#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACOT6	641372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74086150	74086150	+	Silent	SNP	T	T	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr14:74086150T>C	ENST00000381139.1	+	2	562	c.231T>C	c.(229-231)acT>acC	p.T77T	RP3-414A15.10_ENST00000555011.1_RNA|RP3-414A15.10_ENST00000555500.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	77						cytosol (GO:0005829)	carboxylic ester hydrolase activity (GO:0052689)	p.T77T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GATTTCTCACTTTTATGGACA	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											103.0	95.0	98.0					14																	74086150		2203	4300	6503	SO:0001819	synonymous_variant	641372			DQ082756, BF109853	CCDS32118.1	14q24.3	2011-02-16			ENSG00000205669	ENSG00000205669		"""Acyl CoA thioesterases"""	33159	protein-coding gene	gene with protein product		614267	"""chromosome 14 open reading frame 42"""	C14orf42		16940157	Standard	NM_001037162		Approved		uc001xop.3	Q3I5F7		ENST00000381139.1:c.231T>C	14.37:g.74086150T>C				Silent	SNP	ENST00000381139.1	37	CCDS32118.1																																																																																				0.408	ACOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414437.1		NM_001037162	
ADAM10	102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	58925400	58925400	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr15:58925400A>G	ENST00000260408.3	-	9	1614	c.1171T>C	c.(1171-1173)Tcc>Ccc	p.S391P	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.S90P|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	391	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.S391P(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CTTACTGGGGATCCAAAGTTA	0.318																																																	1	Substitution - Missense(1)	kidney(1)											74.0	72.0	73.0					15																	58925400		2192	4292	6484	SO:0001583	missense	102			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1171T>C	15.37:g.58925400A>G	ENSP00000260408:p.Ser391Pro		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702250	0.88924	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	D;D	0.86694	-2.16;-2.16	5.82	5.82	0.92795	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.94172	0.8130	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94369	0.7594	10	0.49607	T	0.09	-21.0726	16.1839	0.81934	1.0:0.0:0.0:0.0	.	90;391	B4DU28;O14672	.;ADA10_HUMAN	P	391;210;90	ENSP00000260408:S391P;ENSP00000379444:S90P	ENSP00000260408:S391P	S	-	1	0	ADAM10	56712692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.222000	0.72286	0.533000	0.62120	TCC		0.318	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2		NM_001110	
AGL	178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100336085	100336085	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:100336085A>T	ENST00000294724.4	+	6	1272	c.794A>T	c.(793-795)aAa>aTa	p.K265I	AGL_ENST00000361915.3_Missense_Mutation_p.K265I|AGL_ENST00000370163.3_Missense_Mutation_p.K265I|AGL_ENST00000370165.3_Missense_Mutation_p.K265I|AGL_ENST00000370161.2_Missense_Mutation_p.K249I|AGL_ENST00000361522.4_Missense_Mutation_p.K248I|AGL_ENST00000361302.3_Missense_Mutation_p.K249I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	265					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.K265I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCAGAAGGGAAATACAAAGAA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											102.0	102.0	102.0					1																	100336085		2203	4300	6503	SO:0001583	missense	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.794A>T	1.37:g.100336085A>T	ENSP00000294724:p.Lys265Ile		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	a	13.59	2.281263	0.40394	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.37	4.25	0.50352	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.169474	0.49305	D	0.000147	T	0.67543	0.2904	M	0.77103	2.36	0.36152	D	0.847539	B;B;B	0.33022	0.394;0.156;0.274	B;B;B	0.41619	0.361;0.185;0.197	T	0.68977	-0.5267	10	0.45353	T	0.12	.	10.1039	0.42521	0.8588:0.0:0.1412:0.0	.	248;249;265	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	I	265;265;265;265;249;249;248	ENSP00000355106:K265I;ENSP00000359184:K265I;ENSP00000359182:K265I;ENSP00000294724:K265I;ENSP00000354971:K249I;ENSP00000359180:K249I;ENSP00000354635:K248I	ENSP00000294724:K265I	K	+	2	0	AGL	100108673	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.912000	0.48782	0.982000	0.38575	0.477000	0.44152	AAA		0.383	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1		NM_000028	
ALK	238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	29420425	29420425	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr2:29420425C>G	ENST00000389048.3	-	27	4962	c.4056G>C	c.(4054-4056)aaG>aaC	p.K1352N	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1352	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K1352N(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CAGGGCAGTTCTTGGGTGGGT	0.443			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	1	Substitution - Missense(1)	kidney(1)											79.0	82.0	81.0					2																	29420425		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4056G>C	2.37:g.29420425C>G	ENSP00000373700:p.Lys1352Asn		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680866	0.68042	.	.	ENSG00000171094	ENST00000389048	D	0.83075	-1.68	5.8	4.82	0.62117	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	U	0.000146	D	0.82527	0.5056	L	0.39397	1.21	0.80722	D	1	P	0.49862	0.929	P	0.58780	0.845	T	0.79815	-0.1644	9	.	.	.	.	6.9993	0.24801	0.0:0.8076:0.0:0.1924	.	1352	Q9UM73	ALK_HUMAN	N	1352	ENSP00000373700:K1352N	.	K	-	3	2	ALK	29273929	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.107000	0.41844	2.729000	0.93468	0.561000	0.74099	AAG		0.443	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1		NM_004304	
ANKS1B	56899	broad.mit.edu;hgsc.bcm.edu	37	12	100378000	100378000	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr12:100378000C>G	ENST00000547776.2	-	1	15	c.16G>C	c.(16-18)Gag>Cag	p.E6Q	ANKS1B_ENST00000547010.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.E6Q	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	6						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.E6Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCCAGCAGCTCCTGGTCCTTC	0.647																																																	1	Substitution - Missense(1)	kidney(1)											48.0	54.0	52.0					12																	100378000		1929	4122	6051	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.16G>C	12.37:g.100378000C>G	ENSP00000449629:p.Glu6Gln		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970672	0.74246	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.49720	0.79;0.79;0.77	4.71	4.71	0.59529	Ankyrin repeat-containing domain (2);	0.000000	0.46442	D	0.000299	T	0.44787	0.1310	N	0.03948	-0.315	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.52434	-0.8576	9	.	.	.	-7.0512	15.815	0.78592	0.0:1.0:0.0:0.0	.	6;6	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	Q	6	ENSP00000449629:E6Q;ENSP00000331381:E6Q;ENSP00000449894:E6Q	.	E	-	1	0	ANKS1B	98902131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.975000	0.76128	2.161000	0.67846	0.462000	0.41574	GAG		0.647	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3		NM_020140	
ATAD5	79915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	29220506	29220506	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:29220506T>A	ENST00000321990.4	+	21	5013	c.4635T>A	c.(4633-4635)aaT>aaA	p.N1545K		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1545					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.N1545K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAAGTATGAATTGTCTTGCTA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											51.0	59.0	56.0					17																	29220506		2201	4299	6500	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4635T>A	17.37:g.29220506T>A	ENSP00000313171:p.Asn1545Lys		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.952386	0.00470	.	.	ENSG00000176208	ENST00000321990	T	0.05717	3.4	6.08	-5.9	0.02275	.	1.067310	0.07098	N	0.839895	T	0.01254	0.0041	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43196	-0.9406	10	0.02654	T	1	.	1.0534	0.01585	0.4487:0.1619:0.1393:0.2501	.	1545	Q96QE3	ATAD5_HUMAN	K	1545	ENSP00000313171:N1545K	ENSP00000313171:N1545K	N	+	3	2	ATAD5	26244632	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.101000	0.15251	-0.686000	0.05170	-1.616000	0.00795	AAT		0.353	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2		NM_024857	
AZI2	64343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	28368357	28368357	+	Silent	SNP	T	T	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr3:28368357T>C	ENST00000479665.1	-	7	1263	c.732A>G	c.(730-732)ctA>ctG	p.L244L	AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	244	Interaction with TBK1 and IKBKE.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)		p.L244L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TCAGTTTTCTTAGTAGTTCAG	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											259.0	237.0	244.0					3																	28368357		2203	4300	6503	SO:0001819	synonymous_variant	64343			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.732A>G	3.37:g.28368357T>C			A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Silent	SNP	ENST00000479665.1	37	CCDS2647.1	.	.	.	.	.	.	.	.	.	.	T	9.916	1.210819	0.22289	.	.	ENSG00000163512	ENST00000429369	.	.	.	5.83	-3.74	0.04385	.	.	.	.	.	T	0.48352	0.1495	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45131	-0.9282	4	.	.	.	-12.083	6.2402	0.20787	0.0:0.2143:0.3422:0.4435	.	.	.	.	E	42	.	.	K	-	1	0	AZI2	28343361	0.514000	0.26202	0.981000	0.43875	0.986000	0.74619	-0.561000	0.05957	-0.486000	0.06744	0.528000	0.53228	AAG		0.388	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2		NM_203326	
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32640925	32640925	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr2:32640925A>G	ENST00000421745.2	+	10	2700	c.2566A>G	c.(2566-2568)Att>Gtt	p.I856V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	856					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.I828V(1)|p.I856V(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAGGACACAATTACCTCGCT	0.383																																					Pancreas(94;175 1509 16028 18060 45422)												2	Substitution - Missense(2)	kidney(2)											67.0	59.0	62.0					2																	32640925		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2566A>G	2.37:g.32640925A>G	ENSP00000393596:p.Ile856Val		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	11.24	1.579880	0.28180	.	.	ENSG00000115760	ENST00000421745	T	0.74315	-0.83	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.59770	0.2218	N	0.14661	0.345	0.44825	D	0.997835	B	0.09022	0.002	B	0.08055	0.003	T	0.54906	-0.8223	10	0.29301	T	0.29	.	15.8741	0.79148	1.0:0.0:0.0:0.0	.	856	Q9NR09	BIRC6_HUMAN	V	856	ENSP00000393596:I856V	ENSP00000393596:I856V	I	+	1	0	BIRC6	32494429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.757000	0.68766	2.154000	0.67381	0.533000	0.62120	ATT		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252	
BRMS1L	84312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	36304068	36304068	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr14:36304068G>T	ENST00000216807.7	+	4	579	c.380G>T	c.(379-381)tGc>tTc	p.C127F	BRMS1L_ENST00000543183.1_Missense_Mutation_p.C79F	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	127					regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.C127F(1)|p.C127Y(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AGAGAGCTCTGCTTAGAATCT	0.363																																																	2	Substitution - Missense(2)	endometrium(1)|kidney(1)											109.0	115.0	113.0					14																	36304068		2203	4300	6503	SO:0001583	missense	84312			AK096496	CCDS32066.1	14q13.1	2005-09-22	2003-12-02	2003-12-03		ENSG00000100916			20512	protein-coding gene	gene with protein product			"""breast cancer metastasis-suppressor 1"""	BRMS1			Standard	XM_005268128		Approved	MGC11296, FLJ39177	uc001wtl.3	Q5PSV4		ENST00000216807.7:c.380G>T	14.37:g.36304068G>T	ENSP00000216807:p.Cys127Phe		A6NFW5|A6NH45|B2RD65|Q9BRI4	Missense_Mutation	SNP	ENST00000216807.7	37	CCDS32066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.433482|4.433482	0.83776|0.83776	.|.	.|.	ENSG00000100916|ENSG00000100916	ENST00000551774|ENST00000216807;ENST00000543183	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79736|0.79736	0.4497|0.4497	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.83275	.|0.996	T|T	0.78768|0.78768	-0.2075|-0.2075	5|9	.|0.62326	.|D	.|0.03	-7.0101|-7.0101	20.6397|20.6397	0.99537|0.99537	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|127	.|Q5PSV4	.|BRM1L_HUMAN	S|F	42|127;79	.|.	.|ENSP00000216807:C127F	A|C	+|+	1|2	0|0	BRMS1L|BRMS1L	35373819|35373819	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.198000|9.198000	0.94994|0.94994	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GCT|TGC		0.363	BRMS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409601.2		NM_032352	
