#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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	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_refseq_mrna_id	i_secondary_variant_classification
RBAK	57786	hgsc.bcm.edu	37	7	5097321	5097321	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr7:5097321A>G	ENST00000353796.3	+	5	473	c.149A>G	c.(148-150)gAt>gGt	p.D50G	RBAK-RBAKDN_ENST00000407184.1_Missense_Mutation_p.D50G|RBAK-RBAKDN_ENST00000396904.2_Missense_Mutation_p.D50G|RBAK_ENST00000396912.1_Missense_Mutation_p.D50G	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ACAGGATATGATACCACCAAG	0.453																																																	0			7											130.0	114.0	119.0					7																	5097321		2203	4300	6503	5063847	SO:0001583	missense	57786			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.149A>G	7.37:g.5097321A>G	ENSP00000275423:p.Asp50Gly		5063847	A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.862177	0.32884	.	.	ENSG00000146587	ENST00000407184;ENST00000353796;ENST00000396904;ENST00000396912	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	3.3	3.3	0.37823	Krueppel-associated box (3);	0.141960	0.32459	N	0.006063	T	0.34395	0.0896	N	0.04746	-0.17	0.30448	N	0.775556	D	0.63880	0.993	D	0.72338	0.977	T	0.37663	-0.9696	9	0.20046	T	0.44	.	6.725	0.23350	0.7574:0.2426:0.0:0.0	.	50	Q9NYW8	RBAK_HUMAN	G	50	ENSP00000385560:D50G;ENSP00000275423:D50G;ENSP00000380112:D50G;ENSP00000380120:D50G	ENSP00000275423:D50G	D	+	2	0	RBAK	5063847	0.093000	0.21703	0.025000	0.17156	0.073000	0.16967	1.763000	0.38461	1.724000	0.51502	0.379000	0.24179	GAT		0.453	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163	
GLI3	2737	hgsc.bcm.edu	37	7	42006129	42006129	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr7:42006129C>T	ENST00000395925.3	-	15	2626	c.2542G>A	c.(2542-2544)Gac>Aac	p.D848N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	848					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCGCTGCTGTCCCTTCTGTTG	0.642									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0			7											57.0	58.0	57.0					7																	42006129		2203	4300	6503	41972654	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2542G>A	7.37:g.42006129C>T	ENSP00000379258:p.Asp848Asn		41972654	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305867	0.40795	.	.	ENSG00000106571	ENST00000395925	D	0.92348	-3.02	4.98	4.98	0.66077	.	0.198643	0.52532	D	0.000065	D	0.94879	0.8345	M	0.71036	2.16	0.80722	D	1	D	0.56035	0.974	P	0.58577	0.841	D	0.94807	0.7975	10	0.49607	T	0.09	.	18.268	0.90057	0.0:1.0:0.0:0.0	.	848	P10071	GLI3_HUMAN	N	848	ENSP00000379258:D848N	ENSP00000379258:D848N	D	-	1	0	GLI3	41972654	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	5.958000	0.70330	2.284000	0.76573	0.561000	0.74099	GAC		0.642	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
EGFR	1956	hgsc.bcm.edu	37	7	55241660	55241660	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr7:55241660T>C	ENST00000275493.2	+	18	2285	c.2108T>C	c.(2107-2109)cTc>cCc	p.L703P	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L658P|EGFR_ENST00000454757.2_Missense_Mutation_p.L650P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	703	Important for dimerization, phosphorylation and activation.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L703P(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AACCAAGCTCTCTTGAGGATC	0.547		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	4	Substitution - Missense(4)	ovary(3)|lung(1)	7											93.0	96.0	95.0					7																	55241660		2203	4300	6503	55209154	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2108T>C	7.37:g.55241660T>C	ENSP00000275493:p.Leu703Pro		55209154	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.349012	0.61183	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.76578	-1.03;-1.03;-1.02	5.83	4.65	0.58169	Protein kinase-like domain (1);	0.116895	0.64402	D	0.000017	T	0.71945	0.3400	L	0.40543	1.245	0.58432	D	0.999999	P;P	0.49358	0.923;0.825	B;P	0.46110	0.386;0.504	T	0.70945	-0.4734	10	0.48119	T	0.1	.	9.7366	0.40392	0.2841:0.0:0.0:0.7159	.	658;703	Q504U8;P00533	.;EGFR_HUMAN	P	658;573;703;650	ENSP00000415559:L658P;ENSP00000275493:L703P;ENSP00000395243:L650P	ENSP00000275493:L703P	L	+	2	0	EGFR	55209154	1.000000	0.71417	0.986000	0.45419	0.959000	0.62525	3.250000	0.51445	0.981000	0.38548	0.460000	0.39030	CTC		0.547	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
SEMA3E	9723	hgsc.bcm.edu	37	7	82997234	82997234	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr7:82997234G>A	ENST00000307792.3	-	17	2463	c.1996C>T	c.(1996-1998)Cgt>Tgt	p.R666C	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R606C	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	666	Ig-like C2-type.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTGATTTTACGGACCGTATGG	0.463																																																	0			7											131.0	115.0	120.0					7																	82997234		2203	4300	6503	82835170	SO:0001583	missense	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1996C>T	7.37:g.82997234G>A	ENSP00000303212:p.Arg666Cys		82835170	B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222734	0.58668	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.01613	4.73;4.73	5.77	5.77	0.91146	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.066187	0.64402	D	0.000012	T	0.05318	0.0141	L	0.59436	1.845	0.37516	D	0.917325	D	0.63880	0.993	P	0.53649	0.731	T	0.38993	-0.9635	10	0.42905	T	0.14	.	12.9659	0.58483	0.0:0.0:0.7318:0.2682	.	666	O15041	SEM3E_HUMAN	C	666;606;666	ENSP00000303212:R666C;ENSP00000405052:R606C	ENSP00000303212:R666C	R	-	1	0	SEMA3E	82835170	0.138000	0.22547	0.370000	0.25965	0.978000	0.69477	1.280000	0.33202	2.727000	0.93392	0.585000	0.79938	CGT		0.463	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
SEMA3A	10371	hgsc.bcm.edu	37	7	83592543	83592543	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr7:83592543C>T	ENST00000265362.4	-	16	2152	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R613Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	613	Ig-like C2-type.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.R613Q(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTCTTCATTTCGCCTCTGGAA	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)	7											187.0	187.0	187.0					7																	83592543		2203	4300	6503	83430479	SO:0001583	missense	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1838G>A	7.37:g.83592543C>T	ENSP00000265362:p.Arg613Gln		83430479		Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740001	0.30865	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.01527	4.8;4.8	5.9	4.91	0.64330	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.355176	0.32624	N	0.005858	T	0.00724	0.0024	N	0.01705	-0.755	0.31357	N	0.681812	B	0.02656	0.0	B	0.01281	0.0	T	0.43877	-0.9364	10	0.14252	T	0.57	.	3.4603	0.07531	0.0:0.5419:0.2844:0.1737	.	613	Q14563	SEM3A_HUMAN	Q	613	ENSP00000265362:R613Q;ENSP00000415260:R613Q	ENSP00000265362:R613Q	R	-	2	0	SEMA3A	83430479	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.637000	0.46553	2.802000	0.96397	0.650000	0.86243	CGA		0.403	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	
ZNF804B	219578	hgsc.bcm.edu	37	7	88964351	88964351	+	Silent	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr7:88964351C>T	ENST00000333190.4	+	4	2664	c.2055C>T	c.(2053-2055)acC>acT	p.T685T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	685							metal ion binding (GO:0046872)	p.T685T(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCAGCATGACCAGCAAGGTTT	0.448										HNSCC(36;0.09)																																							1	Substitution - coding silent(1)	ovary(1)	7											80.0	77.0	78.0					7																	88964351		2203	4300	6503	88802287	SO:0001819	synonymous_variant	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2055C>T	7.37:g.88964351C>T			88802287	B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	CCDS5613.1																																																																																				0.448	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
SLC26A4	5172	hgsc.bcm.edu	37	7	107342418	107342418	+	Silent	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr7:107342418T>C	ENST00000265715.3	+	17	2174	c.1950T>C	c.(1948-1950)gtT>gtC	p.V650V	SLC26A4_ENST00000541474.1_Silent_p.V211V|SLC26A4_ENST00000543100.1_Silent_p.V219V|SLC26A4_ENST00000544569.1_Silent_p.V237V	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	650	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.V650V(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAGTGAACGTTCCCAAAGTGC	0.453									Pendred syndrome																																								1	Substitution - coding silent(1)	ovary(1)	7											130.0	109.0	116.0					7																	107342418		2203	4300	6503	107129654	SO:0001819	synonymous_variant	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1950T>C	7.37:g.107342418T>C			107129654	B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	CCDS5746.1																																																																																				0.453	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	
ASZ1	136991	hgsc.bcm.edu	37	7	117008723	117008723	+	Silent	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr7:117008723G>A	ENST00000284629.2	-	11	1166	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.G368G(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TTATTAAATGGCCACACTGTT	0.308																																																	2	Substitution - coding silent(2)	central_nervous_system(2)	7											103.0	111.0	108.0					7																	117008723		2202	4288	6490	116795959	SO:0001819	synonymous_variant	136991			AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1104C>T	7.37:g.117008723G>A			116795959		Silent	SNP	ENST00000284629.2	37	CCDS5772.1																																																																																				0.308	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768	
SPAM1	6677	hgsc.bcm.edu	37	7	123599953	123599953	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr7:123599953C>T	ENST00000439500.1	+	6	2073	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	SPAM1_ENST00000460182.1_Missense_Mutation_p.S487F|SPAM1_ENST00000223028.7_Missense_Mutation_p.S487F|SPAM1_ENST00000340011.5_Missense_Mutation_p.S487F|SPAM1_ENST00000402183.2_Missense_Mutation_p.S487F	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	487					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCTTCACCCTCCACACTATCT	0.383																																																	0			7											127.0	118.0	121.0					7																	123599953		2203	4300	6503	123387189	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1460C>T	7.37:g.123599953C>T	ENSP00000402123:p.Ser487Phe		123387189	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	8.418	0.845787	0.16963	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	3.25	-0.999	0.10208	.	2.367520	0.01853	N	0.036020	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.32693	-0.9897	10	0.41790	T	0.15	3.7967	6.4218	0.21748	0.0:0.4434:0.0:0.5566	.	487;487	Q8TC30;P38567	.;HYALP_HUMAN	F	487	ENSP00000386028:S487F;ENSP00000417934:S487F;ENSP00000345849:S487F;ENSP00000402123:S487F;ENSP00000223028:S487F	ENSP00000223028:S487F	S	+	2	0	SPAM1	123387189	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.291000	0.18994	-0.235000	0.09767	-0.157000	0.13467	TCC		0.383	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1		
GIMAP6	474344	hgsc.bcm.edu	37	7	150325095	150325095	+	Silent	SNP	G	G	A	rs561097678		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr7:150325095G>A	ENST00000328902.5	-	3	807	c.591C>T	c.(589-591)tgC>tgT	p.C197C	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	197	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.C197C(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTTGAAGCCGCAATGGCGCC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18922	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	large_intestine(1)	7											115.0	121.0	119.0					7																	150325095		2203	4300	6503	149956028	SO:0001819	synonymous_variant	474344			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.591C>T	7.37:g.150325095G>A			149956028	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Silent	SNP	ENST00000328902.5	37	CCDS34778.1																																																																																				0.572	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711	
KMT2C	58508	hgsc.bcm.edu	37	7	151962266	151962266	+	Silent	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr7:151962266G>A	ENST00000262189.6	-	8	1259	c.1041C>T	c.(1039-1041)tgC>tgT	p.C347C	KMT2C_ENST00000355193.2_Silent_p.C347C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	347			C -> G (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCGGGCTGTCGCACACTGCAC	0.378																																																	0			7											108.0	98.0	101.0					7																	151962266		2203	4296	6499	151593199	SO:0001819	synonymous_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1041C>T	7.37:g.151962266G>A			151593199	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																				0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
PCNA	5111	hgsc.bcm.edu	37	20	5099471	5099471	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr20:5099471A>G	ENST00000379160.3	-	3	505	c.263T>C	c.(262-264)aTt>aCt	p.I88T	SNORA26_ENST00000391215.1_RNA|PCNA_ENST00000379143.5_Missense_Mutation_p.I88T	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	88	Interaction with NUDT15.				base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						CCTTAGTGTAATGATATCTTC	0.433								DNA polymerases (catalytic subunits)																																									0			20											224.0	217.0	219.0					20																	5099471		2203	4300	6503	5047471	SO:0001583	missense	5111			J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.263T>C	20.37:g.5099471A>G	ENSP00000368458:p.Ile88Thr		5047471	B2R897|D3DW02	Missense_Mutation	SNP	ENST00000379160.3	37	CCDS13087.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100166	0.76983	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	4.57	4.57	0.56435	Proliferating cell nuclear antigen, PCNA, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75989	0.3925	M	0.67569	2.06	0.80722	D	1	P;B	0.51057	0.941;0.328	D;D	0.74023	0.982;0.938	T	0.77960	-0.2391	9	0.59425	D	0.04	-13.1607	12.9032	0.58137	1.0:0.0:0.0:0.0	.	88;88	B4DUA2;P12004	.;PCNA_HUMAN	T	88	.	ENSP00000368438:I88T	I	-	2	0	PCNA	5047471	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.739000	0.91574	1.908000	0.55244	0.460000	0.39030	ATT		0.433	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2		
ANKEF1	63926	hgsc.bcm.edu	37	20	10035156	10035156	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr20:10035156A>G	ENST00000378380.3	+	9	2410	c.2081A>G	c.(2080-2082)aAg>aGg	p.K694R	ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.K694R|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|AL109754.1_ENST00000408554.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	694			K -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.				calcium ion binding (GO:0005509)										TCAGAGGGAAAGAAAGTACAG	0.343																																																	0			20											108.0	98.0	101.0					20																	10035156		2203	4300	6503	9983156	SO:0001583	missense	63926			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.2081A>G	20.37:g.10035156A>G	ENSP00000367631:p.Lys694Arg		9983156	B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.774029	0.31411	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.68331	-0.32;-0.32	4.94	4.94	0.65067	.	0.539360	0.20727	N	0.086786	T	0.53318	0.1789	L	0.42245	1.32	0.36039	D	0.839981	P	0.40000	0.698	B	0.28553	0.091	T	0.65138	-0.6241	10	0.40728	T	0.16	-17.8875	13.1369	0.59413	1.0:0.0:0.0:0.0	.	694	Q9NU02	ANKR5_HUMAN	R	694	ENSP00000367644:K694R;ENSP00000367631:K694R	ENSP00000367631:K694R	K	+	2	0	ANKRD5	9983156	1.000000	0.71417	0.622000	0.29159	0.310000	0.27922	4.076000	0.57591	1.976000	0.57569	0.459000	0.35465	AAG		0.343	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096	
FLRT3	23767	hgsc.bcm.edu	37	20	14307499	14307499	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr20:14307499G>C	ENST00000378053.3	-	2	910	c.654C>G	c.(652-654)gaC>gaG	p.D218E	FLRT3_ENST00000341420.4_Missense_Mutation_p.D218E|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	218					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AGAAAACTTTGTCACCTAAAC	0.448																																																	0			20											61.0	60.0	60.0					20																	14307499		2203	4300	6503	14255499	SO:0001583	missense	23767			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.654C>G	20.37:g.14307499G>C	ENSP00000367292:p.Asp218Glu		14255499	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	G	3.159	-0.172481	0.06421	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.56941	0.43;0.43	6.16	1.69	0.24217	.	0.063932	0.64402	D	0.000004	T	0.25121	0.0610	N	0.10618	0.005	0.42957	D	0.994396	B	0.11235	0.004	B	0.23574	0.047	T	0.03555	-1.1025	10	0.12766	T	0.61	-16.2879	4.9528	0.14023	0.2754:0.0:0.4564:0.2682	.	218	Q9NZU0	FLRT3_HUMAN	E	218	ENSP00000367292:D218E;ENSP00000339912:D218E	ENSP00000339912:D218E	D	-	3	2	FLRT3	14255499	0.974000	0.33945	1.000000	0.80357	0.997000	0.91878	0.164000	0.16542	0.835000	0.34877	0.650000	0.86243	GAC		0.448	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281	
RALGAPA2	57186	hgsc.bcm.edu	37	20	20501609	20501609	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr20:20501609G>T	ENST00000202677.7	-	31	4043	c.4036C>A	c.(4036-4038)Cag>Aag	p.Q1346K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1346					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GAATGATACTGGACTGGCTCA	0.468																																																	0			20											95.0	93.0	94.0					20																	20501609		1927	4131	6058	20449609	SO:0001583	missense	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4036C>A	20.37:g.20501609G>T	ENSP00000202677:p.Gln1346Lys		20449609	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757749	0.31137	.	.	ENSG00000188559	ENST00000202677	T	0.28666	1.6	6.17	6.17	0.99709	.	0.261032	0.41001	D	0.000972	T	0.33876	0.0878	M	0.63428	1.95	0.51012	D	0.999902	B;B;B	0.26902	0.002;0.163;0.002	B;B;B	0.29440	0.003;0.102;0.007	T	0.29458	-1.0011	10	0.05721	T	0.95	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1184;1346;1346	A8MSM5;Q2PPJ7-2;Q2PPJ7	.;.;RGPA2_HUMAN	K	1346	ENSP00000202677:Q1346K	ENSP00000202677:Q1346K	Q	-	1	0	RALGAPA2	20449609	1.000000	0.71417	0.959000	0.39883	0.727000	0.41649	6.669000	0.74462	2.941000	0.99782	0.655000	0.94253	CAG		0.468	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	
ZNF337	26152	hgsc.bcm.edu	37	20	25666698	25666698	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr20:25666698T>C	ENST00000376436.1	-	2	627	c.88A>G	c.(88-90)Agc>Ggc	p.S30G	ZNF337_ENST00000538750.1_Missense_Mutation_p.S30G|ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Missense_Mutation_p.S30G			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	30	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAGCAGGGCTCAGCAGCCTC	0.552																																																	0			20											108.0	108.0	108.0					20																	25666698		2203	4300	6503	25614698	SO:0001583	missense	26152				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.88A>G	20.37:g.25666698T>C	ENSP00000365619:p.Ser30Gly		25614698	B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	7.569	0.666378	0.14710	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.01613	4.73;4.73;4.73	2.02	0.879	0.19155	Krueppel-associated box (4);	.	.	.	.	T	0.02649	0.0080	N	0.17564	0.495	0.09310	N	1	P;P	0.51057	0.941;0.941	P;P	0.60415	0.874;0.874	T	0.50939	-0.8768	9	0.37606	T	0.19	.	4.9012	0.13775	0.0:0.1762:0.0:0.8238	.	30;30	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	G	30	ENSP00000365619:S30G;ENSP00000252979:S30G;ENSP00000442181:S30G	ENSP00000252979:S30G	S	-	1	0	ZNF337	25614698	0.013000	0.17824	0.001000	0.08648	0.201000	0.24016	-0.352000	0.07701	-0.016000	0.14127	0.378000	0.23410	AGC		0.552	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1		
LBP	3929	hgsc.bcm.edu	37	20	36982805	36982805	+	Missense_Mutation	SNP	G	G	A	rs139250125	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr20:36982805G>A	ENST00000217407.2	+	4	651	c.490G>A	c.(490-492)Gct>Act	p.A164T		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	164					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAGTGACATCGCTGACGTGGA	0.617													G|||	3	0.000599042	0.0	0.0	5008	,	,		17210	0.0		0.002	False		,,,				2504	0.001																0			20						G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	57.0	48.0	51.0		490	-5.3	0.0	20	dbSNP_134	51	7,8593	5.7+/-21.5	0,7,4293	yes	missense	LBP	NM_004139.2	58	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	benign	164/482	36982805	8,12998	2203	4300	6503	36416219	SO:0001583	missense	3929				CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.490G>A	20.37:g.36982805G>A	ENSP00000217407:p.Ala164Thr		36416219	B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	CCDS13304.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	8.958	0.969977	0.18659	2.27E-4	8.14E-4	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.04454	3.62	4.77	-5.27	0.02763	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	2.755460	0.00894	N	0.002269	T	0.03783	0.0107	N	0.22421	0.69	0.09310	N	1	B	0.21753	0.06	B	0.26416	0.069	T	0.40720	-0.9548	10	0.22706	T	0.39	16.9367	6.3072	0.21145	0.0:0.2195:0.375:0.4055	.	164	P18428	LBP_HUMAN	T	164	ENSP00000217407:A164T	ENSP00000217407:A164T	A	+	1	0	LBP	36416219	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.395000	0.01053	-0.738000	0.04817	-0.311000	0.09066	GCT		0.617	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139	
TUBB1	81027	hgsc.bcm.edu	37	20	57598986	57598986	+	Silent	SNP	C	C	T	rs375902986		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr20:57598986C>T	ENST00000217133.1	+	4	773	c.504C>T	c.(502-504)agC>agT	p.S168S		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	168					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	ATTCCTTCAGCGTCATGCCTT	0.567																																																	0			20											128.0	129.0	129.0					20																	57598986		2203	4300	6503	57032381	SO:0001819	synonymous_variant	203068			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.504C>T	20.37:g.57598986C>T			57032381		Silent	SNP	ENST00000217133.1	37	CCDS13475.1																																																																																				0.567	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773	
SYCP2	10388	hgsc.bcm.edu	37	20	58467262	58467262	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr20:58467262C>G	ENST00000357552.3	-	24	2372	c.2147G>C	c.(2146-2148)tGg>tCg	p.W716S	SYCP2_ENST00000371001.2_Missense_Mutation_p.W716S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	716					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTCAACAGGCCAATCACTCTG	0.338																																																	0			20											154.0	159.0	157.0					20																	58467262		2203	4298	6501	57900657	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2147G>C	20.37:g.58467262C>G	ENSP00000350162:p.Trp716Ser		57900657	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812606	0.50527	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.24350	2.07;2.07;1.86	5.17	4.15	0.48705	.	0.099997	0.45606	D	0.000359	T	0.44498	0.1296	M	0.64997	1.995	0.51012	D	0.999909	D	0.76494	0.999	D	0.74023	0.982	T	0.36311	-0.9753	10	0.87932	D	0	-5.5717	10.4546	0.44542	0.1941:0.8059:0.0:0.0	.	716	Q9BX26	SYCP2_HUMAN	S	716	ENSP00000360040:W716S;ENSP00000350162:W716S;ENSP00000402456:W716S	ENSP00000350162:W716S	W	-	2	0	SYCP2	57900657	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.017000	0.40981	2.575000	0.86900	0.491000	0.48974	TGG		0.338	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
KLHL22	84861	hgsc.bcm.edu	37	22	20800900	20800900	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr22:20800900C>T	ENST00000328879.4	-	6	1525	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	KLHL22_ENST00000440659.2_Missense_Mutation_p.E314K	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	457					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGGTAATCCTCCCCTCTGCGG	0.622																																																	0			22											239.0	188.0	205.0					22																	20800900		2203	4300	6503	19130900	SO:0001583	missense	84861				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1369G>A	22.37:g.20800900C>T	ENSP00000331682:p.Glu457Lys		19130900	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169310	0.57584	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.41065	1.01;1.01	5.67	5.67	0.87782	Kelch-type beta propeller (1);	0.311451	0.36234	N	0.002710	T	0.30792	0.0776	L	0.40543	1.245	0.36901	D	0.890402	B	0.28820	0.224	B	0.28916	0.096	T	0.17561	-1.0365	10	0.08837	T	0.75	.	10.6721	0.45764	0.0:0.9133:0.0:0.0867	.	457	Q53GT1	KLH22_HUMAN	K	457;314	ENSP00000331682:E457K;ENSP00000405521:E314K	ENSP00000331682:E457K	E	-	1	0	KLHL22	19130900	0.882000	0.30256	1.000000	0.80357	0.996000	0.88848	1.709000	0.37909	2.687000	0.91594	0.563000	0.77884	GAG		0.622	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775	
PKDREJ	10343	hgsc.bcm.edu	37	22	46656620	46656620	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr22:46656620T>C	ENST00000253255.5	-	1	2599	c.2600A>G	c.(2599-2601)gAa>gGa	p.E867G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	867	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACCCCACTTTTCAACTTTCTT	0.398																																																	0			22											66.0	66.0	66.0					22																	46656620		2203	4300	6503	45035284	SO:0001583	missense	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2600A>G	22.37:g.46656620T>C	ENSP00000253255:p.Glu867Gly		45035284	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.317425	0.60524	.	.	ENSG00000130943	ENST00000253255	T	0.42131	0.98	5.16	2.99	0.34606	Egg jelly receptor, REJ-like (1);	0.000000	0.64402	D	0.000009	T	0.35278	0.0926	M	0.68952	2.095	0.09310	N	1	B	0.34372	0.451	B	0.31101	0.124	T	0.34453	-0.9828	10	0.59425	D	0.04	-13.2984	5.2622	0.15580	0.1565:0.0835:0.0:0.76	.	867	Q9NTG1	PKDRE_HUMAN	G	867	ENSP00000253255:E867G	ENSP00000253255:E867G	E	-	2	0	PKDREJ	45035284	0.781000	0.28676	0.005000	0.12908	0.322000	0.28314	1.723000	0.38053	0.367000	0.24454	0.533000	0.62120	GAA		0.398	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
PNMA1	9240	hgsc.bcm.edu	37	14	74179954	74179954	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr14:74179954G>A	ENST00000316836.3	-	1	1174	c.389C>T	c.(388-390)cCg>cTg	p.P130L		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	130					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		gcccggggtcggagtagggtt	0.478																																																	0			14											75.0	81.0	79.0					14																	74179954		2203	4300	6503	73249707	SO:0001583	missense	9240			AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.389C>T	14.37:g.74179954G>A	ENSP00000318914:p.Pro130Leu		73249707	A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.361643	0.41801	.	.	ENSG00000176903	ENST00000316836	T	0.08458	3.09	4.06	4.06	0.47325	.	0.159057	0.30168	N	0.010249	T	0.03564	0.0102	N	0.02697	-0.525	0.23381	N	0.997795	B	0.18013	0.025	B	0.14578	0.011	T	0.43572	-0.9383	10	0.19147	T	0.46	0.0	12.0532	0.53518	0.0:0.0:1.0:0.0	.	130	Q8ND90	PNMA1_HUMAN	L	130	ENSP00000318914:P130L	ENSP00000318914:P130L	P	-	2	0	PNMA1	73249707	0.268000	0.24133	0.104000	0.21259	0.826000	0.46750	2.352000	0.44080	2.551000	0.86045	0.655000	0.94253	CCG		0.478	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029	
CEP128	145508	hgsc.bcm.edu	37	14	81329141	81329141	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr14:81329141C>T	ENST00000555265.1	-	9	1097	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CEP128_ENST00000281129.3_Missense_Mutation_p.R241H|CEP128_ENST00000216517.6_Missense_Mutation_p.R241H			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	241						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTGATCCTGGCGTCTTTCCAC	0.463																																																	0			14											136.0	117.0	124.0					14																	81329141		2203	4300	6503	80398894	SO:0001583	missense	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.722G>A	14.37:g.81329141C>T	ENSP00000451162:p.Arg241His		80398894	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.96|14.96	2.692058|2.692058	0.48097|0.48097	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000554827|ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517	.|T;T;T	.|0.55930	.|1.13;1.13;0.49	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.155258	.|0.45606	.|D	.|0.000341	T|T	0.59252|0.59252	0.2180|0.2180	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.67145	.|0.925;0.988;0.996	.|B;P;P	.|0.57371	.|0.271;0.737;0.819	T|T	0.53913|0.53913	-0.8371|-0.8371	5|10	.|0.33940	.|T	.|0.23	.|.	12.7223|12.7223	0.57149|0.57149	0.0:0.9243:0.0:0.0757|0.0:0.9243:0.0:0.0757	.|.	.|241;122;241	.|Q6ZU80-3;Q8N3Z7;Q6ZU80	.|.;.;CE128_HUMAN	T|H	120|241	.|ENSP00000281129:R241H;ENSP00000451162:R241H;ENSP00000216517:R241H	.|ENSP00000216517:R241H	A|R	-|-	1|2	0|0	CEP128|CEP128	80398894|80398894	0.924000|0.924000	0.31332|0.31332	0.947000|0.947000	0.38551|0.38551	0.019000|0.019000	0.09904|0.09904	1.774000|1.774000	0.38573|0.38573	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.463	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446	
TSHR	7253	hgsc.bcm.edu	37	14	81610258	81610258	+	Missense_Mutation	SNP	A	A	G	rs121908859		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr14:81610258A>G	ENST00000541158.2	+	11	2178	c.1856A>G	c.(1855-1857)gAt>gGt	p.D619G	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.D619G			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	619			D -> G (in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas). {ECO:0000269|PubMed:11434721, ECO:0000269|PubMed:8413627, ECO:0000269|PubMed:9253356}.		adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.D619G(10)|p.D619del(1)|p.Y613_K621del(1)|p.D619_T620>S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGGGACAAAGATACCAAAATT	0.468			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	13	Substitution - Missense(10)|Deletion - In frame(2)|Complex - deletion inframe(1)	thyroid(13)	14											210.0	188.0	196.0					14																	81610258		2203	4300	6503	80680011	SO:0001583	missense	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1856A>G	14.37:g.81610258A>G	ENSP00000441235:p.Asp619Gly		80680011	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.762392	0.69763	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.72051	-0.62;-0.62	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.89619	0.6767	H	0.97214	3.96	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.93270	0.6651	10	0.87932	D	0	.	15.3712	0.74568	1.0:0.0:0.0:0.0	.	619	F5GYU5	.	G	619;266;619	ENSP00000441235:D619G;ENSP00000298171:D619G	ENSP00000298171:D619G	D	+	2	0	TSHR	80680011	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.339000	0.96797	2.042000	0.60477	0.459000	0.35465	GAT		0.468	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	
TSHR	7253	hgsc.bcm.edu	37	14	81610295	81610295	+	Silent	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr14:81610295C>T	ENST00000541158.2	+	11	2215	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.F631F			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	631			F -> C (in hyperthyroidism; associated with hyperfunctioning thyroid adenomas). {ECO:0000269|PubMed:8045989}.|F -> L (in HTNA; gain of function; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas). {ECO:0000269|PubMed:11434721, ECO:0000269|PubMed:7800007, ECO:0000269|PubMed:9253356}.		adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.F631L(3)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGTTGATCTTCACCGACTTCA	0.458			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	3	Substitution - Missense(3)	thyroid(3)	14											211.0	187.0	195.0					14																	81610295		2203	4300	6503	80680048	SO:0001819	synonymous_variant	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1893C>T	14.37:g.81610295C>T			80680048	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	CCDS9872.1																																																																																				0.458	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	
FBLN5	10516	hgsc.bcm.edu	37	14	92403488	92403488	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr14:92403488T>C	ENST00000342058.4	-	4	775	c.182A>G	c.(181-183)aAc>aGc	p.N61S	FBLN5_ENST00000267620.10_Missense_Mutation_p.N102S|FBLN5_ENST00000556154.1_Missense_Mutation_p.N66S	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	61	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GCCATTTTGGTTAACACACAT	0.547																																																	0			14											91.0	83.0	85.0					14																	92403488		2203	4300	6503	91473241	SO:0001583	missense	10516			AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.182A>G	14.37:g.92403488T>C	ENSP00000345008:p.Asn61Ser		91473241	O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601655	0.87055	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154;ENST00000554468	D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13	5.58	5.58	0.84498	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99396	0.9787	H	0.95224	3.64	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.974;0.997	D;D;D	0.81914	0.995;0.953;0.983	D	0.98530	1.0627	10	0.87932	D	0	.	15.7499	0.77976	0.0:0.0:0.0:1.0	.	102;66;61	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	S	102;61;66;61	ENSP00000267620:N102S;ENSP00000345008:N61S;ENSP00000451982:N66S;ENSP00000451486:N61S	ENSP00000267620:N158S	N	-	2	0	FBLN5	91473241	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.155000	0.71833	2.134000	0.65973	0.459000	0.35465	AAC		0.547	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1		
UBR7	55148	hgsc.bcm.edu	37	14	93681298	93681298	+	Silent	SNP	C	C	T	rs567093314		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr14:93681298C>T	ENST00000013070.6	+	5	701	c.465C>T	c.(463-465)tgC>tgT	p.C155C	UBR7_ENST00000416753.1_Silent_p.C79C|RP11-371E8.4_ENST00000557048.1_3'UTR	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	155							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						TGATCCAGTGCGTAGTCTGTG	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		18733	0.001		0.0	False		,,,				2504	0.0																0			14											100.0	93.0	95.0					14																	93681298		2203	4300	6503	92751051	SO:0001819	synonymous_variant	55148			AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.465C>T	14.37:g.93681298C>T			92751051	Q86U21|Q86UA9|Q96BY0|Q9NVV6	Silent	SNP	ENST00000013070.6	37	CCDS9909.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.87|13.87	2.364625|2.364625	0.41902|0.41902	.|.	.|.	ENSG00000012963|ENSG00000012963	ENST00000553857|ENST00000555113	.|.	.|.	.|.	5.91|5.91	-1.64|-1.64	0.08318|0.08318	.|.	.|.	.|.	.|.	.|.	T|T	0.57799|0.57799	0.2078|0.2078	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56372|0.56372	-0.7990|-0.7990	4|4	.|.	.|.	.|.	-19.5629|-19.5629	11.4942|11.4942	0.50398|0.50398	0.0:0.5184:0.0:0.4816|0.0:0.5184:0.0:0.4816	.|.	.|.	.|.	.|.	V|C	81|146	.|.	.|.	A|R	+|+	2|1	0|0	UBR7|UBR7	92751051|92751051	0.889000|0.889000	0.30405|0.30405	0.935000|0.935000	0.37517|0.37517	0.953000|0.953000	0.61014|0.61014	0.064000|0.064000	0.14437|0.14437	-0.049000|-0.049000	0.13379|0.13379	-0.247000|-0.247000	0.11927|0.11927	GCG|CGT		0.358	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748	
MOK	5891	hgsc.bcm.edu	37	14	102698924	102698924	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr14:102698924C>T	ENST00000361847.2	-	9	1045	c.814G>A	c.(814-816)Gag>Aag	p.E272K	MOK_ENST00000522867.1_Missense_Mutation_p.M4I|MOK_ENST00000193029.6_Missense_Mutation_p.E38K|MOK_ENST00000519058.1_Missense_Mutation_p.M4I|MOK_ENST00000522874.1_Missense_Mutation_p.E271K|MOK_ENST00000524370.1_Missense_Mutation_p.M4I|MOK_ENST00000524214.1_Missense_Mutation_p.E242K|MOK_ENST00000523231.1_Missense_Mutation_p.M4I|MOK_ENST00000520266.1_Intron|MOK_ENST00000561150.1_Missense_Mutation_p.M4I|MOK_ENST00000517966.1_Missense_Mutation_p.M4I|MOK_ENST00000522534.1_Missense_Mutation_p.M4I	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> D (in a breast pleomorphic lobular carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										GCGATTCTCTCATCGGGATCA	0.537																																																	0			14											149.0	151.0	151.0					14																	102698924		2203	4300	6503	101768677	SO:0001583	missense	5891			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.814G>A	14.37:g.102698924C>T	ENSP00000355304:p.Glu272Lys		101768677	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	CCDS9971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.96|13.96	2.392085|2.392085	0.42410|0.42410	.|.	.|.	ENSG00000080823|ENSG00000080823	ENST00000193029;ENST00000522874;ENST00000361847;ENST00000524214|ENST00000519058	T;T;T;T|.	0.62788|.	1.08;-0.0;-0.0;-0.0|.	5.5|5.5	4.57|4.57	0.56435|0.56435	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.308209|.	0.34178|.	N|.	0.004183|.	T|T	0.33206|0.33206	0.0855|0.0855	N|N	0.01779|0.01779	-0.725|-0.725	0.44275|0.44275	D|D	0.997135|0.997135	B;B|.	0.25169|.	0.119;0.07|.	B;B|.	0.29267|.	0.1;0.1|.	T|T	0.48364|0.48364	-0.9042|-0.9042	10|6	0.37606|0.87932	T|D	0.19|0	-1.6855|-1.6855	12.8612|12.8612	0.57913|0.57913	0.0:0.9168:0.0:0.0832|0.0:0.9168:0.0:0.0832	.|.	242;272|.	E7ERR8;Q9UQ07|.	.;MOK_HUMAN|.	K|I	38;271;272;242|4	ENSP00000193029:E38K;ENSP00000429469:E271K;ENSP00000355304:E272K;ENSP00000428942:E242K|.	ENSP00000193029:E38K|ENSP00000429672:M4I	E|M	-|-	1|3	0|0	RAGE|RAGE	101768677|101768677	1.000000|1.000000	0.71417|0.71417	0.049000|0.049000	0.19019|0.19019	0.940000|0.940000	0.58332|0.58332	4.346000|4.346000	0.59367|0.59367	1.244000|1.244000	0.43870|0.43870	0.462000|0.462000	0.41574|0.41574	GAG|ATG		0.537	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3		
ZNRF4	148066	hgsc.bcm.edu	37	19	5455583	5455583	+	Silent	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr19:5455583G>A	ENST00000222033.4	+	1	158	c.81G>A	c.(79-81)gcG>gcA	p.A27A		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	27						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TGAGCCACGCGGTCATTCCAA	0.657																																																	0			19											42.0	49.0	46.0					19																	5455583		2104	4208	6312	5406583	SO:0001819	synonymous_variant	148066			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.81G>A	19.37:g.5455583G>A			5406583	A8K886|O75866	Silent	SNP	ENST00000222033.4	37	CCDS42475.1																																																																																				0.657	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710	
