#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
PAPOLB	56903	hgsc.bcm.edu	37	7	4900243	4900243	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:4900243C>T	ENST00000404991.1	-	1	1382	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	399		Interaction with RNA. {ECO:0000250}.			mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AACCAGGATTCGGATCTTTGA	0.398																																																	0			7											194.0	208.0	203.0					7																	4900243		2202	4300	6502	4866769	SO:0001583	missense	56903			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1196G>A	7.37:g.4900243C>T	ENSP00000384700:p.Arg399Gln		4866769	Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37		.	.	.	.	.	.	.	.	.	.	C	20.5	3.996640	0.74818	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.7	3.78	0.43462	.	.	.	.	.	T	0.69079	0.3071	M	0.82630	2.6	0.80722	D	1	D	0.60160	0.987	P	0.54210	0.745	T	0.74575	-0.3620	8	0.87932	D	0	.	10.5264	0.44952	0.0:0.9:0.0:0.1	.	400	A4D1Z6	.	Q	399	.	ENSP00000384700:R399Q	R	-	2	0	PAPOLB	4866769	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	7.609000	0.82925	1.520000	0.48965	0.591000	0.81541	CGA		0.398	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144	
HERPUD2	64224	hgsc.bcm.edu	37	7	35674831	35674831	+	Silent	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:35674831T>C	ENST00000396081.1	-	6	1659	c.855A>G	c.(853-855)cgA>cgG	p.R285R	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.R285R	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	285					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GAATCGCAGCTCGTGAGAACG	0.413																																																	0			7											184.0	165.0	171.0					7																	35674831		2203	4300	6503	35641356	SO:0001819	synonymous_variant	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.855A>G	7.37:g.35674831T>C			35641356	A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	CCDS5446.1																																																																																				0.413	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373	
AMPH	273	hgsc.bcm.edu	37	7	38516554	38516554	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:38516554G>A	ENST00000356264.2	-	6	627	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	AMPH_ENST00000325590.5_Missense_Mutation_p.R138C|AMPH_ENST00000428293.2_Missense_Mutation_p.R138C	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	138	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTCCTGCTGCGCTTGGCGATG	0.502																																																	0			7											115.0	100.0	105.0					7																	38516554		2203	4300	6503	38483079	SO:0001583	missense	273				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.412C>T	7.37:g.38516554G>A	ENSP00000348602:p.Arg138Cys		38483079	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756726	0.69648	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.71222	-0.55;-0.55;-0.55	5.52	3.38	0.38709	BAR (3);	0.000000	0.85682	D	0.000000	D	0.85566	0.5726	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88450	0.3048	10	0.87932	D	0	-12.9834	12.8186	0.57679	0.0:0.0:0.5903:0.4096	.	138;138	P49418-2;P49418	.;AMPH_HUMAN	C	138	ENSP00000317441:R138C;ENSP00000348602:R138C;ENSP00000390734:R138C	ENSP00000317441:R138C	R	-	1	0	AMPH	38483079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.303000	0.33470	1.423000	0.47198	0.585000	0.79938	CGC		0.502	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
INHBA	3624	hgsc.bcm.edu	37	7	41729765	41729765	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:41729765A>C	ENST00000242208.4	-	3	1010	c.764T>G	c.(763-765)gTt>gGt	p.V255G	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.V255G	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	255					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCCAGGAGAACCAAGCTGGC	0.592										TSP Lung(11;0.080)																																							0			7											37.0	38.0	38.0					7																	41729765		2203	4300	6503	41696290	SO:0001583	missense	3624				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.764T>G	7.37:g.41729765A>C	ENSP00000242208:p.Val255Gly		41696290	Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	27.4	4.824437	0.90955	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.62498	0.02;0.02	6.06	6.06	0.98353	Transforming growth factor-beta, N-terminal (1);	0.295439	0.34133	N	0.004224	T	0.73410	0.3583	M	0.61703	1.905	0.80722	D	1	D	0.57571	0.98	P	0.62740	0.906	T	0.68538	-0.5382	10	0.14252	T	0.57	-24.5592	16.6093	0.84858	1.0:0.0:0.0:0.0	.	255	P08476	INHBA_HUMAN	G	255	ENSP00000242208:V255G;ENSP00000397197:V255G	ENSP00000242208:V255G	V	-	2	0	INHBA	41696290	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.364000	0.90105	2.324000	0.78689	0.533000	0.62120	GTT		0.592	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
IGFBP3	3486	hgsc.bcm.edu	37	7	45956872	45956872	+	Silent	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:45956872G>A	ENST00000275521.6	-	2	703	c.570C>T	c.(568-570)taC>taT	p.Y190Y	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Silent_p.Y196Y|IGFBP3_ENST00000381086.5_Silent_p.Y93Y	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	190					apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TCTGAGACTCGTAGTCAACTT	0.502											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			7											181.0	160.0	167.0					7																	45956872		2203	4300	6503	45923397	SO:0001819	synonymous_variant	3486				CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.570C>T	7.37:g.45956872G>A		935	45923397	A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Silent	SNP	ENST00000275521.6	37	CCDS5505.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.718|7.718	0.696573|0.696573	0.15106|0.15106	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000417621|ENST00000428530	.|.	.|.	.|.	5.29|5.29	-6.09|-6.09	0.02145|0.02145	.|.	.|.	.|.	.|.	.|.	.|T	.|0.34077	.|0.0885	.|.	.|.	.|.	0.22266|0.22266	N|N	0.999242|0.999242	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.38373	.|-0.9664	.|4	.|.	.|.	.|.	-31.9254|-31.9254	13.262|13.262	0.60111|0.60111	0.7501:0.0:0.2499:0.0|0.7501:0.0:0.2499:0.0	.|.	.|.	.|.	.|.	X|M	52|42	.|.	.|.	R|T	-|-	1|2	2|0	IGFBP3|IGFBP3	45923397|45923397	0.003000|0.003000	0.15002|0.15002	0.678000|0.678000	0.29963|0.29963	0.926000|0.926000	0.56050|0.56050	-1.417000|-1.417000	0.02464|0.02464	-1.084000|-1.084000	0.03092|0.03092	-0.940000|-0.940000	0.02684|0.02684	CGA|ACG		0.502	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398	
ABCA13	154664	hgsc.bcm.edu	37	7	48312293	48312293	+	Silent	SNP	A	A	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:48312293A>T	ENST00000435803.1	+	17	3054	c.3030A>T	c.(3028-3030)gcA>gcT	p.A1010A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1010					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGTAAAGCATTTGCATTTT	0.323																																																	0			7											24.0	23.0	23.0					7																	48312293		1804	4056	5860	48282839	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3030A>T	7.37:g.48312293A>T			48282839	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.323	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
EGFR	1956	hgsc.bcm.edu	37	7	55242488	55242488	+	Missense_Mutation	SNP	C	C	T	rs559717059|rs121913463|rs397517100|rs397517099|rs121913437		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:55242488C>T	ENST00000275493.2	+	19	2435	c.2258C>T	c.(2257-2259)cCg>cTg	p.P753L	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.P708L|EGFR_ENST00000454757.2_Missense_Mutation_p.P700L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	753	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		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.S752_I759del(13)|p.T751_I759>N(8)|p.L747_P753>Q(7)|p.T751_I759>S(3)|p.T751_I759del(2)|p.A750_E758>P(2)|p.L747_K754del(2)|p.E746_P753>IS(1)|p.L747_K754>ST(1)|p.L747_P753del(1)|p.A750_E758del(1)|p.T751_I759>REA(1)|p.A750_K754del(1)|p.T751_E758del(1)|p.L747_K754>N(1)|p.P753_I759del(1)|p.E746_P753>VQ(1)		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)	GCAACATCTCCGAAAGCCAAC	0.488	L747_P753>Q(HCC4006_LUNG)	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"""	47	Complex - deletion inframe(25)|Deletion - In frame(22)	lung(45)|breast(2)	7											104.0	99.0	101.0					7																	55242488		2203	4300	6503	55209982	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.2258C>T	7.37:g.55242488C>T	ENSP00000275493:p.Pro753Leu		55209982	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649807	0.67358	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82344	-1.6;-1.6;-1.6	5.45	5.45	0.79879	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84442	0.5473	L	0.31752	0.955	0.80722	D	1	D;D	0.65815	0.987;0.995	B;P	0.57679	0.115;0.825	D	0.85897	0.1432	10	0.59425	D	0.04	.	17.8402	0.88713	0.0:1.0:0.0:0.0	.	708;753	Q504U8;P00533	.;EGFR_HUMAN	L	708;623;753;700	ENSP00000415559:P708L;ENSP00000275493:P753L;ENSP00000395243:P700L	ENSP00000275493:P753L	P	+	2	0	EGFR	55209982	1.000000	0.71417	0.950000	0.38849	0.655000	0.38815	5.896000	0.69822	2.558000	0.86282	0.561000	0.74099	CCG		0.488	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
GTF2IRD1	9569	hgsc.bcm.edu	37	7	73944105	73944105	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:73944105C>T	ENST00000265755.3	+	9	1525	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R378W|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R410W|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R378W	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	378				R -> Q (in Ref. 5; AAF21796). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R378W(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGTGCCCTACCGGAAGATTGC	0.607																																																	1	Substitution - Missense(1)	ovary(1)	7											69.0	59.0	62.0					7																	73944105		2203	4300	6503	73582041	SO:0001583	missense	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.1132C>T	7.37:g.73944105C>T	ENSP00000265755:p.Arg378Trp		73582041	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	c	19.69	3.873889	0.72180	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.46	-2.05	0.07321	.	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	N	0.19112	0.55	0.52501	D	0.999952	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.993;0.957;0.996;0.974	T	0.52245	-0.8601	10	0.87932	D	0	-25.9307	17.2233	0.86963	0.259:0.7409:0.0:0.0	.	410;378;378;378	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	W	378;410;378;378	ENSP00000265755:R378W;ENSP00000397566:R410W;ENSP00000408477:R378W;ENSP00000418383:R378W	ENSP00000265755:R378W	R	+	1	2	GTF2IRD1	73582041	1.000000	0.71417	0.996000	0.52242	0.862000	0.49288	2.453000	0.44970	-0.142000	0.11354	-0.535000	0.04281	CGG		0.607	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328	
ATP5J2	9551	hgsc.bcm.edu	37	7	99057763	99057763	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:99057763A>G	ENST00000292475.3	-	2	274	c.85T>C	c.(85-87)Tgg>Cgg	p.W29R	PTCD1_ENST00000555673.1_Missense_Mutation_p.W23R|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000544611.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000488775.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000359832.4_Missense_Mutation_p.W29R|ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000449683.1_Missense_Mutation_p.W33R|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000394186.3_Missense_Mutation_p.W23R	NM_004889.3	NP_004880.1	P56134	ATPK_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2	29					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|nucleus (GO:0005634)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	transmembrane transporter activity (GO:0022857)			large_intestine(1)|ovary(1)	2	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATCAAGATCCAGCTTGGCAGC	0.473																																																	0			7											171.0	186.0	181.0					7																	99057763		2203	4300	6503	98895699	SO:0001583	missense	0			AF047436	CCDS5665.1, CCDS34692.1, CCDS47653.1, CCDS47654.1	7q22.1	2012-10-12	2010-06-11		ENSG00000241468	ENSG00000241468		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	848	protein-coding gene	gene with protein product	"""F1Fo-ATPase synthase f subunit"", ""ATP synthase f chain, mitochondrial"", ""F1Fo-ATP synthase complex Fo membrane domain f subunit"""		"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2"""			9653160	Standard	NM_004889		Approved	F1Fo-ATPase, ATP5JL		P56134	OTTHUMG00000154609	ENST00000292475.3:c.85T>C	7.37:g.99057763A>G	ENSP00000292475:p.Trp29Arg		98895699	C9J8H9|F8W7V3|O76079|Q6IBB3|Q96L83|Q9BTI8	Missense_Mutation	SNP	ENST00000292475.3	37	CCDS5665.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.577641	0.86645	.	.	ENSG00000106246;ENSG00000248919;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468	ENST00000555673;ENST00000413834;ENST00000449683;ENST00000359832;ENST00000292475;ENST00000544611;ENST00000488775;ENST00000394186	D;D;T;T	0.93366	-3.21;-3.21;2.74;2.74	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	M	0.62088	1.915	0.38185	D	0.939747	D;D;P;D;P	0.89917	1.0;1.0;0.928;0.958;0.91	D;D;P;D;P	0.91635	0.999;0.999;0.851;0.934;0.807	D	0.97011	0.9736	10	0.62326	D	0.03	.	14.5027	0.67732	1.0:0.0:0.0:0.0	.	23;29;23;29;23	G3V325;F8W7V3;C9J8H9;P56134;P56134-2	.;.;.;ATPK_HUMAN;.	R	23;23;33;29;29;23;23;23	ENSP00000450995:W23R;ENSP00000400168:W23R;ENSP00000407540:W33R;ENSP00000377740:W23R	ENSP00000292475:W29R	W	-	1	0	ATP5J2;ATP5J2-PTCD1;PTCD1	98895699	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.182000	0.89698	1.924000	0.55735	0.379000	0.24179	TGG		0.473	ATP5J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336263.1	NM_004889	
RINT1	60561	hgsc.bcm.edu	37	7	105207742	105207742	+	Missense_Mutation	SNP	C	C	T	rs199604799		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:105207742C>T	ENST00000257700.2	+	15	2594	c.2363C>T	c.(2362-2364)cCt>cTt	p.P788L	EFCAB10_ENST00000460135.1_3'UTR|EFCAB10_ENST00000485614.1_Intron|EFCAB10_ENST00000490493.1_5'UTR|EFCAB10_ENST00000480514.1_Intron|EFCAB10_ENST00000486180.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	788	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.P788L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACAAATTGGCCTAATACTGGA	0.353													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18357	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	central_nervous_system(1)	7											61.0	60.0	60.0					7																	105207742		2203	4300	6503	104994978	SO:0001583	missense	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.2363C>T	7.37:g.105207742C>T	ENSP00000257700:p.Pro788Leu		104994978	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	CCDS34726.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.12	3.032742	0.54790	.	.	ENSG00000135249	ENST00000257700	T	0.24723	1.84	5.98	5.98	0.97165	.	0.047434	0.85682	D	0.000000	T	0.26340	0.0643	L	0.43152	1.355	0.80722	D	1	P	0.36199	0.543	B	0.34873	0.191	T	0.01532	-1.1331	10	0.23891	T	0.37	-25.759	20.452	0.99131	0.0:1.0:0.0:0.0	.	788	Q6NUQ1	RINT1_HUMAN	L	788	ENSP00000257700:P788L	ENSP00000257700:P788L	P	+	2	0	RINT1	104994978	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.891000	0.63185	2.838000	0.97847	0.591000	0.81541	CCT		0.353	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930	
PPP1R3A	5506	hgsc.bcm.edu	37	7	113518303	113518303	+	Silent	SNP	C	C	T	rs150965727		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:113518303C>T	ENST00000284601.3	-	4	2912	c.2844G>A	c.(2842-2844)acG>acA	p.T948T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	948					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.T948T(3)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTGATTTCGTAGAAATAG	0.378																																																	3	Substitution - coding silent(3)	skin(3)	7						C		0,4406		0,0,2203	86.0	86.0	86.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2844	-8.2	0.0	7	dbSNP_134	86	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PPP1R3A	NM_002711.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		948/1123	113518303	1,13003	2203	4299	6502	113305539	SO:0001819	synonymous_variant	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2844G>A	7.37:g.113518303C>T			113305539	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	CCDS5759.1																																																																																				0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
CTTNBP2	83992	hgsc.bcm.edu	37	7	117375142	117375142	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:117375142G>A	ENST00000160373.3	-	16	3792	c.3701C>T	c.(3700-3702)tCc>tTc	p.S1234F		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1234					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATAACATTCGGACAGTCCATT	0.448																																																	0			7											48.0	52.0	50.0					7																	117375142		2203	4300	6503	117162378	SO:0001583	missense	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3701C>T	7.37:g.117375142G>A	ENSP00000160373:p.Ser1234Phe		117162378	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235701	0.22626	.	.	ENSG00000077063	ENST00000160373	T	0.53206	0.63	5.52	5.52	0.82312	.	0.439524	0.27008	N	0.021393	T	0.56426	0.1984	M	0.82630	2.6	0.22240	N	0.999265	B	0.11235	0.004	B	0.12156	0.007	T	0.50533	-0.8817	10	0.45353	T	0.12	4.5035	19.8125	0.96553	0.0:0.0:1.0:0.0	.	1234	Q8WZ74	CTTB2_HUMAN	F	1234	ENSP00000160373:S1234F	ENSP00000160373:S1234F	S	-	2	0	CTTNBP2	117162378	0.965000	0.33210	0.015000	0.15790	0.056000	0.15407	5.058000	0.64300	2.745000	0.94114	0.655000	0.94253	TCC		0.448	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
AKR1B1	231	hgsc.bcm.edu	37	7	134127504	134127504	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:134127504A>C	ENST00000285930.4	-	10	1006	c.927T>G	c.(925-927)gaT>gaG	p.D309E		NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	309					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	GGAAGGGGTAATCCTTGTGGG	0.438																																																	0			7											114.0	112.0	113.0					7																	134127504		2203	4300	6503	133778044	SO:0001583	missense	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.927T>G	7.37:g.134127504A>C	ENSP00000285930:p.Asp309Glu		133778044	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	A	8.326	0.825328	0.16749	.	.	ENSG00000085662	ENST00000285930	T	0.10960	2.82	4.97	1.27	0.21489	NADP-dependent oxidoreductase domain (2);	0.180017	0.64402	D	0.000018	T	0.05456	0.0144	L	0.32530	0.975	0.44745	D	0.997745	B	0.13145	0.007	B	0.14578	0.011	T	0.37709	-0.9694	10	0.10636	T	0.68	.	1.082	0.01644	0.4328:0.1498:0.272:0.1454	.	309	P15121	ALDR_HUMAN	E	309	ENSP00000285930:D309E	ENSP00000285930:D309E	D	-	3	2	AKR1B1	133778044	0.677000	0.27577	0.998000	0.56505	0.755000	0.42902	-0.320000	0.08028	0.042000	0.15717	0.459000	0.35465	GAT		0.438	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628	
SLC13A4	26266	hgsc.bcm.edu	37	7	135406185	135406185	+	Silent	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:135406185C>T	ENST00000354042.4	-	2	875	c.186G>A	c.(184-186)ccG>ccA	p.P62P		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	62					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						AAAGGAAGGCCGGCACCAGGG	0.617																																																	0			7											52.0	44.0	46.0					7																	135406185		2203	4300	6503	135056725	SO:0001819	synonymous_variant	26266			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.186G>A	7.37:g.135406185C>T			135056725	A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	CCDS5840.1																																																																																				0.617	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450	
ZC3HAV1	56829	hgsc.bcm.edu	37	7	138768735	138768735	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:138768735T>C	ENST00000242351.5	-	3	804	c.488A>G	c.(487-489)aAc>aGc	p.N163S	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.N163S|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.N163S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	163	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGGCTGCTGGTTACAAATCTG	0.488																																																	0			7											111.0	105.0	107.0					7																	138768735		2203	4300	6503	138419275	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.488A>G	7.37:g.138768735T>C	ENSP00000242351:p.Asn163Ser		138419275	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.827354	0.00584	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652	T;T;T	0.37235	1.21;1.21;1.21	4.5	-7.66	0.01277	.	1.249470	0.05360	N	0.533559	T	0.18841	0.0452	N	0.05280	-0.08	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.25779	-1.0122	10	0.23302	T	0.38	.	17.3856	0.87415	0.0:0.7664:0.0:0.2336	.	163;163	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	S	163	ENSP00000242351:N163S;ENSP00000418385:N163S;ENSP00000419855:N163S	ENSP00000242351:N163S	N	-	2	0	ZC3HAV1	138419275	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.470000	0.00991	-1.689000	0.01434	-1.064000	0.02280	AAC		0.488	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119	
