.	.	.	10.74	1.434308	0.25813	.	.	ENSG00000164821	ENST00000297435	T	0.24723	1.84	1.68	-1.76	0.08006	.	.	.	.	.	T	0.18087	0.0434	.	.	.	0.09310	N	1	P	0.47106	0.89	B	0.42916	0.402	T	0.12708	-1.0537	8	0.62326	D	0.03	.	2.8388	0.05523	0.3023:0.3132:0.3845:0.0	.	59	P12838	DEF4_HUMAN	P	59	ENSP00000297435:S59P	ENSP00000297435:S59P	S	-	1	0	DEFA4	6781071	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	-0.031000	0.12287	-0.422000	0.07405	-0.376000	0.06991	TCA		0.512	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1		NM_001925	
EPPK1	83481	hgsc.bcm.edu	37	8	144940462	144940462	+	Silent	SNP	G	G	A	rs56146920		TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr8:144940462G>A	ENST00000525985.1	-	2	7031	c.6960C>T	c.(6958-6960)tcC>tcT	p.S2320S				P58107	EPIPL_HUMAN	epiplakin 1	2320						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGGAAGAGGGAGATCTGCT	0.701																																																	0								G		13,4351		0,13,2169	199.0	190.0	193.0		6960	-0.8	1.0	8	dbSNP_129	193	1,8519		0,1,4259	no	coding-synonymous	EPPK1	NM_031308.1		0,14,6428	AA,AG,GG		0.0117,0.2979,0.1087		2320/2420	144940462	14,12870	2182	4260	6442	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6960C>T	8.37:g.144940462G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																					0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308	
EPPK1	83481	hgsc.bcm.edu	37	8	144940474	144940474	+	Silent	SNP	C	C	T	rs56015972		TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr8:144940474C>T	ENST00000525985.1	-	2	7019	c.6948G>A	c.(6946-6948)ggG>ggA	p.G2316G				P58107	EPIPL_HUMAN	epiplakin 1	2316						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGATCTGCTGCCCGGTGTAGG	0.706																																																	0								C		17,4343		0,17,2163	198.0	188.0	192.0		6948	-1.0	1.0	8	dbSNP_129	192	4,8524		0,4,4260	no	coding-synonymous	EPPK1	NM_031308.1		0,21,6423	TT,TC,CC		0.0469,0.3899,0.1629		2316/2420	144940474	21,12867	2180	4264	6444	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6948G>A	8.37:g.144940474C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																					0.706	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308	
EPPK1	83481	hgsc.bcm.edu	37	8	144940540	144940540	+	Silent	SNP	G	G	A	rs56034452		TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr8:144940540G>A	ENST00000525985.1	-	2	6953	c.6882C>T	c.(6880-6882)ggC>ggT	p.G2294G				P58107	EPIPL_HUMAN	epiplakin 1	2294						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGGATCTCGCCGCCCACCA	0.706																																																	0													90.0	89.0	90.0					8																	144940540		2176	4252	6428	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6882C>T	8.37:g.144940540G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																					0.706	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308	
FAM105A	54491	hgsc.bcm.edu;ucsc.edu	37	5	14601213	14601213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr5:14601213delT	ENST00000274217.3	+	2	324	c.204delT	c.(202-204)tatfs	p.Y68fs		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	68										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TACATTTATATTCAGGGCACA	0.393																																																	0													177.0	168.0	171.0					5																	14601213		2203	4300	6503	SO:0001589	frameshift_variant	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.204delT	5.37:g.14601213delT	ENSP00000274217:p.Tyr68fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q53H50|Q9H037	Frame_Shift_Del	DEL	ENST00000274217.3	37	CCDS3884.1																																																																																				0.393	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1		NM_019018	
FAM186A	121006	broad.mit.edu;ucsc.edu	37	12	50748623	50748623	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr12:50748623A>C	ENST00000327337.5	-	4	1991	c.1992T>G	c.(1990-1992)agT>agG	p.S664R	FAM186A_ENST00000543111.1_Missense_Mutation_p.S664R	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	664								p.S664R(1)									TACTCTGTTCACTTTTGCCAT	0.383																																					NSCLC(138;1796 1887 12511 19463 37884)												1	Substitution - Missense(1)	kidney(1)											42.0	33.0	36.0					12																	50748623		692	1591	2283	SO:0001583	missense	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.1992T>G	12.37:g.50748623A>C	ENSP00000329995:p.Ser664Arg	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000327337.5	37	CCDS44878.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.162368	0.38217	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.13901	2.55;2.55	4.72	1.05	0.20165	.	.	.	.	.	T	0.08088	0.0202	N	0.24115	0.695	0.80722	D	1	B;B	0.19817	0.039;0.039	B;B	0.20184	0.028;0.028	T	0.20505	-1.0273	9	0.59425	D	0.04	.	3.955	0.09385	0.6739:0.0:0.1723:0.1538	.	664;664	F5GYN0;A6NE01	.;F186A_HUMAN	R	664	ENSP00000441337:S664R;ENSP00000329995:S664R	ENSP00000329995:S664R	S	-	3	2	FAM186A	49034890	0.465000	0.25815	0.830000	0.32933	0.040000	0.13550	0.541000	0.23207	0.090000	0.17273	0.533000	0.62120	AGT		0.383	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1		XM_001718353	
FASN	2194	broad.mit.edu;hgsc.bcm.edu	37	17	80041659	80041659	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr17:80041659G>A	ENST00000306749.2	-	30	5425	c.5207C>T	c.(5206-5208)aCg>aTg	p.T1736M	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1736	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T1736M(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTTCCCGCCCGTGTGCCACAG	0.682																																					Colon(59;314 1043 11189 28578 32273)												1	Substitution - Missense(1)	kidney(1)											44.0	38.0	40.0					17																	80041659		2190	4297	6487	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5207C>T	17.37:g.80041659G>A	ENSP00000304592:p.Thr1736Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851490	0.71719	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.09073	3.02	4.51	3.48	0.39840	Alcohol dehydrogenase, C-terminal (1);Polyketide synthase, enoylreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	H	0.98646	4.29	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.66976	-0.5787	10	0.87932	D	0	-16.2995	13.7217	0.62732	0.0:0.0:0.8452:0.1548	.	1736	P49327	FAS_HUMAN	M	1736;701	ENSP00000304592:T1736M	ENSP00000304592:T1736M	T	-	2	0	FASN	77634948	1.000000	0.71417	0.896000	0.35187	0.720000	0.41350	9.551000	0.98112	2.039000	0.60335	0.511000	0.50034	ACG		0.682	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1		NM_004104	
FASTKD1	79675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170411720	170411720	+	Silent	SNP	T	T	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr2:170411720T>C	ENST00000453153.2	-	7	1474	c.1128A>G	c.(1126-1128)ttA>ttG	p.L376L	FASTKD1_ENST00000453929.2_Silent_p.L376L	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	376					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.L376L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TCAACAACTCTAATGGTTTAT	0.299																																																	1	Substitution - coding silent(1)	kidney(1)											83.0	87.0	86.0					2																	170411720		2200	4297	6497	SO:0001819	synonymous_variant	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1128A>G	2.37:g.170411720T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	CCDS33318.1																																																																																				0.299	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2		NM_024622	
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127645724	127645724	+	Silent	SNP	G	G	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr5:127645724G>A	ENST00000508053.1	-	46	6125	c.5151C>T	c.(5149-5151)tgC>tgT	p.C1717C	FBN2_ENST00000262464.4_Silent_p.C1717C			P35556	FBN2_HUMAN	fibrillin 2	1717	EGF-like 28; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1717C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTGGGCAAATGCAGGTGTAAT	0.453																																																	2	Substitution - coding silent(2)	kidney(2)											103.0	94.0	97.0					5																	127645724		2203	4300	6503	SO:0001819	synonymous_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5151C>T	5.37:g.127645724G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																				0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999	
FCN3	8547	hgsc.bcm.edu;ucsc.edu	37	1	27695848	27695852	+	Frame_Shift_Del	DEL	CGGTA	CGGTA	-	rs141468956|rs143244488	byFrequency	TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	CGGTA	CGGTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr1:27695848_27695852delCGGTA	ENST00000270879.4	-	8	780_784	c.775_779delTACCG	c.(775-780)taccgafs	p.YR259fs	MAP3K6_ENST00000374040.3_5'Flank|FCN3_ENST00000354982.2_Frame_Shift_Del_p.YR248fs|MAP3K6_ENST00000493901.1_5'Flank|MAP3K6_ENST00000357582.2_5'Flank	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	259	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.R260Q(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GAGATTTGATCGGTAACAGGATGCA	0.571																																																	1	Substitution - Missense(1)	endometrium(1)																																								SO:0001589	frameshift_variant	8547			D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.775_779delTACCG	1.37:g.27695848_27695852delCGGTA	ENSP00000270879:p.Tyr259fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IBJ5|Q8WW86	Frame_Shift_Del	DEL	ENST00000270879.4	37	CCDS300.1																																																																																				0.571	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			