C11orf24	53838	broad.mit.edu;ucsc.edu	37	11	68031203	68031203	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:68031203G>T	ENST00000304271.6	-	3	435	c.33C>A	c.(31-33)ttC>ttA	p.F11L	C11orf24_ENST00000530166.1_Intron|C11orf24_ENST00000533310.1_Missense_Mutation_p.F11L	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	11						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F11L(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						AGGACAAGGAGAAAATCCAAA	0.577																																					NSCLC(21;855 905 4198 36694)												1	Substitution - Missense(1)	kidney(1)											70.0	63.0	65.0					11																	68031203		2200	4294	6494	SO:0001583	missense	53838			AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.33C>A	11.37:g.68031203G>T	ENSP00000307264:p.Phe11Leu		Q9H2K4	Missense_Mutation	SNP	ENST00000304271.6	37	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962464	0.34659	.	.	ENSG00000171067	ENST00000304271;ENST00000533310;ENST00000527280	T	0.32023	1.47	4.68	-0.355	0.12587	.	0.859443	0.09497	U	0.794142	T	0.16128	0.0388	N	0.22421	0.69	0.09310	N	1	B;B	0.32365	0.367;0.367	B;B	0.28385	0.089;0.075	T	0.27468	-1.0073	10	0.13470	T	0.59	-1.6208	7.7814	0.29066	0.5423:0.0:0.4577:0.0	.	11;11	E9PRU5;Q96F05	.;CK024_HUMAN	L	11	ENSP00000307264:F11L	ENSP00000307264:F11L	F	-	3	2	C11orf24	67787779	0.319000	0.24607	0.001000	0.08648	0.557000	0.35523	0.158000	0.16422	0.032000	0.15435	-1.477000	0.00996	TTC		0.577	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1		NM_022338	
C3orf67	200844	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	58899557	58899557	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr3:58899557T>A	ENST00000482387.1	-	2	148	c.52A>T	c.(52-54)Acc>Tcc	p.T18S	RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.T18S|C3orf67_ENST00000491845.1_Missense_Mutation_p.T18S|C3orf67_ENST00000472469.1_Intron|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	18								p.T18S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ATTTCACTGGTGAATGCTACT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											105.0	98.0	100.0					3																	58899557		2203	4300	6503	SO:0001583	missense	200844			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.52A>T	3.37:g.58899557T>A	ENSP00000417122:p.Thr18Ser		B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37		.	.	.	.	.	.	.	.	.	.	T	25.2	4.615828	0.87359	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000491845;ENST00000471288	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	L	0.57536	1.79	0.53005	D	0.999969	D	0.89917	1.0	D	0.85130	0.997	T	0.68296	-0.5446	9	.	.	.	-12.5576	15.7319	0.77814	0.0:0.0:0.0:1.0	.	18	Q6ZVT6-2	.	S	18;18;18;143	ENSP00000295966:T18S;ENSP00000417122:T18S;ENSP00000418832:T18S;ENSP00000417639:T143S	.	T	-	1	0	C3orf67	58874597	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.988000	0.63863	2.118000	0.64928	0.528000	0.53228	ACC		0.383	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1		NM_198463	
C4BPA	722	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	207300079	207300079	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:207300079A>C	ENST00000367070.3	+	7	922	c.728A>C	c.(727-729)gAt>gCt	p.D243A		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	243	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.D243A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CGCAAGCCAGATGTTTCACAT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											122.0	119.0	120.0					1																	207300079		2203	4300	6503	SO:0001583	missense	722			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.728A>C	1.37:g.207300079A>C	ENSP00000356037:p.Asp243Ala		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	A	8.887	0.952951	0.18431	.	.	ENSG00000123838	ENST00000367070	T	0.66638	-0.22	5.66	-2.16	0.07080	Complement control module (2);Sushi/SCR/CCP (3);	3.094740	0.00669	N	0.000627	T	0.47040	0.1424	N	0.21240	0.645	0.09310	N	1	B	0.31256	0.316	B	0.33568	0.166	T	0.18493	-1.0335	10	0.09843	T	0.71	.	2.1997	0.03920	0.3428:0.1309:0.0759:0.4503	.	243	P04003	C4BPA_HUMAN	A	243	ENSP00000356037:D243A	ENSP00000356037:D243A	D	+	2	0	C4BPA	205366702	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.295000	0.08298	-0.660000	0.05352	0.524000	0.50904	GAT		0.383	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			
CACNA1C	775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	2566764	2566764	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr12:2566764A>T	ENST00000347598.4	+	5	649	c.649A>T	c.(649-651)Aaa>Taa	p.K217*	CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399655.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.K217*	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	217					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.K217*(3)|p.K247*(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACAAGCAACCAAAGCAGATGG	0.567																																																	4	Substitution - Nonsense(4)	kidney(4)											106.0	116.0	113.0					12																	2566764		1944	4139	6083	SO:0001587	stop_gained	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.649A>T	12.37:g.2566764A>T	ENSP00000266376:p.Lys217*		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Nonsense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	37	6.067404	0.97251	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	4.15	4.15	0.48705	.	0.266895	0.35772	N	0.002982	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3821	0.60773	1.0:0.0:0.0:0.0	.	.	.	.	X	217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;58	.	ENSP00000323129:K58X	K	+	1	0	CACNA1C	2437025	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.728000	0.68531	1.739000	0.51704	0.460000	0.39030	AAA		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719	
CEACAM5	1048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42219626	42219626	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr19:42219626A>T	ENST00000221992.6	+	4	875	c.761A>T	c.(760-762)aAt>aTt	p.N254I	CEACAM5_ENST00000398599.4_Missense_Mutation_p.N254I|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.N254I	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	254	Ig-like 3.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.N254I(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCAGGGGAAAATCTGAACCTC	0.507																																																	1	Substitution - Missense(1)	kidney(1)											91.0	88.0	89.0					19																	42219626		2203	4300	6503	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.761A>T	19.37:g.42219626A>T	ENSP00000221992:p.Asn254Ile		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.45|10.45	1.353483|1.353483	0.24512|0.24512	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816	.|T;T	.|0.14391	.|2.51;2.51	3.19|3.19	2.04|2.04	0.26737|0.26737	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.43322|0.43322	0.1242|0.1242	M|M	0.94142|0.94142	3.5|3.5	0.09310|0.09310	N|N	1|1	.|D;D	.|0.65815	.|0.987;0.995	.|P;D	.|0.79108	.|0.901;0.992	T|T	0.16247|0.16247	-1.0409|-1.0409	5|9	.|0.66056	.|D	.|0.02	.|.	6.5795|6.5795	0.22585|0.22585	0.758:0.242:0.0:0.0|0.758:0.242:0.0:0.0	.|.	.|254;254	.|P06731;Q53G30	.|CEAM5_HUMAN;.	N|I	250|254	.|ENSP00000221992:N254I;ENSP00000385072:N254I	.|ENSP00000221992:N254I	K|N	+|+	3|2	2|0	CEACAM5|CEACAM5	46911466|46911466	0.000000|0.000000	0.05858|0.05858	0.162000|0.162000	0.22713|0.22713	0.316000|0.316000	0.28119|0.28119	-0.347000|-0.347000	0.07750|0.07750	1.239000|1.239000	0.43787|0.43787	0.260000|0.260000	0.18958|0.18958	AAA|AAT		0.507	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2		NM_004363	
CHD1	1105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	98204294	98204294	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr5:98204294A>C	ENST00000284049.3	-	30	4302	c.4153T>G	c.(4153-4155)Tca>Gca	p.S1385A	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1385					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.S1385A(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCTGACACTGAAGATTTCTTG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											139.0	137.0	138.0					5																	98204294		2203	4300	6503	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4153T>G	5.37:g.98204294A>C	ENSP00000284049:p.Ser1385Ala		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	A	3.003	-0.205662	0.06180	.	.	ENSG00000153922	ENST00000284049	D	0.89746	-2.56	5.32	-4.34	0.03666	.	1.079210	0.07499	U	0.906980	T	0.75087	0.3802	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60306	-0.7289	10	0.10377	T	0.69	.	5.3644	0.16105	0.1539:0.5514:0.0855:0.2092	.	1385	O14646	CHD1_HUMAN	A	1385	ENSP00000284049:S1385A	ENSP00000284049:S1385A	S	-	1	0	CHD1	98232194	0.000000	0.05858	0.019000	0.16419	0.086000	0.17979	0.160000	0.16462	-0.210000	0.10140	-0.316000	0.08728	TCA		0.398	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1		NM_001270	
CIB3	117286	broad.mit.edu	37	19	16279070	16279070	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr19:16279070G>T	ENST00000269878.4	-	4	273	c.224C>A	c.(223-225)gCc>gAc	p.A75D	CIB3_ENST00000379859.3_Missense_Mutation_p.A26D|CIB3_ENST00000541493.1_Intron	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	75	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.A75D(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GAATACCTGGGCAATCCTCTG	0.562																																																	1	Substitution - Missense(1)	kidney(1)											60.0	53.0	55.0					19																	16279070		2203	4300	6503	SO:0001583	missense	117286			AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.224C>A	19.37:g.16279070G>T	ENSP00000269878:p.Ala75Asp		E7EUX1|Q2M1W0|Q6ISP1	Missense_Mutation	SNP	ENST00000269878.4	37	CCDS12340.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330782	0.24167	.	.	ENSG00000141977	ENST00000269878;ENST00000379859	T;T	0.67523	-0.27;2.95	4.84	2.71	0.32032	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	L	0.40543	1.245	0.80722	D	1	B;B	0.26744	0.158;0.158	B;B	0.27262	0.078;0.048	T	0.54248	-0.8322	10	0.72032	D	0.01	-21.2938	9.9668	0.41730	0.1643:0.0:0.8357:0.0	.	26;75	E7EUX1;Q96Q77	.;CIB3_HUMAN	D	75;26	ENSP00000269878:A75D;ENSP00000369188:A26D	ENSP00000269878:A75D	A	-	2	0	CIB3	16140070	1.000000	0.71417	0.897000	0.35233	0.093000	0.18481	2.805000	0.47939	0.481000	0.27557	0.448000	0.29417	GCC		0.562	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1		NM_054113	
COL24A1	255631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	86591208	86591208	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:86591208G>A	ENST00000370571.2	-	3	1177	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P271S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	271					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.P271S(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AATAGTTTGGGCGGGGGAGAG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											100.0	97.0	98.0					1																	86591208		1904	4115	6019	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.811C>T	1.37:g.86591208G>A	ENSP00000359603:p.Pro271Ser		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.199569	0.01581	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.15139	2.45;2.45	5.69	1.45	0.22620	.	0.206931	0.24530	N	0.037732	T	0.02012	0.0063	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.08055	0.003;0.002	T	0.41928	-0.9481	10	0.27785	T	0.31	.	1.0831	0.01647	0.2371:0.1256:0.4159:0.2214	.	271;271	F8WDM8;Q17RW2	.;COOA1_HUMAN	S	271	ENSP00000359603:P271S;ENSP00000392531:P271S	ENSP00000359603:P271S	P	-	1	0	COL24A1	86363796	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	0.417000	0.21214	0.759000	0.33084	0.563000	0.77884	CCC		0.398	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4		NM_152890	
CUL9	23113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43153719	43153719	+	Silent	SNP	G	G	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr6:43153719G>A	ENST00000252050.4	+	4	861	c.777G>A	c.(775-777)ttG>ttA	p.L259L	CUL9_ENST00000354495.3_Silent_p.L259L|CUL9_ENST00000372647.2_Silent_p.L259L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	259					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.L259L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTTTCTCCTTGGTGAAGCGCT	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											60.0	58.0	59.0					6																	43153719		2203	4300	6503	SO:0001819	synonymous_variant	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.777G>A	6.37:g.43153719G>A			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																				0.532	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089	
DCAF6	55827	broad.mit.edu;hgsc.bcm.edu	37	1	167974003	167974003	+	Silent	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:167974003A>G	ENST00000312263.6	+	10	1554	c.1350A>G	c.(1348-1350)gcA>gcG	p.A450A	DCAF6_ENST00000367843.3_Silent_p.A450A|DCAF6_ENST00000432587.2_Silent_p.A419A|DCAF6_ENST00000367840.3_Silent_p.A450A	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	450					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.A450A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTGTTGAGGCATCTGGACACC	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											92.0	88.0	90.0					1																	167974003		2203	4299	6502	SO:0001819	synonymous_variant	55827			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1350A>G	1.37:g.167974003A>G			A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	CCDS30933.1																																																																																				0.423	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2		NM_018442	
DCT	1638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95114377	95114377	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr13:95114377A>C	ENST00000377028.5	-	5	1343	c.930T>G	c.(928-930)aaT>aaG	p.N310K	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.N310K	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	310					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.N310K(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TTCCCATTTGATTTCTTCTCA	0.383																																																	2	Substitution - Missense(2)	kidney(2)											135.0	115.0	122.0					13																	95114377		2203	4300	6503	SO:0001583	missense	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.930T>G	13.37:g.95114377A>C	ENSP00000366227:p.Asn310Lys		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	a	14.94	2.683988	0.47991	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99051	-5.37;-5.37	5.52	1.52	0.23074	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.302779	0.37393	N	0.002103	D	0.97986	0.9337	M	0.73430	2.235	0.18873	N	0.999982	P;P	0.47762	0.9;0.515	P;B	0.47299	0.543;0.335	D	0.95028	0.8166	10	0.72032	D	0.01	-15.7498	6.8732	0.24133	0.3849:0.1593:0.4559:0.0	.	310;310	Q09GT4;P40126	.;TYRP2_HUMAN	K	310	ENSP00000366227:N310K;ENSP00000392762:N310K	ENSP00000366227:N310K	N	-	3	2	DCT	93912378	0.415000	0.25416	0.943000	0.38184	0.915000	0.54546	0.070000	0.14573	0.030000	0.15379	0.454000	0.30748	AAT		0.383	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			