FBN3	84467	hgsc.bcm.edu	37	19	8174153	8174153	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr19:8174153C>A	ENST00000600128.1	-	36	4990	c.4576G>T	c.(4576-4578)Gct>Tct	p.A1526S	FBN3_ENST00000270509.2_Missense_Mutation_p.A1526S|FBN3_ENST00000601739.1_Missense_Mutation_p.A1526S			Q75N90	FBN3_HUMAN	fibrillin 3	1526	TB 6.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTGCCCCAAGCCCGGCCCAGG	0.627																																																	0			19											64.0	58.0	60.0					19																	8174153		2203	4300	6503	8080153	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4576G>T	19.37:g.8174153C>A	ENSP00000470498:p.Ala1526Ser		8080153	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581611	0.65992	.	.	ENSG00000142449	ENST00000270509	D	0.95518	-3.73	4.23	4.23	0.50019	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	U	0.000000	D	0.97663	0.9234	M	0.82630	2.6	0.80722	D	1	D	0.62365	0.991	D	0.83275	0.996	D	0.98268	1.0502	10	0.56958	D	0.05	.	16.5549	0.84482	0.0:1.0:0.0:0.0	.	1526	Q75N90	FBN3_HUMAN	S	1526	ENSP00000270509:A1526S	ENSP00000270509:A1526S	A	-	1	0	FBN3	8080153	1.000000	0.71417	0.999000	0.59377	0.160000	0.22226	7.351000	0.79395	2.068000	0.61886	0.313000	0.20887	GCT		0.627	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
ATG4D	84971	hgsc.bcm.edu	37	19	10659630	10659630	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr19:10659630G>A	ENST00000309469.4	+	6	1059	c.886G>A	c.(886-888)Gag>Aag	p.E296K	ATG4D_ENST00000540862.1_Intron|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	296					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCCCACAGCCGAGTGGAAGTC	0.617																																																	0			19											105.0	82.0	90.0					19																	10659630		2203	4300	6503	10520630	SO:0001583	missense	84971			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.886G>A	19.37:g.10659630G>A	ENSP00000311318:p.Glu296Lys		10520630	Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433596	0.43224	.	.	ENSG00000130734	ENST00000309469	T	0.42900	0.96	5.56	5.56	0.83823	.	0.359311	0.30820	N	0.008816	T	0.29914	0.0748	L	0.31664	0.95	0.80722	D	1	B;P	0.34837	0.307;0.472	B;B	0.30855	0.069;0.121	T	0.09185	-1.0686	10	0.07644	T	0.81	-5.0892	18.2767	0.90085	0.0:0.0:1.0:0.0	.	233;296	B4DGM8;Q86TL0	.;ATG4D_HUMAN	K	296	ENSP00000311318:E296K	ENSP00000311318:E296K	E	+	1	0	ATG4D	10520630	0.792000	0.28813	0.967000	0.41034	0.934000	0.57294	2.421000	0.44688	2.626000	0.88956	0.549000	0.68633	GAG		0.617	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885	
ZNF493	284443	hgsc.bcm.edu	37	19	21587986	21587986	+	Intron	SNP	G	G	A	rs181874152		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr19:21587986G>A	ENST00000355504.4	+	1	135				ZNF493_ENST00000339914.6_Missense_Mutation_p.C29Y|ZNF493_ENST00000596302.1_Missense_Mutation_p.C29Y|ZNF493_ENST00000594390.1_Missense_Mutation_p.C29Y|CTD-2561J22.3_ENST00000600810.1_Missense_Mutation_p.C9Y|ZNF493_ENST00000392288.2_Missense_Mutation_p.C29Y	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493						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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAGTGGCAATGCCTGGACACT	0.433																																																	0			19											103.0	109.0	107.0					19																	21587986		2203	4300	6503	21379826	SO:0001627	intron_variant	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.-132+7917G>A	19.37:g.21587986G>A			21379826	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	6.345	0.431675	0.12045	.	.	ENSG00000196268	ENST00000392288;ENST00000339914	T;T	0.01767	4.65;4.65	1.14	-2.28	0.06826	.	.	.	.	.	T	0.02047	0.0064	L	0.52206	1.635	0.09310	N	1	B;P	0.39601	0.379;0.68	B;B	0.40982	0.031;0.345	T	0.37150	-0.9718	9	0.66056	D	0.02	.	1.9101	0.03285	0.2387:0.0:0.4533:0.308	.	29;29	Q6ZR52-2;G5E974	.;.	Y	29	ENSP00000376110:C29Y;ENSP00000340651:C29Y	ENSP00000340651:C29Y	C	+	2	0	ZNF493	21379826	0.006000	0.16342	0.110000	0.21437	0.022000	0.10575	-0.401000	0.07232	-0.546000	0.06216	-0.474000	0.04947	TGC		0.433	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
CEBPA	1050	hgsc.bcm.edu	37	19	33792390	33792390	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr19:33792390G>A	ENST00000498907.2	-	1	1080	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	311	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R306fs*48(3)|p.T310_Q311insS(2)|p.T310_Q311insT(2)|p.T310_Q311insV(2)|p.T310_Q311insET(2)|p.Q311*(1)|p.H200_K352>Q(1)|p.?(1)|p.T310_Q312>K(1)|p.Q311>PQ(1)|p.T310_Q311insGGQT(1)|p.N307_Q312del(1)|p.Q311del(1)|p.T310_Q311del(1)|p.T310_Q311insKQ(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					ACCTTCTGCTGCGTCTCCACG	0.647			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																															Dom	yes		19	19q13.1	1050	"""CCAAT/enhancer binding protein (C/EBP), alpha"""		L	21	Insertion - In frame(10)|Complex - deletion inframe(5)|Deletion - In frame(3)|Substitution - Nonsense(1)|Unknown(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(21)	19											53.0	54.0	54.0					19																	33792390		2203	4300	6503	38484230	SO:0001587	stop_gained	1050	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"""basic leucine zipper proteins"""	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.931C>T	19.37:g.33792390G>A	ENSP00000427514:p.Gln311*		38484230	A7LNP2|P78319|Q05CA4	Nonsense_Mutation	SNP	ENST00000498907.2	37	CCDS54243.1	.	.	.	.	.	.	.	.	.	.	G	38	7.103821	0.98066	.	.	ENSG00000245848	ENST00000498907	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.6187	0.84924	0.0:0.0:1.0:0.0	.	.	.	.	X	311	.	ENSP00000427514:Q311X	Q	-	1	0	CEBPA	38484230	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.914000	0.87478	2.133000	0.65898	0.462000	0.41574	CAG		0.647	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365012.1	NM_004364	
KIRREL2	84063	hgsc.bcm.edu	37	19	36351228	36351228	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr19:36351228C>T	ENST00000360202.5	+	6	901	c.703C>T	c.(703-705)Cca>Tca	p.P235S	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P235S|KIRREL2_ENST00000262625.7_Missense_Mutation_p.P235S|KIRREL2_ENST00000347900.6_Missense_Mutation_p.P185S	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	235	Ig-like C2-type 3.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCTGCTTCGCCACACACTGT	0.602																																																	0			19											76.0	61.0	66.0					19																	36351228		2203	4300	6503	41043068	SO:0001583	missense	84063			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.703C>T	19.37:g.36351228C>T	ENSP00000353331:p.Pro235Ser		41043068	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733144	0.69189	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.15256	2.44;2.44;2.44	3.86	3.86	0.44501	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41605	D	0.000848	T	0.43590	0.1254	M	0.85630	2.765	0.45097	D	0.998114	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.995;0.992;0.999;0.998;0.998	T	0.47129	-0.9141	10	0.62326	D	0.03	-10.0435	11.5369	0.50643	0.0:1.0:0.0:0.0	.	235;215;235;185;235	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	S	235;185;235;215	ENSP00000262625:P235S;ENSP00000345067:P185S;ENSP00000353331:P235S	ENSP00000262625:P235S	P	+	1	0	KIRREL2	41043068	1.000000	0.71417	0.999000	0.59377	0.502000	0.33828	6.514000	0.73746	2.182000	0.69389	0.449000	0.29647	CCA		0.602	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	
ZNF585B	92285	hgsc.bcm.edu	37	19	37678049	37678049	+	Silent	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr19:37678049A>G	ENST00000532828.2	-	5	641	c.390T>C	c.(388-390)taT>taC	p.Y130Y	ZNF585B_ENST00000527838.1_Silent_p.Y130Y|ZNF585B_ENST00000531805.1_Silent_p.Y75Y|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'Flank	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGCACACTCATAGGATTTTT	0.368																																					Melanoma(93;882 1454 18863 28917 48427)												0			19											67.0	71.0	69.0					19																	37678049		2202	4300	6502	42369889	SO:0001819	synonymous_variant	92285			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.390T>C	19.37:g.37678049A>G			42369889	Q8IZD3|Q96JW6	Silent	SNP	ENST00000532828.2	37	CCDS12500.1																																																																																				0.368	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279	
ZNF222	7673	hgsc.bcm.edu	37	19	44536079	44536079	+	Silent	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr19:44536079A>G	ENST00000187879.8	+	4	414	c.252A>G	c.(250-252)caA>caG	p.Q84Q	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Silent_p.Q124Q	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q84H(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				CCAGGTCTCAAGATACCACCA	0.403																																																	1	Substitution - Missense(1)	ovary(1)	19											105.0	103.0	104.0					19																	44536079		2203	4300	6503	49227919	SO:0001819	synonymous_variant	7673			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.252A>G	19.37:g.44536079A>G			49227919	G5E9B9|Q8N6G7|Q9P1U5	Silent	SNP	ENST00000187879.8	37	CCDS33045.1																																																																																				0.403	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2		
USP29	57663	hgsc.bcm.edu	37	19	57642200	57642200	+	Silent	SNP	A	A	G	rs562830906		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr19:57642200A>G	ENST00000254181.4	+	4	2611	c.2157A>G	c.(2155-2157)aaA>aaG	p.K719K	USP29_ENST00000598197.1_Silent_p.K719K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	719	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGACTGTAAAGAAAACAGGA	0.423																																																	0			19											73.0	71.0	72.0					19																	57642200		2203	4300	6503	62334012	SO:0001819	synonymous_variant	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2157A>G	19.37:g.57642200A>G			62334012		Silent	SNP	ENST00000254181.4	37	CCDS33124.1																																																																																				0.423	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
MSR1	4481	hgsc.bcm.edu	37	8	16007743	16007743	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr8:16007743G>A	ENST00000262101.5	-	7	1097	c.976C>T	c.(976-978)Cca>Tca	p.P326S	MSR1_ENST00000355282.2_Missense_Mutation_p.P326S|MSR1_ENST00000445506.2_Missense_Mutation_p.P344S|MSR1_ENST00000381998.4_Missense_Mutation_p.P326S|MSR1_ENST00000536385.1_Missense_Mutation_p.P100S|MSR1_ENST00000350896.3_Missense_Mutation_p.P326S			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	326	Collagen-like.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTAATACCTGGCCTTCCGGCA	0.343																																																	0			8											32.0	33.0	33.0					8																	16007743		2203	4298	6501	16052114	SO:0001583	missense	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.976C>T	8.37:g.16007743G>A	ENSP00000262101:p.Pro326Ser		16052114	D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	8.290	0.817432	0.16607	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	D;T;T;D;D;D;D	0.96587	-4.06;2.39;2.39;-4.06;-2.65;-4.06;-4.06	4.38	-0.613	0.11594	.	0.672540	0.13592	N	0.376552	D	0.92446	0.7602	M	0.62209	1.925	0.20074	N	0.999931	B;B;B;B;B	0.17465	0.001;0.022;0.001;0.01;0.012	B;B;B;B;B	0.15052	0.002;0.012;0.003;0.011;0.006	T	0.79822	-0.1641	10	0.12103	T	0.63	.	6.3327	0.21279	0.0979:0.0:0.3137:0.5884	.	100;344;326;326;326	F5GZJ2;B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;.;MSRE_HUMAN	S	326;326;344;326;116;326;100	ENSP00000262100:P326S;ENSP00000262101:P326S;ENSP00000405453:P344S;ENSP00000347430:P326S;ENSP00000430536:P116S;ENSP00000371428:P326S;ENSP00000444414:P100S	ENSP00000262101:P326S	P	-	1	0	MSR1	16052114	0.010000	0.17322	0.062000	0.19696	0.386000	0.30323	-0.279000	0.08479	-0.277000	0.09193	0.650000	0.86243	CCA		0.343	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2		
ASH2L	9070	hgsc.bcm.edu	37	8	37985835	37985835	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr8:37985835C>T	ENST00000343823.6	+	11	1501	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	ASH2L_ENST00000428278.2_Missense_Mutation_p.R304W|ASH2L_ENST00000545394.1_Missense_Mutation_p.R259W|ASH2L_ENST00000521652.1_Missense_Mutation_p.R304W|ASH2L_ENST00000250635.7_Missense_Mutation_p.R304W	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	398	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CTCAGATGACCGGCTGACTGT	0.478																																																	0			8											60.0	55.0	57.0					8																	37985835		2203	4300	6503	38104992	SO:0001583	missense	9070			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1192C>T	8.37:g.37985835C>T	ENSP00000340896:p.Arg398Trp		38104992	A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813348	0.90707	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.58	5.58	0.84498	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.88522	0.6459	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	D	0.90571	0.4522	10	0.87932	D	0	.	14.3123	0.66424	0.1845:0.8155:0.0:0.0	.	304;398	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	W	398;304;259;304;304	ENSP00000340896:R398W;ENSP00000250635:R304W;ENSP00000443606:R259W;ENSP00000395310:R304W;ENSP00000430259:R304W	ENSP00000250635:R304W	R	+	1	2	ASH2L	38104992	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.924000	0.63418	2.640000	0.89533	0.561000	0.74099	CGG		0.478	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674	
UBR5	51366	hgsc.bcm.edu	37	8	103284867	103284867	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr8:103284867C>T	ENST00000520539.1	-	48	7469	c.6863G>A	c.(6862-6864)gGc>gAc	p.G2288D	UBR5_ENST00000518205.1_Missense_Mutation_p.G17D|UBR5_ENST00000521922.1_Missense_Mutation_p.G2282D|UBR5_ENST00000220959.4_Missense_Mutation_p.G2288D	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2288					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.G2288D(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TACACCACTGCCCTCTCCTGG	0.408																																					Ovarian(131;96 1741 5634 7352 27489)												1	Substitution - Missense(1)	central_nervous_system(1)	8											145.0	124.0	131.0					8																	103284867		2203	4300	6503	103354043	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6863G>A	8.37:g.103284867C>T	ENSP00000429084:p.Gly2288Asp		103354043	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209857	0.95069	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922;ENST00000521566	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.44	5.44	0.79542	HECT (1);	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.57522	-0.7797	10	0.87932	D	0	.	19.2658	0.93984	0.0:1.0:0.0:0.0	.	2282;2288	E7EMW7;O95071	.;UBR5_HUMAN	D	2288;2288;17;2282;113	ENSP00000429084:G2288D;ENSP00000220959:G2288D;ENSP00000428693:G17D;ENSP00000427819:G2282D	ENSP00000220959:G2288D	G	-	2	0	UBR5	103354043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.570000	0.86706	0.585000	0.79938	GGC		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
DPYS	1807	hgsc.bcm.edu	37	8	105459696	105459696	+	Silent	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr8:105459696T>C	ENST00000351513.2	-	3	591	c.459A>G	c.(457-459)aaA>aaG	p.K153K		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	153					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGTTAACACCTTTATCTTGCA	0.368																																																	0			8											123.0	112.0	116.0					8																	105459696		2203	4300	6503	105528872	SO:0001819	synonymous_variant	1807			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.459A>G	8.37:g.105459696T>C			105528872		Silent	SNP	ENST00000351513.2	37	CCDS6302.1																																																																																				0.368	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385	
TRPS1	7227	hgsc.bcm.edu	37	8	116616327	116616327	+	Silent	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr8:116616327C>T	ENST00000220888.5	-	3	1989	c.1830G>A	c.(1828-1830)tcG>tcA	p.S610S	TRPS1_ENST00000519674.1_Silent_p.S610S|TRPS1_ENST00000520276.1_Silent_p.S614S|TRPS1_ENST00000395715.3_Silent_p.S623S|TRPS1_ENST00000519076.1_Intron			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	610					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTTTGACTCGCGAGCTTCCAG	0.478									Langer-Giedion syndrome																																								0			8											67.0	68.0	68.0					8																	116616327		2024	4184	6208	116685502	SO:0001819	synonymous_variant	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1830G>A	8.37:g.116616327C>T			116685502	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37																																																																																					0.478	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
ZBTB48	3104	hgsc.bcm.edu	37	1	6648899	6648899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:6648899C>T	ENST00000377674.4	+	10	1923	c.1765C>T	c.(1765-1767)Cga>Tga	p.R589*		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	589					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CAAGTTTACCCGACAGGTAGG	0.627																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)												0			1											80.0	87.0	85.0					1																	6648899		2203	4300	6503	6571486	SO:0001587	stop_gained	3104			BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1765C>T	1.37:g.6648899C>T	ENSP00000366902:p.Arg589*		6571486	Q5SY19	Nonsense_Mutation	SNP	ENST00000377674.4	37	CCDS84.1	.	.	.	.	.	.	.	.	.	.	C	36	5.806574	0.96967	.	.	ENSG00000204859	ENST00000377674	.	.	.	5.52	4.6	0.57074	.	0.109170	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-16.5962	13.1713	0.59599	0.0:0.9222:0.0:0.0778	.	.	.	.	X	589	.	ENSP00000366902:R589X	R	+	1	2	ZBTB48	6571486	0.983000	0.35010	0.909000	0.35828	0.123000	0.20343	2.632000	0.46511	1.479000	0.48272	0.655000	0.94253	CGA		0.627	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341	
YBX1	4904	hgsc.bcm.edu	37	1	43162403	43162403	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:43162403C>A	ENST00000321358.7	+	5	584	c.445C>A	c.(445-447)Cca>Aca	p.P149T	YBX1_ENST00000467957.1_3'UTR	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	149					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TAGACGCTATCCACGTCGTAG	0.517																																																	0			1											76.0	78.0	77.0					1																	43162403		2203	4300	6503	42934990	SO:0001583	missense	4904			BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"""nuclease sensitive element binding protein 1"""	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.445C>A	1.37:g.43162403C>A	ENSP00000361626:p.Pro149Thr		42934990	P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	ENST00000321358.7	37	CCDS470.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218003	0.79352	.	.	ENSG00000065978	ENST00000321358;ENST00000332220;ENST00000318612	T;T	0.34859	1.34;1.34	5.24	5.24	0.73138	.	0.094233	0.85682	D	0.000000	T	0.41627	0.1167	M	0.79011	2.435	0.58432	D	0.999998	P	0.37781	0.608	B	0.36534	0.227	T	0.33701	-0.9858	10	0.23891	T	0.37	-0.5043	16.6713	0.85267	0.0:1.0:0.0:0.0	.	149	P67809	YBOX1_HUMAN	T	149;119;145	ENSP00000361626:P149T;ENSP00000405937:P119T	ENSP00000361621:P145T	P	+	1	0	YBX1	42934990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.256000	0.78350	2.600000	0.87896	0.563000	0.77884	CCA		0.517	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559	
C1orf177	163747	hgsc.bcm.edu	37	1	55277491	55277491	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:55277491T>A	ENST00000371273.3	+	5	520	c.505T>A	c.(505-507)Tat>Aat	p.Y169N	C1orf177_ENST00000358193.3_Missense_Mutation_p.Y169N	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	169										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CCCTGGAAATTATGGGGAGAA	0.577																																																	0			1											54.0	52.0	53.0					1																	55277491		2203	4300	6503	55050079	SO:0001583	missense	163747			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.505T>A	1.37:g.55277491T>A	ENSP00000360320:p.Tyr169Asn		55050079	B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.781851	0.70222	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.26957	1.7;1.7	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000013	T	0.48624	0.1510	M	0.71581	2.175	0.50632	D	0.999882	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51364	-0.8715	10	0.87932	D	0	-1.3074	11.5217	0.50555	0.0:0.0:0.0:1.0	.	169;169	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	N	169	ENSP00000350924:Y169N;ENSP00000360320:Y169N	ENSP00000350924:Y169N	Y	+	1	0	C1orf177	55050079	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.131000	0.57970	2.033000	0.60031	0.454000	0.30748	TAT		0.577	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607	
PRKAA2	5563	hgsc.bcm.edu	37	1	57173243	57173243	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:57173243A>G	ENST00000371244.4	+	9	1582	c.1516A>G	c.(1516-1518)Act>Gct	p.T506A		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	506					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.T506A(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TGATTCCACAACTGCAGAGAG	0.493																																																	2	Substitution - Missense(2)	ovary(2)	1											164.0	154.0	157.0					1																	57173243		2203	4300	6503	56945831	SO:0001583	missense	5563			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1516A>G	1.37:g.57173243A>G	ENSP00000360290:p.Thr506Ala		56945831	Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	CCDS605.1	.	.	.	.	.	.	.	.	.	.	A	0.839	-0.742599	0.03088	.	.	ENSG00000162409	ENST00000371244	T	0.08807	3.05	5.99	0.865	0.19074	.	0.281293	0.40554	N	0.001066	T	0.02649	0.0080	N	0.08118	0	0.25119	N	0.990655	B	0.02656	0.0	B	0.01281	0.0	T	0.42172	-0.9467	10	0.08179	T	0.78	-11.4974	2.157	0.03814	0.4817:0.1211:0.2802:0.117	.	506	P54646	AAPK2_HUMAN	A	506	ENSP00000360290:T506A	ENSP00000360290:T506A	T	+	1	0	PRKAA2	56945831	0.004000	0.15560	0.005000	0.12908	0.506000	0.33950	0.640000	0.24705	0.159000	0.19401	-1.054000	0.02325	ACT		0.493	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	
USP33	23032	hgsc.bcm.edu	37	1	78207427	78207427	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:78207427G>A	ENST00000370793.1	-	3	395	c.49C>T	c.(49-51)Cct>Tct	p.P17S	USP33_ENST00000370794.3_5'UTR|USP33_ENST00000357428.1_Missense_Mutation_p.P17S|USP33_ENST00000370792.3_Missense_Mutation_p.P17S|USP33_ENST00000528150.1_5'UTR	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	17					axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TCAAAATGAGGTAACACCTAT	0.279																																					Melanoma(152;72 1870 11110 26780 42647)												0			1											30.0	32.0	31.0					1																	78207427		2203	4290	6493	77980015	SO:0001583	missense	23032			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.49C>T	1.37:g.78207427G>A	ENSP00000359829:p.Pro17Ser		77980015	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060308	0.36373	.	.	ENSG00000077254	ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536;ENST00000530709	T;T;T;T	0.28255	3.05;3.05;3.05;1.62	5.61	4.68	0.58851	.	.	.	.	.	T	0.06234	0.0161	N	0.08118	0	0.22050	N	0.999395	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.001	T	0.24621	-1.0155	9	0.23302	T	0.38	.	9.6012	0.39605	0.1226:0.1261:0.7513:0.0	.	17;17	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	S	17	ENSP00000359829:P17S;ENSP00000350009:P17S;ENSP00000359828:P17S;ENSP00000434441:P17S	ENSP00000350009:P17S	P	-	1	0	USP33	77980015	0.592000	0.26832	0.988000	0.46212	0.787000	0.44495	1.178000	0.31981	2.812000	0.96745	0.557000	0.71058	CCT		0.279	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017	
NRAS	4893	hgsc.bcm.edu	37	1	115258747	115258747	+	Missense_Mutation	SNP	C	C	T	rs121913237		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:115258747C>T	ENST00000369535.4	-	2	288	c.35G>A	c.(34-36)gGt>gAt	p.G12D	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	12			G -> C (in leukemia). {ECO:0000269|PubMed:2998510}.|G -> D (in KNEN). {ECO:0000269|PubMed:22499344}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(375)|p.G12V(59)|p.G12A(42)|p.G12N(2)|p.G12E(1)|p.G12P(1)|p.G12Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAACACCACCTGCTCCAAC	0.493	G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																														Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	481	Substitution - Missense(481)	haematopoietic_and_lymphoid_tissue(375)|skin(59)|large_intestine(21)|testis(5)|thyroid(4)|central_nervous_system(3)|endometrium(3)|biliary_tract(3)|ovary(3)|soft_tissue(2)|lung(2)|prostate(1)	1						C	ASP/GLY	0,4406		0,0,2203	206.0	184.0	191.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	35	5.6	1.0	1	dbSNP_133	191	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRAS	NM_002524.4	94	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/190	115258747	1,13005	2203	4300	6503	115060270	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.35G>A	1.37:g.115258747C>T	ENSP00000358548:p.Gly12Asp		115060270	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	C	35	5.524414	0.96431	0.0	1.16E-4	ENSG00000213281	ENST00000369535	T	0.78595	-1.19	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000025	D	0.85252	0.5654	M	0.92604	3.325	0.80722	D	1	B	0.32467	0.372	B	0.42827	0.399	D	0.86173	0.1601	10	0.87932	D	0	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	12	P01111	RASN_HUMAN	D	12	ENSP00000358548:G12D	ENSP00000358548:G12D	G	-	2	0	NRAS	115060270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT		0.493	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524	
VANGL1	81839	hgsc.bcm.edu	37	1	116206712	116206712	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:116206712G>A	ENST00000355485.2	+	4	906	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	VANGL1_ENST00000369509.1_Missense_Mutation_p.R212Q|VANGL1_ENST00000369510.4_Missense_Mutation_p.R210Q|VANGL1_ENST00000310260.3_Missense_Mutation_p.R212Q	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	212					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTGGACTCTCGGGACCGGAAT	0.517																																																	0			1											195.0	197.0	196.0					1																	116206712		2203	4300	6503	116008235	SO:0001583	missense	81839			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.635G>A	1.37:g.116206712G>A	ENSP00000347672:p.Arg212Gln		116008235	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	CCDS883.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274091	0.40194	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.73	4.82	0.62117	.	0.120688	0.64402	D	0.000018	T	0.51449	0.1675	N	0.25890	0.77	0.39974	D	0.974838	B;B	0.15930	0.012;0.015	B;B	0.15052	0.007;0.012	T	0.50939	-0.8768	10	0.21014	T	0.42	2.8345	9.7263	0.40333	0.197:0.0:0.803:0.0	.	210;212	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	Q	212;210;212;212	ENSP00000347672:R212Q;ENSP00000358523:R210Q;ENSP00000310800:R212Q;ENSP00000358522:R212Q	ENSP00000310800:R212Q	R	+	2	0	VANGL1	116008235	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	4.819000	0.62664	1.582000	0.49881	-0.142000	0.14014	CGG		0.517	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1		
ADAM30	11085	hgsc.bcm.edu	37	1	120438740	120438740	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:120438740C>T	ENST00000369400.1	-	1	378	c.220G>A	c.(220-222)Gtc>Atc	p.V74I		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	74					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAATGGAGGACGTGCTTCTTG	0.532																																																	0			1											86.0	78.0	80.0					1																	120438740		2203	4300	6503	120240263	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.220G>A	1.37:g.120438740C>T	ENSP00000358407:p.Val74Ile		120240263	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211325	0.39102	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.06528	3.29	4.75	1.75	0.24633	Peptidase M12B, propeptide (1);	0.204212	0.24211	N	0.040530	T	0.01222	0.0040	L	0.28504	0.86	0.09310	N	1	P	0.42375	0.778	B	0.38921	0.285	T	0.47535	-0.9110	10	0.18710	T	0.47	.	4.984	0.14180	0.0:0.6301:0.1749:0.1951	.	74	Q9UKF2	ADA30_HUMAN	I	74	ENSP00000358407:V74I	ENSP00000358407:V74I	V	-	1	0	ADAM30	120240263	0.000000	0.05858	0.004000	0.12327	0.681000	0.39784	-0.505000	0.06367	0.597000	0.29811	0.455000	0.32223	GTC		0.532	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
NOTCH2	4853	hgsc.bcm.edu	37	1	120466369	120466369	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:120466369G>T	ENST00000256646.2	-	26	4969	c.4750C>A	c.(4750-4752)Cag>Aag	p.Q1584K	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1584	Negative regulatory region (NRR).				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|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)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.Q1584*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTCCCCCTGGGAGTCCCGC	0.542			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - Nonsense(1)	lung(1)	1											86.0	84.0	85.0					1																	120466369		2203	4300	6503	120267892	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4750C>A	1.37:g.120466369G>T	ENSP00000256646:p.Gln1584Lys		120267892	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	0.248	-1.008605	0.02112	.	.	ENSG00000134250	ENST00000256646	D	0.85171	-1.95	5.94	4.08	0.47627	Notch, NOD domain (1);	0.000000	0.35903	U	0.002913	T	0.48677	0.1513	N	0.24115	0.695	0.31239	N	0.695464	B	0.33777	0.425	B	0.31812	0.136	T	0.44726	-0.9309	10	0.06236	T	0.91	.	6.2596	0.20893	0.0701:0.1331:0.6586:0.1382	.	1584	Q04721	NOTC2_HUMAN	K	1584	ENSP00000256646:Q1584K	ENSP00000256646:Q1584K	Q	-	1	0	NOTCH2	120267892	0.980000	0.34600	0.814000	0.32528	0.266000	0.26442	1.880000	0.39628	0.863000	0.35553	-0.268000	0.10319	CAG		0.542	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
NBPF10	100132406	hgsc.bcm.edu	37	1	145367800	145367800	+	Missense_Mutation	SNP	G	G	A	rs201525063		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:145367800G>A	ENST00000342960.5	+	83	10431	c.10396G>A	c.(10396-10398)Gat>Aat	p.D3466N	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	761						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.D3466N(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aggggaagaagaTCAAAACCC	0.428																																																	1	Substitution - Missense(1)	endometrium(1)	1																																								144079157	SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10396G>A	1.37:g.145367800G>A	ENSP00000345684:p.Asp3466Asn		144079157	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	9.745	1.165911	0.21538	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.09723	2.95	.	.	.	.	.	.	.	.	T	0.11067	0.0270	M	0.85197	2.74	0.09310	N	1	.	.	.	.	.	.	T	0.11891	-1.0569	5	0.59425	D	0.04	.	.	.	.	.	.	.	.	N	586;3466	ENSP00000345684:D3466N	ENSP00000345684:D3466N	D	+	1	0	NBPF10	144079157	0.020000	0.18652	0.199000	0.23439	0.199000	0.23934	0.885000	0.28227	0.162000	0.19483	0.165000	0.16767	GAT		0.428	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
ASH1L	55870	hgsc.bcm.edu	37	1	155491264	155491264	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:155491264T>C	ENST00000368346.3	-	2	686	c.47A>G	c.(46-48)gAa>gGa	p.E16G	ASH1L_ENST00000548830.1_Missense_Mutation_p.E16G|ASH1L_ENST00000392403.3_Missense_Mutation_p.E16G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	16					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGAAAAACCTTCGGAATCAGA	0.398																																																	0			1											169.0	165.0	166.0					1																	155491264		2203	4300	6503	153757888	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.47A>G	1.37:g.155491264T>C	ENSP00000357330:p.Glu16Gly		153757888	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	T	24.9	4.579297	0.86645	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.91521	-2.86;-2.86	6.03	6.03	0.97812	.	0.064498	0.64402	D	0.000017	T	0.75874	0.3909	N	0.08118	0	0.43569	D	0.995899	P;P	0.37330	0.455;0.59	B;B	0.37239	0.123;0.244	T	0.83257	-0.0050	10	0.87932	D	0	.	14.8022	0.69924	0.0:0.0:0.0:1.0	.	16;16	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	G	16	ENSP00000357330:E16G;ENSP00000376204:E16G	ENSP00000357330:E16G	E	-	2	0	ASH1L	153757888	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.721000	0.68477	2.313000	0.78055	0.455000	0.32223	GAA		0.398	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
FCRL4	83417	hgsc.bcm.edu	37	1	157559005	157559005	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:157559005A>G	ENST00000271532.1	-	3	431	c.296T>C	c.(295-297)cTc>cCc	p.L99P	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	99					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L99R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGAAGAAAAGAGCAAGCGCAC	0.493																																																	1	Substitution - Missense(1)	ovary(1)	1											63.0	68.0	66.0					1																	157559005		2203	4300	6503	155825629	SO:0001583	missense	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.296T>C	1.37:g.157559005A>G	ENSP00000271532:p.Leu99Pro		155825629	Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	A	8.570	0.879827	0.17467	.	.	ENSG00000163518	ENST00000271532	T	0.19394	2.15	4.2	-8.41	0.00961	Immunoglobulin subtype (1);	4.121640	0.01047	N	0.004417	T	0.03305	0.0096	L	0.31664	0.95	0.09310	N	1	B	0.22800	0.075	B	0.25759	0.063	T	0.21415	-1.0246	10	0.30078	T	0.28	.	1.5384	0.02550	0.1751:0.115:0.3146:0.3954	.	99	Q96PJ5	FCRL4_HUMAN	P	99	ENSP00000271532:L99P	ENSP00000271532:L99P	L	-	2	0	FCRL4	155825629	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-2.190000	0.01247	-1.651000	0.01504	-0.410000	0.06199	CTC		0.493	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282	
SPTA1	6708	hgsc.bcm.edu	37	1	158609792	158609792	+	Silent	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:158609792T>C	ENST00000368147.4	-	34	4923	c.4743A>G	c.(4741-4743)caA>caG	p.Q1581Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1581					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q1581H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTGTTCCAGTTGCTCCTAAC	0.473																																																	1	Substitution - Missense(1)	breast(1)	1											165.0	147.0	153.0					1																	158609792		1936	4144	6080	156876416	SO:0001819	synonymous_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4743A>G	1.37:g.158609792T>C			156876416	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																				0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
FCRL6	343413	hgsc.bcm.edu	37	1	159783322	159783322	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:159783322G>T	ENST00000368106.3	+	7	1054	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	FCRL6_ENST00000321935.6_Missense_Mutation_p.E358D|FCRL6_ENST00000339348.5_Missense_Mutation_p.E351D|FCRL6_ENST00000392235.3_Missense_Mutation_p.E256D	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	351						external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CAGGTGGAGAGCAGTGCCCAC	0.557																																																	0			1											113.0	101.0	105.0					1																	159783322		2203	4300	6503	158049946	SO:0001583	missense	343413			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.1053G>T	1.37:g.159783322G>T	ENSP00000357086:p.Glu351Asp		158049946	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	ENST00000368106.3	37	CCDS30912.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007244	0.35415	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000392235;ENST00000368106	T;T;T;T	0.01126	5.37;5.31;5.68;5.3	3.94	2.05	0.26809	.	.	.	.	.	T	0.00552	0.0018	L	0.27053	0.805	0.09310	N	1	D;D;P;D	0.54207	0.965;0.965;0.9;0.965	P;P;B;P	0.50352	0.558;0.638;0.227;0.558	T	0.54057	-0.8350	9	0.27785	T	0.31	.	6.2205	0.20679	0.2323:0.0:0.7677:0.0	.	351;256;351;358	Q6DN72-3;Q6DN72-4;Q6DN72;Q6DN72-2	.;.;FCRL6_HUMAN;.	D	358;351;256;351	ENSP00000320625:E358D;ENSP00000340949:E351D;ENSP00000376068:E256D;ENSP00000357086:E351D	ENSP00000320625:E358D	E	+	3	2	FCRL6	158049946	0.077000	0.21312	0.060000	0.19600	0.005000	0.04900	1.255000	0.32909	0.451000	0.26802	-0.258000	0.10820	GAG		0.557	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310	
DCAF6	55827	hgsc.bcm.edu	37	1	168032997	168032997	+	Splice_Site	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:168032997G>A	ENST00000312263.6	+	15	2370	c.2166G>A	c.(2164-2166)atG>atA	p.M722I	DCAF6_ENST00000367840.3_Splice_Site_p.M813I|DCAF6_ENST00000432587.2_Splice_Site_p.M782I|DCAF6_ENST00000367843.3_Splice_Site_p.M742I	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	722					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)			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						CCAGGACAATGGTACCAAATG	0.363																																																	0			1											93.0	92.0	92.0					1																	168032997		2203	4300	6503	166299621	SO:0001630	splice_region_variant	0			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.2166+1G>A	1.37:g.168032997G>A			166299621	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953377	0.73902	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.084494	0.85682	D	0.000000	D	0.84165	0.5412	L	0.58101	1.795	.	.	.	B;B;B;B;D	0.56968	0.005;0.402;0.028;0.264;0.978	B;B;B;B;D	0.65684	0.035;0.17;0.159;0.235;0.937	T	0.79067	-0.1955	9	0.20046	T	0.44	.	19.7122	0.96100	0.0:0.0:1.0:0.0	.	782;395;813;722;742	B4DNB8;Q9P0U0;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;.;DCAF6_HUMAN;.	I	742;782;722;813	ENSP00000356817:M742I;ENSP00000396238:M782I;ENSP00000311949:M722I;ENSP00000356814:M813I	ENSP00000311949:M722I	M	+	3	0	DCAF6	166299621	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.296000	0.96104	2.681000	0.91329	0.561000	0.74099	ATG		0.363	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442	Missense_Mutation
CACNA1E	777	hgsc.bcm.edu	37	1	181727109	181727109	+	Silent	SNP	C	C	T	rs571237279		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:181727109C>T	ENST00000367573.2	+	31	4356	c.4356C>T	c.(4354-4356)agC>agT	p.S1452S	CACNA1E_ENST00000526775.1_Silent_p.S1433S|CACNA1E_ENST00000357570.5_Silent_p.S1403S|CACNA1E_ENST00000367570.1_Silent_p.S1452S|CACNA1E_ENST00000360108.3_Silent_p.S1433S|CACNA1E_ENST00000358338.5_Silent_p.S1384S|CACNA1E_ENST00000367567.4_Silent_p.S1059S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1452					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCGCCATCAGCGCCAAACCTC	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19615	0.0		0.0	False		,,,				2504	0.0																0			1											147.0	153.0	151.0					1																	181727109		2139	4233	6372	179993732	SO:0001819	synonymous_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4356C>T	1.37:g.181727109C>T			179993732	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