TRPV6	55503	hgsc.bcm.edu	37	7	142575018	142575018	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:142575018G>C	ENST00000359396.3	-	4	609	c.364C>G	c.(364-366)Cac>Gac	p.H122D	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	122					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ACAGCGATGTGCAGTGCAGTC	0.622																																																	0			7											81.0	76.0	78.0					7																	142575018		2203	4300	6503	142285140	SO:0001583	missense	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.364C>G	7.37:g.142575018G>C	ENSP00000352358:p.His122Asp		142285140	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216006	0.79352	.	.	ENSG00000165125	ENST00000359396;ENST00000431833	T;T	0.71222	-0.55;0.08	3.86	3.86	0.44501	Ankyrin repeat-containing domain (4);	0.122556	0.64402	D	0.000008	D	0.83931	0.5361	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87000	0.2116	10	0.87932	D	0	-27.9378	14.9814	0.71313	0.0:0.0:1.0:0.0	.	122	Q9H1D0	TRPV6_HUMAN	D	122;49	ENSP00000352358:H122D;ENSP00000415917:H49D	ENSP00000352358:H122D	H	-	1	0	TRPV6	142285140	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.084000	0.94076	1.995000	0.58328	0.655000	0.94253	CAC		0.622	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
KRBA1	84626	hgsc.bcm.edu	37	7	149430494	149430494	+	Silent	SNP	C	C	T	rs200788949		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:149430494C>T	ENST00000485033.2	+	15	2268	c.2268C>T	c.(2266-2268)ctC>ctT	p.L756L	KRBA1_ENST00000319551.8_Silent_p.L756L|KRBA1_ENST00000255992.10_Silent_p.L816L|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	817	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGATCGGCTCGCCACAGCGC	0.692																																																	0			7						C		2,4046		0,2,2022	8.0	11.0	10.0		2450	-9.8	0.0	7		10	3,8277		0,3,4137	yes	coding-synonymous	KRBA1	NM_032534.2		0,5,6159	TT,TC,CC		0.0362,0.0494,0.0406		817/1031	149430494	5,12323	2024	4140	6164	149061427	SO:0001819	synonymous_variant	84626			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2268C>T	7.37:g.149430494C>T			149061427	A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37																																																																																					0.692	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534	
ABCB8	11194	hgsc.bcm.edu	37	7	150742298	150742298	+	Silent	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:150742298T>C	ENST00000297504.6	+	17	2136	c.2070T>C	c.(2068-2070)gcT>gcC	p.A690A	ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Silent_p.A648A|ABCB8_ENST00000358849.4_Silent_p.A673A|ABCB8_ENST00000542328.1_Silent_p.A585A			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	690	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		A -> G (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	TCTTCCAGGCTGGGACACATG	0.622																																																	0			7											74.0	70.0	72.0					7																	150742298		2203	4300	6503	150373231	SO:0001819	synonymous_variant	11194			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.2070T>C	7.37:g.150742298T>C			150373231	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Silent	SNP	ENST00000297504.6	37																																																																																					0.622	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188	
PCNA	5111	hgsc.bcm.edu	37	20	5099471	5099471	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	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		
SLC13A3	64849	hgsc.bcm.edu	37	20	45221075	45221075	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr20:45221075C>G	ENST00000279027.4	-	6	906	c.888G>C	c.(886-888)tgG>tgC	p.W296C	SLC13A3_ENST00000396360.1_Missense_Mutation_p.W249C|SLC13A3_ENST00000372121.1_Missense_Mutation_p.W246C|SLC13A3_ENST00000290317.5_Missense_Mutation_p.W249C|SLC13A3_ENST00000495082.1_Missense_Mutation_p.W249C|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000413164.2_Missense_Mutation_p.W246C|SLC13A3_ENST00000472148.1_Missense_Mutation_p.W249C	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	296					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGAAGGAGATCCAGAGCCAGC	0.502																																																	0			20											140.0	110.0	120.0					20																	45221075		2203	4300	6503	44654482	SO:0001583	missense	64849			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.888G>C	20.37:g.45221075C>G	ENSP00000279027:p.Trp296Cys		44654482	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	CCDS13400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.492508|4.492508	0.84962|0.84962	.|.	.|.	ENSG00000158296|ENSG00000158296	ENST00000450298|ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121	.|T;T;T;T;T;T;T;T;T	.|0.13538	.|4.06;4.06;4.06;4.06;3.36;4.06;4.06;2.59;2.58	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45677|0.45677	0.1354|0.1354	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	T|T	0.48387|0.48387	-0.9040|-0.9040	5|10	.|0.87932	.|D	.|0	-10.3168|-10.3168	19.8165|19.8165	0.96571|0.96571	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|246;249;249;296	.|B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.|.;.;.;S13A3_HUMAN	H|C	126|249;249;296;249;246;249;249;209;246	.|ENSP00000290317:W249C;ENSP00000379648:W249C;ENSP00000279027:W296C;ENSP00000420177:W249C;ENSP00000415852:W246C;ENSP00000419621:W249C;ENSP00000417784:W249C;ENSP00000395095:W209C;ENSP00000361193:W246C	.|ENSP00000279027:W296C	D|W	-|-	1|3	0|0	SLC13A3|SLC13A3	44654482|44654482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.304000|7.304000	0.78882|0.78882	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GAT|TGG		0.502	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2		
PREX1	57580	hgsc.bcm.edu	37	20	47248856	47248856	+	Silent	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr20:47248856C>T	ENST00000371941.3	-	35	4507	c.4485G>A	c.(4483-4485)gcG>gcA	p.A1495A	PREX1_ENST00000396220.1_Missense_Mutation_p.R1530H	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1495					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCAGGGACTGCGCGTTGATGT	0.642																																																	0			20											165.0	156.0	159.0					20																	47248856		2203	4300	6503	46682263	SO:0001819	synonymous_variant	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4485G>A	20.37:g.47248856C>T			46682263	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	5.076	0.199617	0.09652	.	.	ENSG00000124126	ENST00000396220	T	0.62788	-0.0	4.48	-8.96	0.00761	.	.	.	.	.	T	0.46521	0.1397	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.52830	-0.8523	6	0.62326	D	0.03	.	2.4818	0.04589	0.17:0.1077:0.3828:0.3395	.	.	.	.	H	1530	ENSP00000379522:R1530H	ENSP00000379522:R1530H	R	-	2	0	PREX1	46682263	0.000000	0.05858	0.310000	0.25168	0.008000	0.06430	-2.584000	0.00904	-1.014000	0.03379	0.449000	0.29647	CGC		0.642	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
SYCP2	10388	hgsc.bcm.edu	37	20	58441387	58441387	+	Silent	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr20:58441387T>C	ENST00000357552.3	-	41	4506	c.4281A>G	c.(4279-4281)aaA>aaG	p.K1427K	SYCP2_ENST00000371001.2_Silent_p.K1427K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1427					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)			ACTGTGAATCTTTTTCAAAAT	0.229																																																	0			20											30.0	35.0	34.0					20																	58441387		2119	4223	6342	57874782	SO:0001819	synonymous_variant	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.4281A>G	20.37:g.58441387T>C			57874782	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	CCDS13482.1																																																																																				0.229	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
PI4KA	5297	hgsc.bcm.edu	37	22	21119220	21119220	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr22:21119220G>A	ENST00000572273.1	-	22	2649	c.2419C>T	c.(2419-2421)Cgc>Tgc	p.R807C	PI4KA_ENST00000255882.6_Missense_Mutation_p.R865C|PI4KA_ENST00000466162.1_5'UTR			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	807					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATAGTGCTGCGGAGCTCACTC	0.582																																					GBM(136;1332 1831 3115 23601 50806)												0			22											72.0	67.0	69.0					22																	21119220		2203	4300	6503	19449220	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2419C>T	22.37:g.21119220G>A	ENSP00000458238:p.Arg807Cys		19449220	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.074038	0.76415	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.58	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79792	-0.1654	9	0.87932	D	0	-21.2708	13.2018	0.59772	0.0:0.0:0.5889:0.4111	.	807	P42356	PI4KA_HUMAN	C	807	.	ENSP00000255882:R807C	R	-	1	0	PI4KA	19449220	1.000000	0.71417	0.912000	0.35992	0.977000	0.68977	3.733000	0.55029	1.328000	0.45358	0.650000	0.86243	CGC		0.582	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
GNAZ	2781	hgsc.bcm.edu	37	22	23438030	23438030	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr22:23438030G>A	ENST00000248996.4	+	2	814	c.148G>A	c.(148-150)Gtc>Atc	p.V50I	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	50					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GAGCACCATCGTCAAACAGAT	0.592																																																	0			22											121.0	124.0	123.0					22																	23438030		2203	4300	6503	21768030	SO:0001583	missense	2781				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.148G>A	22.37:g.23438030G>A	ENSP00000248996:p.Val50Ile		21768030	B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543284	0.65198	.	.	ENSG00000128266	ENST00000248996	D	0.88586	-2.4	5.05	4.04	0.47022	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	D	0.83940	0.5363	L	0.39467	1.215	0.80722	D	1	B	0.12013	0.005	B	0.04013	0.001	T	0.80398	-0.1399	10	0.52906	T	0.07	.	12.8594	0.57906	0.0791:0.0:0.9209:0.0	.	50	P19086	GNAZ_HUMAN	I	50	ENSP00000248996:V50I	ENSP00000248996:V50I	V	+	1	0	GNAZ	21768030	1.000000	0.71417	0.857000	0.33713	0.863000	0.49368	9.597000	0.98273	1.272000	0.44329	-0.136000	0.14681	GTC		0.592	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073	
SMTN	6525	hgsc.bcm.edu	37	22	31500448	31500448	+	Missense_Mutation	SNP	T	T	A	rs554451508	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr22:31500448T>A	ENST00000347557.2	+	20	2968	c.2750T>A	c.(2749-2751)gTc>gAc	p.V917D	SMTN_ENST00000333137.7_3'UTR|SELM_ENST00000465536.1_5'Flank|SMTN_ENST00000404574.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.V940D	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	917					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GGCAAGAATGTCTAGCCTGCC	0.657																																																	0			22											83.0	68.0	73.0					22																	31500448		2203	4300	6503	29830448	SO:0001583	missense	6525			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2750T>A	22.37:g.31500448T>A	ENSP00000328635:p.Val917Asp		29830448	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.147276	0.77888	.	.	ENSG00000183963	ENST00000358743;ENST00000347557	T;T	0.70516	-0.1;-0.49	5.03	5.03	0.67393	.	1.684130	0.03833	N	0.269406	T	0.73329	0.3573	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61940	0.896;0.896	T	0.64045	-0.6499	10	0.87932	D	0	.	15.07	0.72026	0.0:0.0:0.0:1.0	.	940;917	E7EWD0;P53814	.;SMTN_HUMAN	D	940;917	ENSP00000351593:V940D;ENSP00000328635:V917D	ENSP00000328635:V917D	V	+	2	0	SMTN	29830448	0.982000	0.34865	0.998000	0.56505	0.862000	0.49288	1.992000	0.40737	2.043000	0.60533	0.448000	0.29417	GTC		0.657	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270	
ENTHD1	150350	hgsc.bcm.edu	37	22	40257832	40257832	+	Missense_Mutation	SNP	G	G	A	rs148548476		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr22:40257832G>A	ENST00000325157.6	-	3	780	c.530C>T	c.(529-531)cCg>cTg	p.P177L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	177										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGAAATATCCGGTGTGGGGGC	0.413																																																	0			22						G	LEU/PRO	0,4406		0,0,2203	68.0	71.0	70.0		530	5.2	0.3	22	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ENTHD1	NM_152512.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	177/608	40257832	1,13005	2203	4300	6503	38587778	SO:0001583	missense	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.530C>T	22.37:g.40257832G>A	ENSP00000317431:p.Pro177Leu		38587778	B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285004	0.23392	0.0	1.16E-4	ENSG00000176177	ENST00000325157	T	0.49720	0.77	6.17	5.15	0.70609	.	0.246918	0.34268	N	0.004109	T	0.44808	0.1311	M	0.64997	1.995	0.30145	N	0.803601	P	0.46277	0.875	B	0.41619	0.361	T	0.49051	-0.8979	10	0.19590	T	0.45	-6.6644	12.8417	0.57806	0.0:0.0:0.8368:0.1632	.	177	Q8IYW4	ENTD1_HUMAN	L	177	ENSP00000317431:P177L	ENSP00000317431:P177L	P	-	2	0	ENTHD1	38587778	0.997000	0.39634	0.318000	0.25279	0.097000	0.18754	3.396000	0.52565	1.590000	0.49995	0.655000	0.94253	CCG		0.413	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512	
PKDREJ	10343	hgsc.bcm.edu	37	22	46656620	46656620	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	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	
SYT16	83851	hgsc.bcm.edu	37	14	62541873	62541873	+	Silent	SNP	C	C	A	rs372127808		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr14:62541873C>A	ENST00000430451.2	+	3	954	c.757C>A	c.(757-759)Cgg>Agg	p.R253R	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Silent_p.R253R	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	253					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGCCAGCCAACGGCGTTATTC	0.428																																																	0			14											32.0	30.0	31.0					14																	62541873		1898	4126	6024	61611626	SO:0001819	synonymous_variant	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.757C>A	14.37:g.62541873C>A			61611626	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	CCDS45121.1																																																																																				0.428	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
KCNH5	27133	hgsc.bcm.edu	37	14	63416947	63416947	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr14:63416947A>C	ENST00000322893.7	-	7	1541	c.1273T>G	c.(1273-1275)Ttt>Gtt	p.F425V	KCNH5_ENST00000394964.2_Missense_Mutation_p.F367V|KCNH5_ENST00000420622.2_Missense_Mutation_p.F425V|KCNH5_ENST00000394968.1_Missense_Mutation_p.F367V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	425					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTCATGGTAAAGTAGAGAGAG	0.468																																																	0			14											126.0	113.0	117.0					14																	63416947		2203	4300	6503	62486700	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1273T>G	14.37:g.63416947A>C	ENSP00000321427:p.Phe425Val		62486700	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.727885	0.89390	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86	5.75	5.75	0.90469	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	M	0.92459	3.31	0.80722	D	1	P;D;D;D	0.89917	0.795;0.995;0.998;1.0	P;D;D;D	0.87578	0.714;0.944;0.976;0.998	D	0.99274	1.0894	10	0.87932	D	0	.	16.0707	0.80928	1.0:0.0:0.0:0.0	.	367;367;425;425	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	V	425;425;367;367	ENSP00000321427:F425V;ENSP00000395439:F425V;ENSP00000378419:F367V;ENSP00000378415:F367V	ENSP00000321427:F425V	F	-	1	0	KCNH5	62486700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.194000	0.70268	0.533000	0.62120	TTT		0.468	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
SERPINA12	145264	hgsc.bcm.edu	37	14	94964311	94964311	+	Nonsense_Mutation	SNP	G	G	A	rs17090972	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr14:94964311G>A	ENST00000341228.2	-	3	1219	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	SERPINA12_ENST00000556881.1_Nonsense_Mutation_p.Q142*	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	142			Q -> K (in dbSNP:rs17090972).		negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TGCAGCCTCTGGTCAATGAAC	0.463																																																	0			14											130.0	127.0	128.0					14																	94964311		2203	4300	6503	94034064	SO:0001587	stop_gained	145264			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.424C>T	14.37:g.94964311G>A	ENSP00000342109:p.Gln142*		94034064		Nonsense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328464	0.81690	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	.	.	.	5.49	-2.03	0.07365	.	1.613040	0.03265	N	0.183779	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	9.7051	0.40211	0.0:0.4599:0.1795:0.3606	.	.	.	.	X	142	.	ENSP00000342109:Q142X	Q	-	1	0	SERPINA12	94034064	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.521000	0.06245	-0.013000	0.14199	-0.169000	0.13324	CAG		0.463	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850	
SERPINA4	5267	hgsc.bcm.edu	37	14	95034606	95034606	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr14:95034606A>C	ENST00000557004.1	+	4	1485	c.1064A>C	c.(1063-1065)cAa>cCa	p.Q355P	SERPINA4_ENST00000298841.5_Missense_Mutation_p.Q355P|SERPINA4_ENST00000555095.1_Missense_Mutation_p.Q355P|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	355					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACCAAACAGCAAAAACTGGAG	0.527																																																	0			14											69.0	67.0	67.0					14																	95034606		2203	4300	6503	94104359	SO:0001583	missense	5267			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1064A>C	14.37:g.95034606A>C	ENSP00000450838:p.Gln355Pro		94104359	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	A	3.669	-0.067970	0.07228	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84442	-1.85;-1.85;-1.85	5.3	-10.6	0.00265	Serpin domain (3);	7.423570	0.00357	N	0.000032	T	0.63698	0.2533	N	0.04959	-0.14	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.0;0.002	T	0.58741	-0.7583	10	0.29301	T	0.29	.	3.8786	0.09068	0.5276:0.1504:0.2511:0.0709	.	355;355	B2R815;P29622	.;KAIN_HUMAN	P	355	ENSP00000450838:Q355P;ENSP00000451172:Q355P;ENSP00000298841:Q355P	ENSP00000298841:Q355P	Q	+	2	0	SERPINA4	94104359	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.443000	0.00469	-4.747000	0.00033	-1.136000	0.01936	CAA		0.527	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215	
MBD3	53615	hgsc.bcm.edu	37	19	1592612	1592612	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr19:1592612C>T	ENST00000434436.3	-	1	148	c.19G>A	c.(19-21)Gag>Aag	p.E7K	UQCR11_ENST00000585937.1_Intron|MBD3_ENST00000592012.1_Intron|MBD3_ENST00000156825.1_Missense_Mutation_p.E7K|MBD3_ENST00000585967.1_5'Flank	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	7	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGGCACTCCCACCTCTTC	0.731																																																	0			19											18.0	19.0	19.0					19																	1592612		2199	4289	6488	1543612	SO:0001583	missense	64180			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.19G>A	19.37:g.1592612C>T	ENSP00000412302:p.Glu7Lys		1543612	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	37	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072705	0.76415	.	.	ENSG00000071655	ENST00000156825	D	0.99376	-5.79	3.03	3.03	0.35002	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.565508	0.15032	U	0.284409	D	0.97964	0.9330	L	0.54323	1.7	0.50813	D	0.999891	B	0.27594	0.182	B	0.31614	0.133	D	0.99236	1.0883	10	0.56958	D	0.05	-18.8749	11.492	0.50387	0.0:1.0:0.0:0.0	.	7	O95983	MBD3_HUMAN	K	7	ENSP00000156825:E7K	ENSP00000156825:E7K	E	-	1	0	MBD3	1543612	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	3.207000	0.51106	1.540000	0.49301	0.174000	0.16983	GAG		0.731	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926	
ZNF57	126295	hgsc.bcm.edu	37	19	2917848	2917848	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr19:2917848A>G	ENST00000306908.5	+	4	1377	c.1229A>G	c.(1228-1230)cAt>cGt	p.H410R	ZNF57_ENST00000523428.1_Missense_Mutation_p.H378R|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCCGAGGTCATTTGAGGACG	0.428																																					NSCLC(150;910 1964 4303 10464 26498)												0			19											99.0	89.0	92.0					19																	2917848		2203	4300	6503	2868848	SO:0001583	missense	126295			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1229A>G	19.37:g.2917848A>G	ENSP00000303696:p.His410Arg		2868848	Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.104587	0.37145	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	D;D	0.86865	-2.18;-2.18	2.25	2.25	0.28309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94843	0.8334	H	0.97051	3.93	0.29290	N	0.869403	D	0.89917	1.0	D	0.85130	0.997	D	0.88137	0.2842	9	0.87932	D	0	.	8.0503	0.30575	1.0:0.0:0.0:0.0	.	410	Q68EA5	ZNF57_HUMAN	R	410;412;378	ENSP00000303696:H410R;ENSP00000430223:H378R	ENSP00000303696:H410R	H	+	2	0	ZNF57	2868848	0.999000	0.42202	0.005000	0.12908	0.032000	0.12392	7.535000	0.82014	1.038000	0.40049	0.418000	0.28097	CAT		0.428	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480	
ZNF224	7767	hgsc.bcm.edu	37	19	44611669	44611669	+	Silent	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr19:44611669A>G	ENST00000336976.6	+	6	1610	c.1356A>G	c.(1354-1356)ggA>ggG	p.G452G	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	452					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TCCATACAGGAGAGAAACTGT	0.448																																																	0			19											76.0	80.0	78.0					19																	44611669		2203	4300	6503	49303509	SO:0001819	synonymous_variant	7767			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1356A>G	19.37:g.44611669A>G			49303509	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Silent	SNP	ENST00000336976.6	37	CCDS33046.1																																																																																				0.448	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398	