DHTKD1	55526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12142206	12142206	+	Silent	SNP	C	C	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr10:12142206C>A	ENST00000263035.4	+	9	1763	c.1701C>A	c.(1699-1701)atC>atA	p.I567I		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	567					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.I567I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGGACGGAATCAAGCTAGACT	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											139.0	154.0	149.0					10																	12142206		2203	4300	6503	SO:0001819	synonymous_variant	55526			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1701C>A	10.37:g.12142206C>A			Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	0.963	-0.702716	0.03255	.	.	ENSG00000181192	ENST00000448829	.	.	.	5.39	-5.76	0.02376	.	.	.	.	.	T	0.50205	0.1602	.	.	.	0.50171	D	0.999858	.	.	.	.	.	.	T	0.52419	-0.8578	4	.	.	.	-0.6513	8.4945	0.33119	0.3276:0.4146:0.2578:0.0	.	.	.	.	K	119	.	.	Q	+	1	0	DHTKD1	12182212	0.013000	0.17824	0.623000	0.29173	0.085000	0.17905	-0.525000	0.06214	-0.964000	0.03595	-0.516000	0.04426	CAA		0.373	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1		NM_018706	
DNAH17	8632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76475699	76475699	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:76475699A>T	ENST00000585328.1	-	50	7877	c.7753T>A	c.(7753-7755)Ttt>Att	p.F2585I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.F2576I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2576	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F2585I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCACAGCAAACACGCAGAAA	0.622																																																	1	Substitution - Missense(1)	kidney(1)											111.0	115.0	114.0					17																	76475699		2049	4200	6249	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7753T>A	17.37:g.76475699A>T	ENSP00000465516:p.Phe2585Ile		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	A	27.7	4.858636	0.91433	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.48522	0.81	4.5	4.5	0.54988	.	.	.	.	.	T	0.56963	0.2021	L	0.60067	1.865	0.41506	D	0.98831	.	.	.	.	.	.	T	0.59542	-0.7435	7	0.49607	T	0.09	.	13.0822	0.59119	1.0:0.0:0.0:0.0	.	.	.	.	I	2585;2576	ENSP00000374490:F2576I	ENSP00000300671:F2585I	F	-	1	0	DNAH17	73987294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.773000	0.68898	1.924000	0.55735	0.519000	0.50382	TTT		0.622	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628	
DPAGT1	1798	hgsc.bcm.edu	37	11	118972218	118972219	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:118972218_118972219insG	ENST00000409993.2	-	3	1698_1699	c.147_148insC	c.(145-150)accagcfs	p.S50fs	DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Frame_Shift_Ins_p.S50fs|DPAGT1_ENST00000432443.2_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	50					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TGCTGTCGGCTGGTTTTGTTGA	0.649											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	1798			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.148dupC	11.37:g.118972220_118972220dupG	ENSP00000386597:p.Ser50fs	1492	O15216|Q86WV9|Q9BWE6	Frame_Shift_Ins	INS	ENST00000409993.2	37	CCDS8411.1																																																																																				0.649	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2		NM_001382	
ELMO3	79767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67236114	67236114	+	Silent	SNP	C	C	T	rs368149935		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr16:67236114C>T	ENST00000360833.1	+	12	1353	c.1296C>T	c.(1294-1296)caC>caT	p.H432H	ELMO3_ENST00000477898.1_Silent_p.H283H|ELMO3_ENST00000393997.2_Silent_p.H449H|MIR328_ENST00000385213.1_RNA			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	396	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.H449H(1)		cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGGACAAGCACGAGTGCCCCT	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		16381	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						C		0,4394		0,0,2197	109.0	125.0	119.0		1347	-8.5	0.5	16		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ELMO3	NM_024712.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		449/774	67236114	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	79767				CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1296C>T	16.37:g.67236114C>T			B4DV86|Q9H8A5	Silent	SNP	ENST00000360833.1	37																																																																																					0.642	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2		NM_024712	
EPHB6	2051	hgsc.bcm.edu	37	7	142562451	142562452	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr7:142562451_142562452insC	ENST00000392957.2	+	7	1680_1681	c.893_894insC	c.(892-897)ggctgcfs	p.C299fs	EPHB6_ENST00000411471.2_Frame_Shift_Ins_p.C22fs|EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.C299fs	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	299	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCTGTCGGGGGCTGCCGCTGCC	0.668																																																	0																																										SO:0001589	frameshift_variant	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.894dupC	7.37:g.142562452_142562452dupC	ENSP00000376684:p.Cys299fs		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Ins	INS	ENST00000392957.2	37	CCDS5873.2																																																																																				0.668	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			
EZH2	2146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148544374	148544374	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr7:148544374T>A	ENST00000460911.1	-	2	105	c.17A>T	c.(16-18)aAg>aTg	p.K6M	EZH2_ENST00000483967.1_Missense_Mutation_p.K6M|EZH2_ENST00000478654.1_Missense_Mutation_p.K6M|EZH2_ENST00000476773.1_Missense_Mutation_p.K6M|EZH2_ENST00000320356.2_Missense_Mutation_p.K6M|EZH2_ENST00000536783.1_De_novo_Start_OutOfFrame|EZH2_ENST00000541220.1_Missense_Mutation_p.K6M|EZH2_ENST00000350995.2_Missense_Mutation_p.K6M			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	6	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.K6M(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CTCAGATTTCTTCCCAGTCTG	0.423			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	2	Substitution - Missense(2)	kidney(2)											194.0	195.0	194.0					7																	148544374		2203	4300	6503	SO:0001583	missense	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.17A>T	7.37:g.148544374T>A	ENSP00000419711:p.Lys6Met		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354216	0.82243	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.94966	-3.49;-3.52;-3.52;-3.57;-3.49;-3.49;-3.51	5.94	5.94	0.96194	.	0.046684	0.85682	D	0.000000	D	0.92338	0.7569	N	0.02916	-0.46	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.964;0.99;0.998;0.994;0.998	D;P;P;P;P;D	0.65443	0.935;0.8;0.847;0.907;0.847;0.922	D	0.94917	0.8070	10	0.62326	D	0.03	.	16.4075	0.83691	0.0:0.0:0.0:1.0	.	6;6;6;6;6;6	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	M	6	ENSP00000417062:K6M;ENSP00000320147:K6M;ENSP00000419711:K6M;ENSP00000223193:K6M;ENSP00000443219:K6M;ENSP00000419050:K6M;ENSP00000419856:K6M	ENSP00000320147:K6M	K	-	2	0	EZH2	148175307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.280000	0.51677	2.275000	0.75901	0.528000	0.53228	AAG		0.423	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1		NM_004456	
OTULIN	90268	hgsc.bcm.edu;ucsc.edu	37	5	14673798	14673798	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr5:14673798delA	ENST00000284274.4	+	2	278	c.200delA	c.(199-201)gaafs	p.E67fs		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		67					canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AAGGAGAAAGAATTGCTTATA	0.348																																																	0													182.0	175.0	177.0					5																	14673798		1859	4102	5961	SO:0001589	frameshift_variant	90268																														ENST00000284274.4:c.200delA	5.37:g.14673798delA	ENSP00000284274:p.Glu67fs		D3DTD3|Q8NAS0|Q96IA3	Frame_Shift_Del	DEL	ENST00000284274.4	37	CCDS43302.1																																																																																				0.348	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			
FAM13C	220965	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61083812	61083812	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr10:61083812G>C	ENST00000373868.2	-	4	466	c.379C>G	c.(379-381)Cca>Gca	p.P127A	FAM13C_ENST00000277705.6_Missense_Mutation_p.P127A|FAM13C_ENST00000468840.2_Missense_Mutation_p.P44A|FAM13C_ENST00000435852.2_Missense_Mutation_p.P127A|FAM13C_ENST00000422313.2_Missense_Mutation_p.P127A|FAM13C_ENST00000442566.3_Missense_Mutation_p.P127A|FAM13C_ENST00000373867.3_Missense_Mutation_p.P44A|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000419214.2_Missense_Mutation_p.P127A	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	127								p.P127A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCATGAGCTGGTGTTCCTGCT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											399.0	345.0	363.0					10																	61083812		2203	4300	6503	SO:0001583	missense	220965			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.379C>G	10.37:g.61083812G>C	ENSP00000362975:p.Pro127Ala		B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513029	0.27123	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T	0.51574	0.86;0.7;0.76;0.81;0.84;0.85	6.16	5.26	0.73747	.	0.302490	0.28284	N	0.015920	T	0.50394	0.1613	L	0.60455	1.87	0.09310	N	1	P;B;P;P;P	0.49559	0.837;0.231;0.837;0.925;0.668	B;B;B;P;B	0.47162	0.373;0.117;0.373;0.54;0.176	T	0.51996	-0.8634	10	0.72032	D	0.01	-1.7422	11.387	0.49791	0.0824:0.0:0.9176:0.0	.	127;44;127;127;127	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	A	44;127;127;127;127;44;127;127	ENSP00000362975:P127A;ENSP00000395661:P127A;ENSP00000277705:P127A;ENSP00000391993:P127A;ENSP00000392302:P127A;ENSP00000400241:P127A	ENSP00000277705:P127A	P	-	1	0	FAM13C	60753818	0.411000	0.25384	0.046000	0.18839	0.346000	0.29079	1.679000	0.37597	1.612000	0.50221	0.650000	0.86243	CCA		0.478	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92531125	92531125	+	Missense_Mutation	SNP	C	C	T	rs375193261		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:92531125C>T	ENST00000298047.6	+	9	4963	c.4946C>T	c.(4945-4947)cCg>cTg	p.P1649L	FAT3_ENST00000525166.1_Missense_Mutation_p.P1499L|FAT3_ENST00000409404.2_Missense_Mutation_p.P1649L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1649	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1649L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGGGATCCCCGCCAATGTCT	0.468										TCGA Ovarian(4;0.039)																																							2	Substitution - Missense(2)	kidney(2)											98.0	97.0	97.0					11																	92531125		1990	4172	6162	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4946C>T	11.37:g.92531125C>T	ENSP00000298047:p.Pro1649Leu		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	18.87	3.716189	0.68844	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.57436	0.4;0.4;0.4	6.02	6.02	0.97574	.	.	.	.	.	T	0.79149	0.4397	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80977	-0.1141	9	0.66056	D	0.02	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	1649	Q8TDW7-3	.	L	1649;1649;1499	ENSP00000298047:P1649L;ENSP00000387040:P1649L;ENSP00000432586:P1499L	ENSP00000298047:P1649L	P	+	2	0	FAT3	92170773	1.000000	0.71417	0.900000	0.35374	0.041000	0.13682	7.755000	0.85180	2.865000	0.98341	0.655000	0.94253	CCG		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781	
GHR	2690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	42719044	42719044	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr5:42719044A>C	ENST00000230882.4	+	10	1625	c.1435A>C	c.(1435-1437)Agt>Cgt	p.S479R	GHR_ENST00000537449.1_Missense_Mutation_p.S292R|GHR_ENST00000357703.3_Missense_Mutation_p.S457R	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	479					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.S479R(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGCAATCCAAGTTCACTGTC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											71.0	66.0	67.0					5																	42719044		2203	4300	6503	SO:0001583	missense	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1435A>C	5.37:g.42719044A>C	ENSP00000230882:p.Ser479Arg		Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017879	0.54576	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.35789	1.29;1.29;1.29	5.98	4.8	0.61643	.	0.601756	0.20469	N	0.091733	T	0.55497	0.1924	M	0.85099	2.735	0.24525	N	0.994142	P	0.41947	0.766	P	0.52267	0.694	T	0.51466	-0.8702	10	0.36615	T	0.2	0.0321	12.3254	0.55007	0.9334:0.0:0.0666:0.0	.	479	P10912	GHR_HUMAN	R	479;457;292	ENSP00000230882:S479R;ENSP00000350335:S457R;ENSP00000442206:S292R	ENSP00000230882:S479R	S	+	1	0	GHR	42754801	1.000000	0.71417	0.048000	0.18961	0.879000	0.50718	4.898000	0.63238	1.042000	0.40150	0.482000	0.46254	AGT		0.488	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2		NM_000163	