HMCN1	83872	hgsc.bcm.edu	37	1	186059939	186059939	+	Silent	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:186059939T>C	ENST00000271588.4	+	64	10006	c.9777T>C	c.(9775-9777)ctT>ctC	p.L3259L	HMCN1_ENST00000367492.2_Silent_p.L3259L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3259	Ig-like C2-type 31.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.L3259L(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAGTGTCCTTCTAGGAGAAA	0.398																																																	1	Substitution - coding silent(1)	ovary(1)	1											131.0	126.0	128.0					1																	186059939		2203	4300	6503	184326562	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9777T>C	1.37:g.186059939T>C			184326562	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	hgsc.bcm.edu	37	1	186121955	186121955	+	Silent	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:186121955G>A	ENST00000271588.4	+	96	15199	c.14970G>A	c.(14968-14970)gtG>gtA	p.V4990V	HMCN1_ENST00000367492.2_Silent_p.V4990V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4990	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATCGTTGTGAGTGGCTATG	0.428																																																	0			1											237.0	206.0	216.0					1																	186121955		2203	4300	6503	184388578	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14970G>A	1.37:g.186121955G>A			184388578	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
CRB1	23418	hgsc.bcm.edu	37	1	197397061	197397061	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:197397061C>A	ENST00000367400.3	+	7	2741	c.2606C>A	c.(2605-2607)aCa>aAa	p.T869K	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.T800K|CRB1_ENST00000367399.2_Missense_Mutation_p.T757K|CRB1_ENST00000367397.1_Missense_Mutation_p.T250K|CRB1_ENST00000544212.1_Missense_Mutation_p.T350K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	869	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCAAATCCAACAAACAATGCA	0.393																																																	0			1											88.0	82.0	84.0					1																	197397061		2203	4300	6503	195663684	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2606C>A	1.37:g.197397061C>A	ENSP00000356370:p.Thr869Lys		195663684	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	2.081	-0.410741	0.04799	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.79247	-1.25;-0.96;-0.96;-0.96;-0.96	4.98	-0.891	0.10573	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.60483	0.2272	L	0.43701	1.375	0.09310	N	1	B;B;B;B	0.12630	0.006;0.003;0.001;0.001	B;B;B;B	0.11329	0.006;0.004;0.003;0.002	T	0.44452	-0.9327	9	0.05959	T	0.93	.	4.4955	0.11835	0.3113:0.3603:0.0:0.3284	.	800;757;518;869	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	K	800;869;757;350;250;518	ENSP00000438786:T800K;ENSP00000356370:T869K;ENSP00000356369:T757K;ENSP00000444556:T350K;ENSP00000356367:T250K	ENSP00000356367:T250K	T	+	2	0	CRB1	195663684	0.000000	0.05858	0.102000	0.21198	0.032000	0.12392	-0.901000	0.04093	-0.045000	0.13468	0.555000	0.69702	ACA		0.393	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
DDX59	83479	hgsc.bcm.edu	37	1	200619724	200619724	+	Silent	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:200619724A>G	ENST00000331314.6	-	5	1356	c.1143T>C	c.(1141-1143)atT>atC	p.I381I	DDX59_ENST00000447706.2_Silent_p.I381I|DDX59_ENST00000367348.3_Silent_p.I381I	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	381	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTGAAACCAAAATGGTCTGAC	0.368																																																	0			1											99.0	91.0	93.0					1																	200619724		2203	4300	6503	198886347	SO:0001819	synonymous_variant	83479			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1143T>C	1.37:g.200619724A>G			198886347	Q6PJL2|Q8IVW3|Q9H0W3	Silent	SNP	ENST00000331314.6	37	CCDS30964.1																																																																																				0.368	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4	
RCOR3	55758	hgsc.bcm.edu	37	1	211486113	211486113	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:211486113A>G	ENST00000367005.4	+	10	1094	c.953A>G	c.(952-954)aAc>aGc	p.N318S	RCOR3_ENST00000452621.2_Missense_Mutation_p.N376S|RCOR3_ENST00000526255.1_3'UTR|RCOR3_ENST00000367006.4_Intron|RCOR3_ENST00000419091.2_Missense_Mutation_p.N376S	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	318	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.N318S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GTAATTGGCAACAAGACTGTT	0.428																																																	1	Substitution - Missense(1)	ovary(1)	1											116.0	116.0	116.0					1																	211486113		2203	4300	6503	209552736	SO:0001583	missense	55758			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.953A>G	1.37:g.211486113A>G	ENSP00000355972:p.Asn318Ser		209552736	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718337	0.30503	.	.	ENSG00000117625	ENST00000452621;ENST00000419091;ENST00000367005;ENST00000529763	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.22	4.07	0.47477	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.080945	0.85682	D	0.000000	T	0.44726	0.1307	N	0.20986	0.625	0.40443	D	0.980068	P;D;P	0.57571	0.882;0.98;0.931	B;P;P	0.59948	0.414;0.866;0.55	T	0.38067	-0.9678	10	0.41790	T	0.15	-9.4574	12.4824	0.55852	0.8599:0.1401:0.0:0.0	.	376;318;376	Q9P2K3-3;Q9P2K3;Q9P2K3-4	.;RCOR3_HUMAN;.	S	376;376;318;136	ENSP00000398558:N376S;ENSP00000413929:N376S;ENSP00000355972:N318S;ENSP00000437048:N136S	ENSP00000355972:N318S	N	+	2	0	RCOR3	209552736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.141000	0.77330	0.908000	0.36671	0.528000	0.53228	AAC		0.428	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254	
OBSCN	84033	hgsc.bcm.edu	37	1	228494622	228494622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:228494622C>T	ENST00000422127.1	+	45	11991	c.11947C>T	c.(11947-11949)Cga>Tga	p.R3983*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.R4940*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.R1102*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.R1617*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R3983*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3983	Ig-like 41.		R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGGTTCCTCCGAGAGCTGCA	0.652																																																	0			1											11.0	13.0	13.0					1																	228494622		2076	4198	6274	226561245	SO:0001587	stop_gained	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11947C>T	1.37:g.228494622C>T	ENSP00000409493:p.Arg3983*		226561245	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	62	71.054468	0.99992	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.	.	.	5.75	2.5	0.30297	.	0.744078	0.12001	N	0.508834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	9.7265	0.40335	0.611:0.2855:0.1035:0.0	.	.	.	.	X	3983;3983;1617;1102	.	ENSP00000284548:R3983X	R	+	1	2	OBSCN	226561245	0.000000	0.05858	0.034000	0.17996	0.011000	0.07611	-1.013000	0.03645	0.730000	0.32425	0.462000	0.41574	CGA		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
SIPA1L2	57568	hgsc.bcm.edu	37	1	232650410	232650410	+	Missense_Mutation	SNP	C	C	T	rs201202325		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:232650410C>T	ENST00000366630.1	-	2	1034	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V226I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	226					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCAAAAGGGACCATTGCTTTG	0.468																																																	0			1						C	ILE/VAL	0,3762		0,0,1881	101.0	100.0	100.0		676	1.2	0.0	1		100	1,8215		0,1,4107	no	missense	SIPA1L2	NM_020808.3	29	0,1,5988	TT,TC,CC		0.0122,0.0,0.0083	benign	226/1723	232650410	1,11977	1881	4108	5989	230717033	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.676G>A	1.37:g.232650410C>T	ENSP00000355589:p.Val226Ile		230717033	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226787	0.22542	0.0	1.22E-4	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.78364	-1.17;-1.17	5.19	1.24	0.21308	.	0.514786	0.21155	N	0.079253	T	0.55369	0.1916	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45411	-0.9263	10	0.41790	T	0.15	-2.0194	8.9806	0.35964	0.0:0.5661:0.0:0.4339	.	226	Q9P2F8	SI1L2_HUMAN	I	226	ENSP00000355589:V226I;ENSP00000262861:V226I	ENSP00000262861:V226I	V	-	1	0	SIPA1L2	230717033	0.884000	0.30299	0.001000	0.08648	0.971000	0.66376	1.518000	0.35877	0.076000	0.16826	-0.142000	0.14014	GTC		0.468	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
OR14I1	401994	hgsc.bcm.edu	37	1	248844879	248844879	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr1:248844879G>T	ENST00000342623.3	-	1	750	c.727C>A	c.(727-729)Ctc>Atc	p.L243I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ATGACAATGAGCTGGGGGGAG	0.463																																																	0			1											96.0	92.0	93.0					1																	248844879		2203	4300	6503	246911502	SO:0001583	missense	401994				CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.727C>A	1.37:g.248844879G>T	ENSP00000339726:p.Leu243Ile		246911502		Missense_Mutation	SNP	ENST00000342623.3	37	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	14.60	2.583125	0.46006	.	.	ENSG00000189181	ENST00000342623	T	0.43294	0.95	3.36	-1.29	0.09288	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36200	N	0.002722	T	0.52805	0.1757	M	0.80183	2.485	0.09310	N	1	P	0.45827	0.867	P	0.60415	0.874	T	0.44112	-0.9349	10	0.51188	T	0.08	.	3.4928	0.07644	0.4484:0.0:0.3723:0.1792	.	243	A6ND48	O14I1_HUMAN	I	243	ENSP00000339726:L243I	ENSP00000339726:L243I	L	-	1	0	OR14I1	246911502	0.071000	0.21146	0.000000	0.03702	0.183000	0.23260	0.181000	0.16880	-0.186000	0.10533	0.543000	0.68304	CTC		0.463	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734	
TRIM68	55128	hgsc.bcm.edu	37	11	4622019	4622019	+	Silent	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr11:4622019A>G	ENST00000300747.5	-	7	1234	c.945T>C	c.(943-945)cgT>cgC	p.R315R		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	315	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACACGATGAGACGGGAGTAAG	0.498																																																	0			11											78.0	73.0	75.0					11																	4622019		2201	4298	6499	4578595	SO:0001819	synonymous_variant	55128			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.945T>C	11.37:g.4622019A>G			4578595	A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Silent	SNP	ENST00000300747.5	37	CCDS31356.1																																																																																				0.498	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073	
ABCC8	6833	hgsc.bcm.edu	37	11	17429962	17429962	+	Nonsense_Mutation	SNP	G	G	A	rs570388861		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr11:17429962G>A	ENST00000389817.3	-	23	2865	c.2797C>T	c.(2797-2799)Cga>Tga	p.R933*	ABCC8_ENST00000302539.4_Nonsense_Mutation_p.R934*			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	933					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TGGTCCTGTCGGTTCATGAGG	0.537																																																	0			11	GRCh37	CM060771	ABCC8	M							101.0	93.0	95.0					11																	17429962		2200	4293	6493	17386538	SO:0001587	stop_gained	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2797C>T	11.37:g.17429962G>A	ENSP00000374467:p.Arg933*		17386538	A6NMX8|E3UYX6|O75948|Q16583	Nonsense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	41	8.687084	0.98914	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	.	.	.	6.04	3.09	0.35607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	14.4014	0.67050	0.0:0.0:0.6316:0.3684	.	.	.	.	X	933;934;937	.	ENSP00000303960:R934X	R	-	1	2	ABCC8	17386538	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.094000	0.41719	0.396000	0.25283	0.563000	0.77884	CGA		0.537	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	
ANO5	203859	hgsc.bcm.edu	37	11	22294385	22294385	+	Silent	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr11:22294385T>C	ENST00000324559.8	+	19	2402	c.2085T>C	c.(2083-2085)ctT>ctC	p.L695L	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	695					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.L695L(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCTCCTCTTCTTGCTCTCA	0.383																																																	1	Substitution - coding silent(1)	ovary(1)	11											141.0	125.0	130.0					11																	22294385		2203	4300	6503	22250961	SO:0001819	synonymous_variant	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2085T>C	11.37:g.22294385T>C			22250961		Silent	SNP	ENST00000324559.8	37	CCDS31444.1																																																																																				0.383	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
MPPED2	744	hgsc.bcm.edu	37	11	30516995	30516995	+	Silent	SNP	T	T	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr11:30516995T>G	ENST00000358117.5	-	3	506	c.384A>C	c.(382-384)gcA>gcC	p.A128A	MPPED2_ENST00000448418.2_Silent_p.A128A	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	128					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TAACAAGGTCTGCCATGAATT	0.383																																																	0			11											152.0	141.0	144.0					11																	30516995		2202	4299	6501	30473571	SO:0001819	synonymous_variant	744			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.384A>C	11.37:g.30516995T>G			30473571	D3DQZ5|E9PB10|Q59GE6	Silent	SNP	ENST00000358117.5	37	CCDS7870.1																																																																																				0.383	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584	
ACCS	84680	hgsc.bcm.edu	37	11	44104786	44104786	+	Silent	SNP	A	A	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr11:44104786A>T	ENST00000263776.8	+	13	1613	c.1179A>T	c.(1177-1179)tcA>tcT	p.S393S		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	393			S -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CCTATGTCTCAGAAGAGCTTA	0.542																																					Esophageal Squamous(158;148 1889 8077 23160 41213)												0			11											114.0	110.0	111.0					11																	44104786		2203	4300	6503	44061362	SO:0001819	synonymous_variant	84680			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1179A>T	11.37:g.44104786A>T			44061362	B4E219|Q8WUL4|Q96LX5	Silent	SNP	ENST00000263776.8	37	CCDS7907.1																																																																																				0.542	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592	
PTPRJ	5795	hgsc.bcm.edu	37	11	48149353	48149353	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr11:48149353T>C	ENST00000418331.2	+	7	1467	c.1115T>C	c.(1114-1116)gTc>gCc	p.V372A	PTPRJ_ENST00000440289.2_Missense_Mutation_p.V372A	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	372	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		V -> I (in dbSNP:rs2229703).		contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTTTTTGACGTCACCGCTGTG	0.502																																																	0			11											108.0	96.0	100.0					11																	48149353		2201	4298	6499	48105929	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1115T>C	11.37:g.48149353T>C	ENSP00000400010:p.Val372Ala		48105929	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.996182	0.74703	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.60797	0.16;0.16	5.75	5.75	0.90469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66896	0.2836	L	0.43152	1.355	0.09310	N	1	P;D	0.54964	0.587;0.969	P;P	0.62298	0.489;0.9	T	0.60850	-0.7181	9	0.72032	D	0.01	.	12.4582	0.55716	0.0:0.0:0.0:1.0	.	372;372	Q12913;Q6P4H4	PTPRJ_HUMAN;.	A	372	ENSP00000400010:V372A;ENSP00000409733:V372A	ENSP00000278456:V372A	V	+	2	0	PTPRJ	48105929	0.054000	0.20591	0.003000	0.11579	0.186000	0.23388	3.834000	0.55798	2.201000	0.70794	0.533000	0.62120	GTC		0.502	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1		
OR5D18	219438	hgsc.bcm.edu	37	11	55587291	55587291	+	Silent	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr11:55587291T>C	ENST00000333976.4	+	1	206	c.186T>C	c.(184-186)ttT>ttC	p.F62F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F62L(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCATGTACTTTTTCCTCAGCC	0.423																																																	1	Substitution - Missense(1)	ovary(1)	11											257.0	237.0	244.0					11																	55587291		2200	4296	6496	55343867	SO:0001819	synonymous_variant	219438			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.186T>C	11.37:g.55587291T>C			55343867	Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	CCDS31510.1																																																																																				0.423	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952	
OR5M9	390162	hgsc.bcm.edu	37	11	56230864	56230864	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr11:56230864G>A	ENST00000279791.1	-	1	13	c.14C>T	c.(13-15)aCg>aTg	p.T5M		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGTCACATCCGTGAAATTAGG	0.408																																																	0			11											23.0	24.0	24.0					11																	56230864		2201	4296	6497	55987440	SO:0001583	missense	390162			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.14C>T	11.37:g.56230864G>A	ENSP00000279791:p.Thr5Met		55987440	Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920239	0.52653	.	.	ENSG00000150269	ENST00000279791	T	0.04809	3.55	4.79	3.81	0.43845	.	0.000000	0.42821	D	0.000641	T	0.24470	0.0593	M	0.89601	3.045	0.19575	N	0.999962	D	0.89917	1.0	D	0.79784	0.993	T	0.03673	-1.1014	10	0.87932	D	0	-1.3461	11.7726	0.51967	0.0:0.0:0.8234:0.1765	.	5	Q8NGP3	OR5M9_HUMAN	M	5	ENSP00000279791:T5M	ENSP00000279791:T5M	T	-	2	0	OR5M9	55987440	0.143000	0.22626	0.946000	0.38457	0.813000	0.45954	0.515000	0.22801	2.349000	0.79799	0.549000	0.68633	ACG		0.408	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743	
OR5B2	390190	hgsc.bcm.edu	37	11	58190126	58190126	+	Silent	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr11:58190126A>G	ENST00000302581.2	-	1	660	c.609T>C	c.(607-609)ttT>ttC	p.F203F		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAAGATATTAAAGCTTGACA	0.368																																																	0			11											57.0	56.0	57.0					11																	58190126		2201	4295	6496	57946702	SO:0001819	synonymous_variant	390190			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.609T>C	11.37:g.58190126A>G			57946702	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	CCDS31550.1																																																																																				0.368	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566	
NUMA1	4926	hgsc.bcm.edu	37	11	71725052	71725053	+	Missense_Mutation	DNP	GT	GT	AG			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G|T	G|T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr11:71725052_71725053GT>AG	ENST00000393695.3	-	15	3827_3828	c.3496_3497AC>CT	c.(3496-3498)ACt>CTt	p.T1166L	NUMA1_ENST00000358965.6_Missense_Mutation_p.T1166L|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCCCTGCAGAGTCTCCAGAGCA	0.644			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0			11																																								71402700|71402701	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3496_3497delinsAG	11.37:g.71725052_71725053delinsAG	ENSP00000377298:p.Thr1166Leu		71402700|71402701		Missense_Mutation	SNP	ENST00000393695.3	37	CCDS31633.1																																																																																				0.644	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		
P2RY2	5029	hgsc.bcm.edu	37	11	72945451	72945451	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr11:72945451G>A	ENST00000311131.2	+	3	714	c.247G>A	c.(247-249)Gcg>Acg	p.A83T	P2RY2_ENST00000393597.2_Missense_Mutation_p.A83T|P2RY2_ENST00000393596.2_Missense_Mutation_p.A83T	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	83					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TGCACTGTATGCGGCCTCCCT	0.587																																																	0			11											129.0	107.0	114.0					11																	72945451		2200	4293	6493	72623099	SO:0001583	missense	5029			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.247G>A	11.37:g.72945451G>A	ENSP00000310305:p.Ala83Thr		72623099	B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658908	0.67586	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.36699	1.24;1.24;1.24	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.201227	0.43260	D	0.000600	T	0.34861	0.0912	N	0.13272	0.32	0.30952	N	0.724591	P	0.38729	0.644	P	0.46758	0.526	T	0.41734	-0.9492	10	0.59425	D	0.04	.	17.8515	0.88748	0.0:0.0:1.0:0.0	.	83	P41231	P2RY2_HUMAN	T	83	ENSP00000377222:A83T;ENSP00000310305:A83T;ENSP00000377221:A83T	ENSP00000310305:A83T	A	+	1	0	P2RY2	72623099	1.000000	0.71417	0.921000	0.36526	0.922000	0.55478	3.276000	0.51646	2.460000	0.83146	0.650000	0.86243	GCG		0.587	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072	
SORL1	6653	hgsc.bcm.edu	37	11	121461797	121461797	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr11:121461797A>G	ENST00000260197.7	+	31	4430	c.4301A>G	c.(4300-4302)gAc>gGc	p.D1434G	SORL1_ENST00000525532.1_Missense_Mutation_p.D378G|SORL1_ENST00000534286.1_Missense_Mutation_p.D344G|SORL1_ENST00000527934.1_Missense_Mutation_p.D49G|SORL1_ENST00000532694.1_Missense_Mutation_p.D280G	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1434	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGCGTGATGGACACCTGGGTG	0.572											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			11											216.0	192.0	200.0					11																	121461797		2203	4299	6502	120967007	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4301A>G	11.37:g.121461797A>G	ENSP00000260197:p.Asp1434Gly	1511	120967007	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559940	0.45590	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7	5.55	4.43	0.53597	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.169309	0.50627	N	0.000103	D	0.87947	0.6306	N	0.16743	0.435	0.33258	D	0.559396	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.82350	-0.0501	10	0.19590	T	0.45	.	5.9527	0.19255	0.775:0.0:0.0799:0.1451	.	49;1434	E9PKB0;Q92673	.;SORL_HUMAN	G	1434;378;280;344;49	ENSP00000260197:D1434G;ENSP00000434634:D378G;ENSP00000432131:D280G;ENSP00000436447:D344G;ENSP00000435405:D49G	ENSP00000260197:D1434G	D	+	2	0	SORL1	120967007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.686000	0.61700	0.954000	0.37851	0.533000	0.62120	GAC		0.572	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	
TBC1D7	51256	hgsc.bcm.edu	37	6	13321191	13321191	+	Silent	SNP	G	G	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr6:13321191G>T	ENST00000379300.3	-	4	573	c.330C>A	c.(328-330)cgC>cgA	p.R110R	TBC1D7_ENST00000607658.1_Silent_p.R83R|TBC1D7_ENST00000356436.4_Silent_p.R110R|TBC1D7_ENST00000343141.4_Silent_p.R110R|TBC1D7_ENST00000379307.2_Silent_p.R83R|TBC1D7_ENST00000607532.1_5'UTR	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	110	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GCTGATACATGCGGAGATAGA	0.483																																																	0			6											249.0	214.0	226.0					6																	13321191		2203	4300	6503	13429170	SO:0001819	synonymous_variant	51256			AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.330C>A	6.37:g.13321191G>T			13429170	E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Silent	SNP	ENST00000379300.3	37	CCDS4523.1																																																																																				0.483	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495	
HIST1H2BG	8339	hgsc.bcm.edu	37	6	26216614	26216614	+	Missense_Mutation	SNP	C	C	G	rs202170052		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr6:26216614C>G	ENST00000244601.3	-	1	258	c.258G>C	c.(256-258)aaG>aaC	p.K86N	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	86					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TGGTCGAGCGCTTGTTGTAGT	0.587																																																	0			6											112.0	108.0	109.0					6																	26216614		2203	4300	6503	26324593	SO:0001583	missense	8339			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.258G>C	6.37:g.26216614C>G	ENSP00000244601:p.Lys86Asn		26324593	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	15.89	2.966306	0.53507	.	.	ENSG00000187990	ENST00000244601	T	0.75050	-0.9	3.89	3.89	0.44902	.	0.000000	0.34531	U	0.003887	T	0.77870	0.4195	.	.	.	0.34749	D	0.731539	.	.	.	.	.	.	T	0.82192	-0.0579	7	0.87932	D	0	.	15.3699	0.74554	0.0:1.0:0.0:0.0	.	.	.	.	N	86	ENSP00000244601:K86N	ENSP00000244601:K86N	K	-	3	2	HIST1H2BG	26324593	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	3.777000	0.55364	2.172000	0.68678	0.561000	0.74099	AAG		0.587	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518	
OR5V1	81696	hgsc.bcm.edu	37	6	29323086	29323086	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr6:29323086T>C	ENST00000377154.1	-	4	1186	c.887A>G	c.(886-888)gAc>gGc	p.D296G	OR5V1_ENST00000543825.1_Missense_Mutation_p.D296G			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D296G(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTTTGATGTCCTTATTCCT	0.378																																					Ovarian(32;43 883 21137 32120 42650)												1	Substitution - Missense(1)	ovary(1)	6											113.0	110.0	111.0					6																	29323086		2203	4300	6503	29431065	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.887A>G	6.37:g.29323086T>C	ENSP00000366359:p.Asp296Gly		29431065	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.714295	0.68730	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.39592	1.07;1.07	4.53	4.53	0.55603	.	0.000000	0.34580	N	0.003844	T	0.46425	0.1392	L	0.49126	1.545	0.46458	D	0.999056	D	0.69078	0.997	P	0.62885	0.908	T	0.51710	-0.8671	10	0.87932	D	0	-25.7631	13.9454	0.64082	0.0:0.0:0.0:1.0	.	296	Q9UGF6	OR5V1_HUMAN	G	296	ENSP00000366359:D296G;ENSP00000443309:D296G	ENSP00000366356:D296G	D	-	2	0	OR5V1	29431065	1.000000	0.71417	0.932000	0.37286	0.634000	0.38068	6.942000	0.75928	2.021000	0.59480	0.443000	0.29094	GAC		0.378	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3		
CUL9	23113	hgsc.bcm.edu	37	6	43180950	43180950	+	Missense_Mutation	SNP	G	G	A	rs531967221		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr6:43180950G>A	ENST00000252050.4	+	27	5360	c.5276G>A	c.(5275-5277)cGg>cAg	p.R1759Q	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000372647.2_Missense_Mutation_p.R1759Q|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.R1649Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1759					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)			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						TGGCTGGGCCGGGCTGAGCTG	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18584	0.0		0.0	False		,,,				2504	0.0																0			6											97.0	85.0	89.0					6																	43180950		2203	4300	6503	43288928	SO:0001583	missense	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.5276G>A	6.37:g.43180950G>A	ENSP00000252050:p.Arg1759Gln		43288928	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260415	0.80246	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74106	-0.81;-0.81;-0.81	4.97	4.11	0.48088	Cullin, N-terminal (1);Cullin homology (2);	0.369213	0.27754	N	0.017981	T	0.54095	0.1837	L	0.55481	1.735	0.29114	N	0.880709	P;P;P	0.52061	0.942;0.95;0.95	P;P;B	0.45037	0.455;0.467;0.293	T	0.53215	-0.8470	10	0.45353	T	0.12	-23.9725	6.186	0.20498	0.3325:0.0:0.6674:0.0	.	1649;1759;1759	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	Q	1759;1649;1759	ENSP00000252050:R1759Q;ENSP00000346490:R1649Q;ENSP00000361730:R1759Q	ENSP00000252050:R1759Q	R	+	2	0	CUL9	43288928	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.678000	0.46900	1.087000	0.41251	0.655000	0.94253	CGG		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
TMEM63B	55362	hgsc.bcm.edu	37	6	44107234	44107234	+	Silent	SNP	C	C	T	rs199984650		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr6:44107234C>T	ENST00000259746.9	+	7	621	c.438C>T	c.(436-438)ggC>ggT	p.G146G	TMEM63B_ENST00000323267.6_Silent_p.G146G|TMEM63B_ENST00000527188.1_3'UTR			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	146					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AATGTGGGGGCGATGCCGTGC	0.582																																																	0			6						C		0,4406		0,0,2203	133.0	110.0	118.0		438	-1.9	0.8	6		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM63B	NM_018426.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		146/833	44107234	1,13005	2203	4300	6503	44215212	SO:0001819	synonymous_variant	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.438C>T	6.37:g.44107234C>T			44215212	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Silent	SNP	ENST00000259746.9	37	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	C	2.105	-0.405067	0.04832	0.0	1.16E-4	ENSG00000137216	ENST00000371893	.	.	.	4.53	-1.87	0.07737	.	.	.	.	.	T	0.22898	0.0553	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28808	-1.0032	4	.	.	.	.	2.0558	0.03581	0.1439:0.1929:0.1424:0.5208	.	.	.	.	V	75	.	.	A	+	2	0	TMEM63B	44215212	0.023000	0.18921	0.801000	0.32222	0.134000	0.20937	-0.786000	0.04623	-0.370000	0.08016	-0.305000	0.09177	GCG		0.582	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410	
DST	667	hgsc.bcm.edu	37	6	56504783	56504783	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr6:56504783C>T	ENST00000361203.3	-	15	1937	c.1930G>A	c.(1930-1932)Gtt>Att	p.V644I	DST_ENST00000421834.2_Missense_Mutation_p.V644I|DST_ENST00000370765.6_Missense_Mutation_p.V318I|DST_ENST00000446842.2_Missense_Mutation_p.V318I|DST_ENST00000312431.6_Missense_Mutation_p.V644I|DST_ENST00000370769.4_Missense_Mutation_p.V644I|DST_ENST00000518935.1_Missense_Mutation_p.V318I|DST_ENST00000370754.5_Missense_Mutation_p.V822I|DST_ENST00000370788.2_Missense_Mutation_p.V644I|DST_ENST00000244364.6_Missense_Mutation_p.V318I			Q03001	DYST_HUMAN	dystonin	644					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTCTATGAACATTTTTATGA	0.318																																																	0			6											55.0	60.0	58.0					6																	56504783		2203	4300	6503	56612742	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1930G>A	6.37:g.56504783C>T	ENSP00000354508:p.Val644Ile		56612742	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	12.71	2.019880	0.35606	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	5.45	4.58	0.56647	.	0.000000	0.44688	D	0.000440	D	0.84866	0.5567	N	0.17474	0.49	0.28342	N	0.921302	B;B;D;B;B;B;B;B;B;B	0.55385	0.002;0.0;0.971;0.0;0.008;0.002;0.016;0.109;0.0;0.004	B;B;D;B;B;B;B;B;B;B	0.68353	0.003;0.002;0.957;0.002;0.028;0.003;0.086;0.246;0.002;0.011	T	0.81693	-0.0817	9	0.08837	T	0.75	.	9.1727	0.37093	0.1454:0.7817:0.0:0.0729	.	673;644;644;822;760;318;318;318;644;318	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	I	318;822;644;644;318;644;644;644;318;684;318;318	ENSP00000244364:V318I;ENSP00000359790:V822I;ENSP00000359805:V644I;ENSP00000400883:V644I;ENSP00000393645:V318I;ENSP00000307959:V644I;ENSP00000359824:V644I;ENSP00000354508:V644I;ENSP00000404924:V318I;ENSP00000431030:V684I;ENSP00000359801:V318I;ENSP00000431003:V318I	ENSP00000244364:V318I	V	-	1	0	DST	56612742	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.726000	0.38085	1.525000	0.49052	0.655000	0.94253	GTT		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
IMPG1	3617	hgsc.bcm.edu	37	6	76728499	76728499	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr6:76728499T>C	ENST00000369950.3	-	7	932	c.743A>G	c.(742-744)aAg>aGg	p.K248R	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAGCTCTGCCTTGAACTTCTG	0.498																																					Pancreas(37;839 1141 2599 26037)												0			6											123.0	114.0	117.0					6																	76728499		2203	4300	6503	76785219	SO:0001583	missense	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.743A>G	6.37:g.76728499T>C	ENSP00000358966:p.Lys248Arg		76785219		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306861	0.23821	.	.	ENSG00000112706	ENST00000369950	T	0.38560	1.13	6.17	2.3	0.28687	SEA (3);	0.480009	0.21210	N	0.078333	T	0.17534	0.0421	L	0.43923	1.385	0.80722	D	1	B	0.32968	0.392	B	0.33960	0.173	T	0.04178	-1.0971	10	0.51188	T	0.08	.	6.9835	0.24715	0.0:0.0783:0.3998:0.5219	.	248	Q17R60	IMPG1_HUMAN	R	248	ENSP00000358966:K248R	ENSP00000358966:K248R	K	-	2	0	IMPG1	76785219	0.953000	0.32496	0.805000	0.32314	0.553000	0.35397	1.542000	0.36137	0.555000	0.29079	0.533000	0.62120	AAG		0.498	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	
NHSL1	57224	hgsc.bcm.edu	37	6	138745404	138745404	+	Silent	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr6:138745404G>A	ENST00000427025.2	-	7	5275	c.4647C>T	c.(4645-4647)ggC>ggT	p.G1549G	NHSL1_ENST00000343505.5_Silent_p.G1545G	NM_020464.1	NP_065197.1	Q5SYE7	NHSL1_HUMAN	NHS-like 1	1549										breast(2)|endometrium(4)|kidney(1)	7						CCTCCGCAGCGCCCAGAGCCC	0.701																																																	0			6											22.0	26.0	25.0					6																	138745404		692	1591	2283	138787097	SO:0001819	synonymous_variant	57224			AB037778	CCDS47487.1, CCDS55063.1	6q23.3	2009-02-18	2004-10-07	2004-10-07	ENSG00000135540	ENSG00000135540			21021	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 63"""	C6orf63			Standard	NM_001144060		Approved	bA43P8.1, KIAA1357	uc011edp.2	Q5SYE7	OTTHUMG00000016321	ENST00000427025.2:c.4647C>T	6.37:g.138745404G>A			138787097	Q3ZCS5|Q5SYE8|Q9P2J0	Silent	SNP	ENST00000427025.2	37	CCDS55063.1																																																																																				0.701	NHSL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043700.2	XM_050421	
UST	10090	hgsc.bcm.edu	37	6	149285593	149285593	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr6:149285593T>C	ENST00000367463.4	+	5	678	c.575T>C	c.(574-576)gTc>gCc	p.V192A	RP11-162J8.2_ENST00000413845.1_RNA	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	192					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		AGAGACCCCGTCAACCGGTTC	0.502																																																	0			6											104.0	95.0	98.0					6																	149285593		2203	4300	6503	149327286	SO:0001583	missense	10090			AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.575T>C	6.37:g.149285593T>C	ENSP00000356433:p.Val192Ala		149327286	B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.805897	0.90623	.	.	ENSG00000111962	ENST00000367463	T	0.75704	-0.96	5.87	5.87	0.94306	.	0.110649	0.64402	D	0.000008	T	0.66458	0.2791	L	0.48218	1.51	0.49483	D	0.999795	P	0.38250	0.624	B	0.43623	0.425	T	0.71048	-0.4705	10	0.52906	T	0.07	-19.6816	16.3322	0.83039	0.0:0.0:0.0:1.0	.	192	Q9Y2C2	UST_HUMAN	A	192	ENSP00000356433:V192A	ENSP00000356433:V192A	V	+	2	0	UST	149327286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.999000	0.88496	2.251000	0.74343	0.529000	0.55759	GTC		0.502	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715	
SYNE1	23345	hgsc.bcm.edu	37	6	152461139	152461139	+	Silent	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr6:152461139A>G	ENST00000367255.5	-	140	26005	c.25404T>C	c.(25402-25404)cgT>cgC	p.R8468R	SYNE1_ENST00000448038.1_Silent_p.R8420R|SYNE1_ENST00000423061.1_Silent_p.R8420R|SYNE1_ENST00000356820.4_Silent_p.R2992R|SYNE1_ENST00000539504.1_Silent_p.R623R|SYNE1_ENST00000265368.4_Silent_p.R8468R|SYNE1_ENST00000354674.4_Silent_p.R646R|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Silent_p.R8080R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8468			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAGTTCCAGACGCTGGAGCT	0.562										HNSCC(10;0.0054)																																							0			6											118.0	96.0	104.0					6																	152461139		2203	4300	6503	152502832	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25404T>C	6.37:g.152461139A>G			152502832	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.562	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
MLLT4	4301	hgsc.bcm.edu	37	6	168352576	168352576	+	Silent	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr6:168352576G>A	ENST00000447894.2	+	29	4521	c.4521G>A	c.(4519-4521)tcG>tcA	p.S1507S	MLLT4_ENST00000392112.1_Silent_p.S1490S|MLLT4_ENST00000351017.4_Silent_p.S1514S|MLLT4_ENST00000400822.3_Silent_p.S1506S|MLLT4_ENST00000392108.3_Silent_p.S1507S|MLLT4_ENST00000344191.4_Silent_p.S1507S|MLLT4_ENST00000366806.2_Silent_p.S1507S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1507					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.S1507S(1)|p.S1491S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGCTTTCCTCGGGGGACAGTC	0.592			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	2	Substitution - coding silent(2)	kidney(2)	6											33.0	41.0	38.0					6																	168352576		2202	4298	6500	168095425	SO:0001819	synonymous_variant	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4521G>A	6.37:g.168352576G>A			168095425	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37																																																																																					0.592	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
TBC1D28	254272	hgsc.bcm.edu	37	17	18541684	18541684	+	Missense_Mutation	SNP	G	G	A	rs574074719		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr17:18541684G>A	ENST00000345096.4	-	7	1028	c.329C>T	c.(328-330)gCg>gTg	p.A110V	TBC1D28_ENST00000405044.1_Missense_Mutation_p.A110V			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	110	Rab-GAP TBC.						Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						AAGTGACAACGCCCGGCCCCG	0.512													.|||	1	0.000199681	0.0	0.0	5008	,	,		20578	0.001		0.0	False		,,,				2504	0.0																0			17											120.0	122.0	121.0					17																	18541684		1928	4120	6048	18482409	SO:0001583	missense	254272				CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.329C>T	17.37:g.18541684G>A	ENSP00000339973:p.Ala110Val		18482409	Q2M2E1	Missense_Mutation	SNP	ENST00000345096.4	37	CCDS42273.1	.	.	.	.	.	.	.	.	.	.	N	0.006	-2.027225	0.00410	.	.	ENSG00000189375	ENST00000345096;ENST00000405044	T;T	0.07021	3.23;3.23	0.185	0.185	0.15096	Rab-GAP/TBC domain (2);	0.416873	0.22654	N	0.057281	T	0.03827	0.0108	L	0.33093	0.98	0.09310	N	1	P	0.40578	0.722	B	0.34038	0.174	T	0.36383	-0.9750	9	0.02654	T	1	.	.	.	.	.	110	Q2M2D7	TBC28_HUMAN	V	110	ENSP00000339973:A110V;ENSP00000385821:A110V	ENSP00000339973:A110V	A	-	2	0	TBC1D28	18482409	0.724000	0.28038	0.001000	0.08648	0.001000	0.01503	0.235000	0.17948	0.293000	0.22520	0.298000	0.19748	GCG		0.512	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397	
SRCIN1	80725	hgsc.bcm.edu	37	17	36719669	36719669	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr17:36719669G>C	ENST00000264659.7	-	5	854	c.630C>G	c.(628-630)atC>atG	p.I210M	SRCIN1_ENST00000578925.1_Missense_Mutation_p.I244M|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	82					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						ACATGTGCGCGATGAGTGCGT	0.607																																																	0			17											46.0	50.0	49.0					17																	36719669		2187	4271	6458	33973195	SO:0001583	missense	0				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.630C>G	17.37:g.36719669G>C	ENSP00000264659:p.Ile210Met		33973195	Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337936	0.81911	.	.	ENSG00000017373	ENST00000264659;ENST00000398579	T	0.58060	0.36	5.0	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	L	0.58101	1.795	0.46298	D	0.99897	D;D;D;D	0.89917	0.982;1.0;1.0;1.0	P;D;D;D	0.91635	0.884;0.998;0.998;0.999	T	0.67268	-0.5713	10	0.87932	D	0	-16.6874	9.767	0.40567	0.1673:0.0:0.8327:0.0	.	64;82;82;210	B4DHC2;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	M	210;64	ENSP00000264659:I210M	ENSP00000264659:I210M	I	-	3	3	SRCIN1	33973195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.353000	0.52247	2.477000	0.83638	0.650000	0.86243	ATC		0.607	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248	