GAB4	128954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	17449242	17449242	+	Silent	SNP	T	T	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr22:17449242T>A	ENST00000400588.1	-	5	1076	c.969A>T	c.(967-969)ggA>ggT	p.G323G	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	323								p.G323G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGGCATTCCCTCCACCATGCT	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											113.0	116.0	115.0					22																	17449242		2203	4300	6503	SO:0001819	synonymous_variant	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.969A>T	22.37:g.17449242T>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000400588.1	37	CCDS42976.1																																																																																				0.582	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1		XM_372882	
GSTA4	2941	hgsc.bcm.edu;ucsc.edu	37	6	52850359	52850361	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr6:52850359_52850361delTTG	ENST00000370959.1	-	4	277_279	c.160_162delCAA	c.(160-162)caadel	p.Q54del	GSTA4_ENST00000370960.1_Intron|GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000541324.1_5'UTR			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	54	GST N-terminal.|Glutathione binding.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CCATGGGCACTTGTTGGAACAGC	0.463																																																	0																																										SO:0001651	inframe_deletion	2941			AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4629	protein-coding gene	gene with protein product		605450	"""glutathione S-transferase A4"""			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.160_162delCAA	6.37:g.52850362_52850364delTTG	ENSP00000359998:p.Gln54del	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	In_Frame_Del	DEL	ENST00000370959.1	37	CCDS4948.1																																																																																				0.463	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1		NM_001512	
HRC	3270	hgsc.bcm.edu	37	19	49657754	49657754	+	Silent	SNP	G	G	A	rs567490515	byFrequency	TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr19:49657754G>A	ENST00000252825.4	-	1	927	c.741C>T	c.(739-741)gaC>gaT	p.D247D	HRC_ENST00000595625.1_Silent_p.D247D	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	247	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Asp-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		catcatcatcgtcatcttctt	0.507													G|||	238	0.047524	0.053	0.0476	5008	,	,		25432	0.0169		0.0417	False		,,,				2504	0.0777				Melanoma(37;75 1097 24567 25669 30645)												0													127.0	92.0	104.0					19																	49657754		2203	4300	6503	SO:0001819	synonymous_variant	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.741C>T	19.37:g.49657754G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																				0.507	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1		NM_002152	
IL21R	50615	broad.mit.edu;ucsc.edu	37	16	27455987	27455987	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr16:27455987A>G	ENST00000337929.3	+	6	1105	c.632A>G	c.(631-633)cAg>cGg	p.Q211R	IL21R_ENST00000564089.1_Missense_Mutation_p.Q211R|IL21R_ENST00000395754.4_Missense_Mutation_p.Q211R|IL21R_ENST00000395755.1_Missense_Mutation_p.Q211R|IL21R_ENST00000564583.1_3'UTR	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	211	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.Q211R(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCCTCCTACCAGGGGACCTGG	0.582			T	BCL6	NHL																																			Dom	yes		16	16p11	50615	interleukin 21 receptor		L	1	Substitution - Missense(1)	kidney(1)											78.0	75.0	76.0					16																	27455987		2197	4300	6497	SO:0001583	missense	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.632A>G	16.37:g.27455987A>G	ENSP00000338010:p.Gln211Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	A	3.168	-0.170738	0.06421	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.67865	-0.29;-0.29;-0.29	4.3	-4.84	0.03151	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	2.094000	0.01653	N	0.024664	T	0.47691	0.1459	N	0.25380	0.74	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25047	-1.0143	10	0.13853	T	0.58	7.0E-4	6.305	0.21133	0.2158:0.321:0.4632:0.0	.	211	Q9HBE5	IL21R_HUMAN	R	211	ENSP00000338010:Q211R;ENSP00000379104:Q211R;ENSP00000379103:Q211R	ENSP00000338010:Q211R	Q	+	2	0	IL21R	27363488	0.000000	0.05858	0.009000	0.14445	0.571000	0.35966	-0.469000	0.06648	-0.549000	0.06191	-0.441000	0.05720	CAG		0.582	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2		NM_181078	
ISOC1	51015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	128441025	128441025	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr5:128441025G>C	ENST00000173527.5	+	3	593	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	193						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)	p.E193Q(1)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		ACCAGAAGTAGAAGCGGCATT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											106.0	105.0	105.0					5																	128441025		2048	4227	6275	SO:0001583	missense	51015			AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.577G>C	5.37:g.128441025G>C	ENSP00000173527:p.Glu193Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z770	Missense_Mutation	SNP	ENST00000173527.5	37	CCDS43357.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799345	0.50208	.	.	ENSG00000066583	ENST00000506986;ENST00000514194;ENST00000173527;ENST00000513879	.	.	.	4.77	4.77	0.60923	Isochorismatase-like (3);	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	N	0.05306	-0.075	0.58432	D	0.999999	B	0.14012	0.009	B	0.11329	0.006	T	0.17868	-1.0355	8	.	.	.	-21.0732	17.3347	0.87277	0.0:0.0:1.0:0.0	.	193	Q96CN7	ISOC1_HUMAN	Q	172;184;193;184	.	.	E	+	1	0	ISOC1	128468924	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	6.597000	0.74118	2.662000	0.90505	0.591000	0.81541	GAA		0.378	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1		NM_016048	
GLTSCR1L	23506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	42832809	42832809	+	Silent	SNP	G	G	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr6:42832809G>A	ENST00000314073.5	+	13	3041	c.2865G>A	c.(2863-2865)ctG>ctA	p.L955L	GLTSCR1L_ENST00000394168.1_Silent_p.L955L			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	955								p.L955L(1)									AGAGCAAACTGTCAAGCATCC	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	80.0	80.0					6																	42832809		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2865G>A	6.37:g.42832809G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	CCDS34451.1																																																																																				0.512	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3		NM_015349	
L1TD1	54596	hgsc.bcm.edu	37	1	62675673	62675674	+	Missense_Mutation	DNP	GC	GC	TA	rs141196718|rs532563709|rs386631745|rs200789118	byFrequency	TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr1:62675673_62675674GC>TA	ENST00000498273.1	+	4	1522_1523	c.1227_1228GC>TA	c.(1225-1230)gaGCcc>gaTAcc	p.409_410EP>DT	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	409	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aggaggaagagccctcagggct	0.554																																																	0																																										SO:0001583	missense	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	Exception_encountered	1.37:g.62675673_62675674delinsTA	ENSP00000419901:p.E409_P410delinsDT	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1																																																																																				0.554	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1		NM_019079	
LIMA1	51474	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50571222	50571222	+	Silent	SNP	T	T	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr12:50571222T>C	ENST00000341247.4	-	11	2054	c.1905A>G	c.(1903-1905)caA>caG	p.Q635Q	LIMA1_ENST00000394943.3_Silent_p.Q636Q|LIMA1_ENST00000552823.1_Silent_p.Q475Q|LIMA1_ENST00000547825.1_Silent_p.Q333Q|LIMA1_ENST00000552491.1_Silent_p.Q332Q|LIMA1_ENST00000552783.1_Silent_p.Q476Q|LIMA1_ENST00000552909.1_Silent_p.Q474Q	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	635					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.Q635Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CATTTTCCACTTGTTTCCTTT	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											283.0	291.0	288.0					12																	50571222		2203	4300	6503	SO:0001819	synonymous_variant	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1905A>G	12.37:g.50571222T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Silent	SNP	ENST00000341247.4	37	CCDS8802.1																																																																																				0.458	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2		NM_016357	