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127642858	127642858	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr5:127642858G>T	ENST00000508053.1	-	48	6365	c.5391C>A	c.(5389-5391)ttC>ttA	p.F1797L	FBN2_ENST00000262464.4_Missense_Mutation_p.F1797L			P35556	FBN2_HUMAN	fibrillin 2	1797					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.F1797L(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)		TGTCAAAGGTGAATCCAGGAA	0.289																																																	2	Substitution - Missense(2)	kidney(2)											92.0	98.0	96.0					5																	127642858		2203	4296	6499	SO:0001583	missense	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.5391C>A	5.37:g.127642858G>T	ENSP00000424571:p.Phe1797Leu		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928300	0.52759	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92099	-2.97;-2.97	5.17	4.22	0.49857	Matrix fibril-associated (2);	0.100758	0.44483	D	0.000454	D	0.93815	0.8022	L	0.60845	1.875	0.40820	D	0.983497	P	0.52842	0.956	D	0.65010	0.931	D	0.93241	0.6626	10	0.52906	T	0.07	.	11.2504	0.49022	0.1402:0.0:0.8598:0.0	.	1797	P35556	FBN2_HUMAN	L	1797	ENSP00000262464:F1797L;ENSP00000424571:F1797L	ENSP00000262464:F1797L	F	-	3	2	FBN2	127670757	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.403000	0.44530	2.686000	0.91538	0.591000	0.81541	TTC		0.289	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999	
GPR137	56834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64055547	64055547	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:64055547T>C	ENST00000313074.3	+	4	749	c.644T>C	c.(643-645)gTg>gCg	p.V215A	GPR137_ENST00000438980.2_Missense_Mutation_p.V215A|GPR137_ENST00000411458.1_Missense_Mutation_p.V273A|GPR137_ENST00000539851.1_Missense_Mutation_p.V215A|GPR137_ENST00000377702.4_Intron	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	215						integral component of membrane (GO:0016021)		p.V215A(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GGGACCAGTGTGTGCCAGGCG	0.647																																																	2	Substitution - Missense(2)	kidney(2)											46.0	51.0	49.0					11																	64055547		2199	4297	6496	SO:0001583	missense	56834			AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.644T>C	11.37:g.64055547T>C	ENSP00000321698:p.Val215Ala		B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.081680	0.76528	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000539833;ENST00000543383;ENST00000438980;ENST00000313074;ENST00000541952	T;T;T;T;T	0.52754	0.65;0.74;0.73;0.71;0.68	5.18	5.18	0.71444	.	0.073650	0.52532	D	0.000064	T	0.60011	0.2236	L	0.45352	1.415	0.48975	D	0.999737	D;D;D;P;D	0.76494	0.996;0.999;0.996;0.592;0.999	D;D;D;B;D	0.80764	0.978;0.994;0.978;0.175;0.994	T	0.62680	-0.6803	10	0.66056	D	0.02	-16.2352	12.9718	0.58517	0.0:0.0:0.0:1.0	.	215;273;221;215;215	B7Z7M1;B4DTG7;F5H234;Q96N19-2;Q96N19	.;.;.;.;G137A_HUMAN	A	221;273;215;215;215;215;215;152	ENSP00000411827:V273A;ENSP00000442792:V215A;ENSP00000441003:V215A;ENSP00000415698:V215A;ENSP00000321698:V215A	ENSP00000321698:V215A	V	+	2	0	GPR137	63812123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.530000	0.81962	1.960000	0.56953	0.459000	0.35465	GTG		0.647	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1		NM_020155	
GPHA2	170589	hgsc.bcm.edu	37	11	64702280	64702281	+	Frame_Shift_Ins	INS	-	-	G	rs374014484	byFrequency	TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:64702280_64702281insG	ENST00000279168.2	-	4	408_409	c.354_355insC	c.(352-357)gcctgcfs	p.C119fs	GPHA2_ENST00000533257.1_Frame_Shift_Ins_p.C119fs	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2	119						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|prostate(1)	3						TCACACTGGCAGGCCCTGGCCG	0.629																																																	0																																										SO:0001589	frameshift_variant	170589			AF260739	CCDS8086.1	11q13.1	2008-07-18				ENSG00000149735			18054	protein-coding gene	gene with protein product	"""glycoprotein alpha 2"", ""cysteine knot protein"""	609651				11809971	Standard	NM_130769		Approved	GPA2, ZSIG51, A2, MGC126572	uc001oca.3	Q96T91		ENST00000279168.2:c.355dupC	11.37:g.64702282_64702282dupG	ENSP00000279168:p.Cys119fs		Q52LE2	Frame_Shift_Ins	INS	ENST00000279168.2	37	CCDS8086.1																																																																																				0.629	GPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385470.1		NM_130769	
GLB1L2	89944	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	134240284	134240284	+	Silent	SNP	C	C	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:134240284C>T	ENST00000535456.2	+	12	1394	c.1206C>T	c.(1204-1206)taC>taT	p.Y402Y	GLB1L2_ENST00000389881.3_Silent_p.Y402Y|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Silent_p.Y402Y	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	402					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.Y402Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCCTCAAGTACCTGGGGGAGG	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											147.0	121.0	130.0					11																	134240284		2201	4297	6498	SO:0001819	synonymous_variant	89944				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1206C>T	11.37:g.134240284C>T			A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Silent	SNP	ENST00000535456.2	37	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	C	3.934	-0.015666	0.07681	.	.	ENSG00000149328	ENST00000525089	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	T	0.61211	0.2329	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57682	-0.7769	4	.	.	.	-13.5366	10.182	0.42975	0.0:0.9073:0.0:0.0927	.	.	.	.	S	341	.	.	P	+	1	0	GLB1L2	133745494	0.000000	0.05858	0.159000	0.22649	0.532000	0.34746	0.770000	0.26618	2.746000	0.94184	0.643000	0.83706	CCT		0.637	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2		NM_138342	
GPSM3	63940	hgsc.bcm.edu	37	6	32159933	32159934	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr6:32159933_32159934insG	ENST00000375040.3	-	2	528_529	c.136_137insC	c.(136-138)cgcfs	p.R46fs	GPSM3_ENST00000375043.3_Frame_Shift_Ins_p.R46fs|GPSM3_ENST00000487761.1_Frame_Shift_Ins_p.R43fs|PBX2_ENST00000375050.4_5'Flank	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	46					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						ACCTGTGTGGCGGGTCCCTGGA	0.663																																																	0																																										SO:0001589	frameshift_variant	63940			AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"""activator of G-protein signaling 4"""		"""chromosome 6 open reading frame 9"", ""G-protein signalling modulator 3 (AGS3-like, C. elegans)"""	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.137dupC	6.37:g.32159936_32159936dupG	ENSP00000364180:p.Arg46fs		A2BFJ3	Frame_Shift_Ins	INS	ENST00000375040.3	37	CCDS34419.1																																																																																				0.663	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1		NM_022107	
IRF2BP1	26145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46388204	46388204	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr19:46388204C>A	ENST00000302165.3	-	1	1172	c.829G>T	c.(829-831)Gaa>Taa	p.E277*		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)	p.E277*(1)		cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CAGGGGTATTCGGTGAAGAGC	0.617																																																	1	Substitution - Nonsense(1)	kidney(1)											56.0	57.0	56.0					19																	46388204		2203	4300	6503	SO:0001587	stop_gained	26145			AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.829G>T	19.37:g.46388204C>A	ENSP00000307265:p.Glu277*		Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Nonsense_Mutation	SNP	ENST00000302165.3	37	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	C	40	7.967469	0.98585	.	.	ENSG00000170604	ENST00000302165	.	.	.	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0928	0.72207	0.0:1.0:0.0:0.0	.	.	.	.	X	277	.	ENSP00000307265:E277X	E	-	1	0	IRF2BP1	51080044	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	7.198000	0.77823	2.406000	0.81754	0.555000	0.69702	GAA		0.617	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1		NM_015649	
ITK	3702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	156670646	156670646	+	Silent	SNP	C	C	A	rs142689933		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr5:156670646C>A	ENST00000422843.3	+	12	1226	c.1074C>A	c.(1072-1074)atC>atA	p.I358I	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	358					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.I358I(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	AATGGGTGATCGACCCCTCAG	0.493			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - coding silent(1)	kidney(1)											112.0	115.0	114.0					5																	156670646		2203	4300	6503	SO:0001819	synonymous_variant	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1074C>A	5.37:g.156670646C>A			B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	CCDS4336.1																																																																																				0.493	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			
KIF4A	24137	broad.mit.edu;hgsc.bcm.edu	37	X	69595153	69595153	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chrX:69595153G>C	ENST00000374403.3	+	17	1960	c.1878G>C	c.(1876-1878)aaG>aaC	p.K626N	KIF4A_ENST00000374388.3_Missense_Mutation_p.K626N	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	626					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.K626N(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TGAAACTAAAGGAATCCACAG	0.453																																																	1	Substitution - Missense(1)	kidney(1)											104.0	91.0	95.0					X																	69595153		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1878G>C	X.37:g.69595153G>C	ENSP00000363524:p.Lys626Asn		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390641	0.62066	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.17370	2.28;2.28	5.29	-0.449	0.12226	.	0.000000	0.64402	D	0.000011	T	0.32041	0.0816	M	0.69823	2.125	0.51233	D	0.999917	D;P	0.65815	0.995;0.936	P;P	0.61132	0.884;0.773	T	0.08289	-1.0729	10	0.87932	D	0	.	10.6422	0.45600	0.669:0.0:0.331:0.0	.	626;626	O95239;O95239-2	KIF4A_HUMAN;.	N	626	ENSP00000363509:K626N;ENSP00000363524:K626N	ENSP00000363509:K626N	K	+	3	2	KIF4A	69511878	0.998000	0.40836	0.997000	0.53966	0.993000	0.82548	0.603000	0.24149	-0.098000	0.12285	0.600000	0.82982	AAG		0.453	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1		NM_012310	
KIFC2	90990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145697356	145697356	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr8:145697356C>G	ENST00000301332.2	+	13	1789	c.1412C>G	c.(1411-1413)tCc>tGc	p.S471C	KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Missense_Mutation_p.S219C|FOXH1_ENST00000525197.1_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	471	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S471C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCGGTGCTGTCCTGCCTCCGA	0.602																																																	1	Substitution - Missense(1)	kidney(1)											76.0	75.0	75.0					8																	145697356		2203	4300	6503	SO:0001583	missense	90990			AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1412C>G	8.37:g.145697356C>G	ENSP00000301332:p.Ser471Cys		E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402045	0.83120	.	.	ENSG00000167702	ENST00000301332;ENST00000301331	T;T	0.50001	0.76;0.76	4.97	4.97	0.65823	Kinesin, motor domain (4);	0.000000	0.33916	N	0.004428	T	0.67683	0.2919	M	0.73430	2.235	0.50813	D	0.999892	D	0.59767	0.986	D	0.67382	0.951	T	0.71185	-0.4667	10	0.87932	D	0	-24.7398	16.0968	0.81132	0.0:1.0:0.0:0.0	.	471	Q96AC6	KIFC2_HUMAN	C	471;219	ENSP00000301332:S471C;ENSP00000301331:S219C	ENSP00000301331:S219C	S	+	2	0	KIFC2	145668164	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	7.290000	0.78711	2.735000	0.93741	0.591000	0.81541	TCC		0.602	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2		NM_145754	
PPP1R21	129285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	48698316	48698316	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr2:48698316G>A	ENST00000294952.8	+	10	1145	c.988G>A	c.(988-990)Gtg>Atg	p.V330M	PPP1R21_ENST00000281394.4_Missense_Mutation_p.V330M|PPP1R21_ENST00000449090.2_Missense_Mutation_p.V330M	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	330						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.V330M(2)		endometrium(2)|kidney(4)|lung(9)	15						TGAGGATACTGTGACTGTCTT	0.383																																																	2	Substitution - Missense(2)	kidney(2)											98.0	97.0	98.0					2																	48698316		2203	4300	6503	SO:0001583	missense	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.988G>A	2.37:g.48698316G>A	ENSP00000294952:p.Val330Met		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435299	0.83885	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.76572	0.4006	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.998	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.948;0.948	T	0.75227	-0.3392	9	0.48119	T	0.1	-20.9583	19.2914	0.94102	0.0:0.0:1.0:0.0	.	330;330;330;330;330	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	M	330	.	ENSP00000281394:V330M	V	+	1	0	KLRAQ1	48551820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.710000	0.68392	2.793000	0.96121	0.561000	0.74099	GTG		0.383	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4		NM_152994	