SLC25A39	51629	hgsc.bcm.edu	37	17	42397597	42397597	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr17:42397597G>A	ENST00000377095.5	-	11	1050	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	SLC25A39_ENST00000225308.8_Missense_Mutation_p.R303W|SLC25A39_ENST00000586016.1_Missense_Mutation_p.R179W|SLC25A39_ENST00000590194.1_Missense_Mutation_p.R303W|SLC25A39_ENST00000537904.2_Missense_Mutation_p.R288W	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	311					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GACTCGGCCCGGATCCTCCGC	0.677																																																	0			17											50.0	54.0	53.0					17																	42397597		2203	4300	6503	39753123	SO:0001583	missense	51629			BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.931C>T	17.37:g.42397597G>A	ENSP00000366299:p.Arg311Trp		39753123	A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	G	7.531	0.658711	0.14645	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.78364	-1.17;-1.17;-1.17	5.38	2.31	0.28768	Mitochondrial carrier domain (2);	0.498482	0.21711	N	0.070272	T	0.54287	0.1849	N	0.05351	-0.065	0.22940	N	0.99853	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.35151	-0.9800	9	.	.	.	-0.5848	9.3464	0.38111	0.0676:0.0:0.6741:0.2584	.	288;311;303	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	W	303;311;288	ENSP00000225308:R303W;ENSP00000366299:R311W;ENSP00000444540:R288W	.	R	-	1	2	SLC25A39	39753123	0.913000	0.31002	0.347000	0.25668	0.007000	0.05969	1.522000	0.35921	0.395000	0.25257	-0.169000	0.13324	CGG		0.677	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016	
CLTC	1213	hgsc.bcm.edu	37	17	57746254	57746254	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr17:57746254A>G	ENST00000269122.3	+	14	2519	c.2245A>G	c.(2245-2247)Aga>Gga	p.R749G	CLTC_ENST00000393043.1_Missense_Mutation_p.R749G|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	749	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAGAATCTGTAGAGAAAGCAA	0.408			T	"""ALK, TFE3"""	"""ALCL, renal """																																			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	0			17											114.0	116.0	115.0					17																	57746254		2203	4300	6503	55101036	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2245A>G	17.37:g.57746254A>G	ENSP00000269122:p.Arg749Gly		55101036	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615894	0.66672	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.20200	2.09;2.09	5.42	3.02	0.34903	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	M	0.91663	3.23	0.80722	D	1	D;P	0.62365	0.991;0.947	D;D	0.81914	0.995;0.957	T	0.64457	-0.6403	10	0.87932	D	0	.	13.0929	0.59176	0.6403:0.3597:0.0:0.0	.	749;749	Q00610;Q00610-2	CLH1_HUMAN;.	G	749	ENSP00000269122:R749G;ENSP00000376763:R749G	ENSP00000269122:R749G	R	+	1	2	CLTC	55101036	0.996000	0.38824	1.000000	0.80357	0.990000	0.78478	0.812000	0.27211	0.970000	0.38263	0.383000	0.25322	AGA		0.408	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859	
USP32	84669	hgsc.bcm.edu	37	17	58365981	58365981	+	Silent	SNP	A	A	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr17:58365981A>C	ENST00000300896.4	-	5	668	c.474T>G	c.(472-474)acT>acG	p.T158T	USP32_ENST00000393003.3_Silent_p.T158T	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	158					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATCGAGAGAAAGTAAAAGCAT	0.343																																																	0			17											87.0	83.0	85.0					17																	58365981		2203	4300	6503	55720763	SO:0001819	synonymous_variant	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.474T>G	17.37:g.58365981A>C			55720763	Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	CCDS32697.1																																																																																				0.343	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	
SOX9	6662	hgsc.bcm.edu	37	17	70119039	70119039	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr17:70119039T>A	ENST00000245479.2	+	2	983	c.611T>A	c.(610-612)tTc>tAc	p.F204Y		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	204					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AACGCCATCTTCAAGGCGCTG	0.677																																					Pancreas(42;83 1041 2320 35205 39456)												0			17											70.0	77.0	75.0					17																	70119039		2203	4300	6503	67630634	SO:0001583	missense	6662			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.611T>A	17.37:g.70119039T>A	ENSP00000245479:p.Phe204Tyr		67630634	Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786499	0.49997	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.82167	-1.58	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	L	0.31752	0.955	0.53688	D	0.999975	P	0.43094	0.799	B	0.30179	0.112	T	0.70156	-0.4949	10	0.02654	T	1	.	14.0059	0.64463	0.0:0.0:0.0:1.0	.	204	P48436	SOX9_HUMAN	Y	204	ENSP00000245479:F204Y	ENSP00000245479:F204Y	F	+	2	0	SOX9	67630634	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.962000	0.70364	1.716000	0.51395	0.402000	0.26972	TTC		0.677	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346	
KIF19	124602	hgsc.bcm.edu	37	17	72350578	72350578	+	Silent	SNP	G	G	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr17:72350578G>T	ENST00000389916.4	+	18	2724	c.2586G>T	c.(2584-2586)ggG>ggT	p.G862G	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	862					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GACATCATGGGGACGGCCCCA	0.662																																																	0			17											12.0	15.0	14.0					17																	72350578		1915	4079	5994	69862173	SO:0001819	synonymous_variant	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2586G>T	17.37:g.72350578G>T			69862173	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	CCDS32718.2																																																																																				0.662	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	
RNF213	57674	hgsc.bcm.edu	37	17	78321010	78321010	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr17:78321010C>G	ENST00000582970.1	+	29	9018	c.8875C>G	c.(8875-8877)Ctc>Gtc	p.L2959V	RNF213_ENST00000508628.2_Missense_Mutation_p.L3008V|RNF213_ENST00000336301.6_Missense_Mutation_p.L1032V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2959					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTACTACAGCCTCATCAAAAT	0.507																																																	0			17											40.0	33.0	36.0					17																	78321010		2203	4300	6503	75935605	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8875C>G	17.37:g.78321010C>G	ENSP00000464087:p.Leu2959Val		75935605	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801083	0.31869	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T;T	0.34275	1.37;1.39	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000006	T	0.57651	0.2068	M	0.79475	2.455	0.34043	D	0.655189	P	0.46457	0.878	P	0.59056	0.851	T	0.70901	-0.4746	10	0.72032	D	0.01	.	13.3182	0.60419	0.0:0.9278:0.0:0.0722	.	1032	Q63HN8	RN213_HUMAN	V	2959;3008;1032	ENSP00000425956:L2959V;ENSP00000338218:L1032V	ENSP00000338218:L1032V	L	+	1	0	RNF213	75935605	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.652000	0.54439	2.751000	0.94390	0.563000	0.77884	CTC		0.507	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
KRTAP26-1	388818	hgsc.bcm.edu	37	21	31691839	31691839	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr21:31691839C>T	ENST00000360542.3	-	1	768	c.515G>A	c.(514-516)cGt>cAt	p.R172H		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	172						intermediate filament (GO:0005882)		p.R172H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						ACTTTGAGGACGATAGGCCAA	0.562																																																	1	Substitution - Missense(1)	ovary(1)	21											192.0	193.0	193.0					21																	31691839		2203	4300	6503	30613710	SO:0001583	missense	388818			AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.515G>A	21.37:g.31691839C>T	ENSP00000353742:p.Arg172His		30613710	B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	CCDS13588.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379383	0.42207	.	.	ENSG00000197683	ENST00000360542	T	0.16897	2.31	5.06	2.27	0.28462	.	1.468220	0.04336	N	0.353191	T	0.12092	0.0294	L	0.27053	0.805	0.09310	N	1	P	0.47350	0.894	B	0.39068	0.289	T	0.22487	-1.0215	10	0.24483	T	0.36	1.0E-4	6.4572	0.21936	0.0:0.7061:0.0:0.2939	.	172	Q6PEX3	KR261_HUMAN	H	172	ENSP00000353742:R172H	ENSP00000353742:R172H	R	-	2	0	KRTAP26-1	30613710	0.000000	0.05858	0.020000	0.16555	0.006000	0.05464	0.114000	0.15520	0.782000	0.33613	0.650000	0.86243	CGT		0.562	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405	
TMEM8A	58986	hgsc.bcm.edu	37	16	425221	425221	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr16:425221A>G	ENST00000431232.2	-	8	1511	c.1351T>C	c.(1351-1353)Tgg>Cgg	p.W451R	TMEM8A_ENST00000250930.3_Missense_Mutation_p.W258R|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	451					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CTGCGAGACCAGGCGCTCAGA	0.637																																																	0			16											77.0	70.0	73.0					16																	425221		2202	4300	6502	365222	SO:0001583	missense	58986			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1351T>C	16.37:g.425221A>G	ENSP00000401338:p.Trp451Arg		365222	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	A	7.082	0.570459	0.13560	.	.	ENSG00000129925	ENST00000431232;ENST00000250930	T;T	0.28069	2.04;1.63	4.31	-2.56	0.06268	.	1.168690	0.06285	N	0.698184	T	0.17450	0.0419	N	0.22421	0.69	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.27905	-1.0060	10	0.72032	D	0.01	-9.4489	2.2774	0.04105	0.2983:0.3667:0.0762:0.2588	.	451	Q9HCN3	TMM8A_HUMAN	R	451;258	ENSP00000401338:W451R;ENSP00000250930:W258R	ENSP00000250930:W258R	W	-	1	0	TMEM8A	365222	0.000000	0.05858	0.000000	0.03702	0.677000	0.39632	0.725000	0.25970	-0.781000	0.04548	0.459000	0.35465	TGG		0.637	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259	
PDILT	204474	hgsc.bcm.edu	37	16	20396059	20396059	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr16:20396059T>C	ENST00000302451.4	-	3	565	c.317A>G	c.(316-318)gAg>gGg	p.E106G	RP11-429K17.1_ENST00000577173.1_RNA	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	106			E -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AAGCTCCTTCTCTATGGTAAT	0.512																																																	0			16											268.0	264.0	265.0					16																	20396059		2203	4300	6503	20303560	SO:0001583	missense	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.317A>G	16.37:g.20396059T>C	ENSP00000305465:p.Glu106Gly		20303560	Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.794170	0.50102	.	.	ENSG00000169340	ENST00000302451	T	0.03524	3.9	5.43	4.32	0.51571	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.116359	0.56097	D	0.000021	T	0.15869	0.0382	M	0.79926	2.475	0.36722	D	0.881239	D	0.89917	1.0	D	0.79784	0.993	T	0.02691	-1.1123	10	0.52906	T	0.07	.	8.5088	0.33204	0.172:0.0:0.0:0.828	.	106	Q8N807	PDILT_HUMAN	G	106	ENSP00000305465:E106G	ENSP00000305465:E106G	E	-	2	0	PDILT	20303560	1.000000	0.71417	0.987000	0.45799	0.332000	0.28634	3.732000	0.55021	1.050000	0.40346	0.533000	0.62120	GAG		0.512	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
CES3	23491	hgsc.bcm.edu	37	16	66995285	66995285	+	Silent	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr16:66995285A>G	ENST00000303334.4	+	1	146	c.75A>G	c.(73-75)acA>acG	p.T25T	CES3_ENST00000394037.1_Silent_p.T25T|RP11-361L15.4_ENST00000566869.1_RNA	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	25						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GCCCTGCCACAGCCACTGGTA	0.602											OREG0023869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			16											63.0	53.0	57.0					16																	66995285		2200	4300	6500	65552786	SO:0001819	synonymous_variant	23491			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.75A>G	16.37:g.66995285A>G		1096	65552786	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Silent	SNP	ENST00000303334.4	37	CCDS10826.1																																																																																				0.602	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922	
CDH1	999	hgsc.bcm.edu	37	16	68857497	68857497	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr16:68857497T>A	ENST00000261769.5	+	13	2323	c.2132T>A	c.(2131-2133)cTg>cAg	p.L711Q	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.L650Q|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	711			L -> V (detected in an endometrial cancer sample). {ECO:0000269|PubMed:8075649}.		adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCTGCCATTCTGGGGATTCTT	0.493			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0			16											66.0	70.0	68.0					16																	68857497		2198	4300	6498	67414998	SO:0001583	missense	51343	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2132T>A	16.37:g.68857497T>A	ENSP00000261769:p.Leu711Gln		67414998	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.962849	0.74016	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.57436	0.41;0.4	6.04	4.96	0.65561	.	0.180883	0.26586	N	0.023550	T	0.74450	0.3718	M	0.86343	2.81	0.51482	D	0.99992	D;D	0.89917	0.996;1.0	D;D	0.76071	0.943;0.987	T	0.78201	-0.2296	10	0.87932	D	0	.	11.8028	0.52137	0.0:0.0686:0.0:0.9314	.	650;711	Q9UII8;P12830	.;CADH1_HUMAN	Q	711;729;650	ENSP00000261769:L711Q;ENSP00000414946:L650Q	ENSP00000261769:L711Q	L	+	2	0	CDH1	67414998	1.000000	0.71417	0.806000	0.32338	0.980000	0.70556	5.211000	0.65219	1.118000	0.41863	0.460000	0.39030	CTG		0.493	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
MIB1	57534	hgsc.bcm.edu	37	18	19378063	19378063	+	Nonsense_Mutation	SNP	C	C	T	rs141236852		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr18:19378063C>T	ENST00000261537.6	+	8	1375	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	371					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TAAAGTTGGCCGAGTACAACA	0.368																																																	0			18						C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	118.0	117.0		1111	2.4	1.0	18	dbSNP_134	117	3,8595	3.0+/-9.4	0,3,4296	yes	stop-gained	MIB1	NM_020774.2		0,4,6498	TT,TC,CC		0.0349,0.0227,0.0308		371/1007	19378063	4,13000	2203	4299	6502	17632061	SO:0001587	stop_gained	57534			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1111C>T	18.37:g.19378063C>T	ENSP00000261537:p.Arg371*		17632061	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Nonsense_Mutation	SNP	ENST00000261537.6	37	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	C	41	8.812577	0.98964	2.27E-4	3.49E-4	ENSG00000101752	ENST00000261537	.	.	.	5.2	2.39	0.29439	.	0.063642	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-9.7576	10.7384	0.46139	0.4891:0.392:0.119:0.0	.	.	.	.	X	371	.	ENSP00000261537:R371X	R	+	1	2	MIB1	17632061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.905000	0.39878	0.269000	0.21961	-0.182000	0.12963	CGA		0.368	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774	
SMAD2	4087	hgsc.bcm.edu	37	18	45391501	45391501	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr18:45391501G>A	ENST00000402690.2	-	6	1053	c.659C>T	c.(658-660)aCg>aTg	p.T220M	SMAD2_ENST00000262160.6_Missense_Mutation_p.T220M|SMAD2_ENST00000356825.4_Missense_Mutation_p.T190M|SMAD2_ENST00000586040.1_Missense_Mutation_p.T190M|SMAD2_ENST00000591214.1_Missense_Mutation_p.T190M	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	220					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.T220M(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						AGGAGGTGGCGTTTCTACAAA	0.368																																																	1	Substitution - Missense(1)	central_nervous_system(1)	18											88.0	74.0	79.0					18																	45391501		2203	4300	6503	43645499	SO:0001583	missense	4087			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.659C>T	18.37:g.45391501G>A	ENSP00000384449:p.Thr220Met		43645499		Missense_Mutation	SNP	ENST00000402690.2	37	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918373	0.92249	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.97209	-4.29;-4.29;-4.29	5.82	5.82	0.92795	SMAD/FHA domain (1);	0.046520	0.85682	D	0.000000	D	0.98052	0.9358	M	0.84948	2.725	0.80722	D	1	D;B;D	0.59357	0.985;0.318;0.985	P;B;P	0.53224	0.721;0.084;0.613	D	0.98254	1.0495	10	0.56958	D	0.05	.	19.7014	0.96054	0.0:0.0:1.0:0.0	.	190;190;220	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	M	220;190;220	ENSP00000262160:T220M;ENSP00000349282:T190M;ENSP00000384449:T220M	ENSP00000262160:T220M	T	-	2	0	SMAD2	43645499	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.747000	0.98863	2.755000	0.94549	0.591000	0.81541	ACG		0.368	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901	
SMAD4	4089	hgsc.bcm.edu	37	18	48575671	48575671	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr18:48575671C>A	ENST00000342988.3	+	4	969	c.431C>A	c.(430-432)tCa>tAa	p.S144*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S144*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	144					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.S144*(5)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAAGATCTCTCAGGATTAACA	0.294																																																	45	Whole gene deletion(36)|Substitution - Nonsense(5)|Unknown(4)	pancreas(26)|lung(4)|breast(4)|large_intestine(3)|stomach(3)|upper_aerodigestive_tract(2)|skin(1)|oesophagus(1)|NS(1)	18											182.0	163.0	169.0					18																	48575671		2202	4298	6500	46829669	SO:0001587	stop_gained	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.431C>A	18.37:g.48575671C>A	ENSP00000341551:p.Ser144*		46829669	A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	42	9.580243	0.99210	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	19.1014	0.93275	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000341551:S144X	S	+	2	0	SMAD4	46829669	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.885000	0.63142	2.810000	0.96702	0.585000	0.79938	TCA		0.294	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
EOMES	8320	hgsc.bcm.edu	37	3	27758785	27758785	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:27758785C>T	ENST00000295743.4	-	6	2040	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000537516.1_Missense_Mutation_p.E337K|EOMES_ENST00000449599.1_Missense_Mutation_p.E632K			O95936	EOMES_HUMAN	eomesodermin	613	Required for transcription activation. {ECO:0000250}.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E613*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GAGCCAATTTCCTCTTTCACT	0.483																																																	1	Substitution - Nonsense(1)	ovary(1)	3											106.0	110.0	108.0					3																	27758785		2203	4300	6503	27733789	SO:0001583	missense	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1837G>A	3.37:g.27758785C>T	ENSP00000295743:p.Glu613Lys		27733789	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	9.813	1.183657	0.21870	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.85556	-2.0;-2.0;-1.69	5.05	5.05	0.67936	.	1.966750	0.02853	N	0.129301	D	0.88948	0.6576	L	0.47716	1.5	0.80722	D	1	B;P;D	0.58268	0.01;0.935;0.982	B;P;P	0.51266	0.023;0.604;0.664	T	0.77935	-0.2401	10	0.28530	T	0.3	.	19.3091	0.94177	0.0:1.0:0.0:0.0	.	346;632;613	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	K	613;632;337;497	ENSP00000295743:E613K;ENSP00000388620:E632K;ENSP00000442097:E337K	ENSP00000295743:E613K	E	-	1	0	EOMES	27733789	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.665000	0.68052	2.724000	0.93272	0.563000	0.77884	GAA		0.483	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266170	41266170	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:41266170A>G	ENST00000349496.5	+	3	447	c.167A>G	c.(166-168)gAt>gGt	p.D56G	CTNNB1_ENST00000405570.1_Missense_Mutation_p.D56G|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D56G|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D49G|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D56G	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	56					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.Q28_Q61del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GAGGAAGAGGATGTGGATACC	0.468		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	109	Deletion - In frame(87)|Complex - deletion inframe(15)|Unknown(7)	liver(80)|large_intestine(16)|stomach(7)|small_intestine(2)|skin(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)	3											72.0	67.0	69.0					3																	41266170		2203	4300	6503	41241174	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.167A>G	3.37:g.41266170A>G	ENSP00000344456:p.Asp56Gly		41241174	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.838765	0.51057	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.91	5.91	0.95273	.	0.089868	0.85682	D	0.000000	T	0.24699	0.0599	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.06789	-1.0807	10	0.44086	T	0.13	-31.3631	16.3453	0.83126	1.0:0.0:0.0:0.0	.	56	P35222	CTNB1_HUMAN	G	49;56;56;56;56;49;56;56;56	ENSP00000400508:D49G;ENSP00000385604:D56G;ENSP00000412219:D56G;ENSP00000379486:D56G;ENSP00000344456:D56G;ENSP00000411226:D49G;ENSP00000379488:D56G;ENSP00000409302:D56G;ENSP00000401599:D56G	ENSP00000344456:D56G	D	+	2	0	CTNNB1	41241174	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	GAT		0.468	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266860	41266860	+	Missense_Mutation	SNP	G	G	T	rs267599822		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:41266860G>T	ENST00000349496.5	+	5	811	c.531G>T	c.(529-531)caG>caT	p.Q177H	CTNNB1_ENST00000405570.1_Missense_Mutation_p.Q177H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.Q177H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.Q170H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.Q177H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	177	Interaction with BCL9.				adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGTCCATCAGCTTTCTAAAA	0.408		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	0			3											65.0	68.0	67.0					3																	41266860		2203	4299	6502	41241864	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.531G>T	3.37:g.41266860G>T	ENSP00000344456:p.Gln177His		41241864	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138746	0.37728	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.7	4.82	0.62117	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	L	0.37561	1.115	0.80722	D	1	B;B	0.16802	0.009;0.019	B;B	0.15870	0.009;0.014	T	0.54323	-0.8311	10	0.51188	T	0.08	-2.7834	11.2741	0.49157	0.1403:0.0:0.8597:0.0	.	105;177	B4DSW9;P35222	.;CTNB1_HUMAN	H	177;177;177;170;177	ENSP00000385604:Q177H;ENSP00000379486:Q177H;ENSP00000344456:Q177H;ENSP00000411226:Q170H;ENSP00000379488:Q177H	ENSP00000344456:Q177H	Q	+	3	2	CTNNB1	41241864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.560000	0.67332	2.692000	0.91855	0.655000	0.94253	CAG		0.408	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CELSR3	1951	hgsc.bcm.edu	37	3	48696750	48696750	+	Silent	SNP	G	G	T	rs149132560	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:48696750G>T	ENST00000164024.4	-	1	3598	c.3318C>A	c.(3316-3318)atC>atA	p.I1106I	CELSR3_ENST00000544264.1_Silent_p.I1106I	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1106	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I1106I(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCCCTCCACGATCTGGTACA	0.522																																																	1	Substitution - coding silent(1)	skin(1)	3											91.0	87.0	89.0					3																	48696750		2203	4300	6503	48671754	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3318C>A	3.37:g.48696750G>T			48671754	O75092	Silent	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																				0.522	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
WDR6	11180	hgsc.bcm.edu	37	3	49050135	49050135	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:49050135T>C	ENST00000608424.1	+	2	1207	c.1168T>C	c.(1168-1170)Ttc>Ctc	p.F390L	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000395474.3_Missense_Mutation_p.F420L|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.F339L			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	390					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGATAAACATTTCCAGTCCTA	0.572																																																	0			3											53.0	52.0	53.0					3																	49050135		2203	4300	6503	49025139	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1168T>C	3.37:g.49050135T>C	ENSP00000477389:p.Phe390Leu		49025139	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37		.	.	.	.	.	.	.	.	.	.	T	19.70	3.875950	0.72180	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;T	0.64803	-0.12;2.34	5.28	5.28	0.74379	WD40 repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.123171	0.56097	D	0.000025	T	0.52677	0.1749	N	0.19112	0.55	0.47584	D	0.999466	D;D;D	0.56521	0.958;0.976;0.976	P;P;P	0.49922	0.501;0.626;0.626	T	0.48080	-0.9066	10	0.11485	T	0.65	-23.5207	14.1816	0.65578	0.0:0.0:0.0:1.0	.	261;390;339	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	L	420;339	ENSP00000378857:F420L;ENSP00000413432:F339L	ENSP00000378857:F420L	F	+	1	0	WDR6	49025139	1.000000	0.71417	0.869000	0.34112	0.927000	0.56198	5.413000	0.66399	2.005000	0.58758	0.459000	0.35465	TTC		0.572	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1		
SHQ1	55164	hgsc.bcm.edu	37	3	72881525	72881525	+	Silent	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:72881525A>G	ENST00000325599.8	-	5	733	c.594T>C	c.(592-594)caT>caC	p.H198H	SHQ1_ENST00000463369.1_Silent_p.H170H	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	198					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CTCACAGATAATGATCAGGAT	0.378																																																	0			3											64.0	71.0	69.0					3																	72881525		2203	4300	6503	72964215	SO:0001819	synonymous_variant	55164			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.594T>C	3.37:g.72881525A>G			72964215	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Silent	SNP	ENST00000325599.8	37	CCDS33788.1																																																																																				0.378	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130	
SLCO2A1	6578	hgsc.bcm.edu	37	3	133674025	133674025	+	Missense_Mutation	SNP	C	C	T	rs202244173		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:133674025C>T	ENST00000310926.4	-	4	683	c.410G>A	c.(409-411)cGc>cAc	p.R137H	SLCO2A1_ENST00000478651.1_5'Flank|SLCO2A1_ENST00000493729.1_Intron	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	137					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GGCCTGCAAGCGGCTGTTGTT	0.637																																																	0			3											44.0	44.0	44.0					3																	133674025		2203	4300	6503	135156715	SO:0001583	missense	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.410G>A	3.37:g.133674025C>T	ENSP00000311291:p.Arg137His		135156715	Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	0.415	-0.911160	0.02434	.	.	ENSG00000174640	ENST00000310926	T	0.39406	1.08	5.5	-11.0	0.00169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.303740	0.01346	N	0.011720	T	0.17916	0.0430	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36529	-0.9744	10	0.37606	T	0.19	.	8.7006	0.34323	0.2149:0.1949:0.0:0.5901	.	137	Q92959	SO2A1_HUMAN	H	137	ENSP00000311291:R137H	ENSP00000311291:R137H	R	-	2	0	SLCO2A1	135156715	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.320000	0.02700	-4.546000	0.00043	-2.754000	0.00123	CGC		0.637	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630	
TFDP2	7029	hgsc.bcm.edu	37	3	141692893	141692893	+	Silent	SNP	C	C	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:141692893C>A	ENST00000489671.1	-	8	1090	c.660G>T	c.(658-660)ctG>ctT	p.L220L	TFDP2_ENST00000486111.1_Silent_p.L160L|TFDP2_ENST00000479040.1_Silent_p.L159L|TFDP2_ENST00000397991.4_Silent_p.L192L|TFDP2_ENST00000310282.6_Silent_p.L160L|TFDP2_ENST00000477292.1_Silent_p.L84L|TFDP2_ENST00000317104.7_Silent_p.L144L|TFDP2_ENST00000467072.1_Silent_p.L160L|TFDP2_ENST00000499676.2_Silent_p.L160L|TFDP2_ENST00000495310.1_Silent_p.L123L			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	220	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						CACTTACCTCCAGATTCTGAC	0.303																																																	0			3											86.0	80.0	82.0					3																	141692893		1843	4118	5961	143175583	SO:0001819	synonymous_variant	7029			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.660G>T	3.37:g.141692893C>A			143175583	B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Silent	SNP	ENST00000489671.1	37	CCDS54650.1																																																																																				0.303	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286	
OPA1	4976	hgsc.bcm.edu	37	3	193332592	193332592	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:193332592G>A	ENST00000392438.3	+	2	347	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	OPA1_ENST00000361510.2_Missense_Mutation_p.R38Q|OPA1_ENST00000361828.2_Missense_Mutation_p.R38Q|OPA1_ENST00000361150.2_Missense_Mutation_p.R38Q|OPA1_ENST00000361715.2_Missense_Mutation_p.R38Q|OPA1_ENST00000361908.3_Missense_Mutation_p.R38Q|OPA1_ENST00000487986.1_3'UTR	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	38			Missing (in OPA1). {ECO:0000269|PubMed:12036970}.		apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.R38Q(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CTGGTTTCACGAAGCATTTAT	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)	3	GRCh37	CD014021	OPA1	D							117.0	103.0	108.0					3																	193332592		2203	4300	6503	194815286	SO:0001583	missense	9968			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.113G>A	3.37:g.193332592G>A	ENSP00000376233:p.Arg38Gln		194815286	D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183823	0.94885	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000392437;ENST00000392436	D;D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.98	5.98	0.97165	.	0.064498	0.64402	D	0.000004	D	0.84647	0.5518	L	0.59436	1.845	0.58432	D	0.999997	P;B;P;P;P;P;P;D	0.52996	0.553;0.052;0.688;0.824;0.85;0.804;0.804;0.957	B;B;B;B;B;B;B;B	0.41440	0.116;0.005;0.079;0.203;0.163;0.079;0.116;0.357	D	0.85907	0.1438	10	0.59425	D	0.04	-10.1713	12.7122	0.57096	0.0742:0.0:0.9258:0.0	.	38;38;38;38;38;38;38;38	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	Q	38	ENSP00000354681:R38Q;ENSP00000376233:R38Q;ENSP00000355324:R38Q;ENSP00000355311:R38Q;ENSP00000354429:R38Q;ENSP00000354781:R38Q;ENSP00000376232:R38Q;ENSP00000376231:R38Q	ENSP00000354781:R38Q	R	+	2	0	OPA1	194815286	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.662000	0.74426	2.835000	0.97688	0.650000	0.86243	CGA		0.388	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837	
SLCO1B3	28234	hgsc.bcm.edu	37	12	21069013	21069013	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:21069013G>A	ENST00000381545.3	+	16	2160	c.1941G>A	c.(1939-1941)atG>atA	p.M647I	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.M647I|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	647			M -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTTTTGCTATGAAGAAAAAAT	0.318																																																	0			12											68.0	69.0	69.0					12																	21069013		2202	4299	6501	20960280	SO:0001583	missense	28234				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1941G>A	12.37:g.21069013G>A	ENSP00000370956:p.Met647Ile		20960280	E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	3.946	-0.013198	0.07727	.	.	ENSG00000111700	ENST00000261196;ENST00000381545	T;T	0.57436	0.4;0.4	3.6	0.538	0.17150	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.880700	0.09921	N	0.738419	T	0.28300	0.0699	N	0.15975	0.35	0.32383	N	0.554246	B	0.02656	0.0	B	0.04013	0.001	T	0.36841	-0.9731	10	0.13108	T	0.6	.	4.3515	0.11158	0.2284:0.186:0.5856:0.0	.	647	Q9NPD5	SO1B3_HUMAN	I	647	ENSP00000261196:M647I;ENSP00000370956:M647I	ENSP00000261196:M647I	M	+	3	0	SLCO1B3	20960280	0.991000	0.36638	0.025000	0.17156	0.002000	0.02628	0.673000	0.25203	-0.142000	0.11354	-1.211000	0.01629	ATG		0.318	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844	
STK38L	23012	hgsc.bcm.edu	37	12	27467506	27467506	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:27467506A>G	ENST00000389032.3	+	7	756	c.587A>G	c.(586-588)gAg>gGg	p.E196G	STK38L_ENST00000539577.1_Missense_Mutation_p.E103G	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TACATTTCAGAGACTGTTCTG	0.378																																																	0			12											121.0	108.0	112.0					12																	27467506		2203	4300	6503	27358773	SO:0001583	missense	23012			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.587A>G	12.37:g.27467506A>G	ENSP00000373684:p.Glu196Gly		27358773		Missense_Mutation	SNP	ENST00000389032.3	37	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.778203	0.90195	.	.	ENSG00000211455	ENST00000389032;ENST00000545470;ENST00000539577	T;T;T	0.24908	3.12;1.83;1.83	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115109	0.64402	D	0.000017	T	0.50905	0.1643	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.994	T	0.56414	-0.7983	10	0.87932	D	0	.	14.6964	0.69124	1.0:0.0:0.0:0.0	.	103;196	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	G	196;155;103	ENSP00000373684:E196G;ENSP00000439457:E155G;ENSP00000446386:E103G	ENSP00000373684:E196G	E	+	2	0	STK38L	27358773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.123000	0.94387	2.121000	0.65114	0.460000	0.39030	GAG		0.378	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000	
SYT10	341359	hgsc.bcm.edu	37	12	33532789	33532789	+	Missense_Mutation	SNP	G	G	A	rs545012156		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:33532789G>A	ENST00000228567.3	-	6	1774	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M	SYT10_ENST00000535526.1_Missense_Mutation_p.T312M	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	493					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.T493M(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTGCCAGTGCGTTATTGGTTT	0.443																																																	1	Substitution - Missense(1)	prostate(1)	12											239.0	204.0	216.0					12																	33532789		2203	4300	6503	33424056	SO:0001583	missense	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1478C>T	12.37:g.33532789G>A	ENSP00000228567:p.Thr493Met		33424056	Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558694	0.86231	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.72051	-0.62;-0.62	4.21	4.21	0.49690	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.42548	U	0.000681	T	0.68860	0.3047	L	0.48642	1.525	0.58432	D	0.999999	P	0.46020	0.871	P	0.44597	0.454	T	0.75224	-0.3393	10	0.87932	D	0	.	16.8349	0.85954	0.0:0.0:1.0:0.0	.	493	Q6XYQ8	SYT10_HUMAN	M	493;312	ENSP00000228567:T493M;ENSP00000438691:T312M	ENSP00000228567:T493M	T	-	2	0	SYT10	33424056	1.000000	0.71417	0.958000	0.39756	0.889000	0.51656	9.044000	0.93805	2.631000	0.89168	0.585000	0.79938	ACG		0.443	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992	
TUBA1C	84790	hgsc.bcm.edu	37	12	49663698	49663698	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:49663698G>A	ENST00000301072.6	+	3	589	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	TUBA1C_ENST00000549183.1_Missense_Mutation_p.R105Q|RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Missense_Mutation_p.R175Q	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	105					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						AACTATGCCCGAGGGCACTAC	0.483																																																	0			12											163.0	153.0	157.0					12																	49663698		2203	4300	6503	47949965	SO:0001583	missense	84790			BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.314G>A	12.37:g.49663698G>A	ENSP00000301072:p.Arg105Gln		47949965		Missense_Mutation	SNP	ENST00000301072.6	37	CCDS8782.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341431	0.81911	.	.	ENSG00000167553	ENST00000541364;ENST00000301072;ENST00000549183;ENST00000321665	T;T;T	0.70282	-0.47;-0.47;-0.47	3.99	3.99	0.46301	Tubulin/FtsZ, GTPase domain (4);	0.130230	0.51477	D	0.000084	D	0.85961	0.5819	M	0.93638	3.44	0.51767	D	0.999932	P;B	0.51351	0.944;0.17	P;B	0.58331	0.837;0.107	D	0.90081	0.4170	10	0.87932	D	0	.	16.0532	0.80777	0.0:0.0:1.0:0.0	.	175;105	F5H5D3;Q9BQE3	.;TBA1C_HUMAN	Q	175;105;105;105	ENSP00000443475:R175Q;ENSP00000301072:R105Q;ENSP00000448211:R105Q	ENSP00000301072:R105Q	R	+	2	0	TUBA1C	47949965	1.000000	0.71417	0.970000	0.41538	0.992000	0.81027	9.391000	0.97249	2.504000	0.84457	0.455000	0.32223	CGA		0.483	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704	
MAP3K12	7786	hgsc.bcm.edu	37	12	53877728	53877728	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:53877728T>C	ENST00000267079.2	-	9	1451	c.1226A>G	c.(1225-1227)gAg>gGg	p.E409G	MAP3K12_ENST00000547035.1_Missense_Mutation_p.E442G|MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547488.1_Missense_Mutation_p.E442G	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	409	Leucine-zipper 1.		E -> K (in a breast pleomorphic lobular carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.E409G(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CACCAGTTCCTCTTCTAGGCG	0.512																																																	1	Substitution - Missense(1)	large_intestine(1)	12											192.0	185.0	187.0					12																	53877728		2203	4300	6503	52163995	SO:0001583	missense	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1226A>G	12.37:g.53877728T>C	ENSP00000267079:p.Glu409Gly		52163995	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.910583	0.92107	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.79247	-1.23;-1.25;-1.25	4.85	4.85	0.62838	Protein kinase-like domain (1);	0.149661	0.31268	N	0.007941	D	0.84800	0.5552	M	0.66939	2.045	0.80722	D	1	D;D	0.58970	0.984;0.972	P;P	0.61201	0.885;0.771	D	0.86699	0.1928	10	0.87932	D	0	.	13.8578	0.63540	0.0:0.0:0.0:1.0	.	442;409	G3V1Y2;Q12852	.;M3K12_HUMAN	G	409;442;442	ENSP00000267079:E409G;ENSP00000449038:E442G;ENSP00000448689:E442G	ENSP00000267079:E409G	E	-	2	0	MAP3K12	52163995	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.636000	0.83301	2.180000	0.69256	0.379000	0.24179	GAG		0.512	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301	
TPH2	121278	hgsc.bcm.edu	37	12	72335393	72335393	+	Silent	SNP	C	C	T	rs74510566		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:72335393C>T	ENST00000333850.3	+	2	276	c.135C>T	c.(133-135)gaC>gaT	p.D45D	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	45					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.D45D(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCAAAAATGACGACAAAGGCA	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		6803	0.0		0.001	False		,,,				2504	0.0																2	Substitution - coding silent(2)	ovary(1)|lung(1)	12											82.0	76.0	78.0					12																	72335393		2203	4300	6503	70621660	SO:0001819	synonymous_variant	121278			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.135C>T	12.37:g.72335393C>T			70621660	A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	CCDS31859.1																																																																																				0.393	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353	