LRRC57	255252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42837393	42837393	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr15:42837393C>A	ENST00000323443.2	-	4	927	c.560G>T	c.(559-561)tGt>tTt	p.C187F	LRRC57_ENST00000563454.1_Missense_Mutation_p.C187F|LRRC57_ENST00000397130.3_Missense_Mutation_p.C187F			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	187						extracellular vesicular exosome (GO:0070062)		p.C187F(1)		breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		GAGCTCAAGACAATTCTCTTC	0.408																																																	1	Substitution - Missense(1)	kidney(1)											95.0	90.0	92.0					15																	42837393		2203	4299	6502	SO:0001583	missense	255252			AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.560G>T	15.37:g.42837393C>A	ENSP00000326817:p.Cys187Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.690002	0.88735	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.51325	0.71;0.71	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79152	-0.1921	10	0.72032	D	0.01	.	19.0849	0.93200	0.0:1.0:0.0:0.0	.	187	Q8N9N7	LRC57_HUMAN	F	187	ENSP00000326817:C187F;ENSP00000380319:C187F	ENSP00000326817:C187F	C	-	2	0	LRRC57	40624685	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.264000	0.78432	2.520000	0.84964	0.557000	0.71058	TGT		0.408	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1		NM_153260	
MAN2A1	4124	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	109110522	109110522	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr5:109110522G>C	ENST00000261483.4	+	8	2282	c.1230G>C	c.(1228-1230)aaG>aaC	p.K410N		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	410					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.K410N(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACCGAAAGAAGTCAAAGCTTT	0.373																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											76.0	75.0	75.0					5																	109110522		2202	4300	6502	SO:0001583	missense	4124				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1230G>C	5.37:g.109110522G>C	ENSP00000261483:p.Lys410Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039157	0.75617	.	.	ENSG00000112893	ENST00000261483	T	0.74315	-0.83	5.95	2.95	0.34219	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	D	0.86851	0.6032	M	0.91768	3.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86779	0.1978	10	0.87932	D	0	-22.6355	8.9454	0.35756	0.3:0.0:0.7:0.0	.	410	Q16706	MA2A1_HUMAN	N	410	ENSP00000261483:K410N	ENSP00000261483:K410N	K	+	3	2	MAN2A1	109138421	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.840000	0.48215	0.717000	0.32145	0.563000	0.77884	AAG		0.373	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			
MLLT10	8028	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	22023041	22023041	+	Silent	SNP	A	A	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr10:22023041A>C	ENST00000307729.7	+	20	3019	c.2841A>C	c.(2839-2841)ccA>ccC	p.P947P	MLLT10_ENST00000377072.3_Silent_p.P963P|MLLT10_ENST00000446906.2_Silent_p.P947P|MLLT10_ENST00000377059.3_Silent_p.P947P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	947					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P963P(1)|p.P947P(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATCCAATGCCAGCTACACTGA	0.443			T	"""MLL, PICALM, CDK6"""	AL																																			Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	2	Substitution - coding silent(2)	kidney(2)											112.0	96.0	101.0					10																	22023041		2203	4300	6503	SO:0001819	synonymous_variant	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2841A>C	10.37:g.22023041A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B1ANA8|Q5JT37|Q5VX90|Q66K63	Silent	SNP	ENST00000307729.7	37	CCDS55708.1																																																																																				0.443	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			
MKI67	4288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	129906188	129906188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr10:129906188C>A	ENST00000368654.3	-	13	4291	c.3916G>T	c.(3916-3918)Gag>Tag	p.E1306*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.E946*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1306	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E1306*(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATGTCTTTCTCTTCACCTACT	0.478																																																	1	Substitution - Nonsense(1)	kidney(1)											242.0	230.0	234.0					10																	129906188		2203	4300	6503	SO:0001587	stop_gained	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3916G>T	10.37:g.129906188C>A	ENSP00000357643:p.Glu1306*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	43	10.176730	0.99353	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	3.17	1.23	0.21249	.	1.313530	0.05493	N	0.557023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	5.6448	0.17584	0.1936:0.7017:0.0:0.1047	.	.	.	.	X	1306;946;1305	.	ENSP00000357642:E946X	E	-	1	0	MKI67	129796178	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.219000	0.17641	0.172000	0.19760	0.561000	0.74099	GAG		0.478	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417	
MLLT4	4301	broad.mit.edu;ucsc.edu	37	6	168349093	168349093	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr6:168349093T>G	ENST00000447894.2	+	28	3745	c.3745T>G	c.(3745-3747)Tgg>Ggg	p.W1249G	MLLT4_ENST00000366806.2_Missense_Mutation_p.W1249G|MLLT4_ENST00000344191.4_Missense_Mutation_p.W1249G|MLLT4_ENST00000392108.3_Missense_Mutation_p.W1249G|MLLT4_ENST00000400822.3_Missense_Mutation_p.W1248G|MLLT4_ENST00000351017.4_Missense_Mutation_p.W1256G|MLLT4_ENST00000392112.1_Missense_Mutation_p.W1232G			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1249					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.W1249G(1)|p.W1233G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCAGAACCAGTGGCCAAATTA	0.458			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	2	Substitution - Missense(2)	kidney(2)											90.0	85.0	87.0					6																	168349093		2203	4300	6503	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3745T>G	6.37:g.168349093T>G	ENSP00000404595:p.Trp1249Gly	Somatic		WXS	Illumina GAIIx	Phase_I	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	T	19.06	3.753789	0.69648	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.05025	3.71;3.6;3.71;3.69;3.51;3.6;3.6	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	M	0.72479	2.2	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;0.993	D;D;D;P	0.91635	0.993;0.999;0.995;0.895	T	0.00605	-1.1648	10	0.54805	T	0.06	-2.0E-4	15.6454	0.77046	0.0:0.0:0.0:1.0	.	1249;1248;1249;1233	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	G	1249;1256;1249;1249;1232;1249;1248;1249	ENSP00000341118:W1249G;ENSP00000252692:W1256G;ENSP00000375956:W1249G;ENSP00000355771:W1249G;ENSP00000375960:W1232G;ENSP00000383623:W1248G;ENSP00000404595:W1249G	ENSP00000345834:W1249G	W	+	1	0	MLLT4	168091942	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.491000	0.66887	2.084000	0.62774	0.533000	0.62120	TGG		0.458	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1		NM_005936	
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11217230	11217230	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr1:11217230C>T	ENST00000361445.4	-	30	4524	c.4448G>A	c.(4447-4449)tGc>tAc	p.C1483Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1483	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.C1483F(2)|p.C1483Y(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGCCTCGAGGCAGCGCATGCG	0.527																																																	3	Substitution - Missense(3)	kidney(3)											191.0	177.0	182.0					1																	11217230		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4448G>A	1.37:g.11217230C>T	ENSP00000354558:p.Cys1483Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706336	0.89018	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.70045	-0.45	5.32	5.32	0.75619	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83903	0.5355	M	0.91920	3.255	0.80722	D	1	D	0.65815	0.995	P	0.57911	0.829	D	0.87900	0.2690	10	0.87932	D	0	-11.9694	19.0009	0.92834	0.0:1.0:0.0:0.0	.	1483	P42345	MTOR_HUMAN	Y	1483	ENSP00000354558:C1483Y	ENSP00000354558:C1483Y	C	-	2	0	MTOR	11139817	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.414000	0.80117	2.486000	0.83907	0.655000	0.94253	TGC		0.527	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958	