KRBA2	124751	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8274814	8274814	+	Silent	SNP	T	T	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:8274814T>G	ENST00000331336.2	-	1	44	c.39A>C	c.(37-39)ccA>ccC	p.P13P	KRBA2_ENST00000396267.1_Intron|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	13					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.P13P(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TCAGCAGGACTGGGGAAGAGA	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											61.0	65.0	64.0					17																	8274814		2203	4300	6503	SO:0001819	synonymous_variant	124751			BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.39A>C	17.37:g.8274814T>G			Q8IYY0	Silent	SNP	ENST00000331336.2	37	CCDS11141.1																																																																																				0.468	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1		NM_213597	
KRT28	162605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38953169	38953169	+	Splice_Site	SNP	G	G	T	rs371042085		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:38953169G>T	ENST00000306658.7	-	5	1042	c.977C>A	c.(976-978)aCg>aAg	p.T326K		NM_181535.3	NP_853513.2			keratin 28									p.T326K(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GTCACCTACCGTGGCCATCAG	0.572																																					Melanoma(19;789 869 15380 26882 39836)												1	Substitution - Missense(1)	kidney(1)											69.0	72.0	71.0					17																	38953169		2203	4300	6503	SO:0001630	splice_region_variant	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.978+1C>A	17.37:g.38953169G>T				Missense_Mutation	SNP	ENST00000306658.7	37	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101062	0.37048	.	.	ENSG00000173908	ENST00000306658	D	0.88586	-2.4	5.45	0.657	0.17850	Filament (1);	0.328129	0.26146	N	0.026078	T	0.80341	0.4605	N	0.21617	0.685	0.38450	D	0.946921	B	0.14805	0.011	B	0.19666	0.026	T	0.71461	-0.4586	10	0.72032	D	0.01	.	10.5488	0.45077	0.2726:0.0:0.7274:0.0	.	326	Q7Z3Y7	K1C28_HUMAN	K	326	ENSP00000305263:T326K	ENSP00000305263:T326K	T	-	2	0	KRT28	36206695	0.854000	0.29725	0.724000	0.30704	0.463000	0.32649	0.573000	0.23699	-0.051000	0.13334	0.591000	0.81541	ACG		0.572	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2		NM_181535	Missense_Mutation
KRTAP4-1	85285	broad.mit.edu;ucsc.edu	37	17	39340703	39340703	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:39340703G>C	ENST00000398472.1	-	1	891	c.404C>G	c.(403-405)aCt>aGt	p.T135S				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	135	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament (GO:0045095)		p.T131S(1)|p.T135S(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCGGCAGCAAGTTGCACGGCA	0.557																																																	2	Substitution - Missense(2)	kidney(2)											98.0	106.0	103.0					17																	39340703		2163	4275	6438	SO:0001583	missense	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.404C>G	17.37:g.39340703G>C	ENSP00000381489:p.Thr135Ser		A8MWS7|Q3SYF2	Missense_Mutation	SNP	ENST00000398472.1	37		.	.	.	.	.	.	.	.	.	.	.	4.924	0.171744	0.09391	.	.	ENSG00000244537;ENSG00000198443;ENSG00000198443	ENST00000458321;ENST00000398472;ENST00000334190	T	0.01192	5.2	5.21	1.8	0.24995	.	.	.	.	.	T	0.00608	0.0020	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.18871	0.023	T	0.45026	-0.9289	8	0.02654	T	1	.	7.6009	0.28075	0.0:0.2984:0.3953:0.3063	.	135	Q9BYQ7	KRA41_HUMAN	S	131;135;116	ENSP00000381489:T135S	ENSP00000335483:T116S	T	-	2	0	KRTAP4-2;KRTAP4-1	36594229	0.161000	0.22892	0.000000	0.03702	0.001000	0.01503	2.013000	0.40942	0.525000	0.28522	-0.182000	0.12963	ACT		0.557	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1		NM_033060	
MEGF10	84466	hgsc.bcm.edu;ucsc.edu	37	5	126754854	126754854	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr5:126754854delA	ENST00000274473.6	+	12	1615	c.1348delA	c.(1348-1350)atafs	p.I450fs	MEGF10_ENST00000418761.2_Frame_Shift_Del_p.I450fs|MEGF10_ENST00000508365.1_Frame_Shift_Del_p.I450fs|MEGF10_ENST00000503335.2_Frame_Shift_Del_p.I450fs	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	450	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AACCTATGGGATAAACTGTTC	0.463																																																	0													250.0	231.0	237.0					5																	126754854		2203	4300	6503	SO:0001589	frameshift_variant	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1348delA	5.37:g.126754854delA	ENSP00000274473:p.Ile450fs		Q68DE5|Q8WUL3	Frame_Shift_Del	DEL	ENST00000274473.6	37	CCDS4142.1																																																																																				0.463	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2		NM_032446	
MEGF10	84466	hgsc.bcm.edu	37	5	126754856	126754856	+	Silent	SNP	A	A	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr5:126754856A>T	ENST00000274473.6	+	12	1617	c.1350A>T	c.(1348-1350)atA>atT	p.I450I	MEGF10_ENST00000418761.2_Silent_p.I450I|MEGF10_ENST00000508365.1_Silent_p.I450I|MEGF10_ENST00000503335.2_Silent_p.I450I	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	450	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CCTATGGGATAAACTGTTCCT	0.458																																																	0													251.0	232.0	238.0					5																	126754856		2203	4300	6503	SO:0001819	synonymous_variant	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1350A>T	5.37:g.126754856A>T			Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	CCDS4142.1																																																																																				0.458	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2		NM_032446	
MGST3	4259	hgsc.bcm.edu	37	1	165624711	165624712	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:165624711_165624712insT	ENST00000367889.3	+	6	869_870	c.429_430insT	c.(430-432)ttgfs	p.L144fs	MGST3_ENST00000367888.4_Intron|MGST3_ENST00000367885.1_Frame_Shift_Ins_p.L158fs|MGST3_ENST00000367884.2_Frame_Shift_Ins_p.L144fs|MGST3_ENST00000367886.2_Frame_Shift_Ins_p.L158fs|MGST3_ENST00000367883.1_Frame_Shift_Ins_p.L158fs	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	144					glutathione derivative biosynthetic process (GO:1901687)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|peroxidase activity (GO:0004601)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	TTAAAAGTGGCTTGGGCAGTGG	0.455																																																	0																																										SO:0001589	frameshift_variant	4259			AF026977	CCDS1249.1	1q23	2012-06-21			ENSG00000143198	ENSG00000143198	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7064	protein-coding gene	gene with protein product	"""microsomal glutathione S-transferase III"", ""microsomal GST-3"", ""microsomal GST-III"""	604564				9278457	Standard	NM_004528		Approved	GST-III	uc001gdf.3	O14880	OTTHUMG00000034627	ENST00000367889.3:c.431dupT	1.37:g.165624713_165624713dupT	ENSP00000356864:p.Leu144fs		B2R592|Q6ICN4	Frame_Shift_Ins	INS	ENST00000367889.3	37	CCDS1249.1																																																																																				0.455	MGST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083797.3		NM_004528	
MTF1	4520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	38300878	38300878	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:38300878G>T	ENST00000373036.4	-	6	1003	c.863C>A	c.(862-864)cCc>cAc	p.P288H		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	288					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P288H(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCAGAAGAAGGGTCTTTCACC	0.363																																																	1	Substitution - Missense(1)	kidney(1)											193.0	174.0	180.0					1																	38300878		2203	4300	6503	SO:0001583	missense	4520			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.863C>A	1.37:g.38300878G>T	ENSP00000362127:p.Pro288His		B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961699	0.92791	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.17528	2.27	5.0	5.0	0.66597	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.89968	3.075	0.80722	D	1	D	0.63046	0.992	P	0.59948	0.866	T	0.61113	-0.7128	10	0.87932	D	0	.	18.3019	0.90167	0.0:0.0:1.0:0.0	.	288	Q14872	MTF1_HUMAN	H	288;156	ENSP00000362127:P288H	ENSP00000362127:P288H	P	-	2	0	MTF1	38073465	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.669000	0.98622	2.316000	0.78162	0.650000	0.86243	CCC		0.363	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2		NM_005955	
MTHFD1	4522	hgsc.bcm.edu	37	14	64891617	64891617	+	Missense_Mutation	SNP	G	G	A	rs556906968		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr14:64891617G>A	ENST00000545908.1	+	9	1220	c.991G>A	c.(991-993)Gta>Ata	p.V331I	MTHFD1_ENST00000216605.8_Missense_Mutation_p.V275I|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	275	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.V275I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	TCCTGGCGGCGTAGGGCCCAT	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15624	0.0		0.0	False		,,,				2504	0.0				Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)												1	Substitution - Missense(1)	kidney(1)											102.0	82.0	89.0					14																	64891617		2203	4300	6503	SO:0001583	missense	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.991G>A	14.37:g.64891617G>A	ENSP00000438588:p.Val331Ile		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		.	.	.	.	.	.	.	.	.	.	G	25.5	4.645876	0.87958	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.89	5.89	0.94794	Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site (1);Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	M	0.83953	2.67	0.80722	D	1	D;D;D	0.67145	0.985;0.988;0.996	P;P;P	0.57244	0.717;0.617;0.816	D	0.83507	0.0078	10	0.87932	D	0	-25.0019	18.5149	0.90933	0.0:0.0:1.0:0.0	.	331;275;275	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	I	331;275;331;255	ENSP00000438588:V331I;ENSP00000450560:V275I;ENSP00000216605:V331I;ENSP00000451309:V255I	ENSP00000216605:V275I	V	+	1	0	MTHFD1	63961370	1.000000	0.71417	0.197000	0.23402	0.356000	0.29392	9.793000	0.99091	2.822000	0.97130	0.650000	0.86243	GTA		0.468	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			
MUC4	4585	broad.mit.edu	37	3	195505859	195505859	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr3:195505859T>C	ENST00000463781.3	-	2	13051	c.12592A>G	c.(12592-12594)Act>Gct	p.T4198A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T4198A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T4198A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGTGTCGGTGACA	0.602																																																	2	Substitution - Missense(2)	endometrium(1)|kidney(1)											19.0	15.0	16.0					3																	195505859		689	1576	2265	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12592A>G	3.37:g.195505859T>C	ENSP00000417498:p.Thr4198Ala		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	1.310	-0.602470	0.03744	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35789	1.42;1.29	.	.	.	.	.	.	.	.	T	0.15739	0.0379	N	0.14661	0.345	0.18873	N	0.999989	B	0.14438	0.01	B	0.15870	0.014	T	0.21827	-1.0234	7	.	.	.	.	4.4479	0.11606	0.0:0.2715:0.0:0.7285	.	4070	E7ESK3	.	A	4198	ENSP00000417498:T4198A;ENSP00000420243:T4198A	.	T	-	1	0	MUC4	196990638	0.000000	0.05858	0.008000	0.14137	0.030000	0.12068	-0.602000	0.05680	-1.729000	0.01364	-1.976000	0.00459	ACT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MYO1E	4643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59464119	59464119	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr15:59464119T>A	ENST00000288235.4	-	22	2856	c.2457A>T	c.(2455-2457)gaA>gaT	p.E819D	MIR2116_ENST00000517221.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	819	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.E819D(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		ACAAGATCCGTTCTATCTCGA	0.532																																																	1	Substitution - Missense(1)	kidney(1)											150.0	132.0	138.0					15																	59464119		2191	4291	6482	SO:0001583	missense	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.2457A>T	15.37:g.59464119T>A	ENSP00000288235:p.Glu819Asp		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	T	7.814	0.716334	0.15306	.	.	ENSG00000157483	ENST00000288235	T	0.36520	1.25	5.05	0.692	0.18050	Myosin tail 2 (1);	0.101584	0.64402	D	0.000003	T	0.22704	0.0548	L	0.45051	1.395	0.48135	D	0.999592	B	0.12013	0.005	B	0.15484	0.013	T	0.06661	-1.0814	10	0.14252	T	0.57	.	5.5277	0.16967	0.0:0.551:0.1412:0.3077	.	819	Q12965	MYO1E_HUMAN	D	819	ENSP00000288235:E819D	ENSP00000288235:E819D	E	-	3	2	MYO1E	57251411	0.457000	0.25752	0.915000	0.36163	0.027000	0.11550	-0.201000	0.09464	0.286000	0.22352	-0.337000	0.08149	GAA		0.532	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1		NM_004998	
NCOA6	23054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33337368	33337368	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr20:33337368T>A	ENST00000374796.2	-	10	5200	c.2630A>T	c.(2629-2631)aAt>aTt	p.N877I	NCOA6_ENST00000359003.2_Missense_Mutation_p.N877I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	877	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)	p.N877I(1)		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						GACATCCTTATTGACTGGGAA	0.448																																																	1	Substitution - Missense(1)	kidney(1)											110.0	101.0	104.0					20																	33337368		2203	4300	6503	SO:0001583	missense	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.2630A>T	20.37:g.33337368T>A	ENSP00000363929:p.Asn877Ile		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.289215	0.59976	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.31247	1.5;1.5	5.99	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	L	0.29908	0.895	0.45354	D	0.99834	P	0.46706	0.883	P	0.44732	0.459	T	0.02087	-1.1216	10	0.87932	D	0	-8.4029	9.2466	0.37529	0.0:0.0639:0.1236:0.8125	.	877	Q14686	NCOA6_HUMAN	I	877	ENSP00000363929:N877I;ENSP00000351894:N877I	ENSP00000351894:N877I	N	-	2	0	NCOA6	32801029	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.140000	0.58031	0.483000	0.27608	-0.274000	0.10170	AAT		0.448	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071	