ZNF112	7771	hgsc.bcm.edu	37	19	44831846	44831846	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr19:44831846T>C	ENST00000337401.4	-	5	2570	c.2482A>G	c.(2482-2484)Aca>Gca	p.T828A	ZNF112_ENST00000354340.4_Missense_Mutation_p.T822A|ZNF112_ENST00000536500.1_Missense_Mutation_p.T845A	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	828					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTCTCTCCTGTGTGGACTCTG	0.463																																																	0			19											149.0	147.0	148.0					19																	44831846		2203	4300	6503	49523686	SO:0001583	missense	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2482A>G	19.37:g.44831846T>C	ENSP00000337081:p.Thr828Ala		49523686	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435825	0.62955	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.26518	1.73;1.73;1.73	5.07	5.07	0.68467	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003477	T	0.38799	0.1054	L	0.47078	1.49	0.33245	D	0.55771	P;P;P	0.50528	0.936;0.921;0.936	P;P;P	0.56788	0.806;0.766;0.806	T	0.53627	-0.8412	10	0.59425	D	0.04	-17.8056	14.0978	0.65034	0.0:0.0:0.0:1.0	.	827;845;828	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	A	828;828;822;845;827	ENSP00000337081:T828A;ENSP00000346305:T822A;ENSP00000441990:T845A	ENSP00000253426:T827A	T	-	1	0	ZNF285	49523686	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.097000	0.30988	2.039000	0.60335	0.460000	0.39030	ACA		0.463	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380	
LILRB1	10859	hgsc.bcm.edu	37	19	55144696	55144696	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr19:55144696G>T	ENST00000396331.1	+	8	1545	c.1188G>T	c.(1186-1188)agG>agT	p.R396S	LILRB1_ENST00000462628.1_Splice_Site|LILRB1_ENST00000396332.4_Missense_Mutation_p.R396S|LILRB1_ENST00000434867.2_Missense_Mutation_p.R396S|LILRB1_ENST00000427581.2_Missense_Mutation_p.R432S|LILRB1_ENST00000396321.2_Missense_Mutation_p.R396S|LILRB1_ENST00000396317.1_Missense_Mutation_p.R396S|LILRB1_ENST00000324602.7_Missense_Mutation_p.R396S|LILRB1_ENST00000418536.2_Missense_Mutation_p.R396S|LILRB1_ENST00000448689.1_Missense_Mutation_p.R396S|LILRB1_ENST00000396327.3_Missense_Mutation_p.R396S|LILRB1_ENST00000396315.1_Missense_Mutation_p.R396S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	396	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGACCTACAGGTGCTACGGCT	0.582										HNSCC(37;0.09)																																							0			19											108.0	115.0	113.0					19																	55144696		2203	4300	6503	59836508	SO:0001583	missense	10859			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1188G>T	19.37:g.55144696G>T	ENSP00000379622:p.Arg396Ser		59836508	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	g	0.139	-1.104357	0.01828	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.02552	4.25;4.25;4.25;4.25;4.25;4.25;4.25;4.25;4.25;4.25;4.25	2.25	-1.44	0.08856	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.723385	0.11365	N	0.571494	T	0.11024	0.0269	M	0.82716	2.605	0.09310	N	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.955;1.0;0.997;0.997;1.0	T	0.16778	-1.0391	10	0.87932	D	0	.	2.1256	0.03738	0.3249:0.0:0.4228:0.2524	.	396;396;396;396;396	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	S	396;396;396;396;396;396;396;396;432;396;396	ENSP00000379614:R396S;ENSP00000391514:R396S;ENSP00000409968:R396S;ENSP00000379622:R396S;ENSP00000379618:R396S;ENSP00000315997:R396S;ENSP00000405243:R396S;ENSP00000379623:R396S;ENSP00000395004:R432S;ENSP00000379610:R396S;ENSP00000379608:R396S	ENSP00000315997:R396S	R	+	3	2	LILRB1	59836508	1.000000	0.71417	0.030000	0.17652	0.004000	0.04260	0.482000	0.22276	-0.068000	0.12953	-2.527000	0.00183	AGG		0.582	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
MYOM2	9172	hgsc.bcm.edu	37	8	2091341	2091341	+	Silent	SNP	C	C	T	rs2280908	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr8:2091341C>T	ENST00000262113.4	+	36	4182	c.4041C>T	c.(4039-4041)atC>atT	p.I1347I	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Silent_p.I772I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1347	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCAGGTTGATCGGCGGCTTGC	0.597													T|||	56	0.0111821	0.0	0.0245	5008	,	,		16697	0.0357		0.003	False		,,,				2504	0.0																0			8						T		3,4403	825.9+/-416.6	0,3,2200	120.0	87.0	98.0		4041	-6.5	0.0	8	dbSNP_100	98	2,8598	819.2+/-406.8	0,2,4298	no	coding-synonymous	MYOM2	NM_003970.2		0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384		1347/1466	2091341	5,13001	2203	4300	6503	2078748	SO:0001819	synonymous_variant	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4041C>T	8.37:g.2091341C>T			2078748	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																				0.597	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
CSMD1	64478	hgsc.bcm.edu	37	8	3245155	3245155	+	Silent	SNP	G	G	A	rs370427726		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr8:3245155G>A	ENST00000520002.1	-	19	3201	c.2646C>T	c.(2644-2646)aaC>aaT	p.N882N	CSMD1_ENST00000539096.1_Silent_p.N881N|CSMD1_ENST00000537824.1_Silent_p.N881N|CSMD1_ENST00000602723.1_Silent_p.N882N|CSMD1_ENST00000400186.3_Silent_p.N882N|CSMD1_ENST00000542608.1_Silent_p.N881N|CSMD1_ENST00000602557.1_Silent_p.N882N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	882	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCGATGGCCGTTCACAGGGA	0.562																																																	0			8						G		0,4230		0,0,2115	36.0	43.0	41.0		2643	-9.7	0.1	8		41	1,8445		0,1,4222	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6337	AA,AG,GG		0.0118,0.0,0.0079		881/3565	3245155	1,12675	2115	4223	6338	3232562	SO:0001819	synonymous_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2646C>T	8.37:g.3245155G>A			3232562	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	7.732	0.699443	0.15106	0.0	1.18E-4	ENSG00000183117	ENST00000335551	.	.	.	5.11	-9.68	0.00528	.	.	.	.	.	T	0.58864	0.2152	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69412	-0.5152	4	.	.	.	.	14.5795	0.68278	0.5168:0.0:0.4832:0.0	.	.	.	.	W	362	.	.	R	-	1	2	CSMD1	3232562	0.997000	0.39634	0.064000	0.19789	0.657000	0.38888	0.675000	0.25232	-2.273000	0.00681	-0.781000	0.03364	CGG		0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
MYBL1	4603	hgsc.bcm.edu	37	8	67511374	67511374	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr8:67511374G>A	ENST00000522677.3	-	4	612	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	MYBL1_ENST00000517885.1_Missense_Mutation_p.R68C|MYBL1_ENST00000524176.2_Missense_Mutation_p.R68C	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	68	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AAATCAGAGCGATTCTGAAAA	0.368																																																	0			8											42.0	39.0	40.0					8																	67511374		1849	4128	5977	67673928	SO:0001583	missense	4603			X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.202C>T	8.37:g.67511374G>A	ENSP00000429633:p.Arg68Cys		67673928	E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185098	0.78677	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.44482	2.08;0.92;1.62	5.54	5.54	0.83059	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.80491	0.4633	H	0.98996	4.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	D	0.88507	0.3086	10	0.87932	D	0	-9.6936	19.4831	0.95018	0.0:0.0:1.0:0.0	.	68;68;68	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	C	68	ENSP00000429633:R68C;ENSP00000428265:R68C;ENSP00000428011:R68C	ENSP00000428265:R68C	R	-	1	0	MYBL1	67673928	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.314000	0.51943	2.606000	0.88127	0.650000	0.86243	CGC		0.368	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274	
KCNB2	9312	hgsc.bcm.edu	37	8	73848485	73848485	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr8:73848485G>A	ENST00000523207.1	+	3	1483	c.895G>A	c.(895-897)Gtg>Atg	p.V299M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	299					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CGTGAGGCGCGTGGTCCAGAT	0.522																																																	0			8											88.0	85.0	86.0					8																	73848485		2203	4300	6503	74011039	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.895G>A	8.37:g.73848485G>A	ENSP00000430846:p.Val299Met		74011039	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296524	0.95574	.	.	ENSG00000182674	ENST00000523207	D	0.98807	-5.15	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.41097	D	0.000947	D	0.98969	0.9649	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99906	1.1180	10	0.87932	D	0	.	19.91	0.97023	0.0:0.0:1.0:0.0	.	299	Q92953	KCNB2_HUMAN	M	299	ENSP00000430846:V299M	ENSP00000430846:V299M	V	+	1	0	KCNB2	74011039	1.000000	0.71417	0.959000	0.39883	0.987000	0.75469	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	GTG		0.522	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
RALYL	138046	hgsc.bcm.edu	37	8	85717027	85717027	+	Silent	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr8:85717027C>T	ENST00000521268.1	+	4	1460	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	RALYL_ENST00000517638.1_Silent_p.L132L|RALYL_ENST00000518566.1_Intron|RALYL_ENST00000521376.1_Silent_p.L46L|RALYL_ENST00000523850.1_Silent_p.L46L|RALYL_ENST00000521695.1_Silent_p.L119L|RALYL_ENST00000522455.1_Silent_p.L119L	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	119							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GGAACCTTTCCTGTCTGTTGG	0.244																																																	0			8											9.0	8.0	9.0					8																	85717027		872	1963	2835	85879582	SO:0001819	synonymous_variant	138046				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.355C>T	8.37:g.85717027C>T			85879582	B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	CCDS55253.1																																																																																				0.244	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1		
MMP16	4325	hgsc.bcm.edu	37	8	89053801	89053801	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr8:89053801C>T	ENST00000286614.6	-	10	1993	c.1712G>A	c.(1711-1713)tGc>tAc	p.C571Y		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	571					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGCCAAGATGCAGGGAATGAC	0.458																																																	0			8											290.0	227.0	249.0					8																	89053801		2203	4300	6503	89122917	SO:0001583	missense	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1712G>A	8.37:g.89053801C>T	ENSP00000286614:p.Cys571Tyr		89122917	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369521	0.82463	.	.	ENSG00000156103	ENST00000286614	T	0.36157	1.27	5.62	5.62	0.85841	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	M	0.68593	2.085	0.80722	D	1	D	0.60575	0.988	D	0.66196	0.942	T	0.59915	-0.7364	10	0.59425	D	0.04	.	19.6577	0.95849	0.0:1.0:0.0:0.0	.	571	P51512	MMP16_HUMAN	Y	571	ENSP00000286614:C571Y	ENSP00000286614:C571Y	C	-	2	0	MMP16	89122917	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.638000	0.89438	0.591000	0.81541	TGC		0.458	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941	
NBN	4683	hgsc.bcm.edu	37	8	90976653	90976653	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr8:90976653C>A	ENST00000265433.3	-	8	1133	c.979G>T	c.(979-981)Ggc>Tgc	p.G327C	NBN_ENST00000409330.1_Missense_Mutation_p.G245C	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	327	Interaction with MTOR, MAPKAP1 and RICTOR.|Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTGGGATGGCCCTGAGGATCA	0.343								Homologous recombination																																									0			8											112.0	110.0	111.0					8																	90976653		2203	4300	6503	91045829	SO:0001583	missense	9048			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.979G>T	8.37:g.90976653C>A	ENSP00000265433:p.Gly327Cys		91045829	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.272615	0.23221	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387	T;T	0.58358	0.34;0.34	5.12	3.27	0.37495	.	0.899561	0.09902	N	0.740933	T	0.46870	0.1415	L	0.51422	1.61	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.17098	0.017;0.017	T	0.42413	-0.9453	10	0.59425	D	0.04	7.0E-4	8.0504	0.30575	0.0:0.747:0.1646:0.0884	.	327;327	A6H8Y5;O60934	.;NBN_HUMAN	C	327;245;327	ENSP00000265433:G327C;ENSP00000386924:G245C	ENSP00000265433:G327C	G	-	1	0	NBN	91045829	0.012000	0.17670	0.700000	0.30305	0.619000	0.37552	1.334000	0.33827	1.436000	0.47453	0.643000	0.83706	GGC		0.343	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688	
ZHX1	11244	hgsc.bcm.edu	37	8	124267210	124267210	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr8:124267210T>C	ENST00000522655.1	-	3	1517	c.977A>G	c.(976-978)gAa>gGa	p.E326G	ZHX1_ENST00000395571.3_Missense_Mutation_p.E326G|ZHX1_ENST00000297857.2_Missense_Mutation_p.E326G|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	326	Required for dimerization.|Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTGATCTGTTCCTCTGTATA	0.393																																																	0			8											207.0	205.0	205.0					8																	124267210		2203	4300	6503	124336391	SO:0001583	missense	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.977A>G	8.37:g.124267210T>C	ENSP00000428821:p.Glu326Gly		124336391	Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.99|16.99	3.273340|3.273340	0.59649|0.59649	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	D;D;D|.	0.96365|.	-3.99;-3.99;-3.99|.	5.8|5.8	4.63|4.63	0.57726|0.57726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63721|0.63721	0.2535|0.2535	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999995|0.999995	D|.	0.61080|.	0.989|.	P|.	0.59221|.	0.854|.	T|T	0.61073|0.61073	-0.7136|-0.7136	9|4	0.87932|.	D|.	0|.	-7.5121|-7.5121	12.2546|12.2546	0.54617|0.54617	0.1275:0.0:0.0:0.8725|0.1275:0.0:0.0:0.8725	.|.	326|.	Q9UKY1|.	ZHX1_HUMAN|.	G|D	326|11	ENSP00000297857:E326G;ENSP00000378938:E326G;ENSP00000428821:E326G|.	ENSP00000297857:E326G|.	E|N	-|-	2|1	0|0	ZHX1|ZHX1	124336391|124336391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.136000|6.136000	0.71703|0.71703	0.997000|0.997000	0.38969|0.38969	0.454000|0.454000	0.30748|0.30748	GAA|AAC		0.393	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1		
FAM91A1	157769	hgsc.bcm.edu	37	8	124818328	124818328	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr8:124818328C>T	ENST00000334705.7	+	20	2137	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C	FAM91A1_ENST00000521166.1_Missense_Mutation_p.R631C	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	631										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AGAGTTCACTCGTGTCAATAT	0.383																																																	0			8											125.0	110.0	115.0					8																	124818328		1898	4141	6039	124887509	SO:0001583	missense	157769			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1891C>T	8.37:g.124818328C>T	ENSP00000335082:p.Arg631Cys		124887509	B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215463	0.39102	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.31769	1.48;1.48	5.65	5.65	0.86999	.	0.212494	0.51477	D	0.000085	T	0.28034	0.0691	N	0.22421	0.69	0.46798	D	0.999209	D;D	0.60160	0.987;0.987	B;P	0.47705	0.431;0.555	T	0.01375	-1.1371	10	0.39692	T	0.17	.	14.5508	0.68065	0.1463:0.8537:0.0:0.0	.	631;631	E7ER68;Q658Y4	.;F91A1_HUMAN	C	631	ENSP00000429491:R631C;ENSP00000335082:R631C	ENSP00000335082:R631C	R	+	1	0	FAM91A1	124887509	1.000000	0.71417	0.987000	0.45799	0.164000	0.22412	4.330000	0.59266	2.667000	0.90743	0.655000	0.94253	CGT		0.383	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963	
MROH5	389690	hgsc.bcm.edu	37	8	142505557	142505557	+	RNA	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr8:142505557T>C	ENST00000430863.1	-	0	369					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GCACTGTTCATGTCCTGCAGC	0.532																																																	0			8											121.0	120.0	120.0					8																	142505557		2157	4262	6419	142574739			389690					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142505557T>C			142574739		Missense_Mutation	SNP	ENST00000430863.1	37		.	.	.	.	.	.	.	.	.	.	T	2.896	-0.228657	0.06022	.	.	ENSG00000226807	ENST00000521161	.	.	.	4.47	1.32	0.21799	.	.	.	.	.	T	0.21718	0.0523	N	0.14661	0.345	.	.	.	B	0.09022	0.002	B	0.06405	0.002	T	0.19614	-1.0300	7	0.66056	D	0.02	.	2.0537	0.03576	0.1278:0.1429:0.4716:0.2578	.	97	Q6ZUA9	.	V	62	.	ENSP00000431031:M97V	M	-	1	0	AC100803.1	142574739	0.106000	0.21978	0.896000	0.35187	0.040000	0.13550	0.212000	0.17497	0.324000	0.23333	0.379000	0.24179	ATG		0.532	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414	
DRAXIN	374946	hgsc.bcm.edu	37	1	11766487	11766487	+	Missense_Mutation	SNP	C	C	T	rs533314493		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:11766487C>T	ENST00000294485.5	+	2	307	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		CAGCCACCACCGCCGGCGGGG	0.731													C|||	1	0.000199681	0.0	0.0	5008	,	,		13661	0.0		0.0	False		,,,				2504	0.001																0			1											11.0	14.0	13.0					1																	11766487		2178	4269	6447	11689074	SO:0001583	missense	374946			AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.172C>T	1.37:g.11766487C>T	ENSP00000294485:p.Arg58Cys		11689074		Missense_Mutation	SNP	ENST00000294485.5	37	CCDS135.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348810	0.41599	.	.	ENSG00000162490	ENST00000294485	T	0.49720	0.77	4.75	2.73	0.32206	.	0.685000	0.13322	N	0.396596	T	0.52224	0.1721	M	0.62723	1.935	0.38910	D	0.957501	D	0.60160	0.987	P	0.50896	0.653	T	0.56992	-0.7887	10	0.72032	D	0.01	-14.9831	8.7219	0.34445	0.1651:0.6635:0.1714:0.0	.	58	Q8NBI3	DRAXI_HUMAN	C	58	ENSP00000294485:R58C	ENSP00000294485:R58C	R	+	1	0	C1orf187	11689074	0.419000	0.25449	0.999000	0.59377	0.080000	0.17528	1.006000	0.29847	0.942000	0.37525	0.313000	0.20887	CGC		0.731	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545	
CELA3B	23436	hgsc.bcm.edu	37	1	22313136	22313136	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:22313136T>C	ENST00000337107.6	+	7	774	c.755T>C	c.(754-756)gTg>gCg	p.V252A	RN7SL386P_ENST00000485776.2_RNA|CELA3B_ENST00000473526.1_3'UTR|RNU6-1022P_ENST00000365049.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	252	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						AAGCCCACGGTGTTCACTCGA	0.617																																																	0			1											64.0	56.0	59.0					1																	22313136		2203	4300	6503	22185723	SO:0001583	missense	23436			M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.755T>C	1.37:g.22313136T>C	ENSP00000338369:p.Val252Ala		22185723	B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	ENST00000337107.6	37	CCDS219.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.908528	0.52333	.	.	ENSG00000219073	ENST00000337107;ENST00000400277	D;D	0.91407	-2.84;-2.84	4.05	4.05	0.47172	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	D	0.94761	0.8309	M	0.82716	2.605	0.51482	D	0.999928	D	0.76494	0.999	D	0.76575	0.988	D	0.95057	0.8192	10	0.87932	D	0	-23.3612	11.3087	0.49351	0.0:0.0:0.0:1.0	.	252	P08861	CEL3B_HUMAN	A	252;155	ENSP00000338369:V252A;ENSP00000383135:V155A	ENSP00000338369:V252A	V	+	2	0	CELA3B	22185723	1.000000	0.71417	0.986000	0.45419	0.090000	0.18270	7.579000	0.82511	1.838000	0.53458	0.409000	0.27619	GTG		0.617	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352	
WASF2	10163	hgsc.bcm.edu	37	1	27744828	27744828	+	Silent	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:27744828A>G	ENST00000430629.2	-	4	576	c.361T>C	c.(361-363)Tta>Cta	p.L121L	WASF2_ENST00000536657.1_Silent_p.L121L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	121					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TATGTTTCTAAGACAGGCACT	0.453																																																	0			1											119.0	120.0	120.0					1																	27744828		2203	4297	6500	27617415	SO:0001819	synonymous_variant	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.361T>C	1.37:g.27744828A>G			27617415	B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	CCDS304.1																																																																																				0.453	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990	
PTPRF	5792	hgsc.bcm.edu	37	1	44070989	44070989	+	Silent	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:44070989G>A	ENST00000359947.4	+	18	3604	c.3264G>A	c.(3262-3264)caG>caA	p.Q1088Q	PTPRF_ENST00000438120.1_Silent_p.Q1079Q|PTPRF_ENST00000372413.3_Silent_p.Q1079Q|PTPRF_ENST00000422171.2_Silent_p.Q436Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.Q1088Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1088	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGGGCCTGCAGCACCTGGTGT	0.642																																																	0			1											57.0	60.0	59.0					1																	44070989		2203	4300	6503	43843576	SO:0001819	synonymous_variant	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3264G>A	1.37:g.44070989G>A			43843576	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.975|8.975	0.973913|0.973913	0.18736|0.18736	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.31|5.31	4.4|4.4	0.53042|0.53042	.|.	.|.	.|.	.|.	.|.	T|T	0.70020|0.70020	0.3176|0.3176	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.69495|0.69495	-0.5130|-0.5130	4|4	.|.	.|.	.|.	.|.	14.3391|14.3391	0.66614|0.66614	0.0718:0.0:0.9282:0.0|0.0718:0.0:0.9282:0.0	.|.	.|.	.|.	.|.	T|N	461;502|734	.|.	.|.	A|S	+|+	1|2	0|0	PTPRF|PTPRF	43843576|43843576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.884000|0.884000	0.51177|0.51177	6.788000|6.788000	0.75105|0.75105	1.402000|1.402000	0.46780|0.46780	0.591000|0.591000	0.81541|0.81541	GCA|AGC		0.642	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