MYO3A	53904	broad.mit.edu;ucsc.edu	37	10	26377180	26377180	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr10:26377180G>T	ENST00000265944.5	+	15	1574	c.1408G>T	c.(1408-1410)Gta>Tta	p.V470L	MYO3A_ENST00000543632.1_Missense_Mutation_p.V470L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	470	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V470L(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAACAATTTGGTAGAAGCCTT	0.308																																																	1	Substitution - Missense(1)	kidney(1)											56.0	60.0	59.0					10																	26377180		2203	4300	6503	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1408G>T	10.37:g.26377180G>T	ENSP00000265944:p.Val470Leu	Somatic		WXS	Illumina GAIIx	Phase_I	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774755	0.49786	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;D	0.81996	0.24;-1.56	5.64	5.64	0.86602	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	N	0.00525	-1.395	0.80722	D	1	B;B;B	0.22541	0.02;0.025;0.071	B;B;B	0.29785	0.036;0.055;0.107	T	0.61969	-0.6953	10	0.24483	T	0.36	.	16.3298	0.83005	0.0:0.132:0.868:0.0	.	470;470;470	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	L	470	ENSP00000265944:V470L;ENSP00000445909:V470L	ENSP00000265944:V470L	V	+	1	0	MYO3A	26417186	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.636000	0.74299	2.826000	0.97356	0.561000	0.74099	GTA		0.308	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1		NM_017433	
NCOA6	23054	hgsc.bcm.edu;ucsc.edu	37	20	33337538	33337538	+	Silent	SNP	A	A	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr20:33337538A>G	ENST00000374796.2	-	10	5030	c.2460T>C	c.(2458-2460)gaT>gaC	p.D820D	NCOA6_ENST00000359003.2_Silent_p.D820D			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	820	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GAATGCTAACATCAGGCATCA	0.537																																																	0													114.0	100.0	105.0					20																	33337538		2203	4300	6503	SO:0001819	synonymous_variant	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2460T>C	20.37:g.33337538A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071	
NMUR2	56923	broad.mit.edu;hgsc.bcm.edu	37	5	151784191	151784191	+	Missense_Mutation	SNP	G	G	A	rs374625926		TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr5:151784191G>A	ENST00000255262.3	-	1	649	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	162					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.R162W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTGAGGGCCCGGCGCCGGGTG	0.632																																																	1	Substitution - Missense(1)	kidney(1)						G	TRP/ARG	0,4406		0,0,2203	41.0	49.0	47.0		484	2.3	0.9	5		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	NMUR2	NM_020167.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	162/416	151784191	1,13005	2203	4300	6503	SO:0001583	missense	56923			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.484C>T	5.37:g.151784191G>A	ENSP00000255262:p.Arg162Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574648	0.45902	0.0	1.16E-4	ENSG00000132911	ENST00000255262	T	0.41065	1.01	5.17	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.75436	0.3849	H	0.97829	4.085	0.53688	D	0.999978	D	0.89917	1.0	D	0.81914	0.995	T	0.82426	-0.0463	10	0.87932	D	0	-19.5211	13.4717	0.61285	0.0:0.0:0.4086:0.5914	.	162	Q9GZQ4	NMUR2_HUMAN	W	162	ENSP00000255262:R162W	ENSP00000255262:R162W	R	-	1	2	NMUR2	151764384	1.000000	0.71417	0.896000	0.35187	0.161000	0.22273	4.430000	0.59907	0.136000	0.18733	0.585000	0.79938	CGG		0.632	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1		NM_020167	
TENM1	10178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	123838862	123838862	+	Splice_Site	SNP	C	C	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chrX:123838862C>A	ENST00000371130.3	-	5	1079		c.e5+1		TENM1_ENST00000422452.2_Splice_Site	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1						immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.?(1)									AAAGGACTTACCAATCACATA	0.443																																																	1	Unknown(1)	kidney(1)											151.0	136.0	141.0					X																	123838862		2203	4300	6503	SO:0001630	splice_region_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1015+1G>T	X.37:g.123838862C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RTR5|Q5JZ17	Splice_Site	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383390	0.82792	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8089	0.92050	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ODZ1	123666543	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.783000	0.85696	2.388000	0.81334	0.529000	0.55759	.		0.443	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253	Intron
OR5J2	282775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55944821	55944821	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr11:55944821C>G	ENST00000312298.1	+	1	728	c.728C>G	c.(727-729)tCt>tGt	p.S243C		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S243F(1)|p.S243C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ACCTGTGCCTCTCACCTGACT	0.448																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											138.0	124.0	128.0					11																	55944821		2201	4296	6497	SO:0001583	missense	282775			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.728C>G	11.37:g.55944821C>G	ENSP00000310788:p.Ser243Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826262	0.50739	.	.	ENSG00000174957	ENST00000312298	T	0.39787	1.06	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000038	T	0.74015	0.3661	H	0.94345	3.525	0.48762	D	0.999707	D	0.89917	1.0	D	0.97110	1.0	D	0.83518	0.0084	10	0.87932	D	0	.	16.6913	0.85322	0.0:1.0:0.0:0.0	.	243	Q8NH18	OR5J2_HUMAN	C	243	ENSP00000310788:S243C	ENSP00000310788:S243C	S	+	2	0	OR5J2	55701397	0.872000	0.30054	0.984000	0.44739	0.346000	0.29079	4.687000	0.61708	2.124000	0.65301	0.591000	0.81541	TCT		0.448	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1		NM_001005492	
PATL2	197135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	44964245	44964245	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr15:44964245C>A	ENST00000560775.1	-	6	684	c.625G>T	c.(625-627)Gca>Tca	p.A209S	PATL2_ENST00000560780.1_Missense_Mutation_p.A20S|PATL2_ENST00000434130.1_Missense_Mutation_p.A209S|PATL2_ENST00000558573.1_5'Flank			C9JE40	PATL2_HUMAN	protein associated with topoisomerase II homolog 2 (yeast)	209					negative regulation of cytoplasmic mRNA processing body assembly (GO:0010607)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.A209S(1)		kidney(2)|stomach(1)	3						CGGGGTTTTGCACTCTGCAGC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											127.0	124.0	125.0					15																	44964245		687	1589	2276	SO:0001583	missense	197135			BC036924	CCDS45253.1	15q21.1	2010-06-04			ENSG00000229474	ENSG00000229474			33630	protein-coding gene	gene with protein product		614661				17936923	Standard	NM_001145112		Approved		uc010uej.2	C9JE40		ENST00000560775.1:c.625G>T	15.37:g.44964245C>A	ENSP00000453915:p.Ala209Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000560775.1	37	CCDS45253.1	.	.	.	.	.	.	.	.	.	.	C	7.415	0.635450	0.14322	.	.	ENSG00000229474	ENST00000434130	T	0.39787	1.06	5.66	4.74	0.60224	.	.	.	.	.	T	0.26304	0.0642	N	0.11427	0.14	0.22601	N	0.998946	B	0.21688	0.059	B	0.24394	0.053	T	0.14254	-1.0479	9	0.12430	T	0.62	-37.2347	15.5212	0.75869	0.0:0.9251:0.0:0.0749	.	209	C9JE40	PATL2_HUMAN	S	209	ENSP00000416673:A209S	ENSP00000416673:A209S	A	-	1	0	PATL2	42751537	0.587000	0.26791	0.998000	0.56505	0.051000	0.14879	0.800000	0.27042	0.758000	0.33059	-0.797000	0.03246	GCA		0.567	PATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415947.1		NM_001145112	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643401	52643401	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr3:52643401delT	ENST00000296302.7	-	16	2496	c.2495delA	c.(2494-2496)aatfs	p.N832fs	PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N832fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N832fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N847fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N832fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N832fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.N800fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N847fs			Q86U86	PB1_HUMAN	polybromo 1	832	Bromo 6. {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)			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)		ACGGTAGCGATTATTTTCAAC	0.373			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													106.0	105.0	105.0					3																	52643401		2203	4300	6503	SO:0001589	frameshift_variant	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.2495delA	3.37:g.52643401delT	ENSP00000296302:p.Asn832fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PDE3A	5139	broad.mit.edu;ucsc.edu	37	12	20801757	20801757	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr12:20801757G>T	ENST00000359062.3	+	13	2741	c.2701G>T	c.(2701-2703)Gtc>Ttc	p.V901F	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	901	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.V901F(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCGTTTCCTTGTCATTGAAGC	0.403																																																	1	Substitution - Missense(1)	kidney(1)											125.0	115.0	119.0					12																	20801757		2203	4300	6503	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2701G>T	12.37:g.20801757G>T	ENSP00000351957:p.Val901Phe	Somatic		WXS	Illumina GAIIx	Phase_I	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852566	0.91355	.	.	ENSG00000172572	ENST00000359062	D	0.84516	-1.86	5.63	5.63	0.86233	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92727	0.7688	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93081	0.6491	10	0.87932	D	0	.	19.6772	0.95941	0.0:0.0:1.0:0.0	.	901	Q14432	PDE3A_HUMAN	F	901	ENSP00000351957:V901F	ENSP00000351957:V901F	V	+	1	0	PDE3A	20693024	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.336000	0.96533	2.653000	0.90120	0.557000	0.71058	GTC		0.403	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			