NCOA6	23054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33337408	33337408	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr20:33337408T>A	ENST00000374796.2	-	10	5160	c.2590A>T	c.(2590-2592)Aat>Tat	p.N864Y	NCOA6_ENST00000359003.2_Missense_Mutation_p.N864Y			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	864	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)	p.N864Y(1)		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						GACATCTGATTTCCATTGGGA	0.502																																																	1	Substitution - Missense(1)	kidney(1)											113.0	107.0	109.0					20																	33337408		2203	4300	6503	SO:0001583	missense	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.2590A>T	20.37:g.33337408T>A	ENSP00000363929:p.Asn864Tyr		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.237206	0.39498	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.25085	1.82;1.82	5.98	5.98	0.97165	.	0.139211	0.49305	D	0.000141	T	0.20210	0.0486	N	0.24115	0.695	0.30174	N	0.801032	P	0.42123	0.771	B	0.39617	0.305	T	0.05750	-1.0866	10	0.30854	T	0.27	-2.6415	16.4781	0.84144	0.0:0.0:0.0:1.0	.	864	Q14686	NCOA6_HUMAN	Y	864	ENSP00000363929:N864Y;ENSP00000351894:N864Y	ENSP00000351894:N864Y	N	-	1	0	NCOA6	32801069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.368000	0.44222	2.288000	0.76882	0.528000	0.53228	AAT		0.502	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071	
NUDT15	55270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	48619890	48619890	+	Silent	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr13:48619890A>G	ENST00000258662.2	+	3	630	c.450A>G	c.(448-450)aaA>aaG	p.K150K		NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	150	Interaction with PCNA.				dGTP catabolic process (GO:0006203)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|metal ion binding (GO:0046872)	p.K150K(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		ATCCATTTAAAGAAGATCTGA	0.433																																																	1	Substitution - coding silent(1)	kidney(1)											97.0	103.0	101.0					13																	48619890		2203	4300	6503	SO:0001819	synonymous_variant	55270				CCDS9407.1	13q14.12	2006-04-12			ENSG00000136159	ENSG00000136159		"""Nudix motif containing"""	23063	protein-coding gene	gene with protein product		615792				12767940	Standard	NM_018283		Approved	MTH2, FLJ10956	uc001vbw.1	Q9NV35	OTTHUMG00000016890	ENST00000258662.2:c.450A>G	13.37:g.48619890A>G			A2RUR6|Q32Q27|Q6P2C9	Silent	SNP	ENST00000258662.2	37	CCDS9407.1																																																																																				0.433	NUDT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044862.3		NM_018283	
OTUD7B	56957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	149920966	149920966	+	Silent	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:149920966A>G	ENST00000369135.4	-	10	1437	c.1143T>C	c.(1141-1143)gaT>gaC	p.D381D		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	381	Catalytic.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.D381D(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TATACTCTGAATCTGTAAGTG	0.453																																																	1	Substitution - coding silent(1)	kidney(1)											62.0	64.0	64.0					1																	149920966		2171	4284	6455	SO:0001819	synonymous_variant	56957			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1143T>C	1.37:g.149920966A>G			B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	ENST00000369135.4	37	CCDS41389.1																																																																																				0.453	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3		NM_020205	
PCDH7	5099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	30725802	30725802	+	Missense_Mutation	SNP	G	G	C	rs375645975		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr4:30725802G>C	ENST00000361762.2	+	1	3766	c.2758G>C	c.(2758-2760)Gaa>Caa	p.E920Q	PCDH7_ENST00000543491.1_Missense_Mutation_p.E920Q	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	920					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E920Q(1)|p.E873Q(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AAAAGATCACGAAGACTTTTT	0.383																																																	2	Substitution - Missense(2)	kidney(2)											81.0	84.0	83.0					4																	30725802		2203	4300	6503	SO:0001583	missense	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2758G>C	4.37:g.30725802G>C	ENSP00000355243:p.Glu920Gln		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.05|16.05	3.013267|3.013267	0.54468|0.54468	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.32988|.	1.43;1.43|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Protocadherin (1);|.	.|.	.|.	.|.	.|.	T|T	0.67776|0.67776	0.2929|0.2929	L|L	0.44542|0.44542	1.39|1.39	0.54753|0.54753	D|D	0.99998|0.99998	D;D;D|.	0.76494|.	0.997;0.998;0.999|.	D;D;D|.	0.75484|.	0.937;0.968;0.986|.	T|T	0.63310|0.63310	-0.6666|-0.6666	9|5	0.48119|.	T|.	0.1|.	.|.	18.8391|18.8391	0.92174|0.92174	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	920;873;920|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	Q|P	920;920;873|609	ENSP00000355243:E920Q;ENSP00000441802:E920Q|.	ENSP00000330302:E873Q|.	E|R	+|+	1|2	0|0	PCDH7|PCDH7	30334900|30334900	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.994000|0.994000	0.84299|0.84299	7.445000|7.445000	0.80570|0.80570	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.383	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1		NM_032457, NM_002589	
PGBD1	84547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28268767	28268767	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr6:28268767A>G	ENST00000405948.2	+	7	1556	c.1136A>G	c.(1135-1137)aAg>aGg	p.K379R	PGBD1_ENST00000259883.3_Missense_Mutation_p.K379R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	379						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K379R(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GCTCAAAAGAAGTTAAAGGTA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											69.0	74.0	72.0					6																	28268767		2203	4300	6503	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1136A>G	6.37:g.28268767A>G	ENSP00000385213:p.Lys379Arg		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	A	6.757	0.508580	0.12883	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01464	4.86;4.86	4.54	1.99	0.26369	.	0.397887	0.18706	N	0.133448	T	0.00328	0.0010	N	0.08118	0	0.24115	N	0.995821	B	0.12013	0.005	B	0.12156	0.007	T	0.41502	-0.9505	10	0.21014	T	0.42	-26.6413	6.1511	0.20313	0.782:0.0:0.218:0.0	.	379	Q96JS3	PGBD1_HUMAN	R	379	ENSP00000385213:K379R;ENSP00000259883:K379R	ENSP00000259883:K379R	K	+	2	0	PGBD1	28376746	0.740000	0.28207	0.280000	0.24747	0.923000	0.55619	0.558000	0.23469	0.307000	0.22880	0.533000	0.62120	AAG		0.438	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			
PIK3CB	5291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	138413736	138413736	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr3:138413736A>G	ENST00000477593.1	-	13	1857	c.1784T>C	c.(1783-1785)cTt>cCt	p.L595P	PIK3CB_ENST00000544716.1_Missense_Mutation_p.L41P|PIK3CB_ENST00000289153.2_Missense_Mutation_p.L595P			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	595	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.L595P(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CCAAATCTGAAGCAGCGCCTG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											44.0	51.0	49.0					3																	138413736		2203	4300	6503	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1784T>C	3.37:g.138413736A>G	ENSP00000418143:p.Leu595Pro		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.6|22.6	4.315788|4.315788	0.81469|0.81469	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000493568|ENST00000477593;ENST00000544716;ENST00000289153	.|T;T;T	.|0.79940	.|-1.32;-1.32;-1.32	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90469|0.90469	0.7015|0.7015	H|H	0.95260|0.95260	3.645|3.645	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.49783	.|0.581;0.886;0.928	.|P;P;P	.|0.51806	.|0.464;0.68;0.638	D|D	0.93094|0.93094	0.6502|0.6502	5|10	.|0.87932	.|D	.|0	-18.2527|-18.2527	16.3483|16.3483	0.83171|0.83171	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|595;182;41	.|P42338;B4DZI3;Q68DL0	.|PK3CB_HUMAN;.;.	L|P	227|595;41;595	.|ENSP00000418143:L595P;ENSP00000438259:L41P;ENSP00000289153:L595P	.|ENSP00000289153:L595P	F|L	-|-	1|2	0|0	PIK3CB|PIK3CB	139896426|139896426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	8.821000|8.821000	0.92009|0.92009	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.473	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			
PRDM4	11108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	108145591	108145591	+	Missense_Mutation	SNP	T	T	A	rs200896903		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr12:108145591T>A	ENST00000228437.5	-	5	1186	c.727A>T	c.(727-729)Aac>Tac	p.N243Y	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	243					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)	p.N243Y(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GCTGCAAGGTTGTTGCTCACA	0.542																																																	1	Substitution - Missense(1)	kidney(1)											119.0	97.0	105.0					12																	108145591		2203	4300	6503	SO:0001583	missense	11108			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.727A>T	12.37:g.108145591T>A	ENSP00000228437:p.Asn243Tyr		Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952809	0.73787	.	.	ENSG00000110851	ENST00000228437	T	0.10860	2.83	6.07	6.07	0.98685	.	0.617332	0.19131	N	0.121939	T	0.09730	0.0239	N	0.14661	0.345	0.38631	D	0.951387	B	0.32693	0.38	B	0.34991	0.193	T	0.26643	-1.0097	10	0.72032	D	0.01	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	243	Q9UKN5	PRDM4_HUMAN	Y	243	ENSP00000228437:N243Y	ENSP00000228437:N243Y	N	-	1	0	PRDM4	106669721	1.000000	0.71417	0.963000	0.40424	0.981000	0.71138	5.045000	0.64220	2.326000	0.78906	0.533000	0.62120	AAC		0.542	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1		NM_012406	
PSEN1	5663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	73685985	73685985	+	Silent	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr14:73685985A>G	ENST00000324501.5	+	12	1664	c.1392A>G	c.(1390-1392)caA>caG	p.Q464Q	PSEN1_ENST00000394164.1_Silent_p.Q460Q|PSEN1_ENST00000406768.1_Silent_p.Q372Q|PSEN1_ENST00000344094.3_3'UTR|PSEN1_ENST00000357710.4_Silent_p.Q460Q|PSEN1_ENST00000557511.1_Silent_p.Q406Q|PSEN1_ENST00000261970.3_Silent_p.Q406Q	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	464	Interaction with MTCH1.				activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)	p.Q464Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CATTCCATCAATTTTATATCT	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											169.0	172.0	171.0					14																	73685985		2203	4300	6503	SO:0001819	synonymous_variant	5663			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.1392A>G	14.37:g.73685985A>G			B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Silent	SNP	ENST00000324501.5	37	CCDS9812.1																																																																																				0.393	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2			
RBFA	79863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	77797401	77797401	+	Silent	SNP	G	G	A	rs142434986		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr18:77797401G>A	ENST00000306735.5	+	3	411	c.273G>A	c.(271-273)gcG>gcA	p.A91A	RP11-795F19.5_ENST00000564012.1_3'UTR|RBFA_ENST00000262197.7_Silent_p.A91A|RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000586847.1_3'UTR	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	91					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)		p.A91A(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AAGACCATGCGCGCCTGAGGG	0.527																																																	1	Substitution - coding silent(1)	kidney(1)						G	,	1,4405	2.1+/-5.4	0,1,2202	108.0	109.0	109.0		273,273	-7.4	0.0	18	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RBFA	NM_001171967.1,NM_024805.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	91/243,91/344	77797401	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79863			BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.273G>A	18.37:g.77797401G>A			Q6PF07|Q8WZ65|Q9H776	Silent	SNP	ENST00000306735.5	37	CCDS12021.1																																																																																				0.527	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2		NM_024805	
RECQL5	9400	broad.mit.edu	37	17	73626918	73626919	+	Splice_Site	INS	-	-	TG	rs377391469|rs142406301		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:73626918_73626919insTG	ENST00000317905.5	-	12	1745		c.e12-1		RECQL5_ENST00000423245.2_Splice_Site|RECQL5_ENST00000443199.2_Splice_Site|SMIM5_ENST00000375215.3_5'Flank	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.?(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTTCTCATCTGTGGGGGGGG	0.644								Other identified genes with known or suspected DNA repair function																																									1	Unknown(1)	upper_aerodigestive_tract(1)																																								SO:0001630	splice_region_variant	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1586-1->CA	17.37:g.73626921_73626922dupTG			Q9H0B1|Q9P1W7|Q9UNC8	Splice_Site	INS	ENST00000317905.5	37	CCDS42380.1																																																																																				0.644	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259	Intron