MKNK1	8569	hgsc.bcm.edu	37	1	47030721	47030721	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:47030721T>C	ENST00000371946.4	-	10	923	c.760A>G	c.(760-762)Acc>Gcc	p.T254A	MKNK1_ENST00000428112.2_Missense_Mutation_p.T213A|MKNK1_ENST00000371945.4_Missense_Mutation_p.T213A|MKNK1_ENST00000341183.5_Missense_Mutation_p.T213A|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Missense_Mutation_p.T118A	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T254S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					ACTGGGGTGGTCAGCTCTGGT	0.493																																																	1	Substitution - Missense(1)	lung(1)	1											230.0	210.0	216.0					1																	47030721		2203	4300	6503	46803308	SO:0001583	missense	8569			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.760A>G	1.37:g.47030721T>C	ENSP00000361014:p.Thr254Ala		46803308	D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Missense_Mutation	SNP	ENST00000371946.4	37	CCDS538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.18|12.18	1.859920|1.859920	0.32884|0.32884	.|.	.|.	ENSG00000079277|ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000371944;ENST00000341183;ENST00000428112|ENST00000524749	T;T;T;T;T|.	0.66995|.	-0.24;-0.24;-0.24;-0.24;-0.24|.	5.8|5.8	4.61|4.61	0.57282|0.57282	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.40546|.	0.1121|.	N|N	0.13003|0.13003	0.285|0.285	0.80722|0.80722	D|D	1|1	B;B;B;B;B;P|.	0.42161|.	0.004;0.025;0.009;0.008;0.336;0.772|.	B;B;B;B;B;P|.	0.52343|.	0.017;0.03;0.017;0.01;0.431;0.696|.	T|.	0.24621|.	-1.0155|.	10|.	0.10902|.	T|.	0.67|.	-17.4372|-17.4372	11.9732|11.9732	0.53075|0.53075	0.0:0.0:0.1446:0.8554|0.0:0.0:0.1446:0.8554	.|.	118;118;213;213;213;254|.	B4DQK5;Q7Z319;A8K341;Q9BUB5-3;Q9BUB5-2;Q9BUB5|.	.;.;.;.;.;MKNK1_HUMAN|.	A|W	254;213;118;213;213|5	ENSP00000361014:T254A;ENSP00000361013:T213A;ENSP00000361012:T118A;ENSP00000339573:T213A;ENSP00000411135:T213A|.	ENSP00000339573:T213A|.	T|X	-|-	1|3	0|0	MKNK1|MKNK1	46803308|46803308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.716000|0.716000	0.41182|0.41182	4.091000|4.091000	0.57700|0.57700	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	ACC|TGA		0.493	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684	
ZFYVE9	9372	hgsc.bcm.edu	37	1	52704525	52704525	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:52704525A>G	ENST00000371591.1	+	3	1567	c.1436A>G	c.(1435-1437)gAt>gGt	p.D479G	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.D479G|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D479G	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	479					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AATGGTTGTGATTCCTATGGA	0.368																																																	0			1											94.0	100.0	98.0					1																	52704525		2203	4299	6502	52477113	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1436A>G	1.37:g.52704525A>G	ENSP00000360647:p.Asp479Gly		52477113	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.095149	0.56075	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.70516	-0.06;-0.49;0.22;0.22	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000012	T	0.76183	0.3952	L	0.27053	0.805	0.45690	D	0.998601	D;D;D	0.71674	0.998;0.997;0.989	D;D;P	0.81914	0.995;0.989;0.783	T	0.79009	-0.1978	10	0.62326	D	0.03	.	15.9487	0.79813	1.0:0.0:0.0:0.0	.	479;479;479	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	G	479	ENSP00000349737:D479G;ENSP00000355358:D479G;ENSP00000287727:D479G;ENSP00000360647:D479G	ENSP00000287727:D479G	D	+	2	0	ZFYVE9	52477113	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.527000	0.67123	2.173000	0.68751	0.533000	0.62120	GAT		0.368	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	
ORC1	4998	hgsc.bcm.edu	37	1	52850337	52850337	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:52850337A>G	ENST00000371568.3	-	11	1858	c.1640T>C	c.(1639-1641)gTg>gCg	p.V547A	ORC1_ENST00000371566.1_Missense_Mutation_p.V547A	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	547	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCAGCGTATCACTTCATGAAC	0.547																																																	0			1											97.0	77.0	84.0					1																	52850337		2203	4300	6503	52622925	SO:0001583	missense	10166				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1640T>C	1.37:g.52850337A>G	ENSP00000360623:p.Val547Ala		52622925	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258348	0.80246	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	D;D	0.95035	-3.59;-3.59	5.81	5.81	0.92471	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.053822	0.85682	D	0.000000	D	0.97052	0.9037	M	0.79475	2.455	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73380	0.98;0.98	D	0.97634	1.0144	10	0.87932	D	0	-19.4153	16.158	0.81680	1.0:0.0:0.0:0.0	.	542;547	B7Z8H0;Q13415	.;ORC1_HUMAN	A	547	ENSP00000360623:V547A;ENSP00000360621:V547A	ENSP00000360621:V547A	V	-	2	0	ORC1	52622925	1.000000	0.71417	0.990000	0.47175	0.550000	0.35303	8.523000	0.90576	2.206000	0.71126	0.533000	0.62120	GTG		0.547	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153	
PRKAA2	5563	hgsc.bcm.edu	37	1	57173294	57173294	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:57173294A>G	ENST00000371244.4	+	9	1633	c.1567A>G	c.(1567-1569)Agc>Ggc	p.S523G		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	523			S -> G (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.S523G(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TTTGACCGGAAGCACATTGTC	0.473																																																	2	Substitution - Missense(2)	breast(2)	1											176.0	158.0	164.0					1																	57173294		2203	4300	6503	56945882	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.1567A>G	1.37:g.57173294A>G	ENSP00000360290:p.Ser523Gly		56945882	Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	CCDS605.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.861126	0.51482	.	.	ENSG00000162409	ENST00000371244	T	0.72835	-0.69	5.46	5.46	0.80206	.	0.105227	0.64402	D	0.000009	T	0.66458	0.2791	L	0.50333	1.59	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.62253	-0.6893	10	0.39692	T	0.17	-12.4265	15.7119	0.77635	1.0:0.0:0.0:0.0	.	523	P54646	AAPK2_HUMAN	G	523	ENSP00000360290:S523G	ENSP00000360290:S523G	S	+	1	0	PRKAA2	56945882	1.000000	0.71417	0.972000	0.41901	0.636000	0.38137	8.761000	0.91691	2.291000	0.77112	0.533000	0.62120	AGC		0.473	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	
GTF2B	2959	hgsc.bcm.edu	37	1	89325690	89325690	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:89325690C>T	ENST00000370500.5	-	5	528	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	137					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		ATTATTTGTTCGATCCTTCAA	0.338																																																	0			1											133.0	135.0	134.0					1																	89325690		2203	4300	6503	89098278	SO:0001583	missense	2959			M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"""General transcription factors"""	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.410G>A	1.37:g.89325690C>T	ENSP00000359531:p.Arg137Gln		89098278	A8K1A7|Q5JS30	Missense_Mutation	SNP	ENST00000370500.5	37	CCDS715.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003996	0.74932	.	.	ENSG00000137947	ENST00000370500;ENST00000448623;ENST00000418217	T;T;T	0.47869	0.86;0.83;0.86	5.49	4.59	0.56863	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	L	0.56769	1.78	0.80722	D	1	P	0.48350	0.909	B	0.33295	0.161	T	0.09465	-1.0673	10	0.15499	T	0.54	15.9647	14.5673	0.68185	0.0:0.9295:0.0:0.0705	.	137	Q00403	TF2B_HUMAN	Q	137;136;132	ENSP00000359531:R137Q;ENSP00000415741:R136Q;ENSP00000402345:R132Q	ENSP00000359531:R137Q	R	-	2	0	GTF2B	89098278	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.442000	0.80503	1.442000	0.47568	0.591000	0.81541	CGA		0.338	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514	
COL11A1	1301	hgsc.bcm.edu	37	1	103388942	103388942	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:103388942G>T	ENST00000370096.3	-	47	3916	c.3604C>A	c.(3604-3606)Ctg>Atg	p.L1202M	COL11A1_ENST00000512756.1_Missense_Mutation_p.L1086M|COL11A1_ENST00000358392.2_Missense_Mutation_p.L1214M|COL11A1_ENST00000353414.4_Missense_Mutation_p.L1163M	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1202	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGCCTGGCAGACCCTAAGAA	0.328																																																	0			1											40.0	38.0	39.0					1																	103388942		2202	4300	6502	103161530	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3604C>A	1.37:g.103388942G>T	ENSP00000359114:p.Leu1202Met		103161530	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845859	0.32606	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	5.15	3.26	0.37387	.	0.000000	0.64402	D	0.000006	D	0.92378	0.7581	L	0.35644	1.08	0.54753	D	0.999982	D;D;D;D;D	0.76494	0.995;0.998;0.999;0.998;0.997	D;D;D;D;D	0.85130	0.979;0.997;0.997;0.994;0.986	D	0.90207	0.4261	10	0.32370	T	0.25	.	9.3932	0.38386	0.2395:0.0:0.7605:0.0	.	1086;1163;1214;1202;422	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	M	1202;1214;1163;422;1086	ENSP00000359114:L1202M;ENSP00000351163:L1214M;ENSP00000302551:L1163M;ENSP00000426533:L1086M	ENSP00000302551:L1163M	L	-	1	2	COL11A1	103161530	0.980000	0.34600	0.998000	0.56505	0.916000	0.54674	1.508000	0.35769	0.546000	0.28920	0.460000	0.39030	CTG		0.328	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
AHCYL1	10768	hgsc.bcm.edu	37	1	110527681	110527681	+	Missense_Mutation	SNP	A	A	C	rs538673946		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:110527681A>C	ENST00000369799.5	+	1	374	c.7A>C	c.(7-9)Atg>Ctg	p.M3L	AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	3					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		gGGAATGTCGATGCCTGACGC	0.736													A|||	1	0.000199681	0.0	0.0014	5008	,	,		9838	0.0		0.0	False		,,,				2504	0.0																0			1											13.0	13.0	13.0					1																	110527681		2160	4272	6432	110329204	SO:0001583	missense	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.7A>C	1.37:g.110527681A>C	ENSP00000358814:p.Met3Leu		110329204	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	A	8.873	0.949654	0.18431	.	.	ENSG00000168710	ENST00000369799	T	0.74632	-0.86	4.96	2.25	0.28309	.	0.440186	0.23217	N	0.050605	T	0.26593	0.0650	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.07366	-1.0776	10	0.23891	T	0.37	-12.6886	6.2953	0.21083	0.7049:0.0:0.2951:0.0	.	3	O43865	SAHH2_HUMAN	L	3	ENSP00000358814:M3L	ENSP00000358814:M3L	M	+	1	0	AHCYL1	110329204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.301000	0.33447	0.722000	0.32252	0.533000	0.62120	ATG		0.736	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1		
TNR	7143	hgsc.bcm.edu	37	1	175355223	175355223	+	Silent	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:175355223G>A	ENST00000367674.2	-	8	2430	c.1722C>T	c.(1720-1722)gtC>gtT	p.V574V	TNR_ENST00000263525.2_Silent_p.V574V			Q92752	TENR_HUMAN	tenascin R	574	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGACGGCACTGACTGACACCT	0.642																																																	0			1											85.0	78.0	80.0					1																	175355223		2203	4300	6503	173621846	SO:0001819	synonymous_variant	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1722C>T	1.37:g.175355223G>A			173621846	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.642	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
PAPPA2	60676	hgsc.bcm.edu	37	1	176564383	176564383	+	Missense_Mutation	SNP	G	G	A	rs555801320		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:176564383G>A	ENST00000367662.3	+	3	2807	c.1643G>A	c.(1642-1644)cGt>cAt	p.R548H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R548H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	548	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGCAGATTCGTCTGCAGCAC	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		20994	0.001		0.0	False		,,,				2504	0.0																0			1											66.0	68.0	67.0					1																	176564383		2147	4247	6394	174831006	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1643G>A	1.37:g.176564383G>A	ENSP00000356634:p.Arg548His		174831006	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	5.186	0.219816	0.09863	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.42131	0.98;0.98	5.11	-4.39	0.03611	.	2.209890	0.01334	N	0.011321	T	0.25531	0.0621	L	0.38531	1.155	0.09310	N	1	B;D	0.53619	0.015;0.961	B;B	0.35240	0.007;0.198	T	0.41106	-0.9527	10	0.41790	T	0.15	1.5103	4.4333	0.11538	0.3447:0.1306:0.441:0.0837	.	548;548	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	H	548	ENSP00000356634:R548H;ENSP00000356633:R548H	ENSP00000356633:R548H	R	+	2	0	PAPPA2	174831006	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.552000	0.06020	-0.714000	0.04975	-0.259000	0.10710	CGT		0.572	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
CACNA1E	777	hgsc.bcm.edu	37	1	181764027	181764027	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:181764027C>T	ENST00000367573.2	+	46	6055	c.6055C>T	c.(6055-6057)Cgt>Tgt	p.R2019C	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2000C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1957C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1908C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1976C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1583C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1970C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2019					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						CTCCATGAGACGTTCATTTTC	0.468																																																	0			1											78.0	74.0	75.0					1																	181764027		1910	4137	6047	180030650	SO:0001583	missense	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.6055C>T	1.37:g.181764027C>T	ENSP00000356545:p.Arg2019Cys		180030650	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211492	0.95069	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99259	-5.22;-5.2;-5.64;-5.19;-5.37;-5.63;-5.64	5.91	5.91	0.95273	.	0.411995	0.25848	N	0.027919	D	0.99177	0.9715	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.99920	1.1248	10	0.87932	D	0	.	19.8936	0.96942	0.0:1.0:0.0:0.0	.	1957;1976	Q15878-2;Q15878-3	.;.	C	1976;1957;1970;1908;1583;2000;2019	ENSP00000356542:R1976C;ENSP00000434814:R1957C;ENSP00000350183:R1970C;ENSP00000351101:R1908C;ENSP00000356539:R1583C;ENSP00000353222:R2000C;ENSP00000356545:R2019C	ENSP00000350183:R1970C	R	+	1	0	CACNA1E	180030650	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.145000	0.64839	2.793000	0.96121	0.655000	0.94253	CGT		0.468	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
HMCN1	83872	hgsc.bcm.edu	37	1	185984511	185984511	+	Silent	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:185984511G>A	ENST00000271588.4	+	31	5080	c.4851G>A	c.(4849-4851)acG>acA	p.T1617T	HMCN1_ENST00000367492.2_Silent_p.T1617T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1617	Ig-like C2-type 13.				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						CAACATATACGTGTCATGTAG	0.398																																																	0			1											102.0	101.0	102.0					1																	185984511		2203	4299	6502	184251134	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.4851G>A	1.37:g.185984511G>A			184251134	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	
CFHR3	10878	hgsc.bcm.edu	37	1	196757505	196757505	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:196757505G>C	ENST00000367425.4	+	4	682	c.590G>C	c.(589-591)tGg>tCg	p.W197S	CFHR3_ENST00000391985.3_Intron|CFHR3_ENST00000471440.2_Missense_Mutation_p.W197S	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	197	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						CAAAATGGATGGTCAGCACAA	0.303																																																	0			1											70.0	89.0	83.0					1																	196757505		1980	4164	6144	195024128	SO:0001583	missense	10878			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.590G>C	1.37:g.196757505G>C	ENSP00000356395:p.Trp197Ser		195024128	B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376062	0.42105	.	.	ENSG00000116785	ENST00000367425;ENST00000471440	D;D	0.88431	-2.38;-2.38	2.94	2.94	0.34122	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.95698	0.8601	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95471	0.8551	9	0.87932	D	0	.	9.7198	0.40295	0.0:0.0:1.0:0.0	.	197;197	Q02985;Q6NSD3	FHR3_HUMAN;.	S	197	ENSP00000356395:W197S;ENSP00000436258:W197S	ENSP00000356395:W197S	W	+	2	0	CFHR3	195024128	1.000000	0.71417	0.835000	0.33067	0.057000	0.15508	3.582000	0.53921	1.386000	0.46466	0.392000	0.25879	TGG		0.303	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023	
CAPN2	824	hgsc.bcm.edu	37	1	223940648	223940648	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:223940648G>T	ENST00000295006.5	+	9	1434	c.1125G>T	c.(1123-1125)agG>agT	p.R375S	CAPN2_ENST00000433674.2_Missense_Mutation_p.R297S	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	375	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GAGGTTGCAGGAACTACCCGA	0.582																																																	0			1											84.0	94.0	90.0					1																	223940648		2203	4300	6503	222007271	SO:0001583	missense	824			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1125G>T	1.37:g.223940648G>T	ENSP00000295006:p.Arg375Ser		222007271	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042287	0.75732	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.88664	-2.41;-2.41	5.3	4.38	0.52667	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.93756	0.8004	M	0.83953	2.67	0.80722	D	1	P;D	0.67145	0.748;0.996	P;D	0.78314	0.786;0.991	D	0.93592	0.6922	10	0.62326	D	0.03	.	11.1248	0.48310	0.1423:0.0:0.8577:0.0	.	297;375	B7ZA96;P17655	.;CAN2_HUMAN	S	297;375;404	ENSP00000413158:R297S;ENSP00000295006:R375S	ENSP00000295006:R375S	R	+	3	2	CAPN2	222007271	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	0.752000	0.26362	2.640000	0.89533	0.561000	0.74099	AGG		0.582	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748	
ZNF124	7678	hgsc.bcm.edu	37	1	247320093	247320093	+	Silent	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:247320093A>G	ENST00000543802.2	-	4	920	c.831T>C	c.(829-831)ctT>ctC	p.L277L	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491848.1_5'Flank|ZNF124_ENST00000340684.6_Silent_p.L215L			Q15973	ZN124_HUMAN	zinc finger protein 124	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CGTGTTTCTGAAGGGAACTGG	0.438																																																	0			1											145.0	135.0	139.0					1																	247320093		2203	4300	6503	245386716	SO:0001819	synonymous_variant	7678			S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.831T>C	1.37:g.247320093A>G			245386716	B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Silent	SNP	ENST00000543802.2	37																																																																																					0.438	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431	
SBF2	81846	hgsc.bcm.edu	37	11	9983537	9983537	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:9983537G>C	ENST00000256190.8	-	16	1964	c.1827C>G	c.(1825-1827)gaC>gaG	p.D609E		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	609					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTATTATGTAGTCAAACTGTT	0.358																																																	0			11											140.0	120.0	126.0					11																	9983537		2201	4294	6495	9940113	SO:0001583	missense	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1827C>G	11.37:g.9983537G>C	ENSP00000256190:p.Asp609Glu		9940113	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.44|15.44	2.834833|2.834833	0.50951|0.50951	.|.	.|.	ENSG00000133812|ENSG00000133812	ENST00000256190|ENST00000420722	T|.	0.65178|.	-0.14|.	5.56|5.56	3.68|3.68	0.42216|0.42216	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65626|0.65626	0.2709|0.2709	M|M	0.70275|0.70275	2.135|2.135	0.52099|0.52099	D|D	0.999944|0.999944	D;P|.	0.89917|.	1.0;0.938|.	D;P|.	0.91635|.	0.999;0.874|.	T|T	0.65261|0.65261	-0.6211|-0.6211	10|5	0.31617|.	T|.	0.26|.	.|.	10.6448|10.6448	0.45613|0.45613	0.2075:0.0:0.7925:0.0|0.2075:0.0:0.7925:0.0	.|.	609;609|.	Q86WG5-3;Q86WG5|.	.;MTMRD_HUMAN|.	E|V	609|216	ENSP00000256190:D609E|.	ENSP00000256190:D609E|.	D|L	-|-	3|1	2|2	SBF2|SBF2	9940113|9940113	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.903000|1.903000	0.39858|0.39858	1.338000|1.338000	0.45544|0.45544	0.557000|0.557000	0.71058|0.71058	GAC|CTA		0.358	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	
OR4C4P	79550	hgsc.bcm.edu	37	11	48373929	48373929	+	IGR	SNP	A	A	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:48373929A>C								OR4C3 (26422 upstream) : OR4C5 (13107 downstream)																							TAAAAACATAACAAACAAGAA	0.408																																																	0			11											296.0	237.0	255.0					11																	48373929		692	1591	2283	48330505	SO:0001628	intergenic_variant	403257																															11.37:g.48373929A>C			48330505		Missense_Mutation	SNP		37																																																																																				0	0.408								
FOLH1	2346	hgsc.bcm.edu	37	11	49221878	49221878	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:49221878C>A	ENST00000256999.2	-	3	600	c.340G>T	c.(340-342)Gat>Tat	p.D114Y	FOLH1_ENST00000340334.7_Missense_Mutation_p.D99Y|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.D99Y|FOLH1_ENST00000356696.3_Missense_Mutation_p.D114Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	114					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AACAGGACATCATAATGTGCT	0.343																																																	0			11											68.0	67.0	68.0					11																	49221878		2199	4298	6497	49178454	SO:0001583	missense	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.340G>T	11.37:g.49221878C>A	ENSP00000256999:p.Asp114Tyr		49178454	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849409	0.71603	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724;ENST00000529117	T;T;T;T;T	0.41065	1.08;1.11;1.01;1.03;1.04	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000031	T	0.67221	0.2870	M	0.83483	2.645	0.80722	D	1	D;D;D;D;B	0.89917	1.0;1.0;0.963;0.999;0.379	D;D;P;D;B	0.87578	0.994;0.998;0.519;0.972;0.111	T	0.72811	-0.4180	10	0.87932	D	0	.	15.3664	0.74526	0.0:1.0:0.0:0.0	.	99;99;99;114;114	Q04609-9;Q04609-7;A4UU13;Q04609-8;Q04609	.;.;.;.;FOLH1_HUMAN	Y	114;114;99;99;114;57	ENSP00000256999:D114Y;ENSP00000349129:D114Y;ENSP00000344131:D99Y;ENSP00000431463:D99Y;ENSP00000431577:D57Y	ENSP00000256999:D114Y	D	-	1	0	FOLH1	49178454	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	5.176000	0.65026	2.501000	0.84356	0.514000	0.50259	GAT		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	