PIGN	23556	hgsc.bcm.edu;ucsc.edu	37	18	59821799	59821799	+	Silent	SNP	C	C	G	rs144304758	byFrequency	TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr18:59821799C>G	ENST00000357637.5	-	7	943	c.528G>C	c.(526-528)acG>acC	p.T176T	PIGN_ENST00000400334.3_Silent_p.T176T	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	176					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CAAAAACCCACGTATCCAGTT	0.343																																																	0													141.0	136.0	138.0					18																	59821799		1833	4088	5921	SO:0001819	synonymous_variant	23556			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.528G>C	18.37:g.59821799C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q7L8F8|Q8TC01|Q9NT05	Silent	SNP	ENST00000357637.5	37	CCDS45879.1																																																																																				0.343	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2		NM_176787	
PPP1R9A	55607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	94881334	94881334	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr7:94881334A>T	ENST00000433881.1	+	11	3023	c.2491A>T	c.(2491-2493)Aat>Tat	p.N831Y	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.N831Y|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.N831Y|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.N831Y|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.N853Y|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.N831Y			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	831	Interacts with TGN38. {ECO:0000250}.|Poly-Asn.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.N831Y(1)|p.N853Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGTTAACAATAATAACAACAT	0.383										HNSCC(28;0.073)																																							2	Substitution - Missense(2)	kidney(2)											101.0	100.0	101.0					7																	94881334		2203	4300	6503	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2491A>T	7.37:g.94881334A>T	ENSP00000398870:p.Asn831Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.897042	0.72639	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.16743	2.33;2.35;2.32;2.35;2.32;2.32	4.78	4.78	0.61160	.	0.054356	0.64402	D	0.000001	T	0.34048	0.0884	L	0.44542	1.39	0.50813	D	0.999891	D;D;D;D;D	0.89917	0.989;0.998;0.994;1.0;0.978	D;D;D;D;P	0.85130	0.92;0.979;0.983;0.997;0.862	T	0.06127	-1.0844	10	0.62326	D	0.03	.	14.6249	0.68614	1.0:0.0:0.0:0.0	.	831;831;853;831;831	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	Y	853;831;831;831;831;831	ENSP00000405514:N853Y;ENSP00000344524:N831Y;ENSP00000411342:N831Y;ENSP00000398870:N831Y;ENSP00000289495:N831Y;ENSP00000402893:N831Y	ENSP00000289495:N831Y	N	+	1	0	PPP1R9A	94719270	1.000000	0.71417	0.995000	0.50966	0.863000	0.49368	5.699000	0.68310	1.924000	0.55735	0.454000	0.30748	AAT		0.383	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1		NM_001166160	
PRPS2	5634	broad.mit.edu;ucsc.edu	37	X	12817354	12817354	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chrX:12817354G>A	ENST00000380668.5	+	2	279	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	PRPS2_ENST00000489404.1_Missense_Mutation_p.E51K|PRPS2_ENST00000398491.2_Missense_Mutation_p.E51K	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	51					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.E51K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CGTGAGAGGGGAAGATGTCTA	0.493																																																	1	Substitution - Missense(1)	kidney(1)											130.0	113.0	119.0					X																	12817354		2203	4300	6503	SO:0001583	missense	5634			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.151G>A	X.37:g.12817354G>A	ENSP00000370043:p.Glu51Lys	Somatic		WXS	Illumina GAIIx	Phase_I	Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627238	0.87560	.	.	ENSG00000101911	ENST00000380663;ENST00000380668;ENST00000398491;ENST00000489404	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	L	0.37630	1.12	0.80722	D	1	B;B	0.32939	0.14;0.391	B;B	0.40329	0.247;0.326	D	0.84419	0.0570	10	0.27785	T	0.31	-20.7591	19.1045	0.93287	0.0:0.0:1.0:0.0	.	51;51	P11908;P11908-2	PRPS2_HUMAN;.	K	51	ENSP00000370038:E51K;ENSP00000370043:E51K;ENSP00000381504:E51K;ENSP00000419380:E51K	ENSP00000370038:E51K	E	+	1	0	PRPS2	12727275	1.000000	0.71417	0.730000	0.30809	0.993000	0.82548	9.273000	0.95719	2.462000	0.83206	0.513000	0.50165	GAA		0.493	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2		NM_002765	
PTPRZ1	5803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	121651686	121651686	+	Silent	SNP	G	G	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr7:121651686G>A	ENST00000393386.2	+	12	2997	c.2586G>A	c.(2584-2586)gtG>gtA	p.V862V	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	862					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V862V(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTCTGCCAGTGGCTGGGGGTG	0.478																																																	2	Substitution - coding silent(2)	kidney(2)											84.0	83.0	83.0					7																	121651686		2203	4300	6503	SO:0001819	synonymous_variant	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2586G>A	7.37:g.121651686G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	CCDS34740.1																																																																																				0.478	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851	
RPTOR	57521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78727975	78727975	+	Missense_Mutation	SNP	G	G	A	rs148973724		TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr17:78727975G>A	ENST00000306801.3	+	6	1182	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	RPTOR_ENST00000570891.1_Missense_Mutation_p.A274T|RPTOR_ENST00000537330.1_Missense_Mutation_p.A89T|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.A274T	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	274					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A274T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CATCAAGATCGCCCTGCGCTG	0.677																																																	1	Substitution - Missense(1)	kidney(1)						G	THR/ALA,THR/ALA	0,4406		0,0,2203	105.0	107.0	106.0		820,820	5.7	1.0	17	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	RPTOR	NM_001163034.1,NM_020761.2	58,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	274/1178,274/1336	78727975	2,13004	2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.820G>A	17.37:g.78727975G>A	ENSP00000307272:p.Ala274Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740803	0.96873	0.0	2.33E-4	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.60040	0.22;0.23	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	M	0.93016	3.37	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.988;0.998;0.979	D	0.86435	0.1763	10	0.87932	D	0	.	19.8057	0.96531	0.0:0.0:1.0:0.0	.	274;89;274	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	T	89;274;274	ENSP00000307272:A274T;ENSP00000442479:A274T	ENSP00000307272:A274T	A	+	1	0	RPTOR	76342570	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.776000	0.85560	2.682000	0.91365	0.655000	0.94253	GCC		0.677	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1		NM_020761	
RTTN	25914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	67742714	67742714	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr18:67742714G>A	ENST00000255674.6	-	33	4724	c.4438C>T	c.(4438-4440)Ctt>Ttt	p.L1480F	RTTN_ENST00000437017.1_Missense_Mutation_p.L1480F|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1480					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.L1480F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGATATAAAAGAGCCTGAAGG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											73.0	71.0	72.0					18																	67742714		1861	4085	5946	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4438C>T	18.37:g.67742714G>A	ENSP00000255674:p.Leu1480Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109338	0.77096	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.77620	-0.43;-1.11	5.52	5.52	0.82312	.	0.132406	0.51477	D	0.000082	D	0.87192	0.6116	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88160	0.2857	10	0.87932	D	0	.	17.6306	0.88106	0.0:0.0:1.0:0.0	.	1480	Q86VV8	RTTN_HUMAN	F	1480	ENSP00000255674:L1480F;ENSP00000399520:L1480F	ENSP00000255674:L1480F	L	-	1	0	RTTN	65893694	1.000000	0.71417	0.387000	0.26183	0.757000	0.42996	4.922000	0.63404	2.585000	0.87301	0.555000	0.69702	CTT		0.418	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1		NM_173630	