SAAL1	113174	hgsc.bcm.edu	37	11	18127558	18127559	+	In_Frame_Ins	INS	-	-	CGG	rs74589784|rs72431213|rs148650821	byFrequency	TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:18127558_18127559insCGG	ENST00000524803.1	-	1	79_80	c.30_31insCCG	c.(28-33)ccgggt>ccgCCGggt	p.10_11insP	SAAL1_ENST00000300013.4_In_Frame_Ins_p.10_11insP|SAAL1_ENST00000529318.1_In_Frame_Ins_p.10_11insP|SAAL1_ENST00000533851.1_5'UTR			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	10				P -> PP (in Ref. 3; AAH12010). {ECO:0000305}.						breast(2)|large_intestine(5)|lung(8)	15						TTGTCGCGACCCGGCGGCGGCG	0.673											OREG0020819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		734	0.146565	0.0174	0.1556	5008	,	,		17393	0.1349		0.2604	False		,,,				2504	0.2096																0																																										SO:0001652	inframe_insertion	113174			AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.28_30dupCCG	11.37:g.18127565_18127567dupCGG	ENSP00000432487:p.Pro10_Pro10dup	723	A6NH05	In_Frame_Ins	INS	ENST00000524803.1	37	CCDS31439.1																																																																																				0.673	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1		NM_138421	
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861|rs3832595	byFrequency	TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	GCT	GCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcagcc>gcc	p.13_14AA>A	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13				Missing (in Ref. 1 and 3). {ECO:0000305}.	bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764														1558	0.311102	0.0401	0.389	5008	,	,		9448	0.4038		0.3956	False		,,,				2504	0.4397																0										337,0,3741		45,0,247,0,0,1747						1.6	0.3		dbSNP_107	8	2693,2,5163		669,0,1355,0,2,1903	no	codingComplex	SFRP1	NM_003012.4		714,0,1602,0,2,3650	A1A1,A1A2,A1R,A2A2,A2R,RR		34.2963,8.2639,25.4021				3030,2,8904				SO:0001651	inframe_deletion	6422			AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.39_41delAGC	8.37:g.41166638_41166640delGCT	ENSP00000220772:p.Ala14del		O00546|O14779	In_Frame_Del	DEL	ENST00000220772.3	37	CCDS34886.1																																																																																				0.764	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1		NM_003012	
SPAG1	6674	hgsc.bcm.edu	37	8	101206459	101206460	+	In_Frame_Ins	INS	-	-	GAC	rs72062044|rs56246127	byFrequency	TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr8:101206459_101206460insGAC	ENST00000388798.2	+	10	1250_1251	c.1059_1060insGAC	c.(1060-1062)agc>GACagc	p.353_354insD	SPAG1_ENST00000520643.1_In_Frame_Ins_p.353_354insD|SPAG1_ENST00000520508.1_In_Frame_Ins_p.353_354insD|SPAG1_ENST00000251809.3_In_Frame_Ins_p.353_354insD	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	353					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AAGAAGGAAAAAGCGGAAGAAA	0.356														753	0.150359	0.0537	0.2392	5008	,	,		16467	0.0734		0.2117	False		,,,				2504	0.2342																0									,	320,3944		14,292,1826					,	0.9	0.0		dbSNP_130	64	1643,6611		162,1319,2646	no	coding,coding	SPAG1	NM_172218.2,NM_003114.4	,	176,1611,4472	A1A1,A1R,RR		19.9055,7.5047,15.6814	,	,		1963,10555				SO:0001652	inframe_insertion	6674			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	Exception_encountered	8.37:g.101206459_101206460insGAC	ENSP00000373450:p.Lys353_Ser354insAsp		A6NP70|B3KQ58|G3XAM3|Q7Z5G1	In_Frame_Ins	INS	ENST00000388798.2	37	CCDS34930.1																																																																																				0.356	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2		NM_172218	
SRMS	6725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62174694	62174694	+	Missense_Mutation	SNP	G	G	T	rs374588298		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr20:62174694G>T	ENST00000217188.1	-	3	658	c.618C>A	c.(616-618)aaC>aaA	p.N206K		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	206	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.N206K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCAGCAGGGGGTTCTGGATCA	0.652																																																	1	Substitution - Missense(1)	kidney(1)											73.0	69.0	70.0					20																	62174694		2201	4300	6501	SO:0001583	missense	6725				CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.618C>A	20.37:g.62174694G>T	ENSP00000217188:p.Asn206Lys			Missense_Mutation	SNP	ENST00000217188.1	37	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	G	2.728	-0.265134	0.05754	.	.	ENSG00000125508	ENST00000217188	T	0.25085	1.82	4.57	-2.79	0.05841	SH2 motif (2);	0.870080	0.09929	N	0.737449	T	0.17577	0.0422	L	0.50333	1.59	0.19300	N	0.999976	B	0.26318	0.146	B	0.23275	0.045	T	0.29336	-1.0015	10	0.29301	T	0.29	.	4.2045	0.10481	0.3709:0.0:0.3864:0.2427	.	206	Q9H3Y6	SRMS_HUMAN	K	206	ENSP00000217188:N206K	ENSP00000217188:N206K	N	-	3	2	SRMS	61645138	0.974000	0.33945	0.001000	0.08648	0.006000	0.05464	0.639000	0.24690	-0.114000	0.11936	-0.140000	0.14226	AAC		0.652	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1		NM_080823	
SRPK3	26576	hgsc.bcm.edu	37	X	153047253	153047253	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chrX:153047253A>G	ENST00000370101.3	+	4	401	c.355A>G	c.(355-357)Aca>Gca	p.T119A	SRPK3_ENST00000489426.1_Missense_Mutation_p.T186A|SRPK3_ENST00000370104.1_Missense_Mutation_p.T119A|SRPK3_ENST00000393786.3_Missense_Mutation_p.T119A|SRPK3_ENST00000370100.1_Missense_Mutation_p.T77A|SRPK3_ENST00000370108.3_Missense_Mutation_p.T119A	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TTACACGGAGACAGCTGTGGA	0.612																																					Esophageal Squamous(167;766 3400 32156)												0													124.0	96.0	105.0					X																	153047253		2201	4300	6501	SO:0001583	missense	26576			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.355A>G	X.37:g.153047253A>G	ENSP00000359119:p.Thr119Ala		Q13583|Q4F970|Q562F5|Q9UM62	Missense_Mutation	SNP	ENST00000370101.3	37	CCDS35441.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734476	0.69189	.	.	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000029	T	0.24084	0.0583	N	0.04746	-0.17	0.58432	D	0.999998	B;B;P;P;B	0.49635	0.017;0.09;0.712;0.926;0.01	B;B;P;D;B	0.65773	0.077;0.047;0.684;0.938;0.094	T	0.30268	-0.9984	10	0.27082	T	0.32	-12.5184	14.255	0.66045	1.0:0.0:0.0:0.0	.	77;119;119;119;186	Q9UPE1-2;Q9UPE1-4;Q9UPE1-3;Q9UPE1;E7ETV6	.;.;.;SRPK3_HUMAN;.	A	186;119;119;119;119;77	ENSP00000420058:T186A;ENSP00000377376:T119A;ENSP00000359122:T119A;ENSP00000359126:T119A;ENSP00000359119:T119A;ENSP00000359118:T77A	ENSP00000359118:T77A	T	+	1	0	SRPK3	152700447	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.502000	0.53332	2.013000	0.59113	0.430000	0.28490	ACA		0.612	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1		NM_014370	
STARD3	10948	broad.mit.edu;hgsc.bcm.edu	37	17	37815807	37815807	+	Splice_Site	SNP	G	G	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:37815807G>A	ENST00000336308.5	+	9	1013		c.e9+1		STARD3_ENST00000580611.1_Splice_Site|STARD3_ENST00000544210.2_Splice_Site|STARD3_ENST00000394250.4_Splice_Site	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3						cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAAGAATAATGTAAGAAGCCC	0.532																																																	1	Unknown(1)	kidney(1)											76.0	80.0	79.0					17																	37815807		2203	4300	6503	SO:0001630	splice_region_variant	10948				CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.795+1G>A	17.37:g.37815807G>A			A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Splice_Site	SNP	ENST00000336308.5	37	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449418	0.84101	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7049	0.88306	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STARD3	35069333	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	9.388000	0.97237	2.259000	0.74868	0.655000	0.94253	.		0.532	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			Intron
STAT6	6778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57493192	57493192	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr12:57493192G>T	ENST00000300134.3	-	16	2101	c.1776C>A	c.(1774-1776)ttC>ttA	p.F592L	STAT6_ENST00000537215.2_Missense_Mutation_p.F482L|STAT6_ENST00000543873.2_Missense_Mutation_p.F592L|STAT6_ENST00000556155.1_Missense_Mutation_p.F592L|STAT6_ENST00000538913.2_Missense_Mutation_p.F482L|STAT6_ENST00000454075.3_Missense_Mutation_p.F592L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	592	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.F592L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTTGGCAGAGAATGGCTGGA	0.532																																																	1	Substitution - Missense(1)	kidney(1)											88.0	91.0	90.0					12																	57493192		2203	4300	6503	SO:0001583	missense	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1776C>A	12.37:g.57493192G>T	ENSP00000300134:p.Phe592Leu		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168691	0.78339	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;D	0.96232	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-3.95	4.47	0.247	0.15521	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	M	0.63428	1.95	0.54753	D	0.999989	D;D	0.76494	0.986;0.999	P;D	0.83275	0.892;0.996	D	0.94601	0.7796	10	0.87932	D	0	-18.0987	7.6225	0.28193	0.424:0.0:0.576:0.0	.	592;592	A8K4S9;P42226	.;STAT6_HUMAN	L	592;482;482;592;592;482;592;482;20;592	ENSP00000300134:F592L;ENSP00000445409:F482L;ENSP00000438451:F592L;ENSP00000451742:F592L;ENSP00000444530:F482L;ENSP00000401486:F592L;ENSP00000450428:F20L	ENSP00000300134:F592L	F	-	3	2	STAT6	55779459	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	2.318000	0.43779	-0.051000	0.13334	-0.367000	0.07326	TTC		0.532	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3		NM_003153	
SUCLG1	8802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	84668507	84668507	+	Missense_Mutation	SNP	G	G	T	rs376171433		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr2:84668507G>T	ENST00000393868.2	-	4	605	c.395C>A	c.(394-396)gCt>gAt	p.A132D		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	132					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)	p.A132D(1)		kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TGCCTCAATAGCTTCATTAAT	0.483																																					Ovarian(48;203 1101 37206 40305 50790)												1	Substitution - Missense(1)	kidney(1)											85.0	82.0	83.0					2																	84668507		2203	4300	6503	SO:0001583	missense	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.395C>A	2.37:g.84668507G>T	ENSP00000377446:p.Ala132Asp		Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687581	0.88639	.	.	ENSG00000163541	ENST00000393868	D	0.84873	-1.91	5.59	5.59	0.84812	CoA-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95424	0.8514	H	0.98238	4.18	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.71656	0.888;0.974	D	0.96791	0.9582	10	0.87932	D	0	-15.7758	17.4491	0.87587	0.0:0.0:1.0:0.0	.	132;132	B7Z438;P53597	.;SUCA_HUMAN	D	132	ENSP00000377446:A132D	ENSP00000377446:A132D	A	-	2	0	SUCLG1	84522018	1.000000	0.71417	0.961000	0.40146	0.668000	0.39293	9.804000	0.99143	2.793000	0.96121	0.561000	0.74099	GCT		0.483	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2		NM_003849	
TARBP1	6894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	234582578	234582578	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:234582578C>T	ENST00000040877.1	-	12	2104	c.2105G>A	c.(2104-2106)tGc>tAc	p.C702Y		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	702					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.C702Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTTCAACCTGCATGTGTTCAA	0.443																																																	1	Substitution - Missense(1)	kidney(1)											149.0	129.0	136.0					1																	234582578		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2105G>A	1.37:g.234582578C>T	ENSP00000040877:p.Cys702Tyr		Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	8.024	0.760187	0.15846	.	.	ENSG00000059588	ENST00000040877	T	0.06849	3.25	5.2	3.23	0.37069	.	0.415497	0.28821	N	0.014028	T	0.12603	0.0306	L	0.54323	1.7	0.09310	N	1	P	0.51351	0.944	P	0.45913	0.497	T	0.06320	-1.0833	10	0.72032	D	0.01	-19.7645	13.2389	0.59985	0.0:0.6706:0.3294:0.0	.	702	Q13395	TARB1_HUMAN	Y	702	ENSP00000040877:C702Y	ENSP00000040877:C702Y	C	-	2	0	TARBP1	232649201	0.965000	0.33210	0.033000	0.17914	0.001000	0.01503	1.022000	0.30052	1.413000	0.46997	-0.211000	0.12701	TGC		0.443	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1		NM_005646	
TBC1D29	26083	broad.mit.edu;hgsc.bcm.edu	37	17	28887640	28887640	+	Silent	SNP	T	T	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:28887640T>C	ENST00000580161.1	+	4	2581	c.84T>C	c.(82-84)tcT>tcC	p.S28S	TBC1D29_ENST00000584297.1_Silent_p.S28S|TBC1D29_ENST00000579181.1_Silent_p.S28S|RP11-218M11.6_ENST00000582125.1_RNA			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	28	Rab-GAP TBC; truncated. {ECO:0000255|PROSITE-ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.S28S(1)		breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CACAGATCTCTCTCGGGCTCA	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											129.0	106.0	114.0					17																	28887640		2203	4300	6503	SO:0001819	synonymous_variant	26083			BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.84T>C	17.37:g.28887640T>C				Silent	SNP	ENST00000580161.1	37	CCDS32606.1																																																																																				0.547	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1		NM_015594	
TCN1	6947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	59622280	59622280	+	Silent	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:59622280A>G	ENST00000257264.3	-	7	1070	c.966T>C	c.(964-966)ccT>ccC	p.P322P	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	322	Flexible linker.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.P322P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACAGTTATAGGCTCATCAG	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											100.0	96.0	97.0					11																	59622280		2201	4295	6496	SO:0001819	synonymous_variant	6947			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.966T>C	11.37:g.59622280A>G			A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	CCDS7978.1																																																																																				0.388	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1		NM_001062	