PHLDA1	22822	hgsc.bcm.edu	37	12	76425433	76425433	+	Missense_Mutation	SNP	A	A	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:76425433A>T	ENST00000266671.5	-	1	2279	c.89T>A	c.(88-90)gTc>gAc	p.V30D	RP11-290L1.2_ENST00000547721.1_RNA|RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_5'Flank			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	30					apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CCCCCGAGTGACACCCAGCGG	0.706																																																	0			12											4.0	5.0	5.0					12																	76425433		1904	4016	5920	74711700	SO:0001583	missense	22822			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"""proline-histidine rich protein"""	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.89T>A	12.37:g.76425433A>T	ENSP00000266671:p.Val30Asp		74711700	A1A4G9|Q15184|Q2TAN2|Q9NZ17	Missense_Mutation	SNP	ENST00000266671.5	37	CCDS31861.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436775	0.83885	.	.	ENSG00000139289	ENST00000266671	T	0.58210	0.35	4.71	4.71	0.59529	.	.	.	.	.	T	0.59715	0.2214	L	0.29908	0.895	0.51767	D	0.999933	D	0.76494	0.999	D	0.85130	0.997	T	0.63620	-0.6596	9	0.87932	D	0	-7.1392	11.66	0.51341	1.0:0.0:0.0:0.0	.	30	Q8WV24	PHLA1_HUMAN	D	30	ENSP00000266671:V30D	ENSP00000266671:V30D	V	-	2	0	PHLDA1	74711700	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.444000	0.35068	1.973000	0.57446	0.402000	0.26972	GTC		0.706	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2	NM_007350	
CUX2	23316	hgsc.bcm.edu	37	12	111701582	111701582	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:111701582G>C	ENST00000261726.6	+	4	394	c.240G>C	c.(238-240)aaG>aaC	p.K80N	CUX2_ENST00000551604.2_3'UTR	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	80					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCTTAGTAAGAGAAGTCAGG	0.423																																																	0			12											184.0	187.0	186.0					12																	111701582		1909	4132	6041	110185965	SO:0001583	missense	23316			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.240G>C	12.37:g.111701582G>C	ENSP00000261726:p.Lys80Asn		110185965	A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118947	0.56505	.	.	ENSG00000111249	ENST00000261726;ENST00000397643;ENST00000552889	T	0.59638	0.25	5.92	0.693	0.18056	.	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	M	0.64170	1.965	0.37060	D	0.89801	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.67898	-0.5551	10	0.40728	T	0.16	-30.474	10.0522	0.42223	0.5019:0.0:0.4981:0.0	.	140;80	F5GWR6;O14529	.;CUX2_HUMAN	N	80;140;18	ENSP00000261726:K80N	ENSP00000261726:K80N	K	+	3	2	CUX2	110185965	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.881000	0.39638	0.060000	0.16281	-0.258000	0.10820	AAG		0.423	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	
TMEM132B	114795	hgsc.bcm.edu	37	12	126138807	126138807	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:126138807A>G	ENST00000299308.3	+	9	2796	c.2788A>G	c.(2788-2790)Agg>Ggg	p.R930G	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R442G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	930						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGACACAAAAGGTTTGCTGT	0.502																																																	0			12											106.0	105.0	105.0					12																	126138807		2031	4202	6233	124704760	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2788A>G	12.37:g.126138807A>G	ENSP00000299308:p.Arg930Gly		124704760	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338885	0.60963	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.10960	3.61;2.82	5.54	4.38	0.52667	.	0.000000	0.64402	D	0.000001	T	0.12987	0.0315	L	0.56199	1.76	0.44289	D	0.997156	P	0.41848	0.763	B	0.39027	0.288	T	0.01596	-1.1316	10	0.56958	D	0.05	.	12.7078	0.57070	0.8623:0.1377:0.0:0.0	.	930	Q14DG7	T132B_HUMAN	G	930;442	ENSP00000299308:R930G;ENSP00000440436:R442G	ENSP00000299308:R930G	R	+	1	2	TMEM132B	124704760	1.000000	0.71417	0.957000	0.39632	0.980000	0.70556	4.422000	0.59854	0.905000	0.36596	0.533000	0.62120	AGG		0.502	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
TMEM132D	121256	hgsc.bcm.edu	37	12	130184522	130184522	+	Silent	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:130184522G>A	ENST00000422113.2	-	2	1127	c.801C>T	c.(799-801)atC>atT	p.I267I	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	267					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.I267I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGATGCTCCCGATCCTCTGCA	0.572																																																	1	Substitution - coding silent(1)	ovary(1)	12											92.0	82.0	86.0					12																	130184522		2203	4300	6503	128750475	SO:0001819	synonymous_variant	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.801C>T	12.37:g.130184522G>A			128750475	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																				0.572	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
EP400	57634	hgsc.bcm.edu	37	12	132446294	132446294	+	Missense_Mutation	SNP	A	A	G	rs200853343		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:132446294A>G	ENST00000333577.4	+	2	1239	c.1130A>G	c.(1129-1131)cAg>cGg	p.Q377R	EP400_ENST00000332482.4_Missense_Mutation_p.Q377R|EP400_ENST00000389561.2_Missense_Mutation_p.Q377R|EP400_ENST00000330386.6_Missense_Mutation_p.Q377R|EP400_ENST00000389562.2_Missense_Mutation_p.Q377R			Q96L91	EP400_HUMAN	E1A binding protein p400	377					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGATGCAGGCTCTGAAG	0.448																																																	0			12						A	ARG/GLN	0,4406		0,0,2203	127.0	107.0	114.0		1130	5.5	1.0	12		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	EP400	NM_015409.4	43	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	377/3124	132446294	1,13005	2203	4300	6503	131012247	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1130A>G	12.37:g.132446294A>G	ENSP00000333602:p.Gln377Arg		131012247	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	A	11.31	1.602270	0.28534	0.0	1.16E-4	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.88975	-2.39;-2.45;-2.45;-2.45;-2.45	5.48	5.48	0.80851	.	0.213241	0.48286	D	0.000193	T	0.77343	0.4116	N	0.08118	0	0.30361	N	0.783792	B;B;B;B;B	0.26547	0.152;0.152;0.152;0.019;0.152	B;B;B;B;B	0.25614	0.036;0.036;0.036;0.062;0.036	T	0.67875	-0.5557	10	0.11182	T	0.66	.	15.5655	0.76287	1.0:0.0:0.0:0.0	.	377;377;377;377;377	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	R	377	ENSP00000333602:Q377R;ENSP00000374212:Q377R;ENSP00000374213:Q377R;ENSP00000331737:Q377R;ENSP00000330620:Q377R	ENSP00000330620:Q377R	Q	+	2	0	EP400	131012247	1.000000	0.71417	0.977000	0.42913	0.684000	0.39900	8.962000	0.93254	2.090000	0.63153	0.459000	0.35465	CAG		0.448	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
OR4N4	283694	hgsc.bcm.edu	37	15	22382522	22382522	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr15:22382522T>C	ENST00000328795.4	+	1	141	c.50T>C	c.(49-51)cTg>cCg	p.L17P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCCTTGGTCTGACTCAGTCT	0.353																																																	0			15											139.0	135.0	137.0					15																	22382522		2187	4260	6447	19883886	SO:0001583	missense	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.50T>C	15.37:g.22382522T>C	ENSP00000332500:p.Leu17Pro		19883886	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	8.244	0.807557	0.16467	.	.	ENSG00000183706	ENST00000328795	T	0.00344	8.02	3.24	3.24	0.37175	.	0.000000	0.37857	N	0.001901	T	0.01061	0.0035	H	0.94658	3.565	0.22412	N	0.999123	D	0.89917	1.0	D	0.83275	0.996	T	0.14420	-1.0473	10	0.87932	D	0	-8.0908	9.793	0.40717	0.0:0.0:0.0:1.0	.	17	Q8N0Y3	OR4N4_HUMAN	P	17	ENSP00000332500:L17P	ENSP00000332500:L17P	L	+	2	0	OR4N4	19883886	0.081000	0.21417	0.160000	0.22671	0.108000	0.19459	2.867000	0.48428	1.465000	0.48006	0.164000	0.16699	CTG		0.353	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1		
ATP10A	57194	hgsc.bcm.edu	37	15	25959224	25959224	+	Silent	SNP	G	G	A	rs116609652	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr15:25959224G>A	ENST00000356865.6	-	10	2052	c.1941C>T	c.(1939-1941)agC>agT	p.S647S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	647					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCATGCCGTCGCTGGACGGGG	0.682													G|||	10	0.00199681	0.0	0.0	5008	,	,		16683	0.0099		0.0	False		,,,				2504	0.0																0			15											41.0	45.0	44.0					15																	25959224		2203	4300	6503	23510317	SO:0001819	synonymous_variant	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1941C>T	15.37:g.25959224G>A			23510317	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																				0.682	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
ZNF280D	54816	hgsc.bcm.edu	37	15	56950659	56950659	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr15:56950659T>C	ENST00000267807.7	-	17	2236	c.2020A>G	c.(2020-2022)Agg>Ggg	p.R674G	ZNF280D_ENST00000559237.1_Missense_Mutation_p.R661G|ZNF280D_ENST00000396245.1_Missense_Mutation_p.R378G|ZNF280D_ENST00000559000.1_Missense_Mutation_p.R661G	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	674					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.R674R(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		ATACAAAACCTTTTGCTTGGA	0.254																																																	1	Substitution - coding silent(1)	large_intestine(1)	15											53.0	58.0	56.0					15																	56950659		2191	4287	6478	54737951	SO:0001583	missense	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2020A>G	15.37:g.56950659T>C	ENSP00000267807:p.Arg674Gly		54737951	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166536	0.78339	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03663	3.85;4.21	5.31	5.31	0.75309	.	2.874010	0.00718	N	0.000873	T	0.20129	0.0484	M	0.66939	2.045	0.35827	D	0.825048	D;D	0.67145	0.996;0.996	D;D	0.65987	0.94;0.94	T	0.00015	-1.2392	10	0.87932	D	0	-14.8862	12.9963	0.58648	0.0:0.0:0.0:1.0	.	737;674	B4DHL1;Q6N043	.;Z280D_HUMAN	G	674;661;378	ENSP00000267807:R674G;ENSP00000379545:R378G	ENSP00000267807:R674G	R	-	1	2	ZNF280D	54737951	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.055000	0.64282	2.010000	0.58986	0.416000	0.27883	AGG		0.254	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867	
MYO1E	4643	hgsc.bcm.edu	37	15	59455418	59455418	+	Silent	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr15:59455418G>A	ENST00000288235.4	-	23	2964	c.2565C>T	c.(2563-2565)agC>agT	p.S855S		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	855	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.S855S(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)		TTGCTAAGAGGCTTAGGAATT	0.433																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	15											114.0	101.0	105.0					15																	59455418		2191	4291	6482	57242710	SO:0001819	synonymous_variant	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.2565C>T	15.37:g.59455418G>A			57242710	Q14778	Silent	SNP	ENST00000288235.4	37	CCDS32254.1																																																																																				0.433	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998	
HERC1	8925	hgsc.bcm.edu	37	15	63952073	63952073	+	Silent	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr15:63952073A>G	ENST00000443617.2	-	47	9373	c.9286T>C	c.(9286-9288)Tta>Cta	p.L3096L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3096					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCAGCAAGTAATTCAAATTCT	0.408																																																	0			15											78.0	73.0	75.0					15																	63952073		1888	4114	6002	61739126	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9286T>C	15.37:g.63952073A>G			61739126	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																				0.408	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
WDR61	80349	hgsc.bcm.edu	37	15	78581978	78581978	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr15:78581978A>G	ENST00000267973.2	-	7	816	c.545T>C	c.(544-546)cTt>cCt	p.L182P	WDR61_ENST00000558311.1_Missense_Mutation_p.L182P|WDR61_ENST00000558459.1_Missense_Mutation_p.L89P			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	182					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GGTATGCAGAAGTTTTCCAGT	0.348																																																	0			15											78.0	76.0	77.0					15																	78581978		2196	4293	6489	76369033	SO:0001583	missense	80349				CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"""WD repeat domain containing"""	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.545T>C	15.37:g.78581978A>G	ENSP00000267973:p.Leu182Pro		76369033	D3DW84|Q6IA22|Q7Z4X4	Missense_Mutation	SNP	ENST00000267973.2	37	CCDS10300.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.481188	0.84747	.	.	ENSG00000140395	ENST00000267973	T	0.59502	0.26	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.056292	0.64402	D	0.000001	T	0.71126	0.3303	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69139	-0.5224	10	0.34782	T	0.22	-8.0166	15.197	0.73100	1.0:0.0:0.0:0.0	.	182	Q9GZS3	WDR61_HUMAN	P	182	ENSP00000267973:L182P	ENSP00000267973:L182P	L	-	2	0	WDR61	76369033	1.000000	0.71417	0.985000	0.45067	0.983000	0.72400	9.116000	0.94341	2.195000	0.70347	0.482000	0.46254	CTT		0.348	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	NM_025234	
MSL3	10943	hgsc.bcm.edu	37	X	11783633	11783633	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:11783633C>T	ENST00000312196.4	+	9	1061	c.956C>T	c.(955-957)aCg>aTg	p.T319M	MSL3_ENST00000398527.2_Missense_Mutation_p.T307M|MSL3_ENST00000337339.2_Missense_Mutation_p.T319M|MSL3_ENST00000380693.3_Missense_Mutation_p.T153M|MSL3_ENST00000361672.2_Missense_Mutation_p.T170M	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	319	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						AATCCATCCACGCCACAGTCC	0.577																																																	0			X											113.0	104.0	107.0					X																	11783633		2203	4300	6503	11693554	SO:0001583	missense	10943			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.956C>T	X.37:g.11783633C>T	ENSP00000312244:p.Thr319Met		11693554	A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315976	0.81469	.	.	ENSG00000005302	ENST00000312196;ENST00000337339;ENST00000361672;ENST00000398527;ENST00000380693;ENST00000380692	T;T;T;T;T;T	0.13196	3.07;3.09;2.71;2.88;2.72;2.61	4.61	4.61	0.57282	.	0.157660	0.56097	D	0.000035	T	0.38161	0.1030	M	0.76574	2.34	0.54753	D	0.999989	D;D;D;D;D	0.89917	0.999;0.983;0.998;0.999;1.0	P;P;P;D;D	0.73380	0.903;0.595;0.674;0.95;0.98	T	0.27640	-1.0068	10	0.52906	T	0.07	.	17.0067	0.86395	0.0:1.0:0.0:0.0	.	307;170;260;319;319	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2;A6NHW8	.;.;.;MS3L1_HUMAN;.	M	319;319;170;307;153;153	ENSP00000312244:T319M;ENSP00000338078:T319M;ENSP00000354562:T170M;ENSP00000381538:T307M;ENSP00000370069:T153M;ENSP00000370068:T153M	ENSP00000312244:T319M	T	+	2	0	MSL3	11693554	1.000000	0.71417	0.995000	0.50966	0.928000	0.56348	6.436000	0.73417	2.021000	0.59480	0.600000	0.82982	ACG		0.577	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800	
FRMPD4	9758	hgsc.bcm.edu	37	X	12701706	12701706	+	Splice_Site	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:12701706G>A	ENST00000380682.1	+	6	1079	c.573G>A	c.(571-573)tcG>tcA	p.S191S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	191					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.S191S(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GCCAAGTGTCGGTGAGTTTAC	0.448																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	X											96.0	73.0	81.0					X																	12701706		2203	4300	6503	12611627	SO:0001630	splice_region_variant	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.573+1G>A	X.37:g.12701706G>A			12611627	A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				0.448	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	Silent
ATXN3L	92552	hgsc.bcm.edu	37	X	13337617	13337617	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:13337617G>A	ENST00000380622.2	-	1	901	c.437C>T	c.(436-438)aCa>aTa	p.T146I	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	146	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGCAAGGCATGTATCTGATAT	0.373																																																	0			X											64.0	61.0	62.0					X																	13337617		1568	3582	5150	13247538	SO:0001583	missense	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.437C>T	X.37:g.13337617G>A	ENSP00000369996:p.Thr146Ile		13247538	B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257742	0.22965	.	.	ENSG00000123594	ENST00000380622	T	0.45668	0.89	0.661	-1.32	0.09201	.	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	M	0.84585	2.705	0.52501	D	0.99995	D	0.58268	0.982	D	0.72338	0.977	T	0.52909	-0.8512	10	0.87932	D	0	.	2.9331	0.05805	0.211:0.0:0.5345:0.2545	.	146	Q9H3M9	ATX3L_HUMAN	I	146	ENSP00000369996:T146I	ENSP00000369996:T146I	T	-	2	0	ATXN3L	13247538	1.000000	0.71417	0.001000	0.08648	0.003000	0.03518	2.426000	0.44731	-1.311000	0.02309	-1.788000	0.00630	ACA		0.373	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995	
PDHA1	5160	hgsc.bcm.edu	37	X	19373556	19373556	+	Silent	SNP	G	G	A	rs138237215	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:19373556G>A	ENST00000422285.2	+	7	798	c.693G>A	c.(691-693)acG>acA	p.T231T	PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000540249.1_Silent_p.T200T|PDHA1_ENST00000545074.1_Silent_p.T238T|PDHA1_ENST00000379806.5_Silent_p.T269T			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	231			T -> A (in PDHAD). {ECO:0000269|PubMed:8504306}.		acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					GAATGGGAACGTCTGTTGAGA	0.498													G|||	2	0.000529801	0.0	0.0	3775	,	,		13578	0.0		0.0	False		,,,				2504	0.002																0			X						G	,,,	0,3835		0,0,0,1632,571	126.0	121.0	123.0		693,807,714,600	-11.5	0.2	X	dbSNP_134	123	6,6722		0,3,3,2425,1869	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDHA1	NM_000284.3,NM_001173454.1,NM_001173455.1,NM_001173456.1	,,,	0,3,3,4057,2440	AA,AG,A,GG,G		0.0892,0.0,0.0568	,,,	231/391,269/429,238/398,200/360	19373556	6,10557	2203	4300	6503	19283477	SO:0001819	synonymous_variant	5160				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.693G>A	X.37:g.19373556G>A			19283477	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	ENST00000422285.2	37	CCDS14192.1																																																																																				0.498	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1		
CXorf23	256643	hgsc.bcm.edu	37	X	19971168	19971168	+	Splice_Site	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:19971168T>C	ENST00000379682.4	-	6	1600	c.1567A>G	c.(1567-1569)Aga>Gga	p.R523G	CXorf23_ENST00000356980.3_Splice_Site_p.R523G|CXorf23_ENST00000379687.3_Splice_Site_p.R523G			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	523						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						ATATCTATTCTCCTAAAATAA	0.303																																																	0			X											57.0	57.0	57.0					X																	19971168		2203	4300	6503	19881089	SO:0001630	splice_region_variant	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1566-1A>G	X.37:g.19971168T>C			19881089	A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.56|16.56	3.157788|3.157788	0.57368|0.57368	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000340625|ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	.|T;T;T	.|0.28454	.|1.61;1.61;1.61	5.97|5.97	4.8|4.8	0.61643|0.61643	.|.	.|.	.|.	.|.	.|.	T|T	0.52853|0.52853	0.1760|0.1760	M|M	0.78049|0.78049	2.395|2.395	0.32874|0.32874	D|D	0.509621|0.509621	.|D;D;D	.|0.69078	.|0.997;0.997;0.997	.|D;D;D	.|0.65443	.|0.935;0.913;0.913	T|T	0.66139|0.66139	-0.5998|-0.5998	5|8	.|.	.|.	.|.	.|.	11.0422|11.0422	0.47838|0.47838	0.0:0.0:0.1575:0.8425|0.0:0.0:0.1575:0.8425	.|.	.|234;523;523	.|B7ZLM9;A2AJT9-2;A2AJT9	.|.;.;CX023_HUMAN	G|G	131|523;523;523;411	.|ENSP00000369009:R523G;ENSP00000369004:R523G;ENSP00000349470:R523G	.|.	E|R	-|-	2|1	0|2	CXorf23|CXorf23	19881089|19881089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	2.148000|2.148000	0.42235|0.42235	0.850000|0.850000	0.35239|0.35239	0.486000|0.486000	0.48141|0.48141	GAG|AGA		0.303	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279	Missense_Mutation
PDK3	5165	hgsc.bcm.edu	37	X	24537111	24537111	+	Silent	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:24537111A>G	ENST00000379162.4	+	6	892	c.657A>G	c.(655-657)gaA>gaG	p.E219E	PDK3_ENST00000441463.2_Silent_p.E219E|AC004656.1_ENST00000580722.1_RNA	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	219	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.		E -> A (in a head & neck squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CAGAGCTGGAAGTTGAAGAAT	0.363																																																	0			X											80.0	71.0	74.0					X																	24537111		2203	4300	6503	24447032	SO:0001819	synonymous_variant	5165			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.657A>G	X.37:g.24537111A>G			24447032	B4DXG6	Silent	SNP	ENST00000379162.4	37	CCDS14212.1																																																																																				0.363	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391	
FAM47A	158724	hgsc.bcm.edu	37	X	34150181	34150181	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:34150181C>T	ENST00000346193.3	-	1	266	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	72								p.R72H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTCGTCACGGCGACAAACGAG	0.537																																																	1	Substitution - Missense(1)	ovary(1)	X											89.0	84.0	86.0					X																	34150181		2202	4300	6502	34060102	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.215G>A	X.37:g.34150181C>T	ENSP00000345029:p.Arg72His		34060102	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	3.358	-0.131099	0.06753	.	.	ENSG00000185448	ENST00000346193	T	0.21191	2.02	1.17	1.17	0.20885	.	.	.	.	.	T	0.13415	0.0325	L	0.57536	1.79	0.09310	N	1	P	0.38280	0.625	B	0.24974	0.057	T	0.18023	-1.0350	9	0.14252	T	0.57	.	5.3637	0.16101	0.0:1.0:0.0:0.0	.	72	Q5JRC9	FA47A_HUMAN	H	72	ENSP00000345029:R72H	ENSP00000345029:R72H	R	-	2	0	FAM47A	34060102	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.184000	0.09698	0.880000	0.35969	0.544000	0.68410	CGC		0.537	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
EBP	10682	hgsc.bcm.edu	37	X	48382320	48382320	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:48382320C>T	ENST00000495186.1	+	2	984	c.161C>T	c.(160-162)gCg>gTg	p.A54V	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	54					cholesterol biosynthetic process (GO:0006695)|cholesterol metabolic process (GO:0008203)|drug transmembrane transport (GO:0006855)|hemopoiesis (GO:0030097)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	C-8 sterol isomerase activity (GO:0000247)|cholestenol delta-isomerase activity (GO:0047750)|drug transmembrane transporter activity (GO:0015238)|steroid delta-isomerase activity (GO:0004769)|transmembrane signaling receptor activity (GO:0004888)	p.A54V(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11					Tamoxifen(DB00675)	GGTCGTGCTGCGGTTGTCCCA	0.562																																					Ovarian(41;550 1000 33077 33474 52335)												1	Substitution - Missense(1)	ovary(1)	X											196.0	163.0	175.0					X																	48382320		2203	4300	6503	48267264	SO:0001583	missense	152503			Z37986	CCDS14300.1	Xp11.23-p11.22	2013-05-22	2001-11-28		ENSG00000147155	ENSG00000147155			3133	protein-coding gene	gene with protein product	"""3-beta-hydroxysteroid-delta-8,delta-7-isomerase"", ""Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)"", ""sterol 8-isomerase"""	300205	"""emopamil-binding protein (sterol isomerase)"""	CDPX2		7706302, 8938429	Standard	NM_006579		Approved	CPX, CPXD, CHO2	uc004djx.4	Q15125	OTTHUMG00000034482	ENST00000495186.1:c.161C>T	X.37:g.48382320C>T	ENSP00000417052:p.Ala54Val		48267264	Q6FGL3|Q6IBI9	Missense_Mutation	SNP	ENST00000495186.1	37	CCDS14300.1	.	.	.	.	.	.	.	.	.	.	C	5.660	0.306331	0.10733	.	.	ENSG00000147155	ENST00000495186;ENST00000446158;ENST00000414061	D;D;D	0.97772	-4.53;-4.53;-4.53	5.72	2.86	0.33363	.	0.593501	0.17274	N	0.180272	D	0.91513	0.7320	N	0.16790	0.44	0.09310	N	1	B	0.23185	0.081	B	0.17722	0.019	T	0.82362	-0.0495	10	0.16420	T	0.52	-4.3153	4.5869	0.12287	0.1512:0.6114:0.1457:0.0917	.	54	Q15125	EBP_HUMAN	V	54	ENSP00000417052:A54V;ENSP00000390031:A54V;ENSP00000405832:A54V	ENSP00000405832:A54V	A	+	2	0	EBP	48267264	0.022000	0.18835	0.581000	0.28614	0.112000	0.19704	1.428000	0.34892	1.190000	0.43042	0.536000	0.68110	GCG		0.562	EBP-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083372.1	NM_006579	
CCNB3	85417	hgsc.bcm.edu	37	X	50053208	50053208	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:50053208T>C	ENST00000376042.1	+	6	2337	c.2039T>C	c.(2038-2040)gTt>gCt	p.V680A	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.V680A			Q8WWL7	CCNB3_HUMAN	cyclin B3	680					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCATTGCATGTTAAGCATACC	0.468																																																	0			X											35.0	29.0	31.0					X																	50053208		2203	4300	6503	50069948	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2039T>C	X.37:g.50053208T>C	ENSP00000365210:p.Val680Ala		50069948	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.953633	0.34471	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.37058	1.22;1.22	4.19	-1.46	0.08800	.	.	.	.	.	T	0.16514	0.0397	N	0.16478	0.41	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.24225	-1.0166	8	.	.	.	.	2.7077	0.05166	0.4249:0.2538:0.0:0.3213	.	680	Q8WWL7	CCNB3_HUMAN	A	680	ENSP00000365210:V680A;ENSP00000276014:V680A	.	V	+	2	0	CCNB3	50069948	0.000000	0.05858	0.000000	0.03702	0.545000	0.35147	-0.905000	0.04075	-0.374000	0.07967	0.486000	0.48141	GTT		0.468	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
LPAR4	2846	hgsc.bcm.edu	37	X	78010951	78010951	+	Silent	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:78010951T>C	ENST00000435339.3	+	2	971	c.585T>C	c.(583-585)cgT>cgC	p.R195R		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	195					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TCTCCAAACGTGTCTGGAAGA	0.413																																																	0			X											87.0	78.0	81.0					X																	78010951		2202	4299	6501	77897607	SO:0001819	synonymous_variant	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.585T>C	X.37:g.78010951T>C			77897607	B2RAC7|O15132|Q502U9|Q6NSP5	Silent	SNP	ENST00000435339.3	37	CCDS14441.1																																																																																				0.413	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296	
CYLC1	1538	hgsc.bcm.edu	37	X	83128419	83128419	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:83128419T>C	ENST00000329312.4	+	4	740	c.703T>C	c.(703-705)Tca>Cca	p.S235P		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	235					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGATCCCATATCAGAGATTTG	0.328																																																	0			X											33.0	30.0	31.0					X																	83128419		2192	4289	6481	83015075	SO:0001583	missense	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.703T>C	X.37:g.83128419T>C	ENSP00000331556:p.Ser235Pro		83015075	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	t	9.537	1.112407	0.20795	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.60548	0.18	4.13	2.97	0.34412	.	.	.	.	.	T	0.62720	0.2451	L	0.46157	1.445	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.64410	0.925;0.925	T	0.48779	-0.9005	9	0.42905	T	0.14	-0.5689	5.5601	0.17140	0.0:0.1253:0.0:0.8747	.	235;235	P35663;F5H4V5	CYLC1_HUMAN;.	P	235	ENSP00000331556:S235P	ENSP00000331556:S235P	S	+	1	0	CYLC1	83015075	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.354000	0.20146	0.716000	0.32124	-0.466000	0.05196	TCA		0.328	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118	
ZMAT1	84460	hgsc.bcm.edu	37	X	101138644	101138644	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:101138644T>A	ENST00000372782.3	-	7	1802	c.1755A>T	c.(1753-1755)agA>agT	p.R585S	ZMAT1_ENST00000540921.1_Missense_Mutation_p.R585S|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R414S	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	585						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGACCTTGACTCTATCCTCCT	0.388																																																	0			X											232.0	194.0	207.0					X																	101138644		2203	4300	6503	101025300	SO:0001583	missense	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1755A>T	X.37:g.101138644T>A	ENSP00000361868:p.Arg585Ser		101025300	Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	T	8.106	0.777737	0.16120	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.21543	2.59;2.59;2.0	4.27	3.08	0.35506	.	1.576670	0.03473	N	0.213973	T	0.13372	0.0324	N	0.08118	0	0.09310	N	0.999999	B	0.19445	0.036	B	0.12156	0.007	T	0.22765	-1.0207	10	0.48119	T	0.1	-4.693	7.8355	0.29368	0.0:0.0:0.4184:0.5816	.	585	Q5H9K5	ZMAT1_HUMAN	S	585;585;414	ENSP00000361868:R585S;ENSP00000437529:R585S;ENSP00000413044:R414S	ENSP00000361868:R585S	R	-	3	2	ZMAT1	101025300	0.011000	0.17503	0.542000	0.28115	0.377000	0.30045	1.635000	0.37134	0.743000	0.32719	0.486000	0.48141	AGA		0.388	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1		
SLC25A53	401612	hgsc.bcm.edu	37	X	103349157	103349157	+	Missense_Mutation	SNP	G	G	A	rs12863544		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:103349157G>A	ENST00000357421.4	-	2	964	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	262					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TTTCGGCCCCGAGTGTTCCAT	0.542																																																	0			X											56.0	46.0	50.0					X																	103349157		2203	4300	6503	103235813	SO:0001583	missense	401612				CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.784C>T	X.37:g.103349157G>A	ENSP00000361681:p.Arg262Trp		103235813	B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	g	7.824	0.718495	0.15372	.	.	ENSG00000176274	ENST00000357421	T	0.78816	-1.21	4.23	2.35	0.29111	Mitochondrial carrier domain (2);	0.069586	0.56097	D	0.000031	T	0.71256	0.3318	M	0.64170	1.965	0.37753	D	0.926046	B	0.19445	0.036	B	0.06405	0.002	T	0.67829	-0.5569	10	0.66056	D	0.02	-23.1756	8.475	0.33007	0.0:0.0:0.5823:0.4177	rs12863544	262	Q5H9E4	MCAR6_HUMAN	W	262	ENSP00000361681:R262W	ENSP00000361681:R262W	R	-	1	2	MCART6	103235813	0.898000	0.30612	1.000000	0.80357	0.300000	0.27592	1.130000	0.31393	0.315000	0.23110	0.594000	0.82650	CGG		0.542	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755	
COL4A5	1287	hgsc.bcm.edu	37	X	107898654	107898654	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:107898654G>A	ENST00000361603.2	+	37	3584	c.3340G>A	c.(3340-3342)Gca>Aca	p.A1114T	COL4A5_ENST00000328300.6_Missense_Mutation_p.A1114T	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1114	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AACCCCTGGAGCAAAAGGACA	0.498									Alport syndrome with Diffuse Leiomyomatosis																																								0			X											71.0	68.0	69.0					X																	107898654		2203	4300	6503	107785310	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3340G>A	X.37:g.107898654G>A	ENSP00000354505:p.Ala1114Thr		107785310	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004819	0.35320	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93366	-3.21;-3.21	5.41	2.42	0.29668	.	0.364418	0.26903	N	0.021918	D	0.83926	0.5360	N	0.17564	0.495	0.32876	D	0.509916	B;B	0.21606	0.058;0.058	B;B	0.16289	0.015;0.015	T	0.76841	-0.2810	10	0.14252	T	0.57	.	9.3272	0.37999	0.0792:0.3941:0.5267:0.0	.	1114;1114	E7EVY4;P29400	.;CO4A5_HUMAN	T	1114	ENSP00000331902:A1114T;ENSP00000354505:A1114T	ENSP00000331902:A1114T	A	+	1	0	COL4A5	107785310	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.409000	0.34680	0.547000	0.28938	0.594000	0.82650	GCA		0.498	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
AGTR2	186	hgsc.bcm.edu	37	X	115304583	115304583	+	Silent	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:115304583G>A	ENST00000371906.4	+	3	1240	c.1050G>A	c.(1048-1050)cgG>cgA	p.R350R		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	350					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TGTCTTGCCGGAAAAGCAGTT	0.433																																																	0			X											90.0	85.0	87.0					X																	115304583		2203	4300	6503	115218611	SO:0001819	synonymous_variant	186			AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.1050G>A	X.37:g.115304583G>A			115218611	B2R9V1|Q13016|Q6FGY7	Silent	SNP	ENST00000371906.4	37	CCDS14569.1																																																																																				0.433	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686	
GPR112	139378	hgsc.bcm.edu	37	X	135427479	135427479	+	Silent	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:135427479C>T	ENST00000394143.1	+	6	1905	c.1614C>T	c.(1612-1614)ccC>ccT	p.P538P	GPR112_ENST00000394141.1_Silent_p.P333P|GPR112_ENST00000370652.1_Silent_p.P538P|GPR112_ENST00000287534.4_Silent_p.P475P|GPR112_ENST00000412101.1_Silent_p.P333P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	538					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTCTTTACCCAGAGTGGAAG	0.428																																																	0			X											61.0	56.0	58.0					X																	135427479		2202	4300	6502	135255145	SO:0001819	synonymous_variant	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1614C>T	X.37:g.135427479C>T			135255145	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																				0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
MAGEC1	9947	hgsc.bcm.edu	37	X	140996359	140996359	+	Missense_Mutation	SNP	C	C	T	rs141172739	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:140996359C>T	ENST00000285879.4	+	4	3455	c.3169C>T	c.(3169-3171)Cgg>Tgg	p.R1057W	MAGEC1_ENST00000406005.2_Missense_Mutation_p.R124W	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1057	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R1057G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTAGAGTACCGGGAGGTGCC	0.522										HNSCC(15;0.026)			C|||	20	0.00529801	0.0136	0.0029	3775	,	,		13558	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	X						C	TRP/ARG	58,3777		0,53,5,1579,566	104.0	101.0	102.0		3169	0.8	0.0	X	dbSNP_134	102	1,6727		0,1,0,2427,1872	yes	missense	MAGEC1	NM_005462.4	101	0,54,5,4006,2438	TT,TC,T,CC,C		0.0149,1.5124,0.5586	probably-damaging	1057/1143	140996359	59,10504	2203	4300	6503	140824025	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3169C>T	X.37:g.140996359C>T	ENSP00000285879:p.Arg1057Trp		140824025	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	8	0.004822182037371911	7	0.014285714285714285	0	0.0	0	0.0	0	0.0	c	9.304	1.053853	0.19907	0.015124	1.49E-4	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.06449	3.3;3.3	0.837	0.837	0.18896	.	.	.	.	.	T	0.08846	0.0219	M	0.75615	2.305	0.09310	N	1	D	0.76494	0.999	P	0.60286	0.872	T	0.03922	-1.0992	8	0.66056	D	0.02	.	.	.	.	.	1057	O60732	MAGC1_HUMAN	W	1057;124	ENSP00000285879:R1057W;ENSP00000385500:R124W	ENSP00000285879:R1057W	R	+	1	2	MAGEC1	140824025	0.001000	0.12720	0.002000	0.10522	0.190000	0.23558	0.267000	0.18552	0.696000	0.31696	0.279000	0.19357	CGG		0.522	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
PASD1	139135	hgsc.bcm.edu	37	X	150842515	150842515	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:150842515T>C	ENST00000370357.4	+	15	2277	c.2032T>C	c.(2032-2034)Tca>Cca	p.S678P		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	678						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AACTTCAGACTCAACCATAAG	0.493																																																	0			X											127.0	114.0	118.0					X																	150842515		2203	4300	6503	150593171	SO:0001583	missense	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2032T>C	X.37:g.150842515T>C	ENSP00000359382:p.Ser678Pro		150593171	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.191955	0.38707	.	.	ENSG00000166049	ENST00000370357	T	0.47528	0.84	3.15	-0.63	0.11530	.	.	.	.	.	T	0.28167	0.0695	L	0.27053	0.805	0.09310	N	1	B	0.17465	0.022	B	0.18871	0.023	T	0.30736	-0.9968	9	0.87932	D	0	-8.3229	0.4415	0.00487	0.2181:0.1349:0.2212:0.4257	.	678	Q8IV76	PASD1_HUMAN	P	678	ENSP00000359382:S678P	ENSP00000359382:S678P	S	+	1	0	PASD1	150593171	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.420000	0.07062	-0.228000	0.09869	-1.227000	0.01581	TCA		0.493	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	
ZNF141	7700	hgsc.bcm.edu	37	4	367267	367267	+	Silent	SNP	T	T	C	rs201021508	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr4:367267T>C	ENST00000240499.7	+	4	1190	c.1041T>C	c.(1039-1041)gcT>gcC	p.A347A	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	347					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						GTGGCAAAGCTTTTAGACAGT	0.423													t|||	135	0.0269569	0.0219	0.0259	5008	,	,		21511	0.0169		0.0169	False		,,,				2504	0.0552																0			4											41.0	44.0	43.0					4																	367267		2202	4299	6501	357267	SO:0001819	synonymous_variant	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1041T>C	4.37:g.367267T>C			357267	Q6DK07	Silent	SNP	ENST00000240499.7	37	CCDS33931.1																																																																																				0.423	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441	
JAKMIP1	152789	hgsc.bcm.edu	37	4	6086640	6086640	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr4:6086640T>C	ENST00000282924.5	-	5	1372	c.887A>G	c.(886-888)gAa>gGa	p.E296G	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E296G|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E296G|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E131G|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E131G|JAKMIP1_ENST00000457227.2_5'UTR	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	296	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAATTCAGTTCAGCAATTTT	0.393																																																	0			4											236.0	228.0	231.0					4																	6086640		2203	4300	6503	6137541	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.887A>G	4.37:g.6086640T>C	ENSP00000282924:p.Glu296Gly		6137541	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.526568	0.85706	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.47528	1.32;0.9;1.31;1.31;0.84	4.79	4.79	0.61399	.	0.216872	0.32640	N	0.005823	T	0.67552	0.2905	M	0.78049	2.395	0.49483	D	0.999793	D;P;D;D;P	0.76494	0.999;0.573;0.999;0.999;0.728	D;B;D;D;B	0.78314	0.986;0.23;0.991;0.991;0.23	T	0.72181	-0.4368	10	0.87932	D	0	.	12.1034	0.53798	0.0:0.0:0.0:1.0	.	131;296;131;296;296	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	G	296;131;296;296;188;296;296;131	ENSP00000386711:E296G;ENSP00000387042:E131G;ENSP00000282924:E296G;ENSP00000386925:E296G;ENSP00000386745:E131G	ENSP00000282924:E296G	E	-	2	0	JAKMIP1	6137541	1.000000	0.71417	0.982000	0.44146	0.979000	0.70002	7.605000	0.82844	1.789000	0.52484	0.482000	0.46254	GAA		0.393	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720	