SDK2	54549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	71415436	71415436	+	Silent	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr17:71415436G>T	ENST00000392650.3	-	16	2055	c.2055C>A	c.(2053-2055)ctC>ctA	p.L685L	SDK2_ENST00000388726.3_Silent_p.L685L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	685	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L685L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCTCCTCGGGGAGGGAGACCC	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											44.0	42.0	42.0					17																	71415436		2203	4300	6503	SO:0001819	synonymous_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2055C>A	17.37:g.71415436G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	CCDS45769.1																																																																																				0.592	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2		NM_019064	
SHANK3	85358	hgsc.bcm.edu;ucsc.edu	37	22	51143424	51143425	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr22:51143424_51143425insA	ENST00000414786.2	+	16	2114_2115	c.1887_1888insA	c.(1888-1890)aagfs	p.K630fs	SHANK3_ENST00000262795.3_Frame_Shift_Ins_p.K660fs|SHANK3_ENST00000445220.2_Frame_Shift_Ins_p.K645fs			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	644	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGGTCGGACACAAGCAGGTGGT	0.634																																																	0																																										SO:0001589	frameshift_variant	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1889dupA	22.37:g.51143426_51143426dupA	ENSP00000464552:p.Lys630fs	Somatic		WXS	Illumina HiSeq	Phase_I	D7UT47|Q8TET3	Frame_Shift_Ins	INS	ENST00000414786.2	37																																																																																					0.634	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2		NM_001080420	
SHISA4	149345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201860697	201860697	+	Splice_Site	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr1:201860697G>T	ENST00000362011.6	+	4	834		c.e4+1		SHISA4_ENST00000464117.1_Splice_Site|RP11-307B6.3_ENST00000414927.1_RNA	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4							integral component of membrane (GO:0016021)		p.?(1)		kidney(1)|lung(4)	5						AACCCTGCAGGTAAGTAAGCA	0.607																																																	1	Unknown(1)	kidney(1)											81.0	84.0	83.0					1																	201860697		2203	4300	6503	SO:0001630	splice_region_variant	149345			AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"""Shisa homologs"""	27139	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 40"", ""transmembrane protein 58"", ""shisa homolog 4 (Xenopus laevis)"""	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.547+1G>T	1.37:g.201860697G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Splice_Site	SNP	ENST00000362011.6	37	CCDS1416.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133613	0.56828	.	.	ENSG00000198892	ENST00000362011	.	.	.	5.84	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8745	0.57982	0.0789:0.0:0.9211:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SHISA4	200127320	1.000000	0.71417	0.999000	0.59377	0.739000	0.42172	6.304000	0.72800	1.478000	0.48253	0.561000	0.74099	.		0.607	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087096.1		NM_198149	Intron
SLITRK5	26050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	88329572	88329572	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr13:88329572G>T	ENST00000325089.6	+	2	2148	c.1929G>T	c.(1927-1929)ttG>ttT	p.L643F	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L402F	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	643					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.L643F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGGTCCGGTTGAATAGCACCG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											73.0	77.0	75.0					13																	88329572		2203	4300	6503	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1929G>T	13.37:g.88329572G>T	ENSP00000366283:p.Leu643Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	9.638	1.138268	0.21123	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58797	0.31;0.66	5.47	-2.11	0.07187	.	1.347340	0.04937	N	0.458023	T	0.20861	0.0502	N	0.00729	-1.24	0.18873	N	0.999987	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10965	-1.0607	9	.	.	.	1.6149	4.0727	0.09889	0.1913:0.497:0.2038:0.108	.	402;643	B4DSH5;O94991	.;SLIK5_HUMAN	F	643;402	ENSP00000366283:L643F;ENSP00000442244:L402F	.	L	+	3	2	SLITRK5	87127573	0.000000	0.05858	0.012000	0.15200	0.889000	0.51656	-0.195000	0.09546	-0.388000	0.07797	0.555000	0.69702	TTG		0.612	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			
SPATA5	166378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	123868400	123868400	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr4:123868400G>T	ENST00000274008.4	+	9	1540	c.1471G>T	c.(1471-1473)Gga>Tga	p.G491*	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	491					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.G491*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGTAAGTGAAGGACAAGTGTT	0.398																																																	1	Substitution - Nonsense(1)	kidney(1)											35.0	30.0	32.0					4																	123868400		2203	4300	6503	SO:0001587	stop_gained	166378			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1471G>T	4.37:g.123868400G>T	ENSP00000274008:p.Gly491*	Somatic		WXS	Illumina HiSeq	Phase_I	C9JT97|Q86XW1|Q8NI20|Q8TDL7	Nonsense_Mutation	SNP	ENST00000274008.4	37	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	40	8.014272	0.98610	.	.	ENSG00000145375	ENST00000274008	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.7288	19.3742	0.94502	0.0:0.0:1.0:0.0	.	.	.	.	X	491	.	ENSP00000274008:G491X	G	+	1	0	SPATA5	124087850	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.623000	0.90957	2.581000	0.87130	0.650000	0.86243	GGA		0.398	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2		NM_145207	
SYT15	83849	hgsc.bcm.edu	37	10	46968665	46968665	+	Silent	SNP	G	G	A	rs200814731	byFrequency	TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr10:46968665G>A	ENST00000374321.4	-	3	337	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	SYT15_ENST00000374323.4_Silent_p.L144L|SYT15_ENST00000374325.3_Silent_p.L91L|SYT15_ENST00000503753.1_Silent_p.L91L|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCACTGTGCAGGGGCACCCAA	0.632													G|||	469	0.0936502	0.1051	0.0764	5008	,	,		35813	0.0496		0.1282	False		,,,				2504	0.1002				Ovarian(57;1152 1428 19651 37745)												0								G	,	277,3977		0,277,1850	55.0	65.0	62.0		271,271	2.7	0.2	10	dbSNP_132	62	613,7885		0,613,3636	no	coding-synonymous,coding-synonymous	SYT15	NM_031912.4,NM_181519.2	,	0,890,5486	AA,AG,GG		7.2135,6.5115,6.9793	,	91/422,91/391	46968665	890,11862	2127	4249	6376	SO:0001819	synonymous_variant	83849			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.271C>T	10.37:g.46968665G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	CCDS44376.1																																																																																				0.632	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1		NM_031912	
TAZ	6901	broad.mit.edu;hgsc.bcm.edu	37	X	153649048	153649048	+	Missense_Mutation	SNP	C	C	G	rs372689133		TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chrX:153649048C>G	ENST00000350743.4	+	9	950	c.661C>G	c.(661-663)Cgg>Ggg	p.R221G	TAZ_ENST00000351413.4_Missense_Mutation_p.R237G|TAZ_ENST00000369776.4_Missense_Mutation_p.R221G|TAZ_ENST00000299328.5_Missense_Mutation_p.R251G|TAZ_ENST00000475699.1_Missense_Mutation_p.R224G|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000369790.4_Missense_Mutation_p.R207G	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R251G(1)		lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTACTCGAGCGGCTCCGGGC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											72.0	68.0	69.0					X																	153649048		2203	4300	6503	SO:0001583	missense	6901			X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.661C>G	X.37:g.153649048C>G	ENSP00000338891:p.Arg221Gly	Somatic		WXS	Illumina HiSeq	Phase_I	D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288021	0.23478	.	.	ENSG00000102125	ENST00000369790;ENST00000299328;ENST00000350743;ENST00000351413;ENST00000369776;ENST00000475699	D;D;D;D;D;D	0.98996	-5.28;-5.28;-5.31;-5.29;-4.96;-5.16	4.79	4.79	0.61399	.	0.482590	0.21108	N	0.080035	D	0.98419	0.9474	L	0.40543	1.245	0.27724	N	0.945012	B;B;B;B;B;D	0.69078	0.449;0.427;0.082;0.127;0.102;0.997	B;B;B;B;B;D	0.76071	0.115;0.201;0.065;0.052;0.168;0.987	D	0.95116	0.8242	10	0.30078	T	0.28	-0.1068	9.8545	0.41077	0.2042:0.7958:0.0:0.0	.	255;221;207;221;237;251	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	G	207;251;221;237;221;224	ENSP00000358805:R207G;ENSP00000299328:R251G;ENSP00000338891:R221G;ENSP00000218246:R237G;ENSP00000358791:R221G;ENSP00000419854:R224G	ENSP00000299328:R251G	R	+	1	2	TAZ	153302242	1.000000	0.71417	0.995000	0.50966	0.394000	0.30568	1.480000	0.35464	1.995000	0.58328	0.525000	0.51046	CGG		0.642	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1			