OR4C12	283093	hgsc.bcm.edu	37	11	50003839	50003839	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:50003839T>C	ENST00000335238.4	-	1	232	c.199A>G	c.(199-201)Ata>Gta	p.I67V		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ACTGTGTCTATCAAAGAAAGG	0.438																																																	0			11											63.0	66.0	65.0					11																	50003839		2201	4296	6497	49960415	SO:0001583	missense	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.199A>G	11.37:g.50003839T>C	ENSP00000334418:p.Ile67Val		49960415	B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	11.08	1.534626	0.27475	.	.	ENSG00000221954	ENST00000335238	T	0.03035	4.07	3.31	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	U	0.000240	T	0.02418	0.0074	N	0.13140	0.3	0.24800	N	0.992708	B	0.22346	0.068	B	0.27608	0.081	T	0.47262	-0.9131	10	0.10377	T	0.69	.	10.0552	0.42241	0.0:0.0:0.0:1.0	.	67	Q96R67	OR4CC_HUMAN	V	67	ENSP00000334418:I67V	ENSP00000334418:I67V	I	-	1	0	OR4C12	49960415	0.000000	0.05858	0.420000	0.26596	0.982000	0.71751	-0.202000	0.09451	1.528000	0.49103	0.325000	0.21440	ATA		0.438	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270	
OR4S2	219431	hgsc.bcm.edu	37	11	55418785	55418785	+	Missense_Mutation	SNP	C	C	T	rs148733636		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:55418785C>T	ENST00000312422.2	+	1	406	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R136W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CATCATGAACCGGGAGACATG	0.433																																																	1	Substitution - Missense(1)	ovary(1)	11						C	TRP/ARG	1,4363		0,1,2181	197.0	166.0	177.0		406	-1.1	0.0	11	dbSNP_134	177	1,8077		0,1,4038	no	missense	OR4S2	NM_001004059.2	101	0,2,6219	TT,TC,CC		0.0124,0.0229,0.0161	benign	136/312	55418785	2,12440	2182	4039	6221	55175361	SO:0001583	missense	219431			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.406C>T	11.37:g.55418785C>T	ENSP00000310337:p.Arg136Trp		55175361	Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	4.357	0.065803	0.08388	2.29E-4	1.24E-4	ENSG00000174982	ENST00000312422	T	0.00949	5.51	5.09	-1.09	0.09904	GPCR, rhodopsin-like superfamily (1);	0.270733	0.25205	N	0.032358	T	0.00998	0.0033	L	0.50333	1.59	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.44757	-0.9307	10	0.44086	T	0.13	.	5.7679	0.18237	0.5214:0.3235:0.0:0.1551	.	136	Q8NH73	OR4S2_HUMAN	W	136	ENSP00000310337:R136W	ENSP00000310337:R136W	R	+	1	2	OR4S2	55175361	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	-2.203000	0.01234	0.129000	0.18514	0.542000	0.68232	CGG		0.433	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059	
MS4A2	2206	hgsc.bcm.edu	37	11	59860307	59860307	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:59860307A>T	ENST00000278888.3	+	4	466	c.364A>T	c.(364-366)Aat>Tat	p.N122Y		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	122					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGAAAGGAGAAATGCAACATA	0.348																																																	0			11											129.0	121.0	124.0					11																	59860307		2201	4295	6496	59616883	SO:0001583	missense	2206			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.364A>T	11.37:g.59860307A>T	ENSP00000278888:p.Asn122Tyr		59616883	Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.928428	0.00054	.	.	ENSG00000149534	ENST00000278888	T	0.02280	4.36	4.28	0.675	0.17952	.	1.319970	0.04632	N	0.403856	T	0.05777	0.0151	L	0.54323	1.7	0.09310	N	1	P;P	0.50943	0.94;0.94	P;P	0.51742	0.678;0.678	T	0.48364	-0.9042	10	0.15499	T	0.54	3.0E-4	10.4883	0.44735	0.7741:0.2259:0.0:0.0	.	52;122	Q14298;Q01362	.;FCERB_HUMAN	Y	122	ENSP00000278888:N122Y	ENSP00000278888:N122Y	N	+	1	0	MS4A2	59616883	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.137000	0.15995	0.110000	0.17919	0.528000	0.53228	AAT		0.348	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1		
CST6	1474	hgsc.bcm.edu	37	11	65780325	65780325	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:65780325C>T	ENST00000312134.2	+	2	473	c.269C>T	c.(268-270)aCg>aTg	p.T90M		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	90					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						TACTTCCTGACGATGGAGATG	0.602																																																	0			11											80.0	66.0	71.0					11																	65780325		2201	4296	6497	65536901	SO:0001583	missense	1476			U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.269C>T	11.37:g.65780325C>T	ENSP00000311313:p.Thr90Met		65536901	Q540N7	Missense_Mutation	SNP	ENST00000312134.2	37	CCDS8126.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016692	0.35606	.	.	ENSG00000175315	ENST00000312134	T	0.28069	1.63	5.66	2.77	0.32553	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.124523	0.52532	D	0.000071	T	0.44052	0.1275	M	0.68952	2.095	0.24104	N	0.995863	D	0.76494	0.999	D	0.63703	0.917	T	0.23583	-1.0184	10	0.46703	T	0.11	-17.3569	5.4001	0.16291	0.1613:0.6795:0.0:0.1592	.	90	Q15828	CYTM_HUMAN	M	90	ENSP00000311313:T90M	ENSP00000311313:T90M	T	+	2	0	CST6	65536901	0.591000	0.26824	0.190000	0.23270	0.220000	0.24768	0.865000	0.27940	0.327000	0.23409	0.563000	0.77884	ACG		0.602	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323	
NPAT	4863	hgsc.bcm.edu	37	11	108044481	108044481	+	Silent	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:108044481T>C	ENST00000278612.8	-	13	1335	c.1230A>G	c.(1228-1230)caA>caG	p.Q410Q	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	410					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CCTGGTCTTCTTGTCTAAGCA	0.403																																																	0			11											134.0	122.0	125.0					11																	108044481		1856	4099	5955	107549691	SO:0001819	synonymous_variant	4863			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1230A>G	11.37:g.108044481T>C			107549691	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	CCDS41710.1																																																																																				0.403	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519	
ATM	472	hgsc.bcm.edu	37	11	108170479	108170479	+	Missense_Mutation	SNP	G	G	A	rs121434217		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:108170479G>A	ENST00000452508.2	+	35	5233	c.5044G>A	c.(5044-5046)Gat>Aat	p.D1682N	ATM_ENST00000278616.4_Missense_Mutation_p.D1682N			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1682			D -> H (in T-prolymphocytic leukemia). {ECO:0000269|PubMed:9288106}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.D1682Y(2)|p.D1682H(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGGTCCTATAGATTTCTCTAC	0.358			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	11											132.0	139.0	136.0					11																	108170479		2201	4298	6499	107675689	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5044G>A	11.37:g.108170479G>A	ENSP00000388058:p.Asp1682Asn		107675689	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.499135	0.85069	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.72505	-0.66;-0.66	5.2	4.28	0.50868	Armadillo-type fold (1);	0.044055	0.85682	N	0.000000	T	0.81791	0.4897	M	0.74258	2.255	0.41759	D	0.9897	D	0.89917	1.0	D	0.79108	0.992	T	0.82973	-0.0191	10	0.62326	D	0.03	.	10.8473	0.46751	0.1519:0.0:0.8481:0.0	.	1682	Q13315	ATM_HUMAN	N	1682	ENSP00000278616:D1682N;ENSP00000388058:D1682N	ENSP00000278616:D1682N	D	+	1	0	ATM	107675689	1.000000	0.71417	0.993000	0.49108	0.952000	0.60782	2.926000	0.48892	1.180000	0.42898	0.650000	0.86243	GAT		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
HYOU1	10525	hgsc.bcm.edu	37	11	118919562	118919562	+	Missense_Mutation	SNP	C	C	T	rs147081612	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:118919562C>T	ENST00000404233.3	-	18	2153	c.2029G>A	c.(2029-2031)Gtc>Atc	p.V677I	HYOU1_ENST00000525859.1_Missense_Mutation_p.V615I|HYOU1_ENST00000529972.1_Missense_Mutation_p.V615I|HYOU1_ENST00000543287.1_3'UTR	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	677					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GCTGGAGCGACGCCCTCAGGC	0.607													c|||	2	0.000399361	0.0	0.0	5008	,	,		17397	0.0		0.002	False		,,,				2504	0.0																0			11						T	ILE/VAL,ILE/VAL	1,4399	2.1+/-5.4	0,1,2199	62.0	63.0	63.0		2029,2029	-0.5	0.0	11	dbSNP_134	63	6,8584	5.0+/-18.6	0,6,4289	yes	missense,missense	HYOU1	NM_001130991.1,NM_006389.3	29,29	0,7,6488	TT,TC,CC		0.0698,0.0227,0.0539	benign,benign	677/1000,677/1000	118919562	7,12983	2200	4295	6495	118424772	SO:0001583	missense	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2029G>A	11.37:g.118919562C>T	ENSP00000384144:p.Val677Ile		118424772	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	c	7.653	0.683284	0.14907	2.27E-4	6.98E-4	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01335	5.0;5.0;5.0	5.23	-0.465	0.12157	.	2.272770	0.01749	N	0.029839	T	0.01454	0.0047	N	0.16790	0.44	0.09310	N	1	B;B;B;B	0.12013	0.005;0.001;0.005;0.005	B;B;B;B	0.08055	0.002;0.001;0.003;0.003	T	0.47686	-0.9098	10	0.36615	T	0.2	0.222	9.614	0.39681	0.0:0.5373:0.0:0.4626	.	668;659;677;677	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	I	677;668;615;526;615;658	ENSP00000384144:V677I;ENSP00000437313:V615I;ENSP00000433397:V615I	ENSP00000278752:V668I	V	-	1	0	HYOU1	118424772	0.000000	0.05858	0.001000	0.08648	0.296000	0.27459	0.006000	0.13152	0.065000	0.16485	-1.193000	0.01689	GTC		0.607	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389	
TNF	7124	hgsc.bcm.edu	37	6	31545064	31545064	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr6:31545064T>C	ENST00000449264.2	+	4	627	c.452T>C	c.(451-453)cTc>cCc	p.L151P		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	151					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	ACCCATGTGCTCCTCACCCAC	0.617									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0			6											144.0	100.0	116.0					6																	31545064		1511	2709	4220	31653043	SO:0001583	missense	7124	Familial Cancer Database	incl.: Familial Head and Neck Cancer	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.452T>C	6.37:g.31545064T>C	ENSP00000398698:p.Leu151Pro		31653043	O43647|Q9P1Q2|Q9UIV3	Missense_Mutation	SNP	ENST00000449264.2	37	CCDS4702.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404968	0.42613	.	.	ENSG00000232810	ENST00000449264	D	0.93763	-3.28	5.4	5.4	0.78164	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.428589	0.26411	N	0.024521	D	0.91865	0.7425	L	0.46567	1.45	0.58432	D	0.999999	D	0.62365	0.991	D	0.63192	0.912	D	0.90746	0.4653	10	0.32370	T	0.25	.	8.8056	0.34936	0.1678:0.0:0.0:0.8322	.	151	P01375	TNFA_HUMAN	P	151	ENSP00000398698:L151P	ENSP00000398698:L151P	L	+	2	0	TNF	31653043	0.115000	0.22152	0.844000	0.33320	0.647000	0.38526	0.884000	0.28214	2.052000	0.61016	0.459000	0.35465	CTC		0.617	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2		
PRPH2	5961	hgsc.bcm.edu	37	6	42672305	42672305	+	Missense_Mutation	SNP	A	A	G	rs62645934|rs281865372		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr6:42672305A>G	ENST00000230381.5	-	2	865	c.626T>C	c.(625-627)gTc>gCc	p.V209A		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	209					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GCTGAAAGGGACGCCGTCCAC	0.572																																																	0			6											157.0	119.0	132.0					6																	42672305		2203	4300	6503	42780283	SO:0001583	missense	5961				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.626T>C	6.37:g.42672305A>G	ENSP00000230381:p.Val209Ala		42780283	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069831	0.76301	.	.	ENSG00000112619	ENST00000230381	D	0.88201	-2.35	5.1	5.1	0.69264	Tetraspanin, EC2 domain (1);Peripherin/rom-1, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94118	0.8114	M	0.88775	2.98	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	D	0.94988	0.8132	10	0.62326	D	0.03	.	14.8867	0.70575	1.0:0.0:0.0:0.0	.	209	P23942	PRPH2_HUMAN	A	209	ENSP00000230381:V209A	ENSP00000230381:V209A	V	-	2	0	PRPH2	42780283	1.000000	0.71417	0.928000	0.36995	0.718000	0.41266	9.273000	0.95719	1.931000	0.55961	0.533000	0.62120	GTC		0.572	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322	
BAI3	577	hgsc.bcm.edu	37	6	70048830	70048830	+	Missense_Mutation	SNP	G	G	A	rs74732221		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr6:70048830G>A	ENST00000370598.1	+	25	4032	c.3211G>A	c.(3211-3213)Ggt>Agt	p.G1071S	BAI3_ENST00000546190.1_Missense_Mutation_p.G35S|BAI3_ENST00000238918.8_Missense_Mutation_p.G277S	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1071					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|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(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCCTCATAGCGGTTTGACGCT	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		15621	0.001		0.0	False		,,,				2504	0.0																0			6											227.0	223.0	224.0					6																	70048830		2203	4300	6503	70105551	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3211G>A	6.37:g.70048830G>A	ENSP00000359630:p.Gly1071Ser		70105551	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.79	3.892886	0.72524	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.41400	2.04;2.66;1.0	6.16	6.16	0.99307	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	N	0.10874	0.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.05733	-1.0867	10	0.06757	T	0.87	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	277;1071;1071	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	S	1071;277;35	ENSP00000359630:G1071S;ENSP00000238918:G277S;ENSP00000441821:G35S	ENSP00000238918:G277S	G	+	1	0	BAI3	70105551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.659000	0.68010	2.937000	0.99478	0.650000	0.86243	GGT		0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
COL12A1	1303	hgsc.bcm.edu	37	6	75833803	75833803	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr6:75833803C>A	ENST00000322507.8	-	42	7041	c.6732G>T	c.(6730-6732)agG>agT	p.R2244S	COL12A1_ENST00000483888.2_Missense_Mutation_p.R2244S|COL12A1_ENST00000345356.6_Missense_Mutation_p.R1080S|COL12A1_ENST00000416123.2_Missense_Mutation_p.R2244S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2244	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTTCTTGTCCCCTTGTTCCTG	0.383																																																	0			6											113.0	106.0	108.0					6																	75833803		1905	4118	6023	75890523	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6732G>T	6.37:g.75833803C>A	ENSP00000325146:p.Arg2244Ser		75890523	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012670	0.54468	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.34	1.44	0.22558	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.054039	0.64402	D	0.000001	T	0.22820	0.0551	L	0.44542	1.39	0.40950	D	0.984538	B;B	0.33448	0.2;0.412	B;B	0.30316	0.069;0.114	T	0.04360	-1.0957	10	0.44086	T	0.13	.	8.833	0.35096	0.0:0.2227:0.0:0.7773	.	1080;2244	Q99715-2;Q99715	.;COCA1_HUMAN	S	2244;2244;1080;2244;2244	ENSP00000325146:R2244S;ENSP00000305147:R1080S;ENSP00000412864:R2244S;ENSP00000421216:R2244S	ENSP00000325146:R2244S	R	-	3	2	COL12A1	75890523	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	1.599000	0.36751	0.110000	0.17919	-0.423000	0.05987	AGG		0.383	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
SENP6	26054	hgsc.bcm.edu	37	6	76373082	76373082	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr6:76373082A>G	ENST00000447266.2	+	9	1320	c.842A>G	c.(841-843)gAa>gGa	p.E281G	SENP6_ENST00000327284.8_Missense_Mutation_p.E274G|SENP6_ENST00000370010.2_Missense_Mutation_p.E274G|SENP6_ENST00000370014.3_Missense_Mutation_p.E281G	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	281					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AACAATGTGGAAAAGGTTCCA	0.348																																																	0			6											117.0	113.0	114.0					6																	76373082		1851	4097	5948	76429802	SO:0001583	missense	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.842A>G	6.37:g.76373082A>G	ENSP00000402527:p.Glu281Gly		76429802	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.680065	0.00751	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000483859;ENST00000424947	T;T;T;T;T;T	0.43688	2.75;2.75;1.52;2.76;0.94;1.52	5.77	1.48	0.22813	.	0.250024	0.40385	N	0.001115	T	0.02230	0.0069	N	0.00237	-1.79	0.58432	D	0.999994	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39251	-0.9623	10	0.07030	T	0.85	-3.3924	4.5623	0.12166	0.4401:0.0:0.411:0.1489	.	274;281;274	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	G	274;281;274;281;171;171	ENSP00000359027:E274G;ENSP00000359031:E281G;ENSP00000321820:E274G;ENSP00000402527:E281G;ENSP00000426480:E171G;ENSP00000391426:E171G	ENSP00000321820:E274G	E	+	2	0	SENP6	76429802	1.000000	0.71417	0.976000	0.42696	0.125000	0.20455	1.876000	0.39588	0.036000	0.15547	-0.256000	0.11100	GAA		0.348	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571	
FRK	2444	hgsc.bcm.edu	37	6	116264271	116264271	+	Silent	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr6:116264271A>G	ENST00000606080.1	-	7	1664	c.1218T>C	c.(1216-1218)cgT>cgC	p.R406R	FRK_ENST00000538210.1_Silent_p.R264R	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	406	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	ATTTATTACTACGAATGGCTT	0.378																																																	0			6											82.0	77.0	79.0					6																	116264271		2203	4300	6503	116370964	SO:0001819	synonymous_variant	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1218T>C	6.37:g.116264271A>G			116370964	B4DY49|Q13128|Q9NTR5	Silent	SNP	ENST00000606080.1	37	CCDS5103.1																																																																																				0.378	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031	
SYNE1	23345	hgsc.bcm.edu	37	6	152473216	152473216	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr6:152473216G>A	ENST00000367255.5	-	134	24791	c.24190C>T	c.(24190-24192)Cgc>Tgc	p.R8064C	SYNE1_ENST00000354674.4_Missense_Mutation_p.R219C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7993C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7676C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8064C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7993C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2588C|SYNE1_ENST00000539504.1_Missense_Mutation_p.R219C|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8064					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)		GCCAGGCGGCGGTACTGCTTG	0.547										HNSCC(10;0.0054)																																							0			6											110.0	86.0	94.0					6																	152473216		2203	4300	6503	152514909	SO:0001583	missense	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.24190C>T	6.37:g.152473216G>A	ENSP00000356224:p.Arg8064Cys		152514909	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795575	0.90453	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.72	4.78	0.61160	.	0.000000	0.51477	D	0.000085	T	0.57213	0.2038	M	0.80028	2.48	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.986	D;D;D;D;P	0.81914	0.988;0.988;0.995;0.988;0.858	T	0.62435	-0.6855	10	0.87932	D	0	.	17.4496	0.87588	0.0:0.0:0.8673:0.1327	.	8064;8064;7993;7993;266	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	C	8064;219;710;7993;8064;7993;7676;2588;226;221;986;219	ENSP00000356224:R8064C;ENSP00000441052:R219C;ENSP00000356226:R710C;ENSP00000396024:R7993C;ENSP00000265368:R8064C;ENSP00000390975:R7993C;ENSP00000341887:R7676C;ENSP00000349276:R2588C;ENSP00000356220:R986C;ENSP00000346701:R219C	ENSP00000265368:R8064C	R	-	1	0	SYNE1	152514909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.704000	0.54815	2.716000	0.92895	0.650000	0.86243	CGC		0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
MRPL18	29074	hgsc.bcm.edu	37	6	160218385	160218385	+	Silent	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr6:160218385G>A	ENST00000367034.4	+	3	428	c.306G>A	c.(304-306)gtG>gtA	p.V102V	MRPL18_ENST00000480842.1_3'UTR|PNLDC1_ENST00000392167.3_5'Flank|PNLDC1_ENST00000610273.1_5'Flank	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	102					rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		GCAAGGTTGTGGTTTCGGCCT	0.448																																																	0			6											133.0	117.0	122.0					6																	160218385		2203	4300	6503	160138375	SO:0001819	synonymous_variant	29074			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"""Mitochondrial ribosomal proteins / large subunits"""	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.306G>A	6.37:g.160218385G>A			160138375	Q5TAP9|Q9NZW8	Silent	SNP	ENST00000367034.4	37	CCDS5270.1																																																																																				0.448	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042925.1		
ACAP1	9744	hgsc.bcm.edu	37	17	7246795	7246795	+	Missense_Mutation	SNP	C	C	T	rs374334594		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr17:7246795C>T	ENST00000158762.3	+	6	648	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	148	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R148W(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TCCCAGGCGCCGGGCCCAGGA	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14138	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	prostate(1)	17						C	TRP/ARG	0,4406		0,0,2203	32.0	41.0	38.0		442	5.2	1.0	17		38	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACAP1	NM_014716.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	148/741	7246795	1,13005	2203	4300	6503	7187519	SO:0001583	missense	9744			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.442C>T	17.37:g.7246795C>T	ENSP00000158762:p.Arg148Trp		7187519	Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286225	0.80803	0.0	1.16E-4	ENSG00000072818	ENST00000158762	T	0.04917	3.53	5.24	5.24	0.73138	.	0.063724	0.64402	D	0.000010	T	0.12050	0.0293	L	0.53249	1.67	0.80722	D	1	D	0.56968	0.978	P	0.49683	0.619	T	0.00189	-1.1939	10	0.87932	D	0	.	11.7309	0.51737	0.1764:0.8236:0.0:0.0	.	148	Q15027	ACAP1_HUMAN	W	148	ENSP00000158762:R148W	ENSP00000158762:R148W	R	+	1	2	ACAP1	7187519	0.886000	0.30341	1.000000	0.80357	0.979000	0.70002	1.727000	0.38095	2.618000	0.88619	0.462000	0.41574	CGG		0.677	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716	