MAN2B2	23324	hgsc.bcm.edu	37	4	6598966	6598966	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr4:6598966G>A	ENST00000285599.3	+	8	1220	c.1184G>A	c.(1183-1185)cGt>cAt	p.R395H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R344H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	395					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCGGCCCCCCGTGGGCATCTG	0.652																																																	0			4											48.0	57.0	54.0					4																	6598966		2203	4299	6502	6649867	SO:0001583	missense	23324			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1184G>A	4.37:g.6598966G>A	ENSP00000285599:p.Arg395His		6649867	Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.055|0.055	-1.239696|-1.239696	0.01493|0.01493	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	T;D|.	0.84800|.	-1.45;-1.9|.	5.27|5.27	-10.5|-10.5	0.00291|0.00291	Glycoside hydrolase, family 38, central domain (2);|.	2.300860|.	0.01436|.	N|.	0.014904|.	T|T	0.10852|0.10852	0.0265|0.0265	N|N	0.04148|0.04148	-0.265|-0.265	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.06405|.	0.002;0.002;0.001|.	T|T	0.10941|0.10941	-1.0608|-1.0608	10|5	0.40728|.	T|.	0.16|.	-2.5013|-2.5013	4.2207|4.2207	0.10556|0.10556	0.1084:0.3125:0.3679:0.2113|0.1084:0.3125:0.3679:0.2113	.|.	344;395;395|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	H|M	395;344|394	ENSP00000285599:R395H;ENSP00000423129:R344H|.	ENSP00000285599:R395H|.	R|V	+|+	2|1	0|0	MAN2B2|MAN2B2	6649867|6649867	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.049000|0.049000	0.14656|0.14656	-3.125000|-3.125000	0.00593|0.00593	-3.620000|-3.620000	0.00131|0.00131	-2.243000|-2.243000	0.00286|0.00286	CGT|GTG		0.652	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274	
BOD1L1	259282	hgsc.bcm.edu	37	4	13605821	13605821	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr4:13605821C>G	ENST00000040738.5	-	10	2838	c.2703G>C	c.(2701-2703)aaG>aaC	p.K901N		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	901	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										CTAACAAGCTCTTTGTTCGTC	0.368																																																	0			4											123.0	122.0	122.0					4																	13605821		2203	4300	6503	13214919	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2703G>C	4.37:g.13605821C>G	ENSP00000040738:p.Lys901Asn		13214919	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963501	0.53507	.	.	ENSG00000038219	ENST00000040738	T	0.15603	2.41	5.53	5.53	0.82687	.	0.000000	0.52532	D	0.000069	T	0.38931	0.1059	M	0.63843	1.955	0.34089	D	0.660534	D	0.89917	1.0	D	0.79784	0.993	T	0.50849	-0.8779	10	0.59425	D	0.04	-7.4526	14.3136	0.66432	0.1485:0.8515:0.0:0.0	.	901	Q8NFC6	BOD1L_HUMAN	N	901	ENSP00000040738:K901N	ENSP00000040738:K901N	K	-	3	2	BOD1L	13214919	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	2.023000	0.41040	2.603000	0.88011	0.650000	0.86243	AAG		0.368	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
SEPSECS	51091	hgsc.bcm.edu	37	4	25160601	25160601	+	Silent	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr4:25160601G>A	ENST00000382103.2	-	2	315	c.243C>T	c.(241-243)tcC>tcT	p.S81S	PI4K2B_ENST00000512921.1_5'Flank|SEPSECS_ENST00000302922.3_Intron	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	81					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				CAACCAGTGCGGATGCCACTC	0.383																																																	0			4											170.0	169.0	170.0					4																	25160601		1924	4135	6059	24769699	SO:0001819	synonymous_variant	51091			AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.243C>T	4.37:g.25160601G>A			24769699	A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Silent	SNP	ENST00000382103.2	37	CCDS3432.2																																																																																				0.383	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955	
TLR6	10333	hgsc.bcm.edu	37	4	38830422	38830422	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr4:38830422G>T	ENST00000381950.1	-	1	738	c.673C>A	c.(673-675)Ctg>Atg	p.L225M	TLR6_ENST00000436693.2_Missense_Mutation_p.L225M			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	225					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATATTAGTCAGTTGTAAGCAC	0.333																																																	0			4											48.0	53.0	51.0					4																	38830422		2202	4300	6502	38506817	SO:0001583	missense	10333				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.673C>A	4.37:g.38830422G>T	ENSP00000371376:p.Leu225Met		38506817	B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	G	5.584	0.292625	0.10567	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.10382	2.88;2.88	5.6	1.45	0.22620	.	0.338259	0.23400	N	0.048593	T	0.06508	0.0167	L	0.28740	0.885	0.24435	N	0.994557	B	0.22146	0.065	B	0.25405	0.06	T	0.31194	-0.9952	10	0.27082	T	0.32	.	3.7178	0.08445	0.0912:0.1273:0.267:0.5145	.	225	Q9Y2C9	TLR6_HUMAN	M	225	ENSP00000389600:L225M;ENSP00000371376:L225M	ENSP00000371376:L225M	L	-	1	2	TLR6	38506817	0.988000	0.35896	1.000000	0.80357	0.907000	0.53573	0.259000	0.18405	0.689000	0.31550	0.491000	0.48974	CTG		0.333	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1		
GABRG1	2565	hgsc.bcm.edu	37	4	46060510	46060510	+	Missense_Mutation	SNP	G	G	A	rs369652618		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr4:46060510G>A	ENST00000295452.4	-	6	922	c.755C>T	c.(754-756)aCg>aTg	p.T252M		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	252					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T252M(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACCAGAGATCGTGTGAGTGAT	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)	4						G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	89.0	86.0	87.0		755	5.8	1.0	4		87	0,8600		0,0,4300	no	missense	GABRG1	NM_173536.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	252/466	46060510	1,13005	2203	4300	6503	45755267	SO:0001583	missense	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.755C>T	4.37:g.46060510G>A	ENSP00000295452:p.Thr252Met		45755267	Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602615	0.87157	2.27E-4	0.0	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.78003	-1.14	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89543	0.6745	M	0.85710	2.77	0.47862	D	0.999532	D	0.89917	1.0	D	0.74023	0.982	D	0.89753	0.3941	10	0.56958	D	0.05	.	19.1642	0.93548	0.0:0.0:1.0:0.0	.	252	Q8N1C3	GBRG1_HUMAN	M	252	ENSP00000295452:T252M	ENSP00000295452:T252M	T	-	2	0	GABRG1	45755267	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.974000	0.88039	2.775000	0.95449	0.650000	0.86243	ACG		0.328	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
PDGFRA	5156	hgsc.bcm.edu	37	4	55152032	55152032	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr4:55152032C>A	ENST00000257290.5	+	18	2795	c.2464C>A	c.(2464-2466)Cgc>Agc	p.R822S	FIP1L1_ENST00000507166.1_Missense_Mutation_p.R582S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R822S(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TCTGGCTGCTCGCAACGTCCT	0.498			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	1	Substitution - Missense(1)	soft_tissue(1)	4											174.0	158.0	163.0					4																	55152032		2203	4300	6503	54846789	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2464C>A	4.37:g.55152032C>A	ENSP00000257290:p.Arg822Ser		54846789	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591674	0.86953	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.87491	-2.26;-2.26	6.17	6.17	0.99709	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32386	U	0.006179	D	0.91700	0.7376	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91699	0.5372	10	0.87932	D	0	.	16.376	0.83392	0.1323:0.8677:0.0:0.0	.	822	P16234	PGFRA_HUMAN	S	582;822	ENSP00000423325:R582S;ENSP00000257290:R822S	ENSP00000423325:R582S	R	+	1	0	FIP1L1;PDGFRA	54846789	0.998000	0.40836	0.998000	0.56505	0.891000	0.51852	1.878000	0.39608	2.941000	0.99782	0.655000	0.94253	CGC		0.498	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
SEC24B	10427	hgsc.bcm.edu	37	4	110415905	110415905	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr4:110415905T>C	ENST00000265175.5	+	6	1436	c.1381T>C	c.(1381-1383)Tat>Cat	p.Y461H	SEC24B_ENST00000399100.2_Missense_Mutation_p.Y426H|SEC24B_ENST00000504968.2_Missense_Mutation_p.Y492H	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	461					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GCCTTTTGGCTATGGCTATCC	0.512																																																	0			4											110.0	114.0	112.0					4																	110415905		2122	4280	6402	110635354	SO:0001583	missense	10427			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1381T>C	4.37:g.110415905T>C	ENSP00000265175:p.Tyr461His		110635354	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.460017	0.43736	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.23754	1.89;1.89;1.89	5.47	4.3	0.51218	.	.	.	.	.	T	0.22003	0.0530	L	0.49126	1.545	0.46654	D	0.999142	B;B;B;B;B	0.12630	0.003;0.001;0.006;0.001;0.001	B;B;B;B;B	0.17433	0.005;0.007;0.008;0.018;0.008	T	0.04593	-1.0940	9	0.19147	T	0.46	4.5137	9.5013	0.39019	0.0:0.0807:0.0:0.9193	.	376;60;492;426;461	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	H	492;426;461	ENSP00000428564:Y492H;ENSP00000382051:Y426H;ENSP00000265175:Y461H	ENSP00000265175:Y461H	Y	+	1	0	SEC24B	110635354	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.249000	0.43169	0.914000	0.36822	0.533000	0.62120	TAT		0.512	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
FBXW7	55294	hgsc.bcm.edu	37	4	153258971	153258971	+	Missense_Mutation	SNP	A	A	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr4:153258971A>T	ENST00000281708.4	-	5	2073	c.844T>A	c.(844-846)Tca>Aca	p.S282T	FBXW7_ENST00000296555.5_Missense_Mutation_p.S164T|FBXW7_ENST00000263981.5_Missense_Mutation_p.S202T|FBXW7_ENST00000603548.1_Missense_Mutation_p.S282T|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000393956.3_Missense_Mutation_p.S106T|FBXW7_ENST00000603841.1_Missense_Mutation_p.S282T	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	282	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GGGAGCAATGAAATGAAGTCT	0.343			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											174.0	169.0	170.0					4																	153258971		2203	4300	6503	153478421	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.844T>A	4.37:g.153258971A>T	ENSP00000281708:p.Ser282Thr		153478421	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.162661	0.78226	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.63	5.63	0.86233	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.105513	0.64402	D	0.000002	T	0.59959	0.2232	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.995;0.998;0.993;0.993	D;D;D;D	0.70227	0.953;0.968;0.922;0.922	T	0.55823	-0.8080	10	0.24483	T	0.36	-7.1899	15.8279	0.78727	1.0:0.0:0.0:0.0	.	106;282;164;202	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	T	282;164;202;106	ENSP00000281708:S282T;ENSP00000296555:S164T;ENSP00000263981:S202T;ENSP00000377528:S106T	ENSP00000263981:S202T	S	-	1	0	FBXW7	153478421	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.268000	0.95675	2.133000	0.65898	0.528000	0.53228	TCA		0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
MAP9	79884	hgsc.bcm.edu	37	4	156269037	156269037	+	Missense_Mutation	SNP	T	T	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr4:156269037T>G	ENST00000311277.4	-	14	2105	c.1842A>C	c.(1840-1842)gaA>gaC	p.E614D	MAP9_ENST00000515654.1_Missense_Mutation_p.E590D|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000512269.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000595760.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000597955.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000593486.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608762.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	614					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GTTCAATTCTTTCTTGTTTTT	0.343																																																	0			4											83.0	80.0	81.0					4																	156269037		2202	4300	6502	156488487	SO:0001583	missense	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1842A>C	4.37:g.156269037T>G	ENSP00000310593:p.Glu614Asp		156488487	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735313	0.69189	.	.	ENSG00000164114	ENST00000311277;ENST00000515654	T;T	0.19938	2.11;2.13	5.72	0.531	0.17108	.	0.178457	0.49305	D	0.000160	T	0.32436	0.0829	M	0.64997	1.995	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.59056	0.851;0.851	T	0.02751	-1.1115	10	0.54805	T	0.06	-27.1077	8.3821	0.32477	0.0:0.3046:0.0:0.6954	.	589;614	B4DVG9;Q49MG5	.;MAP9_HUMAN	D	614;590	ENSP00000310593:E614D;ENSP00000427402:E590D	ENSP00000310593:E614D	E	-	3	2	MAP9	156488487	1.000000	0.71417	0.997000	0.53966	0.757000	0.42996	0.378000	0.20569	-0.044000	0.13491	-0.256000	0.11100	GAA		0.343	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580	
CLCN3	1182	hgsc.bcm.edu	37	4	170634427	170634427	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr4:170634427T>C	ENST00000513761.1	+	12	2906	c.2347T>C	c.(2347-2349)Tgc>Cgc	p.C783R	CLCN3_ENST00000347613.4_Missense_Mutation_p.C783R|CLCN3_ENST00000504131.2_Missense_Mutation_p.C766R|CLCN3_ENST00000360642.3_Missense_Mutation_p.C756R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	783	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ACTGAGGCAGTGCCTTGTAAC	0.443																																																	0			4											92.0	83.0	86.0					4																	170634427		2203	4300	6503	170871002	SO:0001583	missense	1182			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2347T>C	4.37:g.170634427T>C	ENSP00000424603:p.Cys783Arg		170871002	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.295495	0.81025	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	5.2	5.2	0.72013	Cystathionine beta-synthase, core (3);	0.042013	0.85682	D	0.000000	D	0.94932	0.8361	L	0.43152	1.355	0.80722	D	1	D;D;D;P	0.76494	0.998;0.999;0.998;0.799	D;D;D;P	0.73708	0.975;0.981;0.975;0.625	D	0.95597	0.8659	10	0.87932	D	0	-2.5636	15.209	0.73202	0.0:0.0:0.0:1.0	.	756;766;783;783	B7Z932;B9EGJ9;P51790;P51790-2	.;.;CLCN3_HUMAN;.	R	783;783;756;766	ENSP00000424603:C783R;ENSP00000261514:C783R;ENSP00000353857:C756R;ENSP00000424540:C766R	ENSP00000261514:C783R	C	+	1	0	CLCN3	170871002	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.037000	0.88933	1.985000	0.57927	0.519000	0.50382	TGC		0.443	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2		
PPM1G	5496	hgsc.bcm.edu	37	2	27605446	27605446	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:27605446T>C	ENST00000344034.4	-	8	1492	c.1228A>G	c.(1228-1230)Aac>Gac	p.N410D	ZNF513_ENST00000323703.6_5'Flank|PPM1G_ENST00000350803.4_Missense_Mutation_p.N410D|ZNF513_ENST00000407879.1_5'Flank	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	410					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GGTGGCAGGTTCTTGTTTCTC	0.473																																																	0			2											307.0	294.0	298.0					2																	27605446		2203	4300	6503	27458950	SO:0001583	missense	5496			Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1228A>G	2.37:g.27605446T>C	ENSP00000342778:p.Asn410Asp		27458950		Missense_Mutation	SNP	ENST00000344034.4	37	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.140351	0.37825	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.09350	2.99;2.99	5.63	4.46	0.54185	Protein phosphatase 2C-like (5);	0.094910	0.64402	D	0.000001	T	0.05547	0.0146	N	0.13043	0.29	0.37711	D	0.924582	B;P	0.37176	0.018;0.586	B;B	0.33846	0.055;0.171	T	0.32268	-0.9913	10	0.07813	T	0.8	-11.7167	11.8211	0.52238	0.0:0.0:0.147:0.853	.	211;410	Q59GB2;O15355	.;PPM1G_HUMAN	D	410;410;393;211	ENSP00000342778:N410D;ENSP00000264714:N410D	ENSP00000342778:N410D	N	-	1	0	PPM1G	27458950	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.380000	0.44327	0.955000	0.37878	-0.313000	0.08912	AAC		0.473	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707	
GCKR	2646	hgsc.bcm.edu	37	2	27730108	27730108	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:27730108G>T	ENST00000264717.2	+	13	1136	c.1073G>T	c.(1072-1074)cGa>cTa	p.R358L	GCKR_ENST00000424318.2_Missense_Mutation_p.R168L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	358	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CCAGATTTCCGAGATGTCCGT	0.488																																																	0			2											242.0	252.0	249.0					2																	27730108		2203	4300	6503	27583612	SO:0001583	missense	11183			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1073G>T	2.37:g.27730108G>T	ENSP00000264717:p.Arg358Leu		27583612	A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	CCDS1757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.24|11.24	1.581850|1.581850	0.28180|0.28180	.|.	.|.	ENSG00000084734|ENSG00000084734	ENST00000411584|ENST00000264717;ENST00000424318	.|D;D	.|0.82893	.|-1.66;-1.66	4.8|4.8	-4.02|-4.02	0.04034|0.04034	.|Sugar isomerase (SIS) (1);	.|1.347880	.|0.04756	.|N	.|0.425533	.|T	.|0.69504	.|0.3118	N|N	0.13098|0.13098	0.295|0.295	0.28353|0.28353	N|N	0.920795|0.920795	.|B;B;B	.|0.14438	.|0.01;0.002;0.002	.|B;B;B	.|0.14023	.|0.01;0.004;0.004	.|T	.|0.56135	.|-0.8029	.|10	.|0.41790	.|T	.|0.15	3.6618|3.6618	10.9419|10.9419	0.47278|0.47278	0.6396:0.0:0.3604:0.0|0.6396:0.0:0.3604:0.0	.|.	.|168;356;358	.|F5H1P6;A8K731;Q14397	.|.;.;GCKR_HUMAN	X|L	59|358;168	.|ENSP00000264717:R358L;ENSP00000409109:R168L	.|ENSP00000264717:R358L	E|R	+|+	1|2	0|0	GCKR|GCKR	27583612|27583612	0.000000|0.000000	0.05858|0.05858	0.317000|0.317000	0.25265|0.25265	0.659000|0.659000	0.38960|0.38960	-1.682000|-1.682000	0.01935|0.01935	-0.701000|-0.701000	0.05063|0.05063	-0.137000|-0.137000	0.14449|0.14449	GAG|CGA		0.488	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486	
ALK	238	hgsc.bcm.edu	37	2	29443586	29443586	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:29443586T>C	ENST00000389048.3	-	23	4537	c.3631A>G	c.(3631-3633)Acc>Gcc	p.T1211A	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1211	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)		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)	CGAGGGCGGGTCTCTCGGAGG	0.607			"""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"""	0			2											46.0	45.0	46.0					2																	29443586		2203	4300	6503	29297090	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.3631A>G	2.37:g.29443586T>C	ENSP00000373700:p.Thr1211Ala		29297090	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	t	15.32	2.797373	0.50208	.	.	ENSG00000171094	ENST00000389048	D	0.82255	-1.59	5.59	5.59	0.84812	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	0.000150	T	0.73659	0.3615	N	0.21324	0.655	0.80722	D	1	B	0.12630	0.006	B	0.19946	0.027	T	0.67879	-0.5556	9	.	.	.	.	16.0904	0.81088	0.0:0.0:0.0:1.0	.	1211	Q9UM73	ALK_HUMAN	A	1211	ENSP00000373700:T1211A	.	T	-	1	0	ALK	29297090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.238000	0.72350	2.256000	0.74724	0.524000	0.50904	ACC		0.607	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
LCLAT1	253558	hgsc.bcm.edu	37	2	30682500	30682500	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:30682500A>G	ENST00000309052.4	+	2	231	c.22A>G	c.(22-24)Att>Gtt	p.I8V	LCLAT1_ENST00000540623.1_5'UTR|LCLAT1_ENST00000319406.4_Missense_Mutation_p.I8V|LCLAT1_ENST00000359433.1_Missense_Mutation_p.I8V|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000379509.3_Intron	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	8					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GGGAAGGGAAATTGTGGTGCT	0.443																																																	0			2											284.0	274.0	277.0					2																	30682500		2203	4300	6503	30536004	SO:0001583	missense	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.22A>G	2.37:g.30682500A>G	ENSP00000310551:p.Ile8Val		30536004	A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	A	2.998	-0.206618	0.06180	.	.	ENSG00000172954	ENST00000319406;ENST00000309052;ENST00000359433;ENST00000497423	T;T;T	0.49720	0.77;1.5;0.77	3.28	-1.88	0.07713	.	24.407300	0.00664	N	0.000601	T	0.29256	0.0728	N	0.08118	0	0.09310	N	0.999998	B;B	0.14012	0.009;0.0	B;B	0.08055	0.003;0.0	T	0.35051	-0.9804	10	0.87932	D	0	0.1381	7.4991	0.27507	0.4713:0.0:0.5287:0.0	.	8;8	Q6UWP7-2;Q6UWP7	.;LCLT1_HUMAN	V	8	ENSP00000368826:I8V;ENSP00000310551:I8V;ENSP00000352406:I8V	ENSP00000310551:I8V	I	+	1	0	LCLAT1	30536004	0.134000	0.22483	0.000000	0.03702	0.005000	0.04900	0.183000	0.16919	-0.388000	0.07797	0.533000	0.62120	ATT		0.443	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551	
GMCL1	64395	hgsc.bcm.edu	37	2	70064744	70064744	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:70064744A>G	ENST00000282570.3	+	2	577	c.326A>G	c.(325-327)gAc>gGc	p.D109G	GMCL1_ENST00000468386.2_3'UTR	NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	109	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)		p.D109G(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GAAAACAGTGACATTAAGATT	0.259																																																	1	Substitution - Missense(1)	ovary(1)	2											42.0	44.0	44.0					2																	70064744		2192	4291	6483	69918248	SO:0001583	missense	64395			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.326A>G	2.37:g.70064744A>G	ENSP00000282570:p.Asp109Gly		69918248	Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281341	0.80692	.	.	ENSG00000087338	ENST00000282570	D	0.91351	-2.83	4.92	4.92	0.64577	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97655	1.0157	10	0.87932	D	0	-32.076	12.832	0.57750	1.0:0.0:0.0:0.0	.	109	Q96IK5	GMCL1_HUMAN	G	109	ENSP00000282570:D109G	ENSP00000282570:D109G	D	+	2	0	GMCL1	69918248	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.131000	0.89601	2.181000	0.69327	0.455000	0.32223	GAC		0.259	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439	
PCBP1	5093	hgsc.bcm.edu	37	2	70315174	70315174	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:70315174T>A	ENST00000303577.5	+	1	590	c.299T>A	c.(298-300)cTg>cAg	p.L100Q	PCBP1-AS1_ENST00000458698.2_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	100	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.L100P(1)|p.L100Q(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CCGGTCACCCTGAGGCTGGTG	0.602																																					Colon(85;1146 1307 3484 18706 25380)												2	Substitution - Missense(2)	large_intestine(2)	2											59.0	73.0	68.0					2																	70315174		2201	4300	6501	70168678	SO:0001583	missense	5093				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.299T>A	2.37:g.70315174T>A	ENSP00000305556:p.Leu100Gln		70168678	Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.551119	0.65311	.	.	ENSG00000169564	ENST00000303577	T	0.30714	1.52	4.16	4.16	0.48862	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.168590	0.40469	U	0.001094	T	0.60573	0.2279	M	0.91459	3.21	0.54753	D	0.999986	D	0.71674	0.998	D	0.70487	0.969	T	0.69781	-0.5052	10	0.87932	D	0	.	11.8577	0.52449	0.0:0.0:0.0:1.0	.	100	Q15365	PCBP1_HUMAN	Q	100	ENSP00000305556:L100Q	ENSP00000305556:L100Q	L	+	2	0	PCBP1	70168678	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.884000	0.69729	2.120000	0.65058	0.477000	0.44152	CTG		0.602	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196	
INO80B	83444	hgsc.bcm.edu	37	2	74684548	74684548	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:74684548G>T	ENST00000233331.7	+	5	722	c.628G>T	c.(628-630)Gag>Tag	p.E210*	INO80B_ENST00000409917.1_Splice_Site|WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000393972.3_5'Flank|INO80B_ENST00000469849.1_3'UTR|WBP1_ENST00000409737.1_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	210					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CGCCCTCACAGAGGAGATGCT	0.672																																																	0			2											9.0	10.0	10.0					2																	74684548		2184	4280	6464	74538056	SO:0001587	stop_gained	83444			AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.628G>T	2.37:g.74684548G>T	ENSP00000233331:p.Glu210*		74538056		Nonsense_Mutation	SNP	ENST00000233331.7	37	CCDS1942.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.74|12.74	2.029564|2.029564	0.35797|0.35797	.|.	.|.	ENSG00000115274|ENSG00000115274	ENST00000409917|ENST00000233331	.|.	.|.	.|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	.|0.115830	.|0.56097	.|D	.|0.000026	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.59425	.|D	.|0.04	.|-26.1777	15.0094|15.0094	0.71539|0.71539	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|210	.|.	.|ENSP00000233331:E210X	.|E	+|+	.|1	.|0	INO80B|INO80B	74538056|74538056	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.078000|0.078000	0.17371|0.17371	7.176000|7.176000	0.77643|0.77643	2.418000|2.418000	0.82041|0.82041	0.462000|0.462000	0.41574|0.41574	.|GAG		0.672	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288	
CNGA3	1261	hgsc.bcm.edu	37	2	99013312	99013312	+	Missense_Mutation	SNP	C	C	T	rs370911601		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:99013312C>T	ENST00000272602.2	+	7	1718	c.1679C>T	c.(1678-1680)tCg>tTg	p.S560L	CNGA3_ENST00000436404.2_Missense_Mutation_p.S542L|CNGA3_ENST00000409937.1_Missense_Mutation_p.S564L|CNGA3_ENST00000393504.1_Missense_Mutation_p.S560L			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	560					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGAGCAAGTCGGGGAACCGC	0.592																																																	0			2						C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	135.0	131.0	132.0		1625,1679	5.4	0.9	2		132	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	CNGA3	NM_001079878.1,NM_001298.2	145,145	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	possibly-damaging,possibly-damaging	542/677,560/695	99013312	4,13002	2203	4300	6503	98379744	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1679C>T	2.37:g.99013312C>T	ENSP00000272602:p.Ser560Leu		98379744	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706853	0.48412	2.27E-4	3.49E-4	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97831	-4.46;-4.37;-4.46;-4.56	5.42	5.42	0.78866	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.172665	0.52532	D	0.000075	D	0.95326	0.8483	L	0.41236	1.265	0.46185	D	0.998915	B;B;B	0.32717	0.069;0.112;0.381	B;B;B	0.25884	0.019;0.041;0.064	D	0.94452	0.7668	10	0.72032	D	0.01	.	18.154	0.89686	0.0:1.0:0.0:0.0	.	564;542;560	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	L	560;542;560;564	ENSP00000377140:S560L;ENSP00000410070:S542L;ENSP00000272602:S560L;ENSP00000386761:S564L	ENSP00000272602:S560L	S	+	2	0	CNGA3	98379744	0.000000	0.05858	0.858000	0.33744	0.890000	0.51754	0.666000	0.25097	2.826000	0.97356	0.563000	0.77884	TCG		0.592	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298	
AFF3	3899	hgsc.bcm.edu	37	2	100210211	100210211	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:100210211G>A	ENST00000409236.2	-	13	2024	c.1912C>T	c.(1912-1914)Cgc>Tgc	p.R638C	AFF3_ENST00000409579.1_Missense_Mutation_p.R663C|AFF3_ENST00000356421.2_Missense_Mutation_p.R663C|AFF3_ENST00000317233.4_Missense_Mutation_p.R638C			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	638					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGCTCCTTGCGGTGGCTCGCT	0.682																																																	0			2											41.0	46.0	44.0					2																	100210211		2203	4300	6503	99576643	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1912C>T	2.37:g.100210211G>A	ENSP00000387207:p.Arg638Cys		99576643	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918514	0.52546	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.58	2.57	0.30868	.	0.266767	0.25481	N	0.030361	T	0.77391	0.4123	M	0.74647	2.275	0.49389	D	0.999783	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.971;0.911	T	0.77327	-0.2629	10	0.66056	D	0.02	.	8.2833	0.31913	0.0:0.1507:0.5394:0.3099	.	791;638;663	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	C	638;663;663;638;638;791;663	ENSP00000317421:R638C;ENSP00000348793:R663C;ENSP00000386834:R663C;ENSP00000387207:R638C	ENSP00000317421:R638C	R	-	1	0	AFF3	99576643	0.975000	0.34042	1.000000	0.80357	0.698000	0.40448	0.399000	0.20916	1.041000	0.40125	0.462000	0.41574	CGC		0.682	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
RIF1	55183	hgsc.bcm.edu	37	2	152322493	152322493	+	Silent	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:152322493T>C	ENST00000243326.5	+	29	6942	c.6459T>C	c.(6457-6459)ccT>ccC	p.P2153P	RIF1_ENST00000430328.2_Silent_p.P2153P|RIF1_ENST00000428287.2_Silent_p.P2153P|RIF1_ENST00000453091.2_Silent_p.P2153P|RIF1_ENST00000444746.2_Silent_p.P2153P			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AACTTGATCCTTCACTTGTGT	0.448																																																	0			2											112.0	105.0	107.0					2																	152322493		2203	4300	6503	152030739	SO:0001819	synonymous_variant	55791			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6459T>C	2.37:g.152322493T>C			152030739	A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	CCDS2194.1																																																																																				0.448	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
KCNH7	90134	hgsc.bcm.edu	37	2	163279946	163279946	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:163279946T>A	ENST00000332142.5	-	9	2153	c.2054A>T	c.(2053-2055)gAg>gTg	p.E685V	KCNH7_ENST00000328032.4_Missense_Mutation_p.E678V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	685					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E685G(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCGAATGAACTCTTTTACTCG	0.443																																					GBM(196;1492 2208 17507 24132 45496)												1	Substitution - Missense(1)	ovary(1)	2											241.0	224.0	229.0					2																	163279946		2203	4300	6503	162988192	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2054A>T	2.37:g.163279946T>A	ENSP00000331727:p.Glu685Val		162988192	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.935053	0.92458	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96940	-4.18;-4.18	5.95	5.95	0.96441	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98419	0.9474	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.96	D	0.99490	1.0950	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	678;685	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	V	685;678	ENSP00000331727:E685V;ENSP00000333781:E678V	ENSP00000333781:E678V	E	-	2	0	KCNH7	162988192	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	GAG		0.443	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
PDE11A	50940	hgsc.bcm.edu	37	2	178562149	178562149	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:178562149G>C	ENST00000286063.6	-	15	2573	c.2256C>G	c.(2254-2256)atC>atG	p.I752M	AC012499.1_ENST00000412133.1_RNA|AC012499.1_ENST00000450227.1_RNA|PDE11A_ENST00000358450.4_Missense_Mutation_p.I502M|PDE11A_ENST00000389683.3_Missense_Mutation_p.I308M|PDE11A_ENST00000449286.2_Missense_Mutation_p.I394M|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.I394M	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	752	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GGTTAGCAAAGATATTGTGAC	0.368									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0			2											109.0	93.0	98.0					2																	178562149		2203	4300	6503	178270395	SO:0001583	missense	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2256C>G	2.37:g.178562149G>C	ENSP00000286063:p.Ile752Met		178270395	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.21|18.21	3.572706|3.572706	0.65765|0.65765	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286|ENST00000433879	D;D;D;D;D|.	0.81908|.	-1.55;-1.55;-1.55;-1.55;-1.55|.	5.57|5.57	4.67|4.67	0.58626|0.58626	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77638|0.77638	0.4160|0.4160	M|M	0.90425|0.90425	3.115|3.115	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.79988|0.79988	-0.1571|-0.1571	10|5	0.87932|.	D|.	0|.	.|.	8.7982|8.7982	0.34892|0.34892	0.0744:0.0:0.7629:0.1627|0.0744:0.0:0.7629:0.1627	.|.	502;752|.	Q9HCR9-2;Q9HCR9|.	.;PDE11_HUMAN|.	M|C	752;502;394;308;394|360	ENSP00000286063:I752M;ENSP00000351232:I502M;ENSP00000386539:I394M;ENSP00000374333:I308M;ENSP00000390599:I394M|.	ENSP00000286063:I752M|.	I|S	-|-	3|2	3|0	PDE11A|PDE11A	178270395|178270395	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.784000|3.784000	0.55416|0.55416	1.288000|1.288000	0.44600|0.44600	0.650000|0.650000	0.86243|0.86243	ATC|TCT		0.368	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
TTN	7273	hgsc.bcm.edu	37	2	179579734	179579734	+	Missense_Mutation	SNP	C	C	T	rs544958705		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:179579734C>T	ENST00000591111.1	-	88	25452	c.25228G>A	c.(25228-25230)Gtt>Att	p.V8410I	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V7483I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V8727I|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12582	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGAACCAACGCAAGTGTCG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		21242	0.0		0.0	False		,,,				2504	0.001																0			2											210.0	205.0	207.0					2																	179579734		2042	4198	6240	179287979	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25228G>A	2.37:g.179579734C>T	ENSP00000465570:p.Val8410Ile		179287979	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	6.529	0.465908	0.12402	.	.	ENSG00000155657	ENST00000342992	T	0.41065	1.01	5.91	0.841	0.18918	Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22205	0.0535	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24657	-1.0154	9	0.87932	D	0	.	1.2802	0.02039	0.1486:0.282:0.1453:0.424	.	8410	Q8WZ42	TITIN_HUMAN	I	7483	ENSP00000343764:V7483I	ENSP00000343764:V7483I	V	-	1	0	TTN	179287979	0.004000	0.15560	0.004000	0.12327	0.031000	0.12232	-0.148000	0.10219	0.091000	0.17302	0.655000	0.94253	GTT		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TUBA4A	7277	hgsc.bcm.edu	37	2	220116426	220116426	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:220116426C>A	ENST00000248437.4	-	3	409	c.236G>T	c.(235-237)cGa>cTa	p.R79L	TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000392088.2_Missense_Mutation_p.R64L|TUBA4B_ENST00000490341.1_RNA	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	79					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R79Q(2)|p.R64Q(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	TGGGCCATTTCGGATCTCATC	0.547																																																	4	Substitution - Missense(4)	ovary(2)|large_intestine(2)	2											81.0	74.0	76.0					2																	220116426		2203	4300	6503	219824670	SO:0001583	missense	7277			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.236G>T	2.37:g.220116426C>A	ENSP00000248437:p.Arg79Leu		219824670	A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001505	0.54254	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000427737;ENST00000456818;ENST00000447205;ENST00000425551	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000002	T	0.76026	0.3930	M	0.88310	2.945	0.80722	D	1	B	0.20368	0.044	B	0.28849	0.095	T	0.77127	-0.2702	10	0.87932	D	0	.	18.6248	0.91333	0.0:1.0:0.0:0.0	.	79	P68366	TBA4A_HUMAN	L	79;64;64;102;64;81	ENSP00000248437:R79L;ENSP00000375938:R64L;ENSP00000408194:R64L;ENSP00000416992:R102L;ENSP00000396061:R64L;ENSP00000404740:R81L	ENSP00000248437:R79L	R	-	2	0	TUBA4A	219824670	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.564000	0.82326	2.639000	0.89480	0.655000	0.94253	CGA		0.547	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000	
RTP5	285093	hgsc.bcm.edu	37	2	242814002	242814002	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:242814002G>A	ENST00000343216.3	+	2	323	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_173821.2	NP_776182.2																					GCTGTGCCCCGCACCCGGGGA	0.711																																																	0			2											7.0	10.0	9.0					2																	242814002		1877	4066	5943	242462675	SO:0001583	missense	285093																														ENST00000343216.3:c.295G>A	2.37:g.242814002G>A	ENSP00000345374:p.Ala99Thr		242462675		Missense_Mutation	SNP	ENST00000343216.3	37	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	0.016	-1.514723	0.00975	.	.	ENSG00000188011	ENST00000343216	T	0.21191	2.02	2.67	-5.35	0.02697	.	.	.	.	.	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	P	0.34522	0.455	B	0.24155	0.051	T	0.25847	-1.0120	9	0.18710	T	0.47	.	1.4037	0.02276	0.3992:0.2898:0.1808:0.1301	.	99	Q14D33	CB085_HUMAN	T	99	ENSP00000345374:A99T	ENSP00000345374:A99T	A	+	1	0	C2orf85	242462675	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.352000	0.01091	-2.233000	0.00716	-0.532000	0.04303	GCA		0.711	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1		
HAUS6	54801	hgsc.bcm.edu	37	9	19063007	19063007	+	Splice_Site	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr9:19063007T>C	ENST00000380502.3	-	14	2095	c.1628A>G	c.(1627-1629)gAg>gGg	p.E543G	HAUS6_ENST00000380496.1_Splice_Site_p.E407G|SCARNA8_ENST00000515924.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	543					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTTCTCACCTCTTCTACCAG	0.413																																																	0			9											163.0	148.0	153.0					9																	19063007		2203	4300	6503	19053007	SO:0001630	splice_region_variant	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1629+1A>G	9.37:g.19063007T>C			19053007	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914091	0.72983	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.54675	1.58;1.57;0.56	5.54	5.54	0.83059	.	0.101103	0.64402	D	0.000002	T	0.70640	0.3247	M	0.72479	2.2	0.39215	D	0.963381	D;D;D;D	0.89917	0.992;0.992;1.0;0.992	P;P;D;P	0.87578	0.813;0.801;0.998;0.813	T	0.76000	-0.3119	10	0.87932	D	0	-7.6635	13.061	0.59008	0.0:0.0:0.0:1.0	.	508;543;407;543	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	G	543;407;59	ENSP00000369871:E543G;ENSP00000369865:E407G;ENSP00000409615:E59G	ENSP00000369865:E407G	E	-	2	0	HAUS6	19053007	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	4.628000	0.61282	2.106000	0.64143	0.460000	0.39030	GAG		0.413	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	Missense_Mutation
FOCAD	54914	hgsc.bcm.edu	37	9	20885121	20885121	+	Silent	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr9:20885121T>C	ENST00000380249.1	+	23	2881	c.2517T>C	c.(2515-2517)ttT>ttC	p.F839F	FOCAD_ENST00000338382.6_Silent_p.F839F|FOCAD_ENST00000605086.1_Silent_p.F275F	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	839						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GTATGTTATTTTGCTATGATG	0.353																																																	0			9											100.0	91.0	94.0					9																	20885121		2203	4300	6503	20875121	SO:0001819	synonymous_variant	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2517T>C	9.37:g.20885121T>C			20875121	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	CCDS34993.1																																																																																				0.353	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	
IFNB1	3456	hgsc.bcm.edu	37	9	21077536	21077536	+	Silent	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr9:21077536A>G	ENST00000380232.2	-	1	407	c.333T>C	c.(331-333)aaT>aaC	p.N111N		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	111					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.N111K(1)		breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		GATGATAGACATTAGCCAGGA	0.418																																																	1	Substitution - Missense(1)	ovary(1)	9											174.0	173.0	174.0					9																	21077536		2203	4300	6503	21067536	SO:0001819	synonymous_variant	3456				CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.333T>C	9.37:g.21077536A>G			21067536	Q5VWC9	Silent	SNP	ENST00000380232.2	37	CCDS6495.1																																																																																				0.418	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176	