TMEM151B	441151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44240820	44240820	+	Silent	SNP	C	C	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr6:44240820C>T	ENST00000451188.2	+	2	430	c.153C>T	c.(151-153)ccC>ccT	p.P51P	RP11-444E17.6_ENST00000505802.1_5'Flank|TMEM151B_ENST00000438774.2_Silent_p.P51P	NM_001137560.1	NP_001131032.1	Q8IW70	T151B_HUMAN	transmembrane protein 151B	51						integral component of membrane (GO:0016021)		p.P51P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)	6						CCATCCAGCCCTCTTTCACCA	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											143.0	121.0	128.0					6																	44240820		692	1591	2283	SO:0001819	synonymous_variant	441151			AK126839	CCDS47437.1	6p21.1	2009-04-17	2007-10-25	2007-10-25	ENSG00000178233	ENSG00000178233			21315	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 137"", ""transmembrane protein 193"""	C6orf137, TMEM193			Standard	NM_001137560		Approved	bA444E17.5	uc003oxh.2	Q8IW70	OTTHUMG00000014765	ENST00000451188.2:c.153C>T	6.37:g.44240820C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T9V7	Silent	SNP	ENST00000451188.2	37	CCDS47437.1																																																																																				0.632	TMEM151B-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040740.2		NM_001039704	
TSHZ3	57616	broad.mit.edu;hgsc.bcm.edu	37	19	31770507	31770507	+	Silent	SNP	G	G	A	rs375736734		TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr19:31770507G>A	ENST00000240587.4	-	2	519	c.192C>T	c.(190-192)gcC>gcT	p.A64A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	64					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A64A(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AAAACTCGGCGGCCGGGGAGT	0.592																																																	1	Substitution - coding silent(1)	kidney(1)						G		1,3911		0,1,1955	31.0	33.0	32.0		192	-11.8	0.0	19		32	1,8259		0,1,4129	no	coding-synonymous	TSHZ3	NM_020856.2		0,2,6084	AA,AG,GG		0.0121,0.0256,0.0164		64/1082	31770507	2,12170	1956	4130	6086	SO:0001819	synonymous_variant	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.192C>T	19.37:g.31770507G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																				0.592	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2		NM_020856	
UPF2	26019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12009344	12009344	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr10:12009344A>G	ENST00000356352.2	-	9	2536	c.2063T>C	c.(2062-2064)tTa>tCa	p.L688S	UPF2_ENST00000397053.2_Missense_Mutation_p.L688S|UPF2_ENST00000357604.5_Missense_Mutation_p.L688S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	688	MIF4G 2.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.L688S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ACTAACCTTTAAACAATGCAG	0.254																																																	1	Substitution - Missense(1)	kidney(1)											96.0	91.0	92.0					10																	12009344		2201	4295	6496	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2063T>C	10.37:g.12009344A>G	ENSP00000348708:p.Leu688Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989256	0.74589	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.27720	1.65;1.65;1.65	5.16	5.16	0.70880	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.64402	D	0.000016	T	0.62938	0.2469	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72134	-0.4382	10	0.87932	D	0	.	14.6475	0.68772	1.0:0.0:0.0:0.0	.	688	Q9HAU5	RENT2_HUMAN	S	688	ENSP00000348708:L688S;ENSP00000350221:L688S;ENSP00000380244:L688S	ENSP00000348708:L688S	L	-	2	0	UPF2	12049350	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.702000	0.91338	1.943000	0.56356	0.482000	0.46254	TTA		0.254	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191479	10191480	+	Frame_Shift_Ins	INS	-	-	T	rs121913346		TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr3:10191479_10191480insT	ENST00000256474.2	+	3	1312_1313	c.472_473insT	c.(472-474)ctgfs	p.L158fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Ins_p.L117fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex). {ECO:0000269|PubMed:10635329, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> V (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L158V(12)|p.L158Q(6)|p.L158P(5)|p.L158fs*16(2)|p.V155fs*15(2)|p.L158R(1)|p.L158_K159del(1)|p.T157fs*14(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158fs*1(1)|p.L158>?(1)|p.L158fs*15(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGTGTATACTCTGAAAGAGCGA	0.5		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"""	38	Substitution - Missense(24)|Deletion - Frameshift(7)|Deletion - In frame(3)|Insertion - Frameshift(2)|Complex - deletion inframe(1)|Complex(1)	kidney(37)|soft_tissue(1)	GRCh37	CI024083|CI962364|CM941379|CM941380	VHL	I|M	rs121913346																																			SO:0001589	frameshift_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.473dupT	3.37:g.10191480_10191480dupT	ENSP00000256474:p.Leu158fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.500	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
FAM104A	84923	broad.mit.edu	37	17	71205829	71205829	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr17:71205829C>G	ENST00000403627.3	-	3	460	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	FAM104A_ENST00000580032.1_Missense_Mutation_p.E44Q|FAM104A_ENST00000581110.1_Silent_p.R100R|FAM104A_ENST00000583024.1_Silent_p.R106R|FAM104A_ENST00000405159.3_Missense_Mutation_p.E155Q|FAM104A_ENST00000583178.1_5'UTR	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	134	Ser-rich.							p.E68Q(1)|p.E155Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			AAGCTGCCTTCCGGCCCGCTG	0.617																																																	2	Substitution - Missense(2)	kidney(2)											32.0	26.0	28.0					17																	71205829		2161	4192	6353	SO:0001583	missense	84923			AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.400G>C	17.37:g.71205829C>G	ENSP00000384648:p.Glu134Gln	Somatic		WXS	Illumina GAIIx	Phase_I	B4E339	Missense_Mutation	SNP	ENST00000403627.3	37	CCDS11693.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042603	0.75732	.	.	ENSG00000133193	ENST00000403627;ENST00000405159	T;T	0.54675	0.56;0.56	6.17	5.2	0.72013	.	0.000000	0.64402	D	0.000001	T	0.72317	0.3445	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.937	T	0.76490	-0.2940	10	0.87932	D	0	.	17.0431	0.86495	0.1282:0.8718:0.0:0.0	.	155;134	Q969W3-2;Q969W3	.;F104A_HUMAN	Q	134;155	ENSP00000384648:E134Q;ENSP00000384832:E155Q	ENSP00000384648:E134Q	E	-	1	0	FAM104A	68717424	1.000000	0.71417	0.184000	0.23157	0.979000	0.70002	6.434000	0.73408	1.610000	0.50200	0.655000	0.94253	GAA		0.617	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1		NM_032837	
FANCA	2175	broad.mit.edu	37	16	89877420	89877420	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr16:89877420C>G	ENST00000389301.3	-	4	373	c.343G>C	c.(343-345)Ggg>Cgg	p.G115R	FANCA_ENST00000563673.1_Missense_Mutation_p.G115R|FANCA_ENST00000534992.1_Missense_Mutation_p.G115R|FANCA_ENST00000389302.3_Missense_Mutation_p.G115R|FANCA_ENST00000543736.1_Missense_Mutation_p.G115R|FANCA_ENST00000568369.1_Missense_Mutation_p.G115R	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	115					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G115R(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCAACCATCCCGGCTGAGAGA	0.537			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	1	Substitution - Missense(1)	kidney(1)											94.0	101.0	98.0					16																	89877420		2198	4300	6498	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.343G>C	16.37:g.89877420C>G	ENSP00000373952:p.Gly115Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	0.245	-1.010719	0.02095	.	.	ENSG00000187741	ENST00000389301;ENST00000389302;ENST00000534992;ENST00000543736	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.06	-0.468	0.12146	.	1.035320	0.07719	N	0.943245	T	0.13072	0.0317	N	0.00841	-1.15	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.28933	-1.0028	10	0.10111	T	0.7	-3.1194	8.3409	0.32243	0.0:0.0903:0.5224:0.3873	.	115;115;115;115;115;115	B4DRI7;Q0VAP4;A0PJU8;F5H8D5;O15360-2;O15360	.;.;.;.;.;FANCA_HUMAN	R	115	ENSP00000373952:G115R;ENSP00000373953:G115R;ENSP00000443675:G115R;ENSP00000443409:G115R	ENSP00000373952:G115R	G	-	1	0	FANCA	88404921	0.029000	0.19370	0.000000	0.03702	0.000000	0.00434	0.289000	0.18957	0.102000	0.17638	-1.299000	0.01334	GGG		0.537	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			
FANCF	2188	broad.mit.edu	37	11	22647097	22647097	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr11:22647097delC	ENST00000327470.3	-	1	290	c.260delG	c.(259-261)ggtfs	p.G87fs	AC103801.2_ENST00000428556.2_Frame_Shift_Del_p.T14fs	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	87					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GTCACAGTGACCGAGGGCCTG	0.662			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											yes	Rec		Fanconi anaemia F	11	11p15	2188	"""Fanconi anemia, complementation group F"""		L	0													54.0	61.0	59.0					11																	22647097		2203	4299	6502	SO:0001589	frameshift_variant	2188	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.260delG	11.37:g.22647097delC	ENSP00000330875:p.Gly87fs	Somatic	757	WXS	Illumina GAIIx	Phase_I	Q52LM0	Frame_Shift_Del	DEL	ENST00000327470.3	37	CCDS7857.1																																																																																				0.662	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2		NM_022725	