TDGF1P3	6998	broad.mit.edu	37	X	109764826	109764826	+	RNA	SNP	C	C	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chrX:109764826C>G	ENST00000602699.1	+	0	1287					NR_002718.2		P51864	TDGF3_HUMAN	teratocarcinoma-derived growth factor 1 pseudogene 3						signal transduction (GO:0007165)	cell outer membrane (GO:0009279)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)										GATGGATGAGCACCTCGTGGC	0.517																																																	0																																												0			M96956		Xq23	2011-06-24	2011-06-24	2011-06-24	ENSG00000225366	ENSG00000225366			11703	pseudogene	pseudogene			"""teratocarcinoma-derived growth factor 3, pseudogene"""	TDGF3		1882841	Standard	NR_002718		Approved	TDGF2, CR-3, CRIPTO-3, CRIPTO3	uc004eos.1	P51864	OTTHUMG00000022195		X.37:g.109764826C>G				RNA	SNP	ENST00000602699.1	37																																																																																					0.517	TDGF1P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467333.2		NR_002718	
TRAPPC12	51112	broad.mit.edu;hgsc.bcm.edu	37	2	3392356	3392356	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr2:3392356G>A	ENST00000324266.5	+	2	1157	c.962G>A	c.(961-963)cGg>cAg	p.R321Q	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R321Q	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	321					vesicle-mediated transport (GO:0016192)			p.R321Q(1)									GGAGTCCTGCGGGCCGTGGCC	0.682																																																	1	Substitution - Missense(1)	kidney(1)											27.0	25.0	26.0					2																	3392356		2200	4293	6493	SO:0001583	missense	0			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.962G>A	2.37:g.3392356G>A	ENSP00000324318:p.Arg321Gln		B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321560	0.23994	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.42131	0.98;0.98	5.07	-1.57	0.08506	.	0.461131	0.25469	N	0.030460	T	0.19366	0.0465	N	0.08118	0	0.19300	N	0.99998	P;P;D	0.61080	0.577;0.749;0.989	B;B;P	0.47206	0.096;0.131;0.541	T	0.39702	-0.9601	10	0.13108	T	0.6	.	5.9531	0.19259	0.0:0.3123:0.136:0.5517	.	304;321;321	E7ENL7;Q8WVT3;Q53S18	.;TPC12_HUMAN;.	Q	321;304;321	ENSP00000371544:R321Q;ENSP00000324318:R321Q	ENSP00000303612:R304Q	R	+	2	0	TTC15	3371363	0.946000	0.32159	0.000000	0.03702	0.015000	0.08874	3.720000	0.54933	-0.333000	0.08476	-1.083000	0.02208	CGG		0.682	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2		NM_016030	
UBE2W	55284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	74742665	74742665	+	Missense_Mutation	SNP	G	G	T	rs17855421		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr8:74742665G>T	ENST00000602593.1	-	2	110	c.58C>A	c.(58-60)Cct>Act	p.P20T	RP11-463D19.2_ENST00000358757.5_Missense_Mutation_p.P20T|UBE2W_ENST00000602969.1_Missense_Mutation_p.P31T|UBE2W_ENST00000517608.1_Missense_Mutation_p.P49T|UBE2W_ENST00000419880.3_Missense_Mutation_p.P60T|UBE2W_ENST00000453587.2_Missense_Mutation_p.P20T			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	20					cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.P31T(2)		kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			ATTCCAGGAGGTGGGTCATTT	0.343																																					Pancreas(14;490 592 20090 21022 23311)												2	Substitution - Missense(2)	kidney(2)											141.0	136.0	137.0					8																	74742665		1822	4079	5901	SO:0001583	missense	55284			AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"""Ubiquitin-conjugating enzymes E2"""	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517	ENST00000602593.1:c.58C>A	8.37:g.74742665G>T	ENSP00000473561:p.Pro20Thr		B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Missense_Mutation	SNP	ENST00000602593.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.489003|3.489003	0.64074|0.64074	.|.	.|.	ENSG00000104343|ENSG00000104343	ENST00000523278|ENST00000453587;ENST00000517608;ENST00000419880	.|T;T	.|0.62364	.|1.13;0.03	5.76|5.76	4.89|4.89	0.63831|0.63831	.|Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71426|0.71426	0.3338|0.3338	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.42735	.|0.788;0.063;0.614	.|P;B;P	.|0.48840	.|0.49;0.241;0.592	T|T	0.75499|0.75499	-0.3296|-0.3296	5|10	.|0.62326	.|D	.|0.03	-0.0843|-0.0843	13.9114|13.9114	0.63869|0.63869	0.0744:0.0:0.9256:0.0|0.0744:0.0:0.9256:0.0	.|.	.|20;31;20	.|Q96B02;Q96B02-2;C9JJH0	.|UBE2W_HUMAN;.;.	Q|T	15|20;20;31	.|ENSP00000403764:P20T;ENSP00000428813:P20T	.|ENSP00000397453:P31T	H|P	-|-	3|1	2|0	UBE2W|UBE2W	74905219|74905219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.524000|9.524000	0.98036|0.98036	1.566000|1.566000	0.49654|0.49654	0.655000|0.655000	0.94253|0.94253	CAC|CCT		0.343	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001001481	
UGT2B15	7366	broad.mit.edu;hgsc.bcm.edu	37	4	69519852	69519852	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr4:69519852G>T	ENST00000338206.5	-	5	1225	c.1216C>A	c.(1216-1218)Cac>Aac	p.H406N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	406					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.H406N(1)								Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	GCTTTCATGTGAGCAATGTTA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											156.0	149.0	151.0					4																	69519852		2203	4293	6496	SO:0001583	missense	7366			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1216C>A	4.37:g.69519852G>T	ENSP00000341045:p.His406Asn		A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	g	5.201	0.222676	0.09863	.	.	ENSG00000196620	ENST00000338206	T	0.61392	0.11	2.57	2.57	0.30868	.	0.000000	0.85682	U	0.000000	T	0.58764	0.2145	M	0.80028	2.48	0.23063	N	0.998352	B	0.20459	0.045	B	0.26202	0.067	T	0.59026	-0.7531	10	0.59425	D	0.04	.	10.831	0.46661	0.0:0.0:1.0:0.0	.	406	P54855	UDB15_HUMAN	N	406	ENSP00000341045:H406N	ENSP00000341045:H406N	H	-	1	0	UGT2B15	69202447	0.286000	0.24305	0.042000	0.18584	0.018000	0.09664	3.174000	0.50847	1.421000	0.47157	0.455000	0.32223	CAC		0.468	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1		NM_001076	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188218	10188218	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr3:10188218G>T	ENST00000256474.2	+	2	1201	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	121	Involved in binding to CCT complex.		D -> G (in VHLD; type I; dbSNP:rs5030832). {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.D121Y(6)|p.R120fs*38(1)|p.?(1)|p.D121_A122del(1)|p.R120fs*34(1)|p.R120fs*10(1)|p.L118_G123>P(1)|p.D121fs*38(1)|p.D121*(1)|p.W117fs*1(1)|p.A122fs*7(1)|p.D121fs*35(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)		GCTCTTCAGAGATGCAGGGAC	0.502		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"""	17	Deletion - Frameshift(7)|Substitution - Missense(6)|Deletion - In frame(1)|Substitution - Nonsense(1)|Unknown(1)|Complex - deletion inframe(1)	kidney(17)	GRCh37	CD962176|CM056724	VHL	D|M							184.0	171.0	176.0					3																	10188218		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.361G>T	3.37:g.10188218G>T	ENSP00000256474:p.Asp121Tyr		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406908	0.62399	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99841	-7.09	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.050790	0.85682	D	0.000000	D	0.99782	0.9909	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96910	0.9666	10	0.87932	D	0	-24.4217	16.3181	0.82935	0.0:0.0:1.0:0.0	.	121	P40337	VHL_HUMAN	Y	121;39	ENSP00000256474:D121Y	ENSP00000256474:D121Y	D	+	1	0	VHL	10163218	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	7.274000	0.78538	2.530000	0.85305	0.563000	0.77884	GAT		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
XG	7499	hgsc.bcm.edu;ucsc.edu	37	X	2688594	2688594	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chrX:2688594delA	ENST00000381174.5	+	2	290	c.65delA	c.(64-66)caafs	p.Q22fs	XG_ENST00000419513.2_Frame_Shift_Del_p.Q22fs|XG_ENST00000426774.1_Frame_Shift_Del_p.Q22fs			P55808	XG_HUMAN	Xg blood group	22						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCAATAGGTCAAAGAGACTTT	0.517																																																	0													282.0	247.0	259.0					X																	2688594		2203	4296	6499	SO:0001589	frameshift_variant	7499			AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.65delA	X.37:g.2688594delA	ENSP00000370566:p.Gln22fs		E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Frame_Shift_Del	DEL	ENST00000381174.5	37	CCDS14120.1																																																																																				0.517	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2		NM_175569	
ZFP42	132625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	188924839	188924839	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr4:188924839A>G	ENST00000326866.4	+	4	1286	c.878A>G	c.(877-879)aAa>aGa	p.K293R	ZFP42_ENST00000509524.1_Missense_Mutation_p.K293R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	293					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K293R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AATAACCTGAAAGCCCACATC	0.458																																																	1	Substitution - Missense(1)	kidney(1)											62.0	61.0	61.0					4																	188924839		2203	4300	6503	SO:0001583	missense	132625			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.878A>G	4.37:g.188924839A>G	ENSP00000317686:p.Lys293Arg		D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657161	0.29425	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.35973	1.28;1.28	4.39	3.21	0.36854	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.112621	0.64402	D	0.000018	T	0.20780	0.0500	L	0.31120	0.905	0.31622	N	0.650149	P	0.45634	0.863	B	0.35039	0.194	T	0.20907	-1.0261	10	0.44086	T	0.13	.	8.3549	0.32324	0.9048:0.0:0.0952:0.0	.	293	Q96MM3	ZFP42_HUMAN	R	293	ENSP00000317686:K293R;ENSP00000424662:K293R	ENSP00000317686:K293R	K	+	2	0	ZFP42	189161833	1.000000	0.71417	0.722000	0.30670	0.065000	0.16274	8.889000	0.92470	1.020000	0.39573	0.533000	0.62120	AAA		0.458	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1		NM_174900	
ZSCAN31	64288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28294515	28294515	+	Silent	SNP	T	T	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr6:28294515T>G	ENST00000414429.1	-	8	1552	c.649A>C	c.(649-651)Aga>Cga	p.R217R	ZSCAN31_ENST00000446474.1_Silent_p.R58R|ZSCAN31_ENST00000344279.6_Silent_p.R217R|ZSCAN31_ENST00000439158.1_Silent_p.R217R|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000396838.2_Silent_p.R217R			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	217					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R217R(1)									CAAGTTTCTCTGTACTTAGAA	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											115.0	111.0	113.0					6																	28294515		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.649A>C	6.37:g.28294515T>G			Q6P178|Q8WWS5	Silent	SNP	ENST00000414429.1	37	CCDS4649.1																																																																																				0.428	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1		NM_030899	
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997	byFrequency	TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr19:52942411G>A	ENST00000332323.6	+	4	1798	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_ENST00000433050.1_Silent_p.A566A|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	579					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443																																																	4	Substitution - coding silent(4)	kidney(4)											63.0	62.0	62.0					19																	52942411		692	1591	2283	SO:0001819	synonymous_variant	147658			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1737G>A	19.37:g.52942411G>A			Q76KX9	Silent	SNP	ENST00000332323.6	37	CCDS46165.1																																																																																				0.443	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1		NM_182512	
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr19:53472914A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTGATTTTCAATTAAAAACC	0.338																																																	0																																												79986																															19.37:g.53472914A>G				RNA	SNP	ENST00000600068.1	37																																																																																					0.338	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			
ZNF418	147686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58439174	58439174	+	Silent	SNP	A	A	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr19:58439174A>T	ENST00000396147.1	-	4	666	c.375T>A	c.(373-375)cgT>cgA	p.R125R	ZNF418_ENST00000599852.1_Silent_p.R40R|ZNF418_ENST00000425570.3_Silent_p.R146R|ZNF418_ENST00000595830.1_Silent_p.R125R|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	125					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.R125R(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCTGGTGCGGACGGTTTGAAC	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											168.0	174.0	172.0					19																	58439174		2203	4300	6503	SO:0001819	synonymous_variant	147686			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.375T>A	19.37:g.58439174A>T			Q2M1S2|Q670L5|Q96N18	Silent	SNP	ENST00000396147.1	37	CCDS42642.1																																																																																				0.458	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1		NM_133460	