MOB3B	79817	hgsc.bcm.edu	37	9	27455164	27455164	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr9:27455164T>C	ENST00000262244.5	-	2	809	c.385A>G	c.(385-387)Atc>Gtc	p.I129V		NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	129							metal ion binding (GO:0046872)										TCGTTGTTGATCTGAACCTCA	0.428																																																	0			9											107.0	98.0	101.0					9																	27455164		2203	4300	6503	27445164	SO:0001583	missense	79817			AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.385A>G	9.37:g.27455164T>C	ENSP00000262244:p.Ile129Val		27445164	Q8NEB4|Q9H8V4	Missense_Mutation	SNP	ENST00000262244.5	37	CCDS6520.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816944	0.70912	.	.	ENSG00000120162	ENST00000262244	.	.	.	5.83	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.64182	0.2575	L	0.58354	1.805	0.53688	D	0.999977	D	0.55605	0.972	P	0.55303	0.773	T	0.61821	-0.6984	9	0.34782	T	0.22	-31.062	11.4228	0.49991	0.1352:0.0:0.0:0.8648	.	129	Q86TA1	MOB3B_HUMAN	V	129	.	ENSP00000262244:I129V	I	-	1	0	MOBKL2B	27445164	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	1.018000	0.39521	0.460000	0.39030	ATC		0.428	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761	
TAF1L	138474	hgsc.bcm.edu	37	9	32635359	32635359	+	Silent	SNP	C	C	T	rs267602212		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr9:32635359C>T	ENST00000242310.4	-	1	308	c.219G>A	c.(217-219)ctG>ctA	p.L73L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	73					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.L73L(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTAGGCTGCCCAGCCCCAAAG	0.537																																																	2	Substitution - coding silent(2)	skin(2)	9											129.0	125.0	127.0					9																	32635359		2203	4300	6503	32625359	SO:0001819	synonymous_variant	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.219G>A	9.37:g.32635359C>T			32625359	Q0VG57	Silent	SNP	ENST00000242310.4	37	CCDS35003.1																																																																																				0.537	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
CTSL	1514	hgsc.bcm.edu	37	9	90343679	90343679	+	Silent	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr9:90343679T>C	ENST00000343150.5	+	5	1466	c.576T>C	c.(574-576)gaT>gaC	p.D192D	CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000342020.5_Silent_p.D192D|CTSL_ENST00000340342.6_Silent_p.D192D			P07711	CATL1_HUMAN	cathepsin L	192					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										ATGTTCAGGATAATGGAGGCC	0.483																																																	0			9											103.0	93.0	96.0					9																	90343679		2203	4300	6503	89533499	SO:0001819	synonymous_variant	1514			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.576T>C	9.37:g.90343679T>C			89533499	Q6IAV1|Q96QJ0	Silent	SNP	ENST00000343150.5	37	CCDS6675.1																																																																																				0.483	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912	
PTCH1	5727	hgsc.bcm.edu	37	9	98229650	98229650	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr9:98229650G>A	ENST00000331920.6	-	15	2607	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*	PTCH1_ENST00000418258.1_Nonsense_Mutation_p.R619*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.R619*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.R619*|PTCH1_ENST00000430669.2_Nonsense_Mutation_p.R704*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.R769*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.R704*	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	770					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.R770*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCTCTCACTCGGGTGGTGCCA	0.498																																																	1	Substitution - Nonsense(1)	skin(1)	9	GRCh37	CD054985	PTCH1	D							70.0	71.0	71.0					9																	98229650		2203	4300	6503	97269471	SO:0001587	stop_gained	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2308C>T	9.37:g.98229650G>A	ENSP00000332353:p.Arg770*		97269471	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Nonsense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	41	8.896394	0.98994	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	.	.	.	5.82	5.82	0.92795	.	0.061164	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3775	20.1013	0.97878	0.0:0.0:1.0:0.0	.	.	.	.	X	770;704;619;619;206;704;619;769	.	ENSP00000332353:R770X	R	-	1	2	PTCH1	97269471	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.485000	0.60279	2.748000	0.94277	0.655000	0.94253	CGA		0.498	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
OR13C5	138799	hgsc.bcm.edu	37	9	107361264	107361264	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr9:107361264A>G	ENST00000374779.2	-	1	524	c.431T>C	c.(430-432)aTg>aCg	p.M144T		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCCAGCTGCCATGGGTACATA	0.473																																																	0			9											102.0	102.0	102.0					9																	107361264		2203	4298	6501	106401085	SO:0001583	missense	138799				CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.431T>C	9.37:g.107361264A>G	ENSP00000363911:p.Met144Thr		106401085	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.398574	0.42512	.	.	ENSG00000255800	ENST00000374779	T	0.38240	1.15	4.17	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	U	0.000405	T	0.60261	0.2255	M	0.88775	2.98	0.09310	N	1	D	0.71674	0.998	D	0.75020	0.985	T	0.53415	-0.8442	10	0.87932	D	0	.	7.5593	0.27843	0.8952:0.0:0.1048:0.0	.	144	Q8NGS8	O13C5_HUMAN	T	144	ENSP00000363911:M144T	ENSP00000363911:M144T	M	-	2	0	OR13C5	106401085	0.172000	0.23043	0.046000	0.18839	0.178000	0.23041	4.303000	0.59098	0.671000	0.31185	0.433000	0.28618	ATG		0.473	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482	
OR13C2	392376	hgsc.bcm.edu	37	9	107367287	107367287	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr9:107367287A>C	ENST00000542196.1	-	1	664	c.622T>G	c.(622-624)Ttg>Gtg	p.L208V		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AAAGGTGTCAATATGAACAAT	0.413																																																	0			9											138.0	132.0	134.0					9																	107367287		2201	4300	6501	106407108	SO:0001583	missense	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.622T>G	9.37:g.107367287A>C	ENSP00000438815:p.Leu208Val		106407108	B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.011825	0.00422	.	.	ENSG00000257019	ENST00000542196	T	0.39056	1.1	3.53	-4.49	0.03504	GPCR, rhodopsin-like superfamily (1);	0.352991	0.14602	U	0.309548	T	0.13543	0.0328	N	0.05554	-0.025	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.24119	-1.0169	10	0.10902	T	0.67	.	2.0211	0.03509	0.4772:0.1249:0.2751:0.1228	.	208	Q8NGS9	O13C2_HUMAN	V	208	ENSP00000438815:L208V	ENSP00000438815:L208V	L	-	1	2	OR13C2	106407108	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-6.778000	0.00054	-1.155000	0.02822	-1.777000	0.00654	TTG		0.413	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481	
TUBA3C	7278	hgsc.bcm.edu	37	13	19751234	19751234	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr13:19751234C>T	ENST00000400113.3	-	4	993	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	297					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TTGGCTGGCTCGAAGCAGGCA	0.607																																																	0			13											160.0	138.0	146.0					13																	19751234		2203	4300	6503	18649234	SO:0001583	missense	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.889G>A	13.37:g.19751234C>T	ENSP00000382982:p.Glu297Lys		18649234	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	14.89	2.670081	0.47677	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84730	-1.89	1.19	1.19	0.21007	.	0.000000	0.47455	U	0.000229	D	0.86539	0.5957	.	.	.	0.43238	D	0.995142	.	.	.	.	.	.	D	0.85825	0.1388	7	0.87932	D	0	.	8.3297	0.32178	0.0:1.0:0.0:0.0	.	.	.	.	K	297	ENSP00000382982:E297K	ENSP00000354037:E297K	E	-	1	0	TUBA3C	18649234	0.999000	0.42202	0.999000	0.59377	0.694000	0.40290	4.652000	0.61454	0.972000	0.38314	0.175000	0.17021	GAG		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
SOHLH2	54937	hgsc.bcm.edu	37	13	36744745	36744745	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr13:36744745G>A	ENST00000379881.3	-	10	1268	c.1180C>T	c.(1180-1182)Ccc>Tcc	p.P394S	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.P471S|SOHLH2_ENST00000554962.1_Missense_Mutation_p.P471S	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	394					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GAGACCGGGGGCATGGCTGAA	0.483																																																	0			13											111.0	98.0	102.0					13																	36744745		2203	4300	6503	35642745	SO:0001583	missense	54937			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1180C>T	13.37:g.36744745G>A	ENSP00000369210:p.Pro394Ser		35642745	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	G	4.629	0.116976	0.08881	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	T;T;T	0.58210	0.36;0.35;0.35	5.14	2.44	0.29823	.	0.242039	0.29410	N	0.012224	T	0.47229	0.1434	M	0.61703	1.905	0.20873	N	0.999835	B;B	0.11235	0.004;0.004	B;B	0.16722	0.016;0.016	T	0.39623	-0.9605	10	0.38643	T	0.18	0.0287	9.7139	0.40263	0.0862:0.1423:0.7715:0.0	.	471;394	B4DX90;Q9NX45	.;SOLH2_HUMAN	S	394;471;471	ENSP00000369210:P394S;ENSP00000451542:P471S;ENSP00000421868:P471S	ENSP00000421868:P471S	P	-	1	0	CCDC169-SOHLH2;SOHLH2	35642745	0.073000	0.21202	0.060000	0.19600	0.141000	0.21300	0.097000	0.15168	0.185000	0.20105	-0.907000	0.02831	CCC		0.483	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826	
SPG20	23111	hgsc.bcm.edu	37	13	36909193	36909193	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr13:36909193C>T	ENST00000451493.1	-	2	992	c.775G>A	c.(775-777)Gat>Aat	p.D259N	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.D259N|SPG20_ENST00000355182.4_Missense_Mutation_p.D259N|SPG20_ENST00000494062.2_Missense_Mutation_p.D259N	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	259					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)	p.D259N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AGAACCGTATCGAGAGAATTA	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)	13											92.0	98.0	96.0					13																	36909193		2203	4300	6503	35807193	SO:0001583	missense	23111			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.775G>A	13.37:g.36909193C>T	ENSP00000414147:p.Asp259Asn		35807193	O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485019	0.84854	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89875	-2.58;-2.58;-2.58	5.82	5.82	0.92795	.	0.148772	0.64402	D	0.000013	D	0.90349	0.6980	L	0.54323	1.7	0.46222	D	0.99893	D;D;D	0.69078	0.997;0.984;0.997	P;B;P	0.51701	0.677;0.413;0.677	D	0.87214	0.2249	10	0.21014	T	0.42	-36.2299	20.1064	0.97896	0.0:1.0:0.0:0.0	.	259;259;259	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	N	259	ENSP00000406061:D259N;ENSP00000347314:D259N;ENSP00000414147:D259N	ENSP00000347314:D259N	D	-	1	0	SPG20	35807193	1.000000	0.71417	0.994000	0.49952	0.864000	0.49448	5.356000	0.66052	2.745000	0.94114	0.650000	0.86243	GAT		0.383	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2		
SUPT20H	55578	hgsc.bcm.edu	37	13	37599457	37599457	+	Splice_Site	SNP	A	A	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr13:37599457A>T	ENST00000350612.6	-	17	1549	c.1329T>A	c.(1327-1329)gaT>gaA	p.D443E	SUPT20H_ENST00000464744.1_Splice_Site_p.D444E|SUPT20H_ENST00000356185.3_Splice_Site_p.D444E|SUPT20H_ENST00000360252.4_Splice_Site_p.D444E|SUPT20H_ENST00000542180.1_Splice_Site_p.D407E|SUPT20H_ENST00000475892.1_Splice_Site_p.D443E	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	443					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										TGAAACACACATCTGTTTCTT	0.433																																																	0			13											110.0	104.0	106.0					13																	37599457		2203	4300	6503	36497457	SO:0001630	splice_region_variant	55578			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1329+1T>A	13.37:g.37599457A>T			36497457	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	CCDS31959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	3.790|3.790	-0.043852|-0.043852	0.07452|0.07452	.|.	.|.	ENSG00000102710|ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180|ENST00000469488	T;T;T;T;T;T|.	0.37752|.	1.2;1.18;1.8;1.2;1.2;1.31|.	5.33|5.33	4.15|4.15	0.48705|0.48705	.|.	0.169634|.	0.53938|.	N|.	0.000052|.	T|T	0.04137|0.04137	0.0115|0.0115	N|N	0.00053|0.00053	-2.39|-2.39	0.20196|0.20196	N|N	0.999925|0.999925	B;B;B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0;0.0;0.0;0.0|.	T|T	0.32375|0.32375	-0.9909|-0.9909	10|5	0.02654|.	T|.	1|.	-14.0226|-14.0226	6.5754|6.5754	0.22562|0.22562	0.1385:0.0722:0.0:0.7893|0.1385:0.0722:0.0:0.7893	.|.	407;443;443;444;444;443;443|.	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7;F5GX46|.	.;.;.;.;.;FA48A_HUMAN;.|.	E|N	444;443;443;444;443;444;407|51	ENSP00000353388:D444E;ENSP00000417510:D443E;ENSP00000218894:D443E;ENSP00000348512:D444E;ENSP00000419754:D444E;ENSP00000439000:D407E|.	ENSP00000218894:D443E|.	D|I	-|-	3|2	2|0	FAM48A|FAM48A	36497457|36497457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.773000|0.773000	0.43773|0.43773	2.535000|2.535000	0.45685|0.45685	0.972000|0.972000	0.38314|0.38314	-0.343000|-0.343000	0.07986|0.07986	GAT|ATC		0.433	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569	Missense_Mutation
FREM2	341640	hgsc.bcm.edu	37	13	39438545	39438545	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr13:39438545C>A	ENST00000280481.7	+	16	8001	c.7785C>A	c.(7783-7785)ttC>ttA	p.F2595L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2595					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTATGGTTTCTTGACTGATG	0.458																																																	0			13											145.0	134.0	138.0					13																	39438545		2203	4300	6503	38336545	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7785C>A	13.37:g.39438545C>A	ENSP00000280481:p.Phe2595Leu		38336545	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361014	0.82353	.	.	ENSG00000150893	ENST00000280481	T	0.28454	1.61	5.81	4.91	0.64330	.	0.053822	0.85682	D	0.000000	T	0.58906	0.2155	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.997	T	0.64795	-0.6323	10	0.87932	D	0	.	9.4515	0.38729	0.0:0.7655:0.0:0.2345	.	2595;2595	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	L	2595	ENSP00000280481:F2595L	ENSP00000280481:F2595L	F	+	3	2	FREM2	38336545	0.999000	0.42202	0.953000	0.39169	0.965000	0.64279	2.703000	0.47110	1.333000	0.45449	0.650000	0.86243	TTC		0.458	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
KBTBD7	84078	hgsc.bcm.edu	37	13	41767120	41767120	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr13:41767120C>T	ENST00000379483.3	-	1	1582	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	425										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CATGCCCTCACGACACAGCAA	0.483																																																	0			13											121.0	110.0	114.0					13																	41767120		2203	4300	6503	40665120	SO:0001583	missense	84078			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1274G>A	13.37:g.41767120C>T	ENSP00000368797:p.Arg425His		40665120	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534351	0.45073	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.79554	-1.28	5.05	5.05	0.67936	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.83344	0.5234	M	0.88181	2.935	0.49687	D	0.999814	B	0.29886	0.26	B	0.24974	0.057	D	0.85003	0.0901	10	0.87932	D	0	.	15.9128	0.79485	0.0:1.0:0.0:0.0	.	425	Q8WVZ9	KBTB7_HUMAN	H	425;327	ENSP00000368797:R425H	ENSP00000368797:R425H	R	-	2	0	KBTBD7	40665120	1.000000	0.71417	0.750000	0.31169	0.922000	0.55478	5.132000	0.64758	2.328000	0.79073	0.557000	0.71058	CGT		0.483	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138	
PCDH17	27253	hgsc.bcm.edu	37	13	58299162	58299162	+	Silent	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr13:58299162T>C	ENST00000377918.3	+	4	3240	c.3214T>C	c.(3214-3216)Ttg>Ctg	p.L1072L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1072					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1072V(2)|p.L1072L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGTCAGTACTTGCCCACTGA	0.532																																					Melanoma(72;952 1291 1619 12849 33676)												3	Substitution - Missense(2)|Substitution - coding silent(1)	prostate(1)|large_intestine(1)|lung(1)	13											107.0	103.0	104.0					13																	58299162		2203	4300	6503	57197163	SO:0001819	synonymous_variant	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3214T>C	13.37:g.58299162T>C			57197163	A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	CCDS31986.1																																																																																				0.532	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
WDFY4	57705	hgsc.bcm.edu	37	10	49968426	49968426	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr10:49968426G>A	ENST00000325239.5	+	12	2521	c.2494G>A	c.(2494-2496)Ggg>Agg	p.G832R	WDFY4_ENST00000413659.2_Missense_Mutation_p.G832R	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	832						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CATGCATCCCGGGGTCGTGTG	0.507																																																	0			10											112.0	100.0	104.0					10																	49968426		692	1591	2283	49638432	SO:0001583	missense	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.2494G>A	10.37:g.49968426G>A	ENSP00000320563:p.Gly832Arg		49638432	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	ENST00000325239.5	37	CCDS44385.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915122	0.33815	.	.	ENSG00000128815	ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	T;T	0.04654	3.58;3.58	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.09158	0.0226	M	0.76838	2.35	0.29672	N	0.842365	P	0.49307	0.922	B	0.36418	0.224	T	0.11767	-1.0574	8	.	.	.	.	16.9376	0.86207	0.0:0.0:1.0:0.0	.	832	Q6ZS81	WDFY4_HUMAN	R	841;832;832;832	ENSP00000320563:G832R;ENSP00000403789:G832R	.	G	+	1	0	WDFY4	49638432	0.998000	0.40836	0.080000	0.20451	0.012000	0.07955	4.127000	0.57944	2.747000	0.94245	0.650000	0.86243	GGG		0.507	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
WDFY4	57705	hgsc.bcm.edu	37	10	50004492	50004492	+	Silent	SNP	C	C	T	rs61747060	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr10:50004492C>T	ENST00000325239.5	+	23	4434	c.4407C>T	c.(4405-4407)ttC>ttT	p.F1469F	WDFY4_ENST00000413659.2_Intron	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	1469						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						TCTGCAATTTCGAGGTAAATC	0.493													C|||	17	0.00339457	0.0121	0.0	5008	,	,		23269	0.0		0.0	False		,,,				2504	0.001																0			10						C		17,1367		0,17,675	88.0	73.0	77.0		4407	-5.2	0.9	10	dbSNP_129	77	0,3182		0,0,1591	no	coding-synonymous	WDFY4	NM_020945.1		0,17,2266	TT,TC,CC		0.0,1.2283,0.3723		1469/3185	50004492	17,4549	692	1591	2283	49674498	SO:0001819	synonymous_variant	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.4407C>T	10.37:g.50004492C>T			49674498	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Silent	SNP	ENST00000325239.5	37	CCDS44385.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	8.831	0.939989	0.18281	0.012283	0.0	ENSG00000128815	ENST00000312002	.	.	.	5.04	-5.24	0.02789	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0443	0.30540	0.0:0.1458:0.1085:0.7457	rs61747060	.	.	.	X	560	.	.	R	+	1	2	WDFY4	49674498	0.429000	0.25530	0.919000	0.36401	0.825000	0.46686	-0.519000	0.06260	-1.229000	0.02564	-0.263000	0.10527	CGA		0.493	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
MINPP1	9562	hgsc.bcm.edu	37	10	89311877	89311877	+	Missense_Mutation	SNP	G	G	C	rs369261111		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr10:89311877G>C	ENST00000371996.4	+	5	1147	c.1106G>C	c.(1105-1107)gGt>gCt	p.G369A	MINPP1_ENST00000536010.1_Missense_Mutation_p.G168A|MINPP1_ENST00000371994.4_Missense_Mutation_p.V292L|MINPP1_ENST00000472891.1_3'UTR	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	369					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CTCCAGTTTGGTCATGCAGAG	0.368																																																	0			10											93.0	90.0	91.0					10																	89311877		2203	4300	6503	89301857	SO:0001583	missense	9562			AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.1106G>C	10.37:g.89311877G>C	ENSP00000361064:p.Gly369Ala		89301857	F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	ENST00000371996.4	37	CCDS7384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.092095|4.092095	0.76756|0.76756	.|.	.|.	ENSG00000107789|ENSG00000107789	ENST00000371996;ENST00000546140;ENST00000536010|ENST00000371994	T;T|T	0.26067|0.77620	1.76;1.76|-1.11	6.08|6.08	5.17|5.17	0.71159|0.71159	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61776|0.61776	0.2374|0.2374	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	P|B	0.47191|0.29988	0.891|0.264	P|B	0.58577|0.24269	0.841|0.052	T|T	0.59627|0.59627	-0.7419|-0.7419	9|8	0.07990|0.08599	T|T	0.79|0.76	-9.1256|-9.1256	16.0026|16.0026	0.80306|0.80306	0.0:0.0:0.8646:0.1353|0.0:0.0:0.8646:0.1353	.|.	369|292	Q9UNW1|Q9UNW1-2	MINP1_HUMAN|.	A|L	369;228;168|292	ENSP00000361064:G369A;ENSP00000437823:G168A|ENSP00000361062:V292L	ENSP00000361064:G369A|ENSP00000361062:V292L	G|V	+|+	2|1	0|0	MINPP1|MINPP1	89301857|89301857	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	9.325000|9.325000	0.96381|0.96381	1.574000|1.574000	0.49760|0.49760	0.591000|0.591000	0.81541|0.81541	GGT|GTC		0.368	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1		
PTEN	5728	hgsc.bcm.edu	37	10	89653816	89653816	+	Silent	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr10:89653816T>C	ENST00000371953.3	+	2	1471	c.114T>C	c.(112-114)ccT>ccC	p.P38P		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	38	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGGATTTCCTGCAGAAAGAC	0.289		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	47	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(2)	prostate(14)|central_nervous_system(8)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|urinary_tract(1)|NS(1)|kidney(1)	10											112.0	111.0	112.0					10																	89653816		2203	4296	6499	89643796	SO:0001819	synonymous_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.114T>C	10.37:g.89653816T>C			89643796	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				0.289	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89720728	89720728	+	Silent	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr10:89720728A>G	ENST00000371953.3	+	8	2236	c.879A>G	c.(877-879)ggA>ggG	p.G293G	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	293	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.G293G(1)|p.W274_F341del(1)|p.G293fs*4(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAGAAAATGGAAGTCTATGTG	0.318		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	52	Whole gene deletion(37)|Deletion - Frameshift(10)|Deletion - In frame(2)|Unknown(2)|Substitution - coding silent(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|stomach(1)|soft_tissue(1)|endometrium(1)	10											75.0	76.0	75.0					10																	89720728		2203	4298	6501	89710708	SO:0001819	synonymous_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.879A>G	10.37:g.89720728A>G			89710708	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				0.318	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89720742	89720742	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr10:89720742A>G	ENST00000371953.3	+	8	2250	c.893A>G	c.(892-894)cAa>cGa	p.Q298R	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	298	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTATGTGATCAAGAAATCGAT	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	50	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	10											91.0	90.0	90.0					10																	89720742		2203	4299	6502	89710722	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.893A>G	10.37:g.89720742A>G	ENSP00000361021:p.Gln298Arg		89710722	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.257615	0.22965	.	.	ENSG00000171862	ENST00000371953	D	0.94457	-3.43	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.221302	0.47093	D	0.000259	D	0.87180	0.6113	N	0.13098	0.295	0.39166	D	0.96249	B	0.02656	0.0	B	0.06405	0.002	T	0.83062	-0.0147	9	.	.	.	-10.289	11.5808	0.50889	0.8508:0.1492:0.0:0.0	.	298	P60484	PTEN_HUMAN	R	298	ENSP00000361021:Q298R	.	Q	+	2	0	PTEN	89710722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.359000	0.66074	1.942000	0.56320	0.482000	0.46254	CAA		0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
ANKRD22	118932	hgsc.bcm.edu	37	10	90582737	90582737	+	Silent	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr10:90582737T>C	ENST00000371930.4	-	6	747	c.537A>G	c.(535-537)aaA>aaG	p.K179K	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	179										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TCTGGGAAAATTTTAATCTCC	0.393																																																	0			10											113.0	121.0	118.0					10																	90582737		2203	4300	6503	90572717	SO:0001819	synonymous_variant	118932			BC021671	CCDS7390.1	10q23.31	2013-09-20			ENSG00000152766	ENSG00000152766		"""Ankyrin repeat domain containing"""	28321	protein-coding gene	gene with protein product						12477932	Standard	NM_144590		Approved	MGC22805	uc001kfj.4	Q5VYY1	OTTHUMG00000018699	ENST00000371930.4:c.537A>G	10.37:g.90582737T>C			90572717	B2R9Y7|Q8WU06	Silent	SNP	ENST00000371930.4	37	CCDS7390.1																																																																																				0.393	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049262.1	NM_144590	
PDCD4	27250	hgsc.bcm.edu	37	10	112641175	112641175	+	Silent	SNP	G	G	A	rs372715017	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr10:112641175G>A	ENST00000280154.7	+	3	502	c.228G>A	c.(226-228)tcG>tcA	p.S76S	PDCD4_ENST00000393104.2_Silent_p.S65S	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	76					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.S76S(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GAGGCGATTCGGTCAGCGACA	0.498													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17068	0.0		0.0	False		,,,				2504	0.0				Ovarian(115;1498 1603 9363 40056 40885)												1	Substitution - coding silent(1)	ovary(1)	10						G	,,	2,4404	4.2+/-10.8	0,2,2201	92.0	99.0	97.0		186,228,195	-11.4	0.1	10		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PDCD4	NM_001199492.1,NM_014456.4,NM_145341.3	,,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,,	62/456,76/470,65/459	112641175	3,13003	2203	4300	6503	112631165	SO:0001819	synonymous_variant	27250			U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.228G>A	10.37:g.112641175G>A			112631165	B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Silent	SNP	ENST00000280154.7	37	CCDS7567.1																																																																																				0.498	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456	
PNLIP	5406	hgsc.bcm.edu	37	10	118318795	118318795	+	Splice_Site	SNP	C	C	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr10:118318795C>A	ENST00000369221.2	+	10	1088	c.1060C>A	c.(1060-1062)Cgt>Agt	p.R354S		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	354					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.R354C(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TAATTTTGCACGTAAGTTTCT	0.343																																																	1	Substitution - Missense(1)	central_nervous_system(1)	10											97.0	94.0	95.0					10																	118318795		2203	4300	6503	118308785	SO:0001630	splice_region_variant	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1060+1C>A	10.37:g.118318795C>A			118308785	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486103	0.44147	.	.	ENSG00000175535	ENST00000369221	T	0.44881	0.91	6.16	6.16	0.99307	Lipase/lipooxygenase, PLAT/LH2 (1);	0.082771	0.51477	D	0.000091	T	0.49830	0.1580	M	0.71581	2.175	0.50171	D	0.999857	D	0.58620	0.983	P	0.51516	0.672	T	0.40421	-0.9564	10	0.10636	T	0.68	.	13.5646	0.61810	0.0:0.9261:0.0:0.0739	.	354	P16233	LIPP_HUMAN	S	354	ENSP00000358223:R354S	ENSP00000358223:R354S	R	+	1	0	PNLIP	118308785	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	2.541000	0.45735	2.937000	0.99478	0.650000	0.86243	CGT		0.343	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936	Missense_Mutation
VAX1	11023	hgsc.bcm.edu	37	10	118891808	118891808	+	IGR	SNP	T	T	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr10:118891808T>G	ENST00000369206.5	-	0	1723				VAX1_ENST00000277905.2_Missense_Mutation_p.K158T	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1						axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CTTTTGTTTTTTTATCCTTCA	0.408																																																	0			10											45.0	53.0	51.0					10																	118891808		2203	4300	6503	118881798	SO:0001628	intergenic_variant	11023			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117		10.37:g.118891808T>G			118881798	B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	T	0.218	-1.030623	0.02045	.	.	ENSG00000148704	ENST00000277905	D	0.89123	-2.47	4.07	0.253	0.15551	.	.	.	.	.	T	0.77844	0.4191	.	.	.	0.09310	N	1	P	0.40476	0.718	B	0.35353	0.201	T	0.65994	-0.6033	8	0.32370	T	0.25	.	3.8503	0.08953	0.3277:0.0942:0.0:0.578	.	158	Q5SQQ9-2	.	T	158	ENSP00000277905:K158T	ENSP00000277905:K158T	K	-	2	0	VAX1	118881798	0.998000	0.40836	0.001000	0.08648	0.099000	0.18886	2.130000	0.42064	0.027000	0.15297	0.533000	0.62120	AAA		0.408	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242	
CTNND2	1501	hgsc.bcm.edu	37	5	11565132	11565132	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr5:11565132C>T	ENST00000304623.8	-	3	400	c.211G>A	c.(211-213)Gct>Act	p.A71T	CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A71T|CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	71					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCCGTTCAGCCTCCAGCTCT	0.502																																																	0			5											87.0	70.0	76.0					5																	11565132		2203	4300	6503	11618132	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.211G>A	5.37:g.11565132C>T	ENSP00000307134:p.Ala71Thr		11618132	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468860	0.84533	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000502551;ENST00000508761	T;T	0.77750	-1.05;-1.12	5.77	4.9	0.64082	.	0.000000	0.64402	D	0.000012	T	0.66790	0.2825	L	0.29908	0.895	0.80722	D	1	P	0.38922	0.651	B	0.35859	0.212	T	0.66590	-0.5885	10	0.33940	T	0.23	-9.119	14.7597	0.69596	0.0:0.845:0.155:0.0	.	71	Q9UQB3	CTND2_HUMAN	T	71;71;57;57	ENSP00000307134:A71T;ENSP00000352661:A71T	ENSP00000307134:A71T	A	-	1	0	CTNND2	11618132	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.389000	0.79806	1.563000	0.49615	0.655000	0.94253	GCT		0.502	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
FST	10468	hgsc.bcm.edu	37	5	52779467	52779467	+	Silent	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr5:52779467A>G	ENST00000256759.3	+	3	794	c.411A>G	c.(409-411)aaA>aaG	p.K137K	FST_ENST00000396947.3_Silent_p.K137K	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	137	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				TGGATGGGAAAACCTACCGCA	0.512																																																	0			5											74.0	72.0	72.0					5																	52779467		2203	4300	6503	52815224	SO:0001819	synonymous_variant	10468			M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.411A>G	5.37:g.52779467A>G			52815224	B5BU94|Q9BTH0	Silent	SNP	ENST00000256759.3	37	CCDS3959.1																																																																																				0.512	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409	
APC	324	hgsc.bcm.edu	37	5	112174784	112174784	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr5:112174784A>T	ENST00000457016.1	+	16	3873	c.3493A>T	c.(3493-3495)Aaa>Taa	p.K1165*	APC_ENST00000257430.4_Nonsense_Mutation_p.K1165*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.K1165*			P25054	APC_HUMAN	adenomatous polyposis coli	1165	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1165*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTATAGCATAAAATATAATGA	0.333		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Substitution - Nonsense(1)|Unknown(1)	large_intestine(1)|skin(1)	5											58.0	61.0	60.0					5																	112174784		2202	4299	6501	112202683	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3493A>T	5.37:g.112174784A>T	ENSP00000413133:p.Lys1165*		112202683	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	38	7.110393	0.98070	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.3002	16.0796	0.80995	1.0:0.0:0.0:0.0	.	.	.	.	X	1165	.	.	K	+	1	0	APC	112202683	1.000000	0.71417	0.996000	0.52242	0.891000	0.51852	3.954000	0.56708	2.206000	0.71126	0.533000	0.62120	AAA		0.333	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175207	112175207	+	Nonsense_Mutation	SNP	G	G	T	rs121913462		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr5:112175207G>T	ENST00000457016.1	+	16	4296	c.3916G>T	c.(3916-3918)Gaa>Taa	p.E1306*	APC_ENST00000257430.4_Nonsense_Mutation_p.E1306*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.E1306*			P25054	APC_HUMAN	adenomatous polyposis coli	1306	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1306*(25)|p.E1306K(2)|p.K1192fs*3(1)|p.?(1)|p.E1306fs*8(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCAAATAGCAGAAATAAAAGA	0.428		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	30	Substitution - Nonsense(25)|Substitution - Missense(2)|Deletion - Frameshift(2)|Unknown(1)	large_intestine(26)|pancreas(1)|soft_tissue(1)|liver(1)|skin(1)	5	GRCh37	CM077502	APC	M	rs121913462						53.0	55.0	54.0					5																	112175207		2202	4300	6502	112203106	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3916G>T	5.37:g.112175207G>T	ENSP00000413133:p.Glu1306*		112203106	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	37	6.245438	0.97408	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	5.73	5.73	0.89815	.	0.179091	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.6779	14.1203	0.65182	0.0727:0.0:0.9273:0.0	.	.	.	.	X	1306	.	.	E	+	1	0	APC	112203106	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.734000	0.62043	2.861000	0.98227	0.655000	0.94253	GAA		0.428	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
ANKHD1	54882	hgsc.bcm.edu	37	5	139903763	139903763	+	Missense_Mutation	SNP	A	A	G	rs369260709		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr5:139903763A>G	ENST00000360839.2	+	25	4584	c.4430A>G	c.(4429-4431)aAc>aGc	p.N1477S	ANKHD1_ENST00000544120.1_5'Flank|ANKHD1_ENST00000297183.6_Missense_Mutation_p.N1477S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.N1477S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1477						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGAAGAAAACAAACCTAAG	0.358																																																	0			5						A	SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	130.0	123.0	126.0		4430,4430	5.0	1.0	5		126	0,8600		0,0,4300	no	missense,missense	ANKHD1,ANKHD1-EIF4EBP3	NM_020690.5,NM_017747.2	46,46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign	1477/2618,1477/2543	139903763	1,13005	2203	4300	6503	139883947	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4430A>G	5.37:g.139903763A>G	ENSP00000354085:p.Asn1477Ser		139883947	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.206503	0.39003	2.27E-4	0.0	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000431508;ENST00000532219	T;T;T;T;T	0.64803	-0.08;-0.12;-0.02;1.96;-0.12	5.0	5.0	0.66597	.	0.354425	0.32640	N	0.005836	T	0.34629	0.0904	N	0.04959	-0.14	0.25404	N	0.988411	B;B;B;B;B	0.10296	0.003;0.001;0.0;0.001;0.001	B;B;B;B;B	0.08055	0.002;0.002;0.0;0.003;0.001	T	0.16778	-1.0391	10	0.08179	T	0.78	.	9.2719	0.37677	0.9178:0.0:0.0822:0.0	.	1477;1477;1496;1477;1477	E9PF56;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.;.;.;.;ANKH1_HUMAN	S	1477;1477;1477;1496;133;1477	ENSP00000354085:N1477S;ENSP00000297183:N1477S;ENSP00000394489:N1496S;ENSP00000393204:N133S;ENSP00000432016:N1477S	ENSP00000432016:N1477S	N	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139883947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.539000	0.45718	2.006000	0.58801	0.528000	0.53228	AAC		0.358	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
PCDHA8	56140	hgsc.bcm.edu	37	5	140221294	140221294	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr5:140221294C>G	ENST00000531613.1	+	1	388	c.388C>G	c.(388-390)Ccg>Gcg	p.P130A	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P130A|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P130A(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGACAACCCGCCAGTGTT	0.567																																																	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	5											103.0	115.0	111.0					5																	140221294		2203	4299	6502	140201478	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.388C>G	5.37:g.140221294C>G	ENSP00000434655:p.Pro130Ala		140201478	B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	0.734	-0.778747	0.02929	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.18657	2.2;2.2	3.72	1.67	0.24075	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.213089	0.23185	N	0.050974	T	0.05640	0.0148	N	0.01188	-0.97	0.09310	N	1	B;B	0.14438	0.006;0.01	B;B	0.22601	0.04;0.01	T	0.42599	-0.9442	10	0.08179	T	0.78	.	7.0592	0.25115	0.0:0.3721:0.4471:0.1808	.	130;130	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	A	130	ENSP00000434655:P130A;ENSP00000367363:P130A	ENSP00000367363:P130A	P	+	1	0	PCDHA8	140201478	0.000000	0.05858	0.783000	0.31826	0.460000	0.32559	-1.589000	0.02104	0.652000	0.30806	0.552000	0.68991	CCG		0.567	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
RNF145	153830	hgsc.bcm.edu	37	5	158595954	158595954	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr5:158595954C>T	ENST00000424310.2	-	8	1407	c.1048G>A	c.(1048-1050)Gta>Ata	p.V350I	RNF145_ENST00000518802.1_Missense_Mutation_p.V380I|RNF145_ENST00000520638.1_Missense_Mutation_p.V364I|RNF145_ENST00000274542.2_Missense_Mutation_p.V378I|RNF145_ENST00000521606.2_Missense_Mutation_p.V367I|RNF145_ENST00000519865.1_Missense_Mutation_p.V350I	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	350						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATAGAAGCTACGACAATGAAA	0.408																																																	0			5											118.0	117.0	117.0					5																	158595954		2203	4300	6503	158528532	SO:0001583	missense	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1048G>A	5.37:g.158595954C>T	ENSP00000409064:p.Val350Ile		158528532	B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115532	0.56505	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.77877	-1.13;-1.12;-1.12;-1.13;-1.13;-1.13;-1.13	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.71550	0.3353	L	0.43152	1.355	0.80722	D	1	P;P;P;P;P	0.50369	0.922;0.922;0.922;0.934;0.904	B;B;B;B;B	0.40782	0.234;0.234;0.34;0.28;0.23	T	0.70085	-0.4969	10	0.21014	T	0.42	-14.435	18.836	0.92162	0.0:1.0:0.0:0.0	.	367;364;380;350;378	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	I	378;350;350;366;367;380;350;364	ENSP00000274542:V378I;ENSP00000430397:V350I;ENSP00000409064:V350I;ENSP00000430753:V366I;ENSP00000445115:V367I;ENSP00000430955:V380I;ENSP00000429071:V364I	ENSP00000274542:V378I	V	-	1	0	RNF145	158528532	1.000000	0.71417	0.114000	0.21550	0.681000	0.39784	7.776000	0.85560	2.516000	0.84829	0.585000	0.79938	GTA		0.408	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	