FARP1	10160	broad.mit.edu	37	13	99092447	99092447	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr13:99092447A>G	ENST00000319562.6	+	23	2852	c.2587A>G	c.(2587-2589)Agc>Ggc	p.S863G	FARP1_ENST00000376586.2_Missense_Mutation_p.S894G|FARP1_ENST00000595437.1_Missense_Mutation_p.S894G	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	863					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S863G(1)|p.S894G(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GAAGAGCAGCAGCCCCGCCCC	0.612																																																	2	Substitution - Missense(2)	kidney(2)											95.0	104.0	101.0					13																	99092447		2203	4300	6503	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2587A>G	13.37:g.99092447A>G	ENSP00000322926:p.Ser863Gly	Somatic		WXS	Illumina GAIIx	Phase_I	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	A	1.740	-0.491819	0.04322	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.78924	-1.22;-1.04	5.08	3.23	0.37069	.	0.406537	0.26297	N	0.025183	T	0.44623	0.1302	N	0.00972	-1.085	0.23082	N	0.998325	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33854	-0.9852	10	0.08837	T	0.75	.	9.8982	0.41331	0.0738:0.0:0.7881:0.1381	.	863;894	Q9Y4F1;C9JME2	FARP1_HUMAN;.	G	894;863	ENSP00000365771:S894G;ENSP00000322926:S863G	ENSP00000322926:S863G	S	+	1	0	FARP1	97890448	1.000000	0.71417	0.708000	0.30435	0.337000	0.28794	3.960000	0.56752	0.517000	0.28361	-0.337000	0.08149	AGC		0.612	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3		NM_005766	
Unknown	0	broad.mit.edu	37	9	66502885	66502885	+	IGR	DEL	A	A	-	rs202240604|rs201327930		TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr9:66502885delA								RP11-262H14.1 (33575 upstream) : RP11-262H14.7 (14320 downstream)																							AGTGGCAAATATTTTTTTTTT	0.308																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.66502885delA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL		37																																																																																				0	0.308									
NEFM	4741	broad.mit.edu	37	8	24775663	24775663	+	Silent	SNP	G	G	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr8:24775663G>A	ENST00000221166.5	+	3	3077	c.2295G>A	c.(2293-2295)ggG>ggA	p.G765G	NEFM_ENST00000433454.2_Silent_p.G389G|NEFM_ENST00000437366.2_Silent_p.G726G|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	765	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.G765G(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		aagaagaggggaagccactgc	0.532																																																	3	Substitution - coding silent(3)	kidney(3)											31.0	20.0	24.0					8																	24775663		2058	4009	6067	SO:0001819	synonymous_variant	4741			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2295G>A	8.37:g.24775663G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	ENST00000221166.5	37	CCDS6046.1																																																																																				0.532	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2		NM_005382	
PCDH11Y	83259	broad.mit.edu	37	Y	4966255	4966255	+	Splice_Site	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chrY:4966255G>T	ENST00000333703.4	+	5	1116		c.e5-1		PCDH11Y_ENST00000362095.5_Splice_Site|PCDH11Y_ENST00000215473.6_Splice_Site	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(3)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATGTTTTCCAGAGTCAAAACA	0.284																																																	3	Unknown(3)	kidney(3)											21.0	17.0	18.0					Y																	4966255		602	1911	2513	SO:0001630	splice_region_variant	83259			AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.604-1G>T	Y.37:g.4966255G>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Splice_Site	SNP	ENST00000333703.4	37	CCDS14776.1																																																																																				0.284	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2		NM_032973	Intron
ROCK1P1	727758	broad.mit.edu	37	18	109344	109344	+	RNA	SNP	T	T	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr18:109344T>A	ENST00000608049.1	+	0	280					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		aggctttgcctacaggggaca	0.483																																																	0																																												0					18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.109344T>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000608049.1	37																																																																																					0.483	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			
POTEC	388468	broad.mit.edu	37	18	14542931	14542931	+	Missense_Mutation	SNP	C	C	T	rs45554841	byFrequency	TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr18:14542931C>T	ENST00000358970.5	-	1	214	c.215G>A	c.(214-216)tGc>tAc	p.C72Y	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	72			C -> Y (in dbSNP:rs45554841).					p.C72Y(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCTCCCCCTGCAGCAGGGGAA	0.567																																																	1	Substitution - Missense(1)	kidney(1)											46.0	57.0	53.0					18																	14542931		692	1591	2283	SO:0001583	missense	388468			BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.215G>A	18.37:g.14542931C>T	ENSP00000351856:p.Cys72Tyr	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000358970.5	37	CCDS45835.1	314	0.14377289377289376	36	0.07317073170731707	62	0.1712707182320442	149	0.26048951048951047	67	0.08839050131926121	C	10.16	1.272916	0.23221	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.39592	1.07	0.429	0.429	0.16506	.	.	.	.	.	T	0.00012	0.0000	L	0.46157	1.445	0.80722	P	0.0	D	0.63046	0.992	D	0.74023	0.982	T	0.14172	-1.0482	7	0.87932	D	0	.	.	.	.	rs45554841;rs60359173	72	B2RU33	POTEC_HUMAN	Y	72	ENSP00000351856:C72Y	ENSP00000351856:C72Y	C	-	2	0	POTEC	14532931	0.007000	0.16637	0.005000	0.12908	0.090000	0.18270	-0.364000	0.07583	0.472000	0.27344	0.175000	0.17021	TGC		0.567	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1		XM_496269	
MIR4477B	100616194	broad.mit.edu	37	9	68413581	68413581	+	RNA	SNP	G	G	C	rs1809619	byFrequency	TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr9:68413581G>C	ENST00000581659.1	+	0	0					NR_039688.1|NR_039689.1				microRNA 4477b																		CCGGATCTAGGAAAGGTTGTG	0.602																																																	0																																												0					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68413581G>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000581659.1	37																																																																																					0.602	MIR4477B-201	KNOWN	basic	miRNA	miRNA			NR_039689	
Unknown	0	broad.mit.edu	37	9	70182345	70182346	+	IGR	DEL	TG	TG	-	rs202095854|rs201125425|rs200827494	byFrequency	TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr9:70182345_70182346delTG								FOXD4L5 (3530 upstream) : FOXD4L4 (244276 downstream)																							TTCTGTGTATTGTTTTTTTTTT	0.238																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.70182345_70182346delTG		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL		37																																																																																				0	0.238									
ZNF469	84627	broad.mit.edu	37	16	88498001	88498001	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr16:88498001C>G	ENST00000437464.1	+	2	4039	c.4039C>G	c.(4039-4041)Ccc>Gcc	p.P1347A	ZNF469_ENST00000565624.1_Missense_Mutation_p.P1375A	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	1347	Pro-rich.				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.P1347A(1)		breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						GGGGCCTCAGCCCTACAGCAG	0.572																																																	1	Substitution - Missense(1)	kidney(1)											27.0	27.0	27.0					16																	88498001		692	1591	2283	SO:0001583	missense	84627			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.4039C>G	16.37:g.88498001C>G	ENSP00000402343:p.Pro1347Ala	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000437464.1	37	CCDS45544.1	.	.	.	.	.	.	.	.	.	.	C	6.417	0.445151	0.12164	.	.	ENSG00000225614	ENST00000437464	T	0.08102	3.13	4.75	-3.51	0.04696	.	.	.	.	.	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.41910	-0.9482	9	0.40728	T	0.16	.	6.3706	0.21479	0.0:0.4093:0.2685:0.3222	.	1347	Q96JG9	ZN469_HUMAN	A	1347	ENSP00000402343:P1347A	ENSP00000402343:P1347A	P	+	1	0	ZNF469	87025502	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.388000	0.02533	-0.461000	0.06993	-1.149000	0.01842	CCC		0.572	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NG_012236	