TP53	7157	hgsc.bcm.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|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)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	17	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	7517845	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		7517845	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
PER1	5187	hgsc.bcm.edu	37	17	8053980	8053980	+	Missense_Mutation	SNP	C	C	A	rs550860633		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr17:8053980C>A	ENST00000317276.4	-	2	282	c.45G>T	c.(43-45)agG>agT	p.R15S	PER1_ENST00000581082.1_Missense_Mutation_p.R15S|PER1_ENST00000354903.5_Intron	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	15	Interaction with BTRC. {ECO:0000269|PubMed:15917222}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATTCCCCAGGCCTGGGGTCCC	0.662			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0			17											32.0	37.0	35.0					17																	8053980		2202	4298	6500	7994705	SO:0001583	missense	93210			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.45G>T	17.37:g.8053980C>A	ENSP00000314420:p.Arg15Ser		7994705	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962564	0.53400	.	.	ENSG00000179094	ENST00000317276	T	0.13307	2.6	5.38	-0.402	0.12404	.	0.176318	0.36101	N	0.002781	T	0.05731	0.0150	N	0.08118	0	0.80722	D	1	B;B	0.24258	0.02;0.1	B;B	0.28139	0.086;0.014	T	0.35450	-0.9788	10	0.35671	T	0.21	-7.0107	5.1591	0.15050	0.1314:0.5385:0.0:0.3301	.	15;15	Q6IN51;O15534	.;PER1_HUMAN	S	15	ENSP00000314420:R15S	ENSP00000314420:R15S	R	-	3	2	PER1	7994705	0.351000	0.24887	0.801000	0.32222	0.736000	0.42039	-0.348000	0.07740	-0.024000	0.13941	-0.261000	0.10672	AGG		0.662	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2		
MYO15A	51168	hgsc.bcm.edu	37	17	18054761	18054761	+	Silent	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr17:18054761C>T	ENST00000205890.5	+	40	8045	c.7707C>T	c.(7705-7707)ttC>ttT	p.F2569F	MYO15A_ENST00000585180.1_5'Flank|MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2569	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGAGCACTTCCCACAGCCCA	0.647																																																	0			17											74.0	79.0	78.0					17																	18054761		2083	4226	6309	17995486	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7707C>T	17.37:g.18054761C>T			17995486	B4DFC7	Silent	SNP	ENST00000205890.5	37	CCDS42271.1																																																																																				0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
RPTOR	57521	hgsc.bcm.edu	37	17	78857615	78857615	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr17:78857615G>T	ENST00000306801.3	+	16	2047	c.1685G>T	c.(1684-1686)tGc>tTc	p.C562F	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	562					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ATTGCCATCTGCCTGGAGCAG	0.647																																																	0			17											87.0	81.0	83.0					17																	78857615		2203	4300	6503	76472210	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1685G>T	17.37:g.78857615G>T	ENSP00000307272:p.Cys562Phe		76472210	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122123	0.77436	.	.	ENSG00000141564	ENST00000306801	T	0.32753	1.44	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73000	-0.4120	10	0.42905	T	0.14	.	18.0063	0.89210	0.0:0.0:1.0:0.0	.	562	Q8N122	RPTOR_HUMAN	F	562	ENSP00000307272:C562F	ENSP00000307272:C562F	C	+	2	0	RPTOR	76472210	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.159000	0.94728	2.322000	0.78497	0.558000	0.71614	TGC		0.647	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	
NCAM2	4685	hgsc.bcm.edu	37	21	22746200	22746200	+	Silent	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr21:22746200C>T	ENST00000400546.1	+	9	1311	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	NCAM2_ENST00000284894.7_Silent_p.I212I|NCAM2_ENST00000535285.1_Silent_p.I379I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	354	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ACGGCCGTATCGAAGTCAAAG	0.408																																																	0			21											129.0	121.0	124.0					21																	22746200		1917	4117	6034	21668071	SO:0001819	synonymous_variant	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1062C>T	21.37:g.22746200C>T			21668071	A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	CCDS42910.1																																																																																				0.408	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
ADAMTS1	9510	hgsc.bcm.edu	37	21	28211980	28211980	+	Missense_Mutation	SNP	C	C	T	rs201769018		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr21:28211980C>T	ENST00000284984.3	-	7	2408	c.1954G>A	c.(1954-1956)Gtc>Atc	p.V652I		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	652	Cys-rich.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V652I(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTTGGTGAGACGCCAGCGTAC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		16223	0.0		0.001	False		,,,				2504	0.0																2	Substitution - Missense(2)	prostate(2)	21											127.0	121.0	123.0					21																	28211980		2203	4300	6503	27133851	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1954G>A	21.37:g.28211980C>T	ENSP00000284984:p.Val652Ile		27133851	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	CCDS33524.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.29	1.308055	0.23821	.	.	ENSG00000154734	ENST00000284984	T	0.59502	0.26	5.35	5.35	0.76521	.	.	.	.	.	T	0.52645	0.1747	L	0.52905	1.665	0.54753	D	0.999989	P	0.45396	0.857	B	0.40677	0.337	T	0.50118	-0.8865	9	0.30854	T	0.27	.	13.8532	0.63510	0.0:0.9272:0.0:0.0728	.	652	Q9UHI8	ATS1_HUMAN	I	652	ENSP00000284984:V652I	ENSP00000284984:V652I	V	-	1	0	ADAMTS1	27133851	1.000000	0.71417	0.931000	0.37212	0.048000	0.14542	4.517000	0.60503	2.941000	0.99782	0.655000	0.94253	GTC		0.468	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		
KRTAP13-2	337959	hgsc.bcm.edu	37	21	31744209	31744209	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr21:31744209C>T	ENST00000399889.2	-	1	348	c.323G>A	c.(322-324)cGc>cAc	p.R108H		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	108						intermediate filament (GO:0005882)		p.R108P(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GCCCAGGGAGCGGCAGCTGCT	0.607																																																	1	Substitution - Missense(1)	lung(1)	21											48.0	49.0	48.0					21																	31744209		2203	4300	6503	30666080	SO:0001583	missense	337959			AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.323G>A	21.37:g.31744209C>T	ENSP00000382777:p.Arg108His		30666080		Missense_Mutation	SNP	ENST00000399889.2	37	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	C	0.766	-0.767386	0.02974	.	.	ENSG00000182816	ENST00000399889	T	0.03358	3.96	4.48	1.15	0.20763	.	1.529090	0.04771	N	0.427941	T	0.03477	0.0100	L	0.37466	1.105	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.48293	-0.9048	10	0.13470	T	0.59	.	3.7238	0.08467	0.0:0.5126:0.1994:0.288	.	108	Q52LG2	KR132_HUMAN	H	108	ENSP00000382777:R108H	ENSP00000382777:R108H	R	-	2	0	KRTAP13-2	30666080	0.000000	0.05858	0.001000	0.08648	0.695000	0.40330	-1.349000	0.02627	0.068000	0.16574	-0.251000	0.11542	CGC		0.607	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1		
IFT140	9742	hgsc.bcm.edu	37	16	1560954	1560954	+	Silent	SNP	G	G	A	rs61749517	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr16:1560954G>A	ENST00000426508.2	-	31	4743	c.4380C>T	c.(4378-4380)gaC>gaT	p.D1460D	LA16c-385E7.1_ENST00000566922.1_lincRNA|IFT140_ENST00000361339.5_Silent_p.D654D	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1460					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CTCAGGGGTCGTCATCTGCCT	0.617													G|||	91	0.0181709	0.0643	0.0086	5008	,	,		15823	0.0		0.0	False		,,,				2504	0.0																0			16						G		308,4082	156.3+/-189.4	15,278,1902	52.0	44.0	47.0		4380	-2.9	0.0	16	dbSNP_129	47	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	IFT140	NM_014714.3		15,280,6200	AA,AG,GG		0.0233,7.0159,2.3865		1460/1463	1560954	310,12680	2195	4300	6495	1500955	SO:0001819	synonymous_variant	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.4380C>T	16.37:g.1560954G>A			1500955	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																				0.617	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
SEC14L5	9717	hgsc.bcm.edu	37	16	5041902	5041902	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr16:5041902C>T	ENST00000251170.7	+	6	718	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	180						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCACATTCCGCGCTGGACGCC	0.652																																																	0			16											40.0	42.0	41.0					16																	5041902		2070	4194	6264	4981903	SO:0001583	missense	9717			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.538C>T	16.37:g.5041902C>T	ENSP00000251170:p.Arg180Cys		4981903		Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693769	0.48202	.	.	ENSG00000103184	ENST00000251170	T	0.74315	-0.83	4.54	4.54	0.55810	.	0.259681	0.26927	N	0.021785	T	0.81380	0.4810	M	0.76328	2.33	0.80722	D	1	D	0.71674	0.998	P	0.55455	0.776	D	0.84040	0.0364	10	0.87932	D	0	-30.1684	12.5921	0.56449	0.1657:0.8343:0.0:0.0	.	180	O43304	S14L5_HUMAN	C	180	ENSP00000251170:R180C	ENSP00000251170:R180C	R	+	1	0	SEC14L5	4981903	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	3.835000	0.55805	2.357000	0.79964	0.650000	0.86243	CGC		0.652	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1		
CACNG3	10368	hgsc.bcm.edu	37	16	24372717	24372717	+	Missense_Mutation	SNP	G	G	A	rs140935639	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr16:24372717G>A	ENST00000005284.3	+	4	1683	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	161					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATCAGCCAACGCCGGAGACCC	0.443																																																	0			16						G	THR/ALA	1,4393	2.1+/-5.4	0,1,2196	112.0	124.0	120.0		481	5.0	0.8	16	dbSNP_134	120	2,8598	2.2+/-6.3	0,2,4298	no	missense	CACNG3	NM_006539.3	58	0,3,6494	AA,AG,GG		0.0233,0.0228,0.0231	benign	161/316	24372717	3,12991	2197	4300	6497	24280218	SO:0001583	missense	10368			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.481G>A	16.37:g.24372717G>A	ENSP00000005284:p.Ala161Thr		24280218		Missense_Mutation	SNP	ENST00000005284.3	37	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	8.379	0.837053	0.16891	2.28E-4	2.33E-4	ENSG00000006116	ENST00000005284	D	0.89415	-2.51	4.96	4.96	0.65561	.	0.054811	0.64402	D	0.000001	D	0.91375	0.7279	M	0.71581	2.175	0.46478	D	0.999065	D	0.61697	0.99	P	0.55713	0.782	D	0.89126	0.3506	10	0.12766	T	0.61	-10.5168	16.81	0.85717	0.0:0.0:1.0:0.0	.	161	O60359	CCG3_HUMAN	T	161	ENSP00000005284:A161T	ENSP00000005284:A161T	A	+	1	0	CACNG3	24280218	1.000000	0.71417	0.842000	0.33263	0.392000	0.30506	4.886000	0.63149	2.274000	0.75844	0.655000	0.94253	GCC		0.443	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539	
PHKB	5257	hgsc.bcm.edu	37	16	47684505	47684505	+	Silent	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr16:47684505T>C	ENST00000323584.5	+	19	1872	c.1848T>C	c.(1846-1848)ctT>ctC	p.L616L	PHKB_ENST00000455779.1_Silent_p.L609L|PHKB_ENST00000299167.8_Silent_p.L616L|PHKB_ENST00000566044.1_Silent_p.L609L	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	616					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GACGTCCACTTTTCCTTGTTC	0.413																																																	0			16											131.0	118.0	122.0					16																	47684505		2201	4300	6501	46242006	SO:0001819	synonymous_variant	5257				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1848T>C	16.37:g.47684505T>C			46242006	Q8N4T5	Silent	SNP	ENST00000323584.5	37	CCDS10729.1																																																																																				0.413	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1		
SLC6A2	6530	hgsc.bcm.edu	37	16	55703493	55703493	+	Silent	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr16:55703493G>A	ENST00000379906.2	+	2	546	c.291G>A	c.(289-291)ccG>ccA	p.P97P	SLC6A2_ENST00000568943.1_Silent_p.P97P|SLC6A2_ENST00000414754.3_Silent_p.P97P|SLC6A2_ENST00000566163.1_Silent_p.P97P|SLC6A2_ENST00000561820.1_Silent_p.P97P|SLC6A2_ENST00000219833.8_Silent_p.P97P|SLC6A2_ENST00000567238.1_5'Flank	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	97					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCTTGATCCCGTACACACTGT	0.577																																																	0			16											96.0	82.0	86.0					16																	55703493		2198	4300	6498	54260994	SO:0001819	synonymous_variant	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.291G>A	16.37:g.55703493G>A			54260994	B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	CCDS10754.1																																																																																				0.577	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		
CDH13	1012	hgsc.bcm.edu	37	16	83378513	83378513	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr16:83378513C>T	ENST00000566620.1	+	6	973	c.683C>T	c.(682-684)cCg>cTg	p.P228L	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.P189L|CDH13_ENST00000268613.10_Missense_Mutation_p.P275L	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	228	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CTCGAGGGGCCGGTGCCTCTG	0.473																																																	0			16											83.0	85.0	84.0					16																	83378513		1868	4095	5963	81936014	SO:0001583	missense	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.683C>T	16.37:g.83378513C>T	ENSP00000454435:p.Pro228Leu		81936014	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618755	0.87460	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.51817	0.69	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71187	0.3310	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.79108	0.992;0.959;0.878	T	0.72760	-0.4196	9	0.72032	D	0.01	.	18.8872	0.92383	0.0:1.0:0.0:0.0	.	189;275;228	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	L	275;228;189	ENSP00000268613:P275L	ENSP00000268613:P275L	P	+	2	0	CDH13	81936014	1.000000	0.71417	0.630000	0.29268	0.850000	0.48378	6.212000	0.72188	2.882000	0.98803	0.655000	0.94253	CCG		0.473	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
MYOM1	8736	hgsc.bcm.edu	37	18	3188882	3188882	+	Missense_Mutation	SNP	C	C	T	rs200770047		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr18:3188882C>T	ENST00000356443.4	-	4	968	c.635G>A	c.(634-636)aGg>aAg	p.R212K	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.R212K|MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	212	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R212K(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTGGACTGCCTGGATGCCGT	0.517																																																	1	Substitution - Missense(1)	endometrium(1)	18											260.0	242.0	248.0					18																	3188882		2044	4187	6231	3178882	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.635G>A	18.37:g.3188882C>T	ENSP00000348821:p.Arg212Lys		3178882	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	2.966	-0.213546	0.06140	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.45668	1.03;1.04;0.89	3.23	0.752	0.18398	.	0.084010	0.41097	N	0.000942	T	0.14830	0.0358	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28808	-1.0032	10	0.05351	T	0.99	.	4.9448	0.13984	0.0:0.2653:0.0:0.7347	.	212;212	P52179-2;P52179	.;MYOM1_HUMAN	K	212	ENSP00000348821:R212K;ENSP00000383413:R212K;ENSP00000261606:R212K	ENSP00000261606:R212K	R	-	2	0	MYOM1	3178882	0.789000	0.28775	0.018000	0.16275	0.000000	0.00434	1.455000	0.35190	0.165000	0.19558	-1.097000	0.02148	AGG		0.517	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
EPB41L3	23136	hgsc.bcm.edu	37	18	5395107	5395107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr18:5395107G>A	ENST00000341928.2	-	21	3452	c.3112C>T	c.(3112-3114)Cga>Tga	p.R1038*	EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R869*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R1038*|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R343*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.R816*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.R816*|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R335*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1038	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATGACTATTCGCTTCTCAATT	0.458																																																	0			18											142.0	120.0	128.0					18																	5395107		2203	4300	6503	5385107	SO:0001587	stop_gained	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3112C>T	18.37:g.5395107G>A	ENSP00000343158:p.Arg1038*		5385107	B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	43	10.347299	0.99388	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	.	.	.	5.93	2.9	0.33743	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9387	0.70978	0.0:0.0:0.5508:0.4492	.	.	.	.	X	1038;707;869;707;335;343;1038;816	.	ENSP00000343158:R1038X	R	-	1	2	EPB41L3	5385107	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.628000	0.37060	0.257000	0.21650	0.655000	0.94253	CGA		0.458	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
SMAD4	4089	hgsc.bcm.edu	37	18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A	rs377767347		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.R361H(12)|p.?(2)		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)		GGAGGAGATCGCTTTTGTTTG	0.413																																																	50	Whole gene deletion(36)|Substitution - Missense(12)|Unknown(2)	pancreas(26)|large_intestine(13)|lung(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|oesophagus(1)	18	GRCh37	CM004254	SMAD4	M							167.0	138.0	148.0					18																	48591919		2203	4300	6503	46845917	SO:0001583	missense	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.1082G>A	18.37:g.48591919G>A	ENSP00000341551:p.Arg361His		46845917	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477304	0.96291	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98120	-4.73;-4.73	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	361	Q13485	SMAD4_HUMAN	H	361	ENSP00000341551:R361H;ENSP00000381452:R361H	ENSP00000341551:R361H	R	+	2	0	SMAD4	46845917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.828000	0.86729	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266125	41266125	+	Missense_Mutation	SNP	C	C	T	rs121913413		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:41266125C>T	ENST00000349496.5	+	3	402	c.122C>T	c.(121-123)aCc>aTc	p.T41I	CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34I|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41I|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41I|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41I	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes). {ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10398436, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10655994, ECO:0000269|PubMed:9927029}.|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10435629}.		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.T41I(74)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41N(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A39_T42del(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)		GGTGCCACTACCACAGCTCCT	0.507		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"""	204	Deletion - In frame(95)|Substitution - Missense(83)|Complex - deletion inframe(17)|Unknown(7)|Deletion - Frameshift(2)	liver(105)|large_intestine(24)|pituitary(20)|endometrium(14)|stomach(8)|skin(6)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|pancreas(3)|thyroid(2)|small_intestine(2)|prostate(2)|ovary(2)|bone(2)|adrenal_gland(1)|cervix(1)	3											90.0	77.0	81.0					3																	41266125		2203	4300	6503	41241129	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.122C>T	3.37:g.41266125C>T	ENSP00000344456:p.Thr41Ile		41241129	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568904	0.86439	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.79258	2.445	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	T	0.72893	-0.4154	10	0.87932	D	0	-8.9189	20.2983	0.98569	0.0:1.0:0.0:0.0	.	41	P35222	CTNB1_HUMAN	I	34;41;41;41;41;34;41;41;41	ENSP00000400508:T34I;ENSP00000385604:T41I;ENSP00000412219:T41I;ENSP00000379486:T41I;ENSP00000344456:T41I;ENSP00000411226:T34I;ENSP00000379488:T41I;ENSP00000409302:T41I;ENSP00000401599:T41I	ENSP00000344456:T41I	T	+	2	0	CTNNB1	41241129	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	ACC		0.507	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CACNA2D3	55799	hgsc.bcm.edu	37	3	54661843	54661843	+	Silent	SNP	C	C	T	rs375011891		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:54661843C>T	ENST00000474759.1	+	10	1041	c.993C>T	c.(991-993)ttC>ttT	p.F331F	CACNA2D3_ENST00000490478.1_Silent_p.F237F|CACNA2D3_ENST00000415676.2_Silent_p.F331F|CACNA2D3_ENST00000288197.5_Silent_p.F331F	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	331	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F331F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	ACAAACTTTTCGCCAAAGGAA	0.413																																																	1	Substitution - coding silent(1)	large_intestine(1)	3						C		0,3872		0,0,1936	103.0	95.0	98.0		993	2.9	1.0	3		98	2,8250		0,2,4124	no	coding-synonymous	CACNA2D3	NM_018398.2		0,2,6060	TT,TC,CC		0.0242,0.0,0.0165		331/1092	54661843	2,12122	1936	4126	6062	54636883	SO:0001819	synonymous_variant	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.993C>T	3.37:g.54661843C>T			54636883	B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	CCDS54598.1																																																																																				0.413	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		