WWC1	23286	hgsc.bcm.edu	37	5	167887746	167887746	+	Splice_Site	SNP	G	G	A			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr5:167887746G>A	ENST00000265293.4	+	20	3417	c.2915G>A	c.(2914-2916)cGg>cAg	p.R972Q	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Splice_Site_p.R972Q	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	972	Interaction with PRKCZ.|Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGGATGAAGCGGGTAAGAGAG	0.532																																																	0			5											73.0	72.0	73.0					5																	167887746		2203	4300	6503	167820324	SO:0001630	splice_region_variant	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2916+1G>A	5.37:g.167887746G>A			167820324	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042729	0.75732	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.59364	0.27;0.27;0.27	5.62	5.62	0.85841	.	0.064020	0.64402	D	0.000011	T	0.66674	0.2813	L	0.39397	1.21	0.53688	D	0.999974	D;D	0.76494	0.999;0.997	P;P	0.61940	0.896;0.736	T	0.59747	-0.7396	10	0.23302	T	0.38	.	19.665	0.95890	0.0:0.0:1.0:0.0	.	972;972	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	Q	972;972;298	ENSP00000265293:R972Q;ENSP00000427772:R972Q;ENSP00000428084:R298Q	ENSP00000265293:R972Q	R	+	2	0	WWC1	167820324	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.417000	0.59822	2.640000	0.89533	0.650000	0.86243	CGG		0.532	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238	Missense_Mutation
ZNF354C	30832	hgsc.bcm.edu	37	5	178505825	178505825	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr5:178505825A>G	ENST00000315475.6	+	5	698	c.392A>G	c.(391-393)gAg>gGg	p.E131G		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GTGGAATTTGAGAGCGAGATA	0.378																																																	0			5											88.0	94.0	92.0					5																	178505825		2203	4300	6503	178438431	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.392A>G	5.37:g.178505825A>G	ENSP00000324064:p.Glu131Gly		178438431	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.765119	0.31228	.	.	ENSG00000177932	ENST00000315475	T	0.05925	3.37	3.87	2.66	0.31614	.	.	.	.	.	T	0.04998	0.0134	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.38499	-0.9658	9	0.39692	T	0.17	-4.6231	7.2189	0.25975	0.7724:0.2276:0.0:0.0	.	131	Q86Y25	Z354C_HUMAN	G	131	ENSP00000324064:E131G	ENSP00000324064:E131G	E	+	2	0	ZNF354C	178438431	0.057000	0.20700	0.003000	0.11579	0.019000	0.09904	1.850000	0.39328	0.610000	0.30035	0.482000	0.46254	GAG		0.378	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		
FAM189A1	23359	hgsc.bcm.edu	37	15	29415859	29415859	+	Splice_Site	SNP	C	C	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr15:29415859C>G	ENST00000261275.4	-	11	1303		c.e11-1			NM_015307.1	NP_056122.1	O60320	F1891_HUMAN	family with sequence similarity 189, member A1							integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1)	7						GACATGGAAGCTAAAAATCAA	0.532																																																	0			15											91.0	85.0	87.0					15																	29415859		692	1591	2283	27203151	SO:0001630	splice_region_variant	0				CCDS45198.1	15q12	2014-02-12				ENSG00000104059			29075	protein-coding gene	gene with protein product	"""transmembrane protein 228"""					9628581	Standard	NM_015307		Approved	KIAA0574, TMEM228	uc010azk.1	O60320		ENST00000261275.4:c.1304-1G>C	15.37:g.29415859C>G			27203151	A0PK09	Splice_Site	SNP	ENST00000261275.4	37	CCDS45198.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082282	0.55861	.	.	ENSG00000104059	ENST00000261275	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0949	0.89487	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM189A1	27203151	1.000000	0.71417	0.053000	0.19242	0.166000	0.22503	5.348000	0.66004	2.509000	0.84616	0.655000	0.94253	.		0.532	FAM189A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417254.1	NM_015307	Intron
FAAH2	158584	hgsc.bcm.edu	37	X	57319015	57319015	+	Splice_Site	SNP	T	T	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:57319015T>C	ENST00000374900.4	+	2	395		c.e2+2			NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2							integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)	p.?(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CAAGTACAGGTGAGCATTTCC	0.383										HNSCC(52;0.14)																																							1	Unknown(1)	ovary(1)	X											155.0	139.0	144.0					X																	57319015		2203	4300	6503	57335740	SO:0001630	splice_region_variant	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.275+2T>C	X.37:g.57319015T>C			57335740	Q86VT2|Q96N98	Splice_Site	SNP	ENST00000374900.4	37	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286112	0.40394	.	.	ENSG00000165591	ENST00000374900	.	.	.	2.95	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2418	0.26100	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAAH2	57335740	1.000000	0.71417	0.559000	0.28332	0.812000	0.45895	2.731000	0.47343	0.991000	0.38814	0.481000	0.45027	.		0.383	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912	Intron
VBP1	7411	hgsc.bcm.edu	37	X	154467052	154467052	+	Splice_Site	SNP	G	G	C			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chrX:154467052G>C	ENST00000286428.5	+	6	640		c.e6-1		VBP1_ENST00000535916.1_Splice_Site|VBP1_ENST00000459836.1_Splice_Site	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)				NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATTCTTGCAGATATGGCCAG	0.338																																																	0			X											150.0	148.0	148.0					X																	154467052		2203	4298	6501	154120246	SO:0001630	splice_region_variant	7411			U56833	CCDS14765.1	Xq28	2008-07-07			ENSG00000155959	ENSG00000155959			12662	protein-coding gene	gene with protein product	"""prefoldin 3"""	300133				8674032, 9339366	Standard	NM_003372		Approved	PFD3, PFDN3	uc004fnc.3	P61758	OTTHUMG00000022666	ENST00000286428.5:c.524-1G>C	X.37:g.154467052G>C			154120246	B2R8L5|O55228|Q15765|Q5JT81|Q86X96	Splice_Site	SNP	ENST00000286428.5	37	CCDS14765.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232152	0.58777	.	.	ENSG00000155959	ENST00000535916;ENST00000286428	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0552	0.71908	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VBP1	154120246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.781000	0.85668	2.359000	0.80004	0.594000	0.82650	.		0.338	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058806.1		Intron
DLX2	1746	hgsc.bcm.edu	37	2	172966865	172966865	+	Splice_Site	SNP	A	A	G			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:172966865A>G	ENST00000234198.4	-	1	762		c.e1+1		DLX2_ENST00000466293.2_Splice_Site|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2						brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)	p.?(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CGTTATGCATACCAGGCTCGT	0.562																																					GBM(188;775 2993 11256 23072)												1	Unknown(1)	ovary(1)	2											124.0	117.0	120.0					2																	172966865		2203	4300	6503	172675111	SO:0001630	splice_region_variant	9856			U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.400+1T>C	2.37:g.172966865A>G			172675111	B4DMK4|B7ZA14	Splice_Site	SNP	ENST00000234198.4	37	CCDS2248.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.894395	0.72639	.	.	ENSG00000115844	ENST00000234198;ENST00000466293	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0935	0.65006	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLX2	172675111	1.000000	0.71417	0.866000	0.34008	0.891000	0.51852	6.618000	0.74214	1.799000	0.52666	0.454000	0.30748	.		0.562	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3		Intron
RIC1	57589	hgsc.bcm.edu	37	9	5743014	5743014	+	Splice_Site	SNP	G	G	A	rs370606357		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr9:5743014G>A	ENST00000414202.2	+	9	1237		c.e9+1		KIAA1432_ENST00000449720.2_Splice_Site|KIAA1432_ENST00000418622.3_Splice_Site|KIAA1432_ENST00000381532.2_Splice_Site|KIAA1432_ENST00000251879.6_Splice_Site	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GAGATTTTGCGTAAGTCAAAA	0.373																																																	0			9											133.0	131.0	132.0					9																	5743014		2203	4300	6503	5733014	SO:0001630	splice_region_variant	57589																														ENST00000414202.2:c.1046+1G>A	9.37:g.5743014G>A			5733014		Splice_Site	SNP	ENST00000414202.2	37	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714597	0.89112	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000545641;ENST00000449720	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1432	5733014	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.342000	0.97044	2.941000	0.99782	0.655000	0.94253	.		0.373	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3		Intron
DDX4	54514	hgsc.bcm.edu	37	5	55111252	55111252	+	Splice_Site	SNP	G	G	T			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr5:55111252G>T	ENST00000505374.1	+	21	2189		c.e21+1		DDX4_ENST00000514278.2_Splice_Site|DDX4_ENST00000511853.1_Splice_Site|DDX4_ENST00000354991.5_Splice_Site|DDX4_ENST00000353507.5_Splice_Site	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4						male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TACCAGAAAGGTTAGTAGAAA	0.348																																																	0			5											104.0	100.0	102.0					5																	55111252		2203	4300	6503	55147009	SO:0001630	splice_region_variant	54514			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.2097+1G>T	5.37:g.55111252G>T			55147009	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Splice_Site	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588780	0.46110	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5171	0.61547	0.0:0.1567:0.8433:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX4	55147009	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	4.991000	0.63883	2.513000	0.84729	0.563000	0.77884	.		0.348	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415	Intron
ITGA6	3655	hgsc.bcm.edu	37	2	173349833	173349856	+	Splice_Site	DEL	CATGCTTTTCATGCAGGATAATAT	CATGCTTTTCATGCAGGATAATAT	-			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	CATGCTTTTCATGCAGGATAATAT	CATGCTTTTCATGCAGGATAATAT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:173349833_173349856delCATGCTTTTCATGCAGGATAATAT	ENST00000264106.6	+	14	2030_2038	c.1827_1835delCATGCTTTTCATGCAGGATAATAT	c.(1825-1836)cacatgcttttc>cac	p.MLF610del	ITGA6_ENST00000409532.1_Splice_Site_p.MLF452del|ITGA6_ENST00000343713.4_Splice_Site_p.MLF566del|ITGA6_ENST00000375221.2_Splice_Site_p.MLF610del|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_Splice_Site_p.MLF571del|ITGA6_ENST00000409080.1_Splice_Site_p.MLF571del			P23229	ITA6_HUMAN	integrin, alpha 6	610					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACTCTGACTGCATGCTTTTCATGCAGGATAATATCAGAGATAAA	0.406																																																	0			2																																								173058102	SO:0001630	splice_region_variant	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1828-1CATGCTTTTCATGCAGGATAATAT>-	2.37:g.173349833_173349856delCATGCTTTTCATGCAGGATAATAT			173058079	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Frame_Shift_Del	DEL	ENST00000264106.6	37																																																																																					0.406	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			In_Frame_Del
SPATA3	130560	hgsc.bcm.edu	37	2	231861033	231861059	+	In_Frame_Del	DEL	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA	-	rs13005918|rs72362780	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENST00000452881.1	+	1	193_219	c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	c.(85-111)cagcagcctagccctgaatccacaccadel	p.QQPSPESTP47del	AC105344.2_ENST00000414876.1_lincRNA|SPATA3_ENST00000424440.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000455816.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000433428.2_In_Frame_Del_p.QQPSPESTP47del			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	47			Missing.							endometrium(2)|lung(1)	3						TTCCACCTCTCAGCAGCCTAGCCCTGAATCCACACCACAGCAGCCTA	0.564																																																	0			2								924,1842		222,480,681						-8.0	0.0		dbSNP_130	187	2754,2350		871,1012,669	no	coding	SPATA3	NM_139073.3		1093,1492,1350	A1A1,A1R,RR		46.0423,33.4056,46.7344				3678,4192				231569303	SO:0001651	inframe_deletion	130560			AY032925	CCDS2481.1	2q37.1	2008-02-05			ENSG00000173699	ENSG00000173699			17884	protein-coding gene	gene with protein product							Standard	NM_139073		Approved	TSARG1	uc010zmd.2	Q8NHX4	OTTHUMG00000133221	ENST00000452881.1:c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	2.37:g.231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENSP00000388895:p.Gln47_Pro55del		231569277	Q86WX5|Q8N9Y6	In_Frame_Del	DEL	ENST00000452881.1	37	CCDS2481.1																																																																																				0.564	SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256956.2	NM_139073	
MUC4	4585	hgsc.bcm.edu	37	3	195508450	195508450	+	Frame_Shift_Del	DEL	G	G	-	rs568124972	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:195508450delG	ENST00000463781.3	-	2	10460	c.10001delC	c.(10000-10002)cctfs	p.P3334fs	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Del_p.P3334fs	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.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)		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)		TGCTGAGGAAGGGCTGGTGAC	0.592																																																	1	Deletion - In frame(1)	stomach(1)	3							,,	22,3408		2,18,1695	29.0	22.0	24.0		,,	-0.9	0.0	3	dbSNP_130	24	130,7010		12,106,3452	no	intron,frameshift,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	14,124,5147	A1A1,A1R,RR		1.8207,0.6414,1.438	,,	,,	195508450	152,10418	689	1574	2263	196993229	SO:0001589	frameshift_variant	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.10001delC	3.37:g.195508450delG	ENSP00000417498:p.Pro3334fs		196993229	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Frame_Shift_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195508454	195508455	+	Frame_Shift_Ins	INS	-	-	C	rs201319965	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:195508454_195508455insC	ENST00000463781.3	-	2	10455_10456	c.9996_9997insG	c.(9994-9999)accagcfs	p.S3333fs	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Ins_p.S3333fs	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.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)		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)		GAGGAAGGGCTGGTGACATGAA	0.594																																																	1	Deletion - In frame(1)	stomach(1)	3																																								196993234	SO:0001589	frameshift_variant	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.9996_9997insG	3.37:g.195508454_195508455insC	ENSP00000417498:p.Ser3333fs		196993233	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Frame_Shift_Ins	INS	ENST00000463781.3	37	CCDS54700.1																																																																																				0.594	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195514998	195515045	+	In_Frame_Del	DEL	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	-	rs200518052|rs538504516|rs199975352|rs200763050|rs552771790|rs570974278|rs368837663|rs201206859|rs199883835|rs78683709|rs201451131|rs76196931	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENST00000463781.3	-	2	3865_3912	c.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	c.(3406-3453)tctcttcctgtcaccgacacttcctcagtatccacaggtcacaccaccdel	p.SLPVTDTSSVSTGHTT1136del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.SLPVTDTSSVSTGHTT1136del	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	603					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.T1142S(3)|p.V1145A(2)|p.P1138L(1)|p.H1149H(1)|p.T1142T(1)|p.T1150A(1)		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)		CATGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGA	0.569																																																	9	Substitution - Missense(7)|Substitution - coding silent(2)	endometrium(4)|stomach(2)|skin(2)|kidney(1)	3							,,	1034,2304		279,476,914					,,	-1.1	0.0			8	2849,3303		990,869,1217	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	1269,1345,2131	A1A1,A1R,RR		46.3101,30.9766,40.9168	,,	,,		3883,5607				196999440	SO:0001651	inframe_deletion	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.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	3.37:g.195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENSP00000417498:p.Ser1136_Thr1151del		196999393	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.569	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388594	1388622	+	Frame_Shift_Del	DEL	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT	-	rs76374232|rs151313714|rs540461234|rs75969203|rs558358960|rs79704405|rs200174708	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr4:1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENST00000324803.4	+	1	3255_3283	c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	c.(295-324)cacgtgcccatgtggagtgcccgcctgctcfs	p.HVPMWSARLL99fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	99					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L108H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCTCACACACGTGCCCATGTGGAGTGCCCGCCTGCTCACGTGCCCA	0.655																																																	1	Substitution - Missense(1)	pancreas(1)	4																																								1378622	SO:0001589	frameshift_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	4.37:g.1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENSP00000323978:p.His99fs		1378594	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																				0.655	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
TNKS2	80351	hgsc.bcm.edu	37	10	93601946	93601946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr10:93601946delA	ENST00000371627.4	+	16	2236	c.1857delA	c.(1855-1857)acafs	p.T619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CAGACCCTACAAAAAAAAACA	0.393																																																	1	Deletion - Frameshift(1)	large_intestine(1)	10											66.0	69.0	68.0					10																	93601946		2203	4300	6503	93591926	SO:0001589	frameshift_variant	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1857delA	10.37:g.93601946delA	ENSP00000360689:p.Thr619fs		93591926	B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Del	DEL	ENST00000371627.4	37	CCDS7417.1																																																																																				0.393	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
FAM186A	121006	hgsc.bcm.edu	37	12	50745913	50745948	+	In_Frame_Del	DEL	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	-	rs34283706|rs538502101|rs34000017|rs35116763		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:50745913_50745948delTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	ENST00000327337.5	-	4	4666_4701	c.4667_4702delTCCCTCCGCAGGCTCAGGAATTGGAGATCCCTCTCA	c.(4666-4704)atccctccgcaggctcaggaattggagatccctctcacc>acc	p.IPPQAQELEIPL1556del	FAM186A_ENST00000543111.1_In_Frame_Del_p.IPPQAQELEIPL1556del|FAM186A_ENST00000543096.1_5'Flank	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1556																	TGCTGAGGGGTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGATGAGAGGGAT	0.665																																					NSCLC(138;1796 1887 12511 19463 37884)												0			12																																								49032215	SO:0001651	inframe_deletion	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4667_4702delTCCCTCCGCAGGCTCAGGAATTGGAGATCCCTCTCA	12.37:g.50745913_50745948delTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	ENSP00000329995:p.Ile1556_Leu1567del		49032180		In_Frame_Del	DEL	ENST00000327337.5	37	CCDS44878.1																																																																																				0.665	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1	XM_001718353	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del		120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
PYGL	5836	hgsc.bcm.edu	37	14	51378483	51378483	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr14:51378483delA	ENST00000216392.7	-	16	2266	c.1934delT	c.(1933-1935)ttcfs	p.F645fs	RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Frame_Shift_Del_p.F611fs|PYGL_ENST00000532462.1_Frame_Shift_Del_p.F645fs	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	645					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GTTCTCCAAGAAGATGACTTT	0.428																																																	0			14											94.0	85.0	88.0					14																	51378483		2203	4300	6503	50448233	SO:0001589	frameshift_variant	5836				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1934delT	14.37:g.51378483delA	ENSP00000216392:p.Phe645fs		50448233	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Frame_Shift_Del	DEL	ENST00000216392.7	37	CCDS32080.1																																																																																				0.428	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863	
PIEZO1	9780	hgsc.bcm.edu	37	16	88789666	88789667	+	In_Frame_Ins	INS	-	-	CCTGCT	rs11281795	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr16:88789666_88789667insCCTGCT	ENST00000301015.9	-	32	4651_4652	c.4405_4406insAGCAGG	c.(4405-4407)gca>gAGCAGGca	p.1468_1469insEQ	RP5-1142A6.9_ENST00000564984.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1468					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TTCCTGCCTTGCCTGCTCCTGC	0.693														570	0.113818	0.2126	0.0749	5008	,	,		15281	0.0635		0.1004	False		,,,				2504	0.0736																0			16								656,2422		158,340,1041						-4.8	0.0		dbSNP_120	27	690,5228		145,400,2414	no	coding	PIEZO1	NM_001142864.2		303,740,3455	A1A1,A1R,RR		11.6593,21.3125,14.9622				1346,7650				87317168	SO:0001652	inframe_insertion	9780			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.4400_4405dupAGCAGG	16.37:g.88789667_88789672dupCCTGCT	ENSP00000301015:p.Glu1467_Gln1468dup		87317167	A6NHT9|A7E2B7|Q0KKZ9	In_Frame_Ins	INS	ENST00000301015.9	37	CCDS54058.1																																																																																				0.693	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745	
SOX9	6662	hgsc.bcm.edu	37	17	70119038	70119039	+	In_Frame_Ins	INS	-	-	AAG			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr17:70119038_70119039insAAG	ENST00000245479.2	+	2	982_983	c.610_611insAAG	c.(610-612)ttc>tAAGtc	p.204_204F>*V		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	204					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAACGCCATCTTCAAGGCGCTG	0.678																																					Pancreas(42;83 1041 2320 35205 39456)												0			17																																								67630634	SO:0001652	inframe_insertion	6662			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	Exception_encountered	17.37:g.70119038_70119039insAAG	ENSP00000245479:p.Phe204delins*Val		67630633	Q53Y80	In_Frame_Del	INS	ENST00000245479.2	37	CCDS11689.1																																																																																				0.678	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346	
SIGLECL1	284369	hgsc.bcm.edu	37	19	51769113	51769113	+	Frame_Shift_Del	DEL	C	C	-	rs149317024		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr19:51769113delC	ENST00000316401.7	+	4	768	c.387delC	c.(385-387)ctcfs	p.L129fs	SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Frame_Shift_Del_p.L35fs|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	491	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TTGCGCTGCTCTTCCTCTGCC	0.562																																																	0			19											225.0	207.0	213.0					19																	51769113		2203	4300	6503	56460925	SO:0001589	frameshift_variant	0			AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.387delC	19.37:g.51769113delC	ENSP00000321249:p.Leu129fs		56460925	Q8IYH7	Frame_Shift_Del	DEL	ENST00000316401.7	37	CCDS12827.1																																																																																				0.562	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635	
ITGA6	3655	hgsc.bcm.edu	37	2	173349833	173349856	+	Splice_Site	DEL	CATGCTTTTCATGCAGGATAATAT	CATGCTTTTCATGCAGGATAATAT	-			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	CATGCTTTTCATGCAGGATAATAT	CATGCTTTTCATGCAGGATAATAT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:173349833_173349856delCATGCTTTTCATGCAGGATAATAT	ENST00000264106.6	+	14	2030_2038	c.1827_1835delCATGCTTTTCATGCAGGATAATAT	c.(1825-1836)cacatgcttttc>cac	p.MLF610del	ITGA6_ENST00000409532.1_Splice_Site_p.MLF452del|ITGA6_ENST00000343713.4_Splice_Site_p.MLF566del|ITGA6_ENST00000375221.2_Splice_Site_p.MLF610del|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_Splice_Site_p.MLF571del|ITGA6_ENST00000409080.1_Splice_Site_p.MLF571del			P23229	ITA6_HUMAN	integrin, alpha 6	610					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACTCTGACTGCATGCTTTTCATGCAGGATAATATCAGAGATAAA	0.406																																																	0			2																																								173058102	SO:0001630	splice_region_variant	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1828-1CATGCTTTTCATGCAGGATAATAT>-	2.37:g.173349833_173349856delCATGCTTTTCATGCAGGATAATAT			173058079	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Frame_Shift_Del	DEL	ENST00000264106.6	37																																																																																					0.406	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			In_Frame_Del
SPATA3	130560	hgsc.bcm.edu	37	2	231861033	231861059	+	In_Frame_Del	DEL	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA	-	rs13005918|rs72362780	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr2:231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENST00000452881.1	+	1	193_219	c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	c.(85-111)cagcagcctagccctgaatccacaccadel	p.QQPSPESTP47del	AC105344.2_ENST00000414876.1_lincRNA|SPATA3_ENST00000424440.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000455816.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000433428.2_In_Frame_Del_p.QQPSPESTP47del			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	47			Missing.							endometrium(2)|lung(1)	3						TTCCACCTCTCAGCAGCCTAGCCCTGAATCCACACCACAGCAGCCTA	0.564																																																	0			2								924,1842		222,480,681						-8.0	0.0		dbSNP_130	187	2754,2350		871,1012,669	no	coding	SPATA3	NM_139073.3		1093,1492,1350	A1A1,A1R,RR		46.0423,33.4056,46.7344				3678,4192				231569303	SO:0001651	inframe_deletion	130560			AY032925	CCDS2481.1	2q37.1	2008-02-05			ENSG00000173699	ENSG00000173699			17884	protein-coding gene	gene with protein product							Standard	NM_139073		Approved	TSARG1	uc010zmd.2	Q8NHX4	OTTHUMG00000133221	ENST00000452881.1:c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	2.37:g.231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENSP00000388895:p.Gln47_Pro55del		231569277	Q86WX5|Q8N9Y6	In_Frame_Del	DEL	ENST00000452881.1	37	CCDS2481.1																																																																																				0.564	SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256956.2	NM_139073	
MUC4	4585	hgsc.bcm.edu	37	3	195508450	195508450	+	Frame_Shift_Del	DEL	G	G	-	rs568124972	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:195508450delG	ENST00000463781.3	-	2	10460	c.10001delC	c.(10000-10002)cctfs	p.P3334fs	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Del_p.P3334fs	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.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)		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)		TGCTGAGGAAGGGCTGGTGAC	0.592																																																	1	Deletion - In frame(1)	stomach(1)	3							,,	22,3408		2,18,1695	29.0	22.0	24.0		,,	-0.9	0.0	3	dbSNP_130	24	130,7010		12,106,3452	no	intron,frameshift,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	14,124,5147	A1A1,A1R,RR		1.8207,0.6414,1.438	,,	,,	195508450	152,10418	689	1574	2263	196993229	SO:0001589	frameshift_variant	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.10001delC	3.37:g.195508450delG	ENSP00000417498:p.Pro3334fs		196993229	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Frame_Shift_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195508454	195508455	+	Frame_Shift_Ins	INS	-	-	C	rs201319965	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:195508454_195508455insC	ENST00000463781.3	-	2	10455_10456	c.9996_9997insG	c.(9994-9999)accagcfs	p.S3333fs	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Ins_p.S3333fs	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.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)		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)		GAGGAAGGGCTGGTGACATGAA	0.594																																																	1	Deletion - In frame(1)	stomach(1)	3																																								196993234	SO:0001589	frameshift_variant	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.9996_9997insG	3.37:g.195508454_195508455insC	ENSP00000417498:p.Ser3333fs		196993233	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Frame_Shift_Ins	INS	ENST00000463781.3	37	CCDS54700.1																																																																																				0.594	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195514998	195515045	+	In_Frame_Del	DEL	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	-	rs200518052|rs538504516|rs199975352|rs200763050|rs552771790|rs570974278|rs368837663|rs201206859|rs199883835|rs78683709|rs201451131|rs76196931	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr3:195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENST00000463781.3	-	2	3865_3912	c.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	c.(3406-3453)tctcttcctgtcaccgacacttcctcagtatccacaggtcacaccaccdel	p.SLPVTDTSSVSTGHTT1136del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.SLPVTDTSSVSTGHTT1136del	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	603					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.T1142S(3)|p.V1145A(2)|p.P1138L(1)|p.H1149H(1)|p.T1142T(1)|p.T1150A(1)		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)		CATGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGA	0.569																																																	9	Substitution - Missense(7)|Substitution - coding silent(2)	endometrium(4)|stomach(2)|skin(2)|kidney(1)	3							,,	1034,2304		279,476,914					,,	-1.1	0.0			8	2849,3303		990,869,1217	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	1269,1345,2131	A1A1,A1R,RR		46.3101,30.9766,40.9168	,,	,,		3883,5607				196999440	SO:0001651	inframe_deletion	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.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	3.37:g.195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENSP00000417498:p.Ser1136_Thr1151del		196999393	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.569	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388594	1388622	+	Frame_Shift_Del	DEL	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT	-	rs76374232|rs151313714|rs540461234|rs75969203|rs558358960|rs79704405|rs200174708	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr4:1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENST00000324803.4	+	1	3255_3283	c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	c.(295-324)cacgtgcccatgtggagtgcccgcctgctcfs	p.HVPMWSARLL99fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	99					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L108H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCTCACACACGTGCCCATGTGGAGTGCCCGCCTGCTCACGTGCCCA	0.655																																																	1	Substitution - Missense(1)	pancreas(1)	4																																								1378622	SO:0001589	frameshift_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	4.37:g.1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENSP00000323978:p.His99fs		1378594	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																				0.655	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
TNKS2	80351	hgsc.bcm.edu	37	10	93601946	93601946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr10:93601946delA	ENST00000371627.4	+	16	2236	c.1857delA	c.(1855-1857)acafs	p.T619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CAGACCCTACAAAAAAAAACA	0.393																																																	1	Deletion - Frameshift(1)	large_intestine(1)	10											66.0	69.0	68.0					10																	93601946		2203	4300	6503	93591926	SO:0001589	frameshift_variant	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1857delA	10.37:g.93601946delA	ENSP00000360689:p.Thr619fs		93591926	B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Del	DEL	ENST00000371627.4	37	CCDS7417.1																																																																																				0.393	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
FAM186A	121006	hgsc.bcm.edu	37	12	50745913	50745948	+	In_Frame_Del	DEL	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	-	rs34283706|rs538502101|rs34000017|rs35116763		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:50745913_50745948delTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	ENST00000327337.5	-	4	4666_4701	c.4667_4702delTCCCTCCGCAGGCTCAGGAATTGGAGATCCCTCTCA	c.(4666-4704)atccctccgcaggctcaggaattggagatccctctcacc>acc	p.IPPQAQELEIPL1556del	FAM186A_ENST00000543111.1_In_Frame_Del_p.IPPQAQELEIPL1556del|FAM186A_ENST00000543096.1_5'Flank	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1556																	TGCTGAGGGGTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGATGAGAGGGAT	0.665																																					NSCLC(138;1796 1887 12511 19463 37884)												0			12																																								49032215	SO:0001651	inframe_deletion	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4667_4702delTCCCTCCGCAGGCTCAGGAATTGGAGATCCCTCTCA	12.37:g.50745913_50745948delTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	ENSP00000329995:p.Ile1556_Leu1567del		49032180		In_Frame_Del	DEL	ENST00000327337.5	37	CCDS44878.1																																																																																				0.665	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1	XM_001718353	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del		120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
PYGL	5836	hgsc.bcm.edu	37	14	51378483	51378483	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr14:51378483delA	ENST00000216392.7	-	16	2266	c.1934delT	c.(1933-1935)ttcfs	p.F645fs	RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Frame_Shift_Del_p.F611fs|PYGL_ENST00000532462.1_Frame_Shift_Del_p.F645fs	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	645					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GTTCTCCAAGAAGATGACTTT	0.428																																																	0			14											94.0	85.0	88.0					14																	51378483		2203	4300	6503	50448233	SO:0001589	frameshift_variant	5836				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1934delT	14.37:g.51378483delA	ENSP00000216392:p.Phe645fs		50448233	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Frame_Shift_Del	DEL	ENST00000216392.7	37	CCDS32080.1																																																																																				0.428	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863	
PIEZO1	9780	hgsc.bcm.edu	37	16	88789666	88789667	+	In_Frame_Ins	INS	-	-	CCTGCT	rs11281795	byFrequency	TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr16:88789666_88789667insCCTGCT	ENST00000301015.9	-	32	4651_4652	c.4405_4406insAGCAGG	c.(4405-4407)gca>gAGCAGGca	p.1468_1469insEQ	RP5-1142A6.9_ENST00000564984.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1468					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TTCCTGCCTTGCCTGCTCCTGC	0.693														570	0.113818	0.2126	0.0749	5008	,	,		15281	0.0635		0.1004	False		,,,				2504	0.0736																0			16								656,2422		158,340,1041						-4.8	0.0		dbSNP_120	27	690,5228		145,400,2414	no	coding	PIEZO1	NM_001142864.2		303,740,3455	A1A1,A1R,RR		11.6593,21.3125,14.9622				1346,7650				87317168	SO:0001652	inframe_insertion	9780			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.4400_4405dupAGCAGG	16.37:g.88789667_88789672dupCCTGCT	ENSP00000301015:p.Glu1467_Gln1468dup		87317167	A6NHT9|A7E2B7|Q0KKZ9	In_Frame_Ins	INS	ENST00000301015.9	37	CCDS54058.1																																																																																				0.693	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745	
SOX9	6662	hgsc.bcm.edu	37	17	70119038	70119039	+	In_Frame_Ins	INS	-	-	AAG			TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr17:70119038_70119039insAAG	ENST00000245479.2	+	2	982_983	c.610_611insAAG	c.(610-612)ttc>tAAGtc	p.204_204F>*V		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	204					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAACGCCATCTTCAAGGCGCTG	0.678																																					Pancreas(42;83 1041 2320 35205 39456)												0			17																																								67630634	SO:0001652	inframe_insertion	6662			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	Exception_encountered	17.37:g.70119038_70119039insAAG	ENSP00000245479:p.Phe204delins*Val		67630633	Q53Y80	In_Frame_Del	INS	ENST00000245479.2	37	CCDS11689.1																																																																																				0.678	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346	
SIGLECL1	284369	hgsc.bcm.edu	37	19	51769113	51769113	+	Frame_Shift_Del	DEL	C	C	-	rs149317024		TCGA-F5-6465-01A-11D-1733-10	TCGA-F5-6465-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	9f79e099-5b22-4299-a3fb-94de8acdaedb	405707a2-f7e0-45b2-8215-fe3cbecb56fd	g.chr19:51769113delC	ENST00000316401.7	+	4	768	c.387delC	c.(385-387)ctcfs	p.L129fs	SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Frame_Shift_Del_p.L35fs|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	491	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TTGCGCTGCTCTTCCTCTGCC	0.562																																																	0			19											225.0	207.0	213.0					19																	51769113		2203	4300	6503	56460925	SO:0001589	frameshift_variant	0			AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.387delC	19.37:g.51769113delC	ENSP00000321249:p.Leu129fs		56460925	Q8IYH7	Frame_Shift_Del	DEL	ENST00000316401.7	37	CCDS12827.1																																																																																				0.562	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635	