RABL3	285282	hgsc.bcm.edu	37	3	120417419	120417419	+	Splice_Site	SNP	C	C	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:120417419C>G	ENST00000273375.3	-	5	414	c.385G>C	c.(385-387)Gat>Cat	p.D129H	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Splice_Site_p.D129H	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	129	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TGATCATAATCCCTGTGATAA	0.328																																																	0			3											184.0	202.0	196.0					3																	120417419		2203	4296	6499	121900109	SO:0001630	splice_region_variant	285282			BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.384-1G>C	3.37:g.120417419C>G			121900109	Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273984	0.80580	.	.	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.72394	-0.65;-0.62	5.72	5.72	0.89469	.	0.044427	0.85682	D	0.000000	T	0.80773	0.4687	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.80118	-0.1516	10	0.51188	T	0.08	-16.9736	18.8571	0.92257	0.0:1.0:0.0:0.0	.	129	Q5HYI8	RABL3_HUMAN	H	129	ENSP00000273375:D129H;ENSP00000419986:D129H	ENSP00000273375:D129H	D	-	1	0	RABL3	121900109	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.364000	0.79526	2.695000	0.91970	0.557000	0.71058	GAT		0.328	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825	Missense_Mutation
IFT122	55764	hgsc.bcm.edu	37	3	129185862	129185862	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:129185862G>T	ENST00000348417.2	+	8	770	c.693G>T	c.(691-693)gaG>gaT	p.E231D	IFT122_ENST00000347300.2_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000431818.2_Missense_Mutation_p.E81D|IFT122_ENST00000296266.3_Missense_Mutation_p.E282D|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000507564.1_Intron	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	231					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GTGAGGCAGAGGAGGAAGAAC	0.527																																																	0			3											151.0	156.0	154.0					3																	129185862		2203	4300	6503	130668552	SO:0001583	missense	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.693G>T	3.37:g.129185862G>T	ENSP00000324005:p.Glu231Asp		130668552	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391906	0.62066	.	.	ENSG00000163913	ENST00000296266;ENST00000431818;ENST00000348417	T;T;T	0.60797	0.16;0.35;0.82	4.64	4.64	0.57946	WD40 repeat-like-containing domain (1);	0.373706	0.24851	N	0.035095	T	0.53899	0.1825	N	0.08118	0	0.80722	D	1	P;D	0.56035	0.956;0.974	D;D	0.70487	0.931;0.969	T	0.49862	-0.8894	10	0.14656	T	0.56	-26.0989	14.5398	0.67984	0.0:0.0:1.0:0.0	.	231;282	Q9HBG6;G3XAB1	IF122_HUMAN;.	D	282;81;231	ENSP00000296266:E282D;ENSP00000410946:E81D;ENSP00000324005:E231D	ENSP00000296266:E282D	E	+	3	2	IFT122	130668552	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.153000	0.42282	2.421000	0.82119	0.462000	0.41574	GAG		0.527	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262	
ESYT3	83850	hgsc.bcm.edu	37	3	138187694	138187694	+	Nonsense_Mutation	SNP	C	C	T	rs184387509		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:138187694C>T	ENST00000389567.4	+	14	1591	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	469	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGGTGAATATCGAGCCAAAAA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		22603	0.0		0.0	False		,,,				2504	0.001																0			3											219.0	242.0	234.0					3																	138187694		2203	4300	6503	139670384	SO:0001587	stop_gained	83850			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1405C>T	3.37:g.138187694C>T	ENSP00000374218:p.Arg469*		139670384	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Nonsense_Mutation	SNP	ENST00000389567.4	37	CCDS3101.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	38	6.730251	0.97796	.	.	ENSG00000158220	ENST00000389567	.	.	.	4.29	2.26	0.28386	.	0.531681	0.16193	N	0.225282	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-6.0E-4	8.5551	0.33476	0.4513:0.5487:0.0:0.0	.	.	.	.	X	469	.	ENSP00000374218:R469X	R	+	1	2	ESYT3	139670384	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.419000	0.34793	0.998000	0.38996	0.462000	0.41574	CGA		0.468	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913	
PIK3CB	5291	hgsc.bcm.edu	37	3	138478049	138478049	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:138478049A>T	ENST00000477593.1	-	2	210	c.137T>A	c.(136-138)gTa>gAa	p.V46E	PIK3CB_ENST00000289153.2_Missense_Mutation_p.V46E			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	46	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TTCCCGAGGTACCTCCAACTG	0.418																																																	0			3											67.0	65.0	66.0					3																	138478049		2203	4300	6503	139960739	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.137T>A	3.37:g.138478049A>T	ENSP00000418143:p.Val46Glu		139960739	D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.656313	0.88056	.	.	ENSG00000051382	ENST00000477593;ENST00000289153;ENST00000483968;ENST00000461451;ENST00000465581	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.84	5.84	0.93424	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84750	0.5541	M	0.67397	2.05	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	D	0.86197	0.1616	10	0.72032	D	0.01	-18.386	16.2302	0.82332	1.0:0.0:0.0:0.0	.	46	P42338	PK3CB_HUMAN	E	46	ENSP00000418143:V46E;ENSP00000289153:V46E;ENSP00000419857:V46E;ENSP00000420399:V46E	ENSP00000289153:V46E	V	-	2	0	PIK3CB	139960739	1.000000	0.71417	0.997000	0.53966	0.813000	0.45954	8.851000	0.92205	2.228000	0.72767	0.533000	0.62120	GTA		0.418	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1		
RBP2	5948	hgsc.bcm.edu	37	3	139171980	139171980	+	Missense_Mutation	SNP	C	C	T	rs117646086		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:139171980C>T	ENST00000232217.2	-	4	439	c.383G>A	c.(382-384)cGt>cAt	p.R128H	RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000510068.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	128					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	GAACACTTGACGGCACACCTG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		16087	0.001		0.0	False		,,,				2504	0.0																0			3											84.0	71.0	75.0					3																	139171980		2203	4300	6503	140654670	SO:0001583	missense	23504			U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"""Fatty acid binding protein family"""	9920	protein-coding gene	gene with protein product		180280	"""retinol-binding protein 2, cellular"""			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.383G>A	3.37:g.139171980C>T	ENSP00000232217:p.Arg128His		140654670	A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP	ENST00000232217.2	37	CCDS3109.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.47	2.545427	0.45280	.	.	ENSG00000114113	ENST00000232217	T	0.07908	3.15	6.04	-10.1	0.00402	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.698788	0.15320	N	0.268609	T	0.03434	0.0099	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.35599	-0.9782	10	0.38643	T	0.18	.	15.2104	0.73219	0.079:0.0931:0.0:0.8279	.	128	P50120	RET2_HUMAN	H	128	ENSP00000232217:R128H	ENSP00000232217:R128H	R	-	2	0	RBP2	140654670	0.002000	0.14202	0.001000	0.08648	0.993000	0.82548	-0.442000	0.06871	-1.698000	0.01418	-0.215000	0.12644	CGT		0.572	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	NM_004164	
CP	1356	hgsc.bcm.edu	37	3	148916279	148916279	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:148916279C>A	ENST00000264613.6	-	9	1850	c.1588G>T	c.(1588-1590)Gca>Tca	p.A530S	CP_ENST00000462336.1_5'Flank	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	530	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ACAGGATCTGCATTAGTGGGT	0.458																																																	0			3											67.0	61.0	63.0					3																	148916279		2203	4300	6503	150398969	SO:0001583	missense	1356			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1588G>T	3.37:g.148916279C>A	ENSP00000264613:p.Ala530Ser		150398969	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	3.831	-0.035778	0.07497	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.98178	-4.77;-4.77	5.62	1.09	0.20402	Cupredoxin (2);	0.553554	0.20678	N	0.087705	D	0.88529	0.6461	N	0.03050	-0.425	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.81309	-0.0991	10	0.02654	T	1	-6.4354	1.5087	0.02492	0.1336:0.4089:0.15:0.3074	.	530;530;530;530	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	S	530;313	ENSP00000264613:A530S;ENSP00000420545:A313S	ENSP00000264613:A530S	A	-	1	0	CP	150398969	0.000000	0.05858	0.390000	0.26220	0.978000	0.69477	-0.281000	0.08456	0.590000	0.29694	0.650000	0.86243	GCA		0.458	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
FBXO45	200933	hgsc.bcm.edu	37	3	196311032	196311032	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:196311032A>G	ENST00000311630.6	+	3	1001	c.704A>G	c.(703-705)gAc>gGc	p.D235G	FBXO45_ENST00000440469.1_Missense_Mutation_p.D56G	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	235	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GTCATCTTGGACATGGAAGAT	0.408																																																	0			3											135.0	129.0	131.0					3																	196311032		1838	4087	5925	197795429	SO:0001583	missense	200933			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.704A>G	3.37:g.196311032A>G	ENSP00000310332:p.Asp235Gly		197795429	A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	37	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918358	0.73098	.	.	ENSG00000174013	ENST00000440469;ENST00000311630	D;D	0.82526	-1.62;-1.62	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.93350	0.7880	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95098	0.8228	10	0.87932	D	0	-16.4144	15.0971	0.72244	1.0:0.0:0.0:0.0	.	235	P0C2W1	FBSP1_HUMAN	G	56;235	ENSP00000389868:D56G;ENSP00000310332:D235G	ENSP00000310332:D235G	D	+	2	0	FBXO45	197795429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.500000	0.90498	2.212000	0.71576	0.460000	0.39030	GAC		0.408	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2		
SLCO1B1	10599	hgsc.bcm.edu	37	12	21358822	21358822	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr12:21358822A>G	ENST00000256958.2	+	11	1448	c.1352A>G	c.(1351-1353)cAt>cGt	p.H451R		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	451					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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.H451L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GTGACATCTCATAGAGATGTA	0.373																																																	1	Substitution - Missense(1)	ovary(1)	12											97.0	94.0	95.0					12																	21358822		2203	4300	6503	21250089	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1352A>G	12.37:g.21358822A>G	ENSP00000256958:p.His451Arg		21250089	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717199	0.30413	.	.	ENSG00000134538	ENST00000256958	T	0.39056	1.1	4.06	-0.432	0.12291	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.517240	0.03380	N	0.200267	T	0.44159	0.1280	M	0.77103	2.36	0.09310	N	1	B	0.17852	0.024	B	0.25759	0.063	T	0.24728	-1.0152	10	0.25751	T	0.34	.	5.2215	0.15371	0.3418:0.4868:0.0:0.1714	.	451	Q9Y6L6	SO1B1_HUMAN	R	451	ENSP00000256958:H451R	ENSP00000256958:H451R	H	+	2	0	SLCO1B1	21250089	0.010000	0.17322	0.604000	0.28916	0.434000	0.31775	0.689000	0.25437	0.402000	0.25451	0.397000	0.26171	CAT		0.373	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
KRAS	3845	hgsc.bcm.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr12:25398281C>T	ENST00000256078.4	-	2	101	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000557334.1_Missense_Mutation_p.G13D|KRAS_ENST00000556131.1_Missense_Mutation_p.G13D|KRAS_ENST00000311936.3_Missense_Mutation_p.G13D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:3627975}.|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). {ECO:0000269|PubMed:16247081}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|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)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	3291	Substitution - Missense(3290)|Complex - compound substitution(1)	large_intestine(2808)|haematopoietic_and_lymphoid_tissue(94)|lung(92)|endometrium(54)|soft_tissue(38)|ovary(38)|stomach(32)|pancreas(30)|thyroid(27)|biliary_tract(21)|prostate(20)|breast(10)|cervix(4)|gastrointestinal_tract_(site_indeterminate)(3)|upper_aerodigestive_tract(3)|urinary_tract(3)|liver(3)|salivary_gland(3)|small_intestine(3)|oesophagus(2)|skin(1)|genital_tract(1)|bone(1)	12											88.0	78.0	82.0					12																	25398281		2203	4300	6503	25289548	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.38G>A	12.37:g.25398281C>T	ENSP00000256078:p.Gly13Asp		25289548	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867862	0.91587	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.82803	-1.65;-0.7;-0.7;-0.7	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.93062	3.375	0.80722	D	1	B;P	0.43314	0.215;0.803	B;P	0.46172	0.175;0.506	D	0.92106	0.5692	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	D	13	ENSP00000308495:G13D;ENSP00000452512:G13D;ENSP00000256078:G13D;ENSP00000451856:G13D	ENSP00000256078:G13D	G	-	2	0	KRAS	25289548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC		0.338	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
FAM186A	121006	hgsc.bcm.edu	37	12	50745677	50745677	+	Silent	SNP	T	T	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr12:50745677T>A	ENST00000327337.5	-	4	4937	c.4938A>T	c.(4936-4938)gcA>gcT	p.A1646A	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_Silent_p.A1646A	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1646																	GGACTCCCAGTGCCTGGGCCT	0.607																																					NSCLC(138;1796 1887 12511 19463 37884)												0			12											30.0	30.0	30.0					12																	50745677		692	1591	2283	49031944	SO:0001819	synonymous_variant	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.4938A>T	12.37:g.50745677T>A			49031944		Silent	SNP	ENST00000327337.5	37	CCDS44878.1																																																																																				0.607	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1	XM_001718353	
PPFIA2	8499	hgsc.bcm.edu	37	12	81760914	81760914	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr12:81760914C>G	ENST00000549396.1	-	14	1678	c.1518G>C	c.(1516-1518)aaG>aaC	p.K506N	PPFIA2_ENST00000548586.1_Missense_Mutation_p.K506N|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000550359.2_Missense_Mutation_p.K353N|PPFIA2_ENST00000541570.2_Missense_Mutation_p.K73N|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.K506N|PPFIA2_ENST00000550584.2_Missense_Mutation_p.K506N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.K488N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.K488N|PPFIA2_ENST00000407050.4_Missense_Mutation_p.K432N|PPFIA2_ENST00000443686.3_Missense_Mutation_p.K407N	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	506	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTTCAAGATTCTTTCTGAAAG	0.229																																																	0			12											24.0	22.0	22.0					12																	81760914		1460	3308	4768	80285045	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1518G>C	12.37:g.81760914C>G	ENSP00000450337:p.Lys506Asn		80285045	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294429	0.60086	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058;ENST00000548670	T;T;T;T;T;T;T;T;T	0.57752	1.68;1.68;1.3;1.37;1.69;1.68;1.31;1.7;0.38	5.41	2.53	0.30540	.	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	M	0.82323	2.585	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.69665	-0.5084	10	0.72032	D	0.01	-26.4414	8.0156	0.30379	0.0:0.5515:0.0:0.4485	.	506	O75334	LIPA2_HUMAN	N	506;488;73;432;517;488;506;407;506;87;73	ENSP00000450337:K506N;ENSP00000450298:K488N;ENSP00000438337:K73N;ENSP00000385093:K432N;ENSP00000327416:K488N;ENSP00000449338:K506N;ENSP00000388373:K407N;ENSP00000447868:K506N;ENSP00000448941:K87N	ENSP00000327416:K488N	K	-	3	2	PPFIA2	80285045	0.982000	0.34865	1.000000	0.80357	0.998000	0.95712	0.086000	0.14935	0.748000	0.32831	0.637000	0.83480	AAG		0.229	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
PITPNM2	57605	hgsc.bcm.edu	37	12	123480133	123480133	+	Silent	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr12:123480133G>A	ENST00000542749.1	-	12	1920	c.1857C>T	c.(1855-1857)ggC>ggT	p.G619G	PITPNM2_ENST00000320201.4_Silent_p.G619G|PITPNM2_ENST00000392428.1_Silent_p.G340G|PITPNM2_ENST00000280562.5_Silent_p.G619G			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	619	Gly-rich.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		tgccaccaccgccaccgccgc	0.667																																																	0			12											34.0	23.0	27.0					12																	123480133		2156	4268	6424	122046086	SO:0001819	synonymous_variant	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1857C>T	12.37:g.123480133G>A			122046086	Q9P271	Silent	SNP	ENST00000542749.1	37	CCDS9242.1																																																																																				0.667	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845	
ATP10A	57194	hgsc.bcm.edu	37	15	25940054	25940054	+	Silent	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr15:25940054G>A	ENST00000356865.6	-	14	3111	c.3000C>T	c.(2998-3000)tcC>tcT	p.S1000S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1000					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)		AGCAGAGGACGGAGCGGCACT	0.597																																																	0			15											76.0	74.0	75.0					15																	25940054		2203	4300	6503	23491147	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.3000C>T	15.37:g.25940054G>A			23491147	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																				0.597	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
UNC13C	440279	hgsc.bcm.edu	37	15	54305899	54305899	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr15:54305899G>C	ENST00000260323.11	+	1	799	c.799G>C	c.(799-801)Gtc>Ctc	p.V267L	UNC13C_ENST00000537900.1_Missense_Mutation_p.V267L|UNC13C_ENST00000545554.1_Missense_Mutation_p.V267L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	267					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACGAGGGCACGTCAATGCTCT	0.458																																																	0			15											95.0	93.0	93.0					15																	54305899		1983	4160	6143	52093191	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.799G>C	15.37:g.54305899G>C	ENSP00000260323:p.Val267Leu		52093191	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814099	0.70912	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81415	-1.49;-1.49;-1.49	4.97	4.97	0.65823	.	.	.	.	.	T	0.79034	0.4378	N	0.11201	0.11	0.54753	D	0.999982	D	0.63880	0.993	D	0.74023	0.982	T	0.75889	-0.3158	9	0.14252	T	0.57	.	17.243	0.87019	0.0:0.0:1.0:0.0	.	267	Q8NB66	UN13C_HUMAN	L	267	ENSP00000260323:V267L;ENSP00000438156:V267L;ENSP00000442569:V267L	ENSP00000260323:V267L	V	+	1	0	UNC13C	52093191	1.000000	0.71417	0.145000	0.22337	0.963000	0.63663	9.785000	0.99042	2.281000	0.76405	0.650000	0.86243	GTC		0.458	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
UACA	55075	hgsc.bcm.edu	37	15	70959142	70959142	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr15:70959142T>C	ENST00000322954.6	-	16	4066	c.3881A>G	c.(3880-3882)gAt>gGt	p.D1294G	UACA_ENST00000539319.1_Missense_Mutation_p.D1185G|UACA_ENST00000379983.2_Missense_Mutation_p.D1281G|UACA_ENST00000560441.1_Missense_Mutation_p.D1279G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1294					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.D1281G(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TAAGGACTTATCACATCGTTC	0.343																																																	1	Substitution - Missense(1)	ovary(1)	15											181.0	155.0	164.0					15																	70959142		2199	4297	6496	68746196	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3881A>G	15.37:g.70959142T>C	ENSP00000314556:p.Asp1294Gly		68746196	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062390	0.76187	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.36340	1.26;1.28;1.73	5.85	5.85	0.93711	.	0.085159	0.49916	D	0.000122	T	0.60856	0.2301	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.64063	-0.6495	10	0.72032	D	0.01	-26.0951	16.2303	0.82332	0.0:0.0:0.0:1.0	.	1185;1294;1294;1281	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	G	1294;1281;1185	ENSP00000314556:D1294G;ENSP00000369319:D1281G;ENSP00000438667:D1185G	ENSP00000314556:D1294G	D	-	2	0	UACA	68746196	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.404000	0.79996	2.233000	0.73108	0.533000	0.62120	GAT		0.343	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
GYG2	8908	hgsc.bcm.edu	37	X	2777919	2777919	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:2777919G>A	ENST00000381163.3	+	8	1025	c.743G>A	c.(742-744)gGg>gAg	p.G248E	GYG2_ENST00000398806.3_Missense_Mutation_p.G217E|GYG2_ENST00000338623.5_Missense_Mutation_p.G248E|GYG2_ENST00000542787.1_Missense_Mutation_p.G248E|GYG2_ENST00000381161.1_3'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	248					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACTTTTTGGGGTCCATGAAA	0.498																																																	0			X											70.0	59.0	62.0					X																	2777919		2203	4298	6501	2787919	SO:0001583	missense	8908			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.743G>A	X.37:g.2777919G>A	ENSP00000370555:p.Gly248Glu		2787919	B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	CCDS14121.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700530	0.48307	.	.	ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	3.73	3.73	0.42828	.	0.000000	0.64402	D	0.000020	D	0.90978	0.7163	H	0.98068	4.14	0.51482	D	0.999926	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0	D	0.94353	0.7581	10	0.87932	D	0	.	14.936	0.70954	0.0:0.0:1.0:0.0	.	248;248;208;217;217;248	O15488-6;O15488-4;O15488-3;A8K8Y1;O15488-2;O15488	.;.;.;.;.;GLYG2_HUMAN	E	217;248;248;248	ENSP00000381786:G217E;ENSP00000370555:G248E;ENSP00000341273:G248E;ENSP00000446092:G248E	ENSP00000341273:G248E	G	+	2	0	GYG2	2787919	1.000000	0.71417	0.609000	0.28983	0.067000	0.16453	6.924000	0.75823	1.500000	0.48636	0.529000	0.55759	GGG		0.498	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918	
SCML1	6322	hgsc.bcm.edu	37	X	17764155	17764155	+	Silent	SNP	T	T	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:17764155T>A	ENST00000380041.3	+	4	463	c.135T>A	c.(133-135)tcT>tcA	p.S45S	SCML1_ENST00000380045.3_5'UTR|SCML1_ENST00000398080.1_5'UTR|SCML1_ENST00000380043.3_Silent_p.S18S	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	45					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					ATATTGTATCTGACGCATCCT	0.373																																																	0			X											156.0	147.0	150.0					X																	17764155		2203	4300	6503	17674076	SO:0001819	synonymous_variant	6322				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.135T>A	X.37:g.17764155T>A			17674076	B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	ENST00000380041.3	37	CCDS35210.1																																																																																				0.373	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746	
MAP3K15	389840	hgsc.bcm.edu	37	X	19379458	19379458	+	Splice_Site	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:19379458G>A	ENST00000338883.4	-	28	3855	c.3856C>T	c.(3856-3858)Cgg>Tgg	p.R1286W	PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Splice_Site_p.R721W|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Splice_Site_p.R1118W|PDHA1_ENST00000540249.1_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1286							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GGCTCTTACCGTAGTCGAAGG	0.388																																																	0			X											53.0	44.0	47.0					X																	19379458		2203	4300	6503	19289379	SO:0001630	splice_region_variant	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3857+1C>T	X.37:g.19379458G>A			19289379	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	G	15.61	2.884901	0.51908	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	D;D;D	0.88586	-2.4;-2.4;-2.4	5.91	3.21	0.36854	Sterile alpha motif/pointed domain (1);	0.000000	0.64402	U	0.000005	D	0.93625	0.7964	M	0.87900	2.915	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91385	0.5130	10	0.87932	D	0	.	6.13	0.20199	0.1404:0.0:0.5944:0.2652	.	761;1286	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	W	1286;721;1118	ENSP00000345629:R1286W;ENSP00000352093:R721W;ENSP00000428356:R1118W	ENSP00000345629:R1286W	R	-	1	2	MAP3K15	19289379	1.000000	0.71417	0.474000	0.27266	0.526000	0.34562	3.155000	0.50700	0.250000	0.21479	-0.237000	0.12165	CGG		0.388	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671	Missense_Mutation
IL1RAPL1	11141	hgsc.bcm.edu	37	X	29973736	29973736	+	Silent	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:29973736C>T	ENST00000378993.1	+	11	2563	c.1890C>T	c.(1888-1890)taC>taT	p.Y630Y	IL1RAPL1_ENST00000302196.4_Silent_p.Y630Y	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	630	Interaction with NCS1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.Y630Y(1)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCTATGAGTACGACGTACCTC	0.517																																																	1	Substitution - coding silent(1)	large_intestine(1)	X											91.0	44.0	60.0					X																	29973736		2202	4300	6502	29883657	SO:0001819	synonymous_variant	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1890C>T	X.37:g.29973736C>T			29883657	A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	CCDS14218.1																																																																																				0.517	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
MAGEB2	4113	hgsc.bcm.edu	37	X	30237240	30237240	+	Silent	SNP	C	C	T	rs140291899		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:30237240C>T	ENST00000378988.4	+	2	644	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	181	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						ACACCTTCATCGACAAGGTAG	0.502																																																	0			X											55.0	44.0	47.0					X																	30237240		2202	4299	6501	30147161	SO:0001819	synonymous_variant	4113			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.543C>T	X.37:g.30237240C>T			30147161	O75860	Silent	SNP	ENST00000378988.4	37	CCDS14219.1																																																																																				0.502	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364	
CXorf36	79742	hgsc.bcm.edu	37	X	45017022	45017022	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:45017022C>T	ENST00000398000.2	-	3	684	c.610G>A	c.(610-612)Gac>Aac	p.D204N	CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	204						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						TTGTCACGGTCGGTGAAGTGG	0.647																																																	0			X											48.0	43.0	45.0					X																	45017022		1567	3574	5141	44901966	SO:0001583	missense	79742			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.610G>A	X.37:g.45017022C>T	ENSP00000381086:p.Asp204Asn		44901966	A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	37	CCDS48096.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686369	0.68157	.	.	ENSG00000147113	ENST00000398000	T	0.32515	1.45	4.8	4.8	0.61643	.	0.222920	0.36482	N	0.002573	T	0.44540	0.1298	M	0.76002	2.32	0.80722	D	1	D	0.54397	0.966	P	0.48166	0.569	T	0.53244	-0.8466	10	0.59425	D	0.04	.	17.1375	0.86743	0.0:1.0:0.0:0.0	.	204	Q9H7Y0	CX036_HUMAN	N	204	ENSP00000381086:D204N	ENSP00000381086:D204N	D	-	1	0	CXorf36	44901966	1.000000	0.71417	0.107000	0.21349	0.620000	0.37586	5.240000	0.65378	1.967000	0.57214	0.429000	0.28392	GAC		0.647	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689	
RGN	9104	hgsc.bcm.edu	37	X	46951191	46951191	+	Missense_Mutation	SNP	G	G	A	rs138412897	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:46951191G>A	ENST00000352078.4	+	5	1022	c.677G>A	c.(676-678)cGt>cAt	p.R226H	RGN_ENST00000457380.1_Missense_Mutation_p.R154H|RGN_ENST00000336169.3_Missense_Mutation_p.R226H|RGN_ENST00000397180.1_Missense_Mutation_p.R226H	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin	226					cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						AGAGTGATTCGTTTAGATCCT	0.438																																																	0			X											136.0	116.0	123.0					X																	46951191		2203	4300	6503	46836135	SO:0001583	missense	9104			D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"""senescence marker protein-30"", ""gluconolactonase"""	300212	"""regucalcin (senescence marker protein-30)"""			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.677G>A	X.37:g.46951191G>A	ENSP00000253303:p.Arg226His		46836135	A4FTW1|A8K271|Q53FC9|Q5JRR5	Missense_Mutation	SNP	ENST00000352078.4	37	CCDS14272.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593148	0.66219	.	.	ENSG00000130988	ENST00000397180;ENST00000457380;ENST00000352078;ENST00000336169	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	6.02	5.14	0.70334	SMP-30/Gluconolaconase/LRE-like region (1);Six-bladed beta-propeller, TolB-like (1);	0.211612	0.49916	D	0.000135	T	0.46268	0.1384	M	0.85777	2.775	0.58432	D	0.999998	D;D	0.56968	0.978;0.962	B;B	0.41202	0.35;0.268	T	0.59721	-0.7401	10	0.66056	D	0.02	-5.8202	16.2128	0.82178	0.0:0.1294:0.8706:0.0	.	154;226	Q15493-2;Q15493	.;RGN_HUMAN	H	226;154;226;226	ENSP00000380365:R226H;ENSP00000406568:R154H;ENSP00000253303:R226H;ENSP00000338400:R226H	ENSP00000338400:R226H	R	+	2	0	RGN	46836135	1.000000	0.71417	0.623000	0.29173	0.702000	0.40608	5.556000	0.67307	1.259000	0.44117	0.591000	0.81541	CGT		0.438	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056385.1	NM_004683	
HUWE1	10075	hgsc.bcm.edu	37	X	53616547	53616547	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:53616547G>C	ENST00000342160.3	-	35	4878	c.4421C>G	c.(4420-4422)gCa>gGa	p.A1474G	HUWE1_ENST00000218328.8_Missense_Mutation_p.A1474G|HUWE1_ENST00000262854.6_Missense_Mutation_p.A1474G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1474					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACGATAATCTGCTCCATTACG	0.478																																																	0			X											219.0	178.0	192.0					X																	53616547		2203	4300	6503	53633272	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4421C>G	X.37:g.53616547G>C	ENSP00000340648:p.Ala1474Gly		53633272	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.740387|2.740387	0.49045|0.49045	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328|ENST00000427052	T;T;T|.	0.45276|.	1.21;1.21;0.9|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Armadillo-like helical (1);|.	0.133058|.	0.51477|.	D|.	0.000094|.	T|T	0.46425|0.46425	0.1392|0.1392	N|N	0.08118|0.08118	0|0	0.46954|0.46954	D|D	0.999268|0.999268	P;P|.	0.46220|.	0.801;0.874|.	B;B|.	0.40477|.	0.258;0.33|.	T|T	0.43909|0.43909	-0.9362|-0.9362	10|5	0.21540|.	T|.	0.41|.	.|.	17.9436|17.9436	0.89032|0.89032	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1474;1474|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	G|R	1474|507	ENSP00000340648:A1474G;ENSP00000262854:A1474G;ENSP00000218328:A1474G|.	ENSP00000218328:A1474G|.	A|S	-|-	2|3	0|2	HUWE1|HUWE1	53633272|53633272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.483000|9.483000	0.97937|0.97937	2.513000|2.513000	0.84729|0.84729	0.600000|0.600000	0.82982|0.82982	GCA|AGC		0.478	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
AMER1	139285	hgsc.bcm.edu	37	X	63412110	63412110	+	Nonsense_Mutation	SNP	G	G	A	rs137852216		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:63412110G>A	ENST00000330258.3	-	2	1329	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	AMER1_ENST00000403336.1_Nonsense_Mutation_p.R353*|AMER1_ENST00000374869.3_Nonsense_Mutation_p.R353*	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	353					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.R353*(6)									GTCCCATCTCGGTTTGCTCTC	0.522																																																	73	Whole gene deletion(67)|Substitution - Nonsense(6)	kidney(69)|large_intestine(3)|ovary(1)	X	GRCh37	CM090021	FAM123B	M	rs137852216						155.0	137.0	143.0					X																	63412110		2203	4300	6503	63328835	SO:0001587	stop_gained	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1057C>T	X.37:g.63412110G>A	ENSP00000329117:p.Arg353*		63328835	A2IB86|Q8N885	Nonsense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	39	7.320143	0.98210	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	.	.	.	5.18	2.27	0.28462	.	0.134606	0.49305	D	0.000153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3649	9.2932	0.37800	0.0:0.1375:0.572:0.2905	.	.	.	.	X	353	.	ENSP00000329117:R353X	R	-	1	2	FAM123B	63328835	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	0.950000	0.29122	0.228000	0.21019	0.529000	0.55759	CGA		0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
AMER1	139285	hgsc.bcm.edu	37	X	63412932	63412932	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:63412932T>C	ENST00000330258.3	-	2	507	c.235A>G	c.(235-237)Aaa>Gaa	p.K79E	AMER1_ENST00000403336.1_Missense_Mutation_p.K79E|AMER1_ENST00000374869.3_Missense_Mutation_p.K79E	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	79					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CCAGAACCTTTGCTCCGTCCC	0.532																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	X											124.0	96.0	106.0					X																	63412932		2203	4300	6503	63329657	SO:0001583	missense	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.235A>G	X.37:g.63412932T>C	ENSP00000329117:p.Lys79Glu		63329657	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822139	0.71028	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.54479	0.57;0.58;0.57	4.59	4.59	0.56863	.	0.110948	0.64402	D	0.000013	T	0.63698	0.2533	M	0.73217	2.22	0.35803	D	0.823254	D	0.63046	0.992	P	0.54889	0.763	T	0.75816	-0.3184	10	0.72032	D	0.01	-15.4925	12.5155	0.56030	0.0:0.0:0.0:1.0	.	79	Q5JTC6	F123B_HUMAN	E	79	ENSP00000364003:K79E;ENSP00000329117:K79E;ENSP00000384722:K79E	ENSP00000329117:K79E	K	-	1	0	FAM123B	63329657	1.000000	0.71417	0.998000	0.56505	0.733000	0.41908	5.713000	0.68415	2.018000	0.59344	0.486000	0.48141	AAA		0.532	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
SLC25A53	401612	hgsc.bcm.edu	37	X	103349343	103349343	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:103349343G>T	ENST00000357421.4	-	2	778	c.598C>A	c.(598-600)Cag>Aag	p.Q200K		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	200					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											AGGCCATCCTGGATGGGGTCC	0.557																																																	0			X											60.0	64.0	62.0					X																	103349343		2203	4300	6503	103235999	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.598C>A	X.37:g.103349343G>T	ENSP00000361681:p.Gln200Lys		103235999	B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	g	0.047	-1.262223	0.01445	.	.	ENSG00000176274	ENST00000357421	T	0.72942	-0.7	4.18	3.28	0.37604	Mitochondrial carrier domain (2);	0.397969	0.22328	N	0.061516	T	0.30510	0.0767	N	0.00599	-1.345	0.26540	N	0.974102	B	0.11235	0.004	B	0.11329	0.006	T	0.37126	-0.9719	10	0.02654	T	1	-7.2573	8.4342	0.32778	0.0:0.0:0.5774:0.4225	.	200	Q5H9E4	MCAR6_HUMAN	K	200	ENSP00000361681:Q200K	ENSP00000361681:Q200K	Q	-	1	0	MCART6	103235999	0.225000	0.23685	1.000000	0.80357	0.991000	0.79684	1.485000	0.35519	0.846000	0.35142	0.594000	0.82650	CAG		0.557	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755	
RGAG1	57529	hgsc.bcm.edu	37	X	109694990	109694990	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:109694990C>G	ENST00000465301.2	+	3	1391	c.1145C>G	c.(1144-1146)tCt>tGt	p.S382C	RGAG1_ENST00000540313.1_Missense_Mutation_p.S382C	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	382										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AATGTAGACTCTGAAATGATG	0.542																																																	0			X											172.0	178.0	176.0					X																	109694990		2203	4300	6503	109581646	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1145C>G	X.37:g.109694990C>G	ENSP00000419786:p.Ser382Cys		109581646	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603492	0.66445	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.57752	0.38;0.38	4.28	4.28	0.50868	.	0.679439	0.12217	N	0.488771	T	0.58323	0.2114	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.63113	0.911	T	0.49634	-0.8919	9	.	.	.	-0.6536	13.5825	0.61911	0.0:1.0:0.0:0.0	.	382	Q8NET4	RGAG1_HUMAN	C	382	ENSP00000419786:S382C;ENSP00000441452:S382C	.	S	+	2	0	RGAG1	109581646	0.345000	0.24835	0.009000	0.14445	0.264000	0.26372	3.768000	0.55295	2.373000	0.80994	0.600000	0.82982	TCT		0.542	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
PAK3	5063	hgsc.bcm.edu	37	X	110463671	110463671	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:110463671G>A	ENST00000372010.1	+	19	2118	c.1676G>A	c.(1675-1677)cGc>cAc	p.R559H	PAK3_ENST00000425146.1_Missense_Mutation_p.R544H|PAK3_ENST00000446737.1_Missense_Mutation_p.R544H|PAK3_ENST00000417227.1_Missense_Mutation_p.R565H|PAK3_ENST00000360648.4_Missense_Mutation_p.R580H|PAK3_ENST00000372007.5_Missense_Mutation_p.R544H|PAK3_ENST00000519681.1_Missense_Mutation_p.R565H|PAK3_ENST00000262836.4_Missense_Mutation_p.R559H|PAK3_ENST00000518291.1_Missense_Mutation_p.R580H			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	559					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACAGCAGCCGCTAAGACTGC	0.448										TSP Lung(19;0.15)																																							0			X											41.0	36.0	38.0					X																	110463671		2203	4300	6503	110350327	SO:0001583	missense	8874			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1676G>A	X.37:g.110463671G>A	ENSP00000361080:p.Arg559His		110350327	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956313	0.92726	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.73681	-0.69;-0.69;-0.7;-0.77;-0.69;-0.72;-0.72;-0.77;-0.7	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78407	0.4278	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.77004	0.938;0.967;0.976;0.989	T	0.81986	-0.0681	10	0.87932	D	0	.	19.7362	0.96205	0.0:0.0:1.0:0.0	.	565;580;559;544	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	H	544;544;559;565;544;580;580;565;559	ENSP00000410853:R544H;ENSP00000401982:R544H;ENSP00000361080:R559H;ENSP00000429113:R565H;ENSP00000361077:R544H;ENSP00000428921:R580H;ENSP00000353864:R580H;ENSP00000389172:R565H;ENSP00000262836:R559H	ENSP00000262836:R559H	R	+	2	0	PAK3	110350327	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.564000	0.82326	2.618000	0.88619	0.600000	0.82982	CGC		0.448	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578	
DCX	1641	hgsc.bcm.edu	37	X	110653620	110653620	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:110653620G>A	ENST00000338081.3	-	2	421	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F	DCX_ENST00000488120.1_Missense_Mutation_p.L3F|DCX_ENST00000356220.3_Missense_Mutation_p.L3F|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.L3F|DCX_ENST00000356915.2_Missense_Mutation_p.L3F	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	84					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CCAAAATCAAGTTCCATATTT	0.493																																																	0			X											88.0	81.0	83.0					X																	110653620		2203	4300	6503	110540276	SO:0001583	missense	1641			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.250C>T	X.37:g.110653620G>A	ENSP00000337697:p.Leu84Phe		110540276	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016856	0.75161	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	T;T;T;T;T;T	0.52057	1.57;1.57;1.35;1.57;1.57;0.68	5.37	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	N	0.08118	0	0.50039	D	0.999845	D;P	0.59357	0.985;0.568	P;B	0.57009	0.811;0.302	T	0.52909	-0.8512	10	0.87932	D	0	.	13.0652	0.59030	0.0785:0.0:0.9214:0.0	.	72;84	B4DM53;O43602	.;DCX_HUMAN	F	3;3;84;3;3;3	ENSP00000349385:L3F;ENSP00000361061:L3F;ENSP00000337697:L84F;ENSP00000348553:L3F;ENSP00000419861:L3F;ENSP00000418811:L3F	ENSP00000337697:L84F	L	-	1	0	DCX	110540276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.808000	0.86044	1.238000	0.43771	0.513000	0.50165	CTT		0.493	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153	
WDR44	54521	hgsc.bcm.edu	37	X	117576246	117576246	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:117576246A>G	ENST00000254029.3	+	16	2601	c.2206A>G	c.(2206-2208)Aga>Gga	p.R736G	WDR44_ENST00000371822.5_Missense_Mutation_p.R647G|WDR44_ENST00000371825.3_Missense_Mutation_p.R736G	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	736						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.R736G(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CCGATCTACTAGAGGGCGCAA	0.363																																																	1	Substitution - Missense(1)	lung(1)	X											145.0	138.0	140.0					X																	117576246		2203	4300	6503	117460274	SO:0001583	missense	54521			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.2206A>G	X.37:g.117576246A>G	ENSP00000254029:p.Arg736Gly		117460274	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.194334|4.194334	0.78902|0.78902	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825;ENST00000318919|ENST00000371848	T;T;T|.	0.81415|.	-1.49;-0.42;-0.3|.	5.43|5.43	5.43|5.43	0.79202|0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77184|.	0.4093|.	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.998;1.0;1.0;0.999|.	D;D;D;D|.	0.91635|.	0.982;0.982;0.999;0.978|.	T|.	0.79366|.	-0.1833|.	10|.	0.87932|.	D|.	0|.	-19.4569|-19.4569	14.5295|14.5295	0.67915|0.67915	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	647;736;736;736|.	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3|.	.;.;.;WDR44_HUMAN|.	G|W	647;736;736;122|635	ENSP00000360887:R647G;ENSP00000254029:R736G;ENSP00000360890:R736G|.	ENSP00000254029:R736G|.	R|X	+|+	1|2	2|0	WDR44|WDR44	117460274|117460274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.772000|0.772000	0.43724|0.43724	8.671000|8.671000	0.91174|0.91174	1.811000|1.811000	0.52892|0.52892	0.427000|0.427000	0.28365|0.28365	AGA|TAG		0.363	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045	
TENM1	10178	hgsc.bcm.edu	37	X	124030055	124030055	+	Missense_Mutation	SNP	A	A	G	rs151298344		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:124030055A>G	ENST00000371130.3	-	2	316	c.253T>C	c.(253-255)Tct>Cct	p.S85P	TENM1_ENST00000422452.2_Missense_Mutation_p.S85P	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	85	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGGTAGCCAGAGCACAGAGTG	0.463																																																	0			X						A	PRO/SER,PRO/SER,PRO/SER	3,3832		0,3,1629,571	134.0	116.0	122.0		253,253,253	4.3	1.0	X	dbSNP_134	122	0,6728		0,0,2428,1872	no	missense,missense,missense	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	74,74,74	0,3,4057,2443	GG,GA,AA,A		0.0,0.0782,0.0284	benign,benign,benign	85/2733,85/2732,85/2726	124030055	3,10560	2203	4300	6503	123857736	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.253T>C	X.37:g.124030055A>G	ENSP00000360171:p.Ser85Pro		123857736	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000462	0.35320	7.82E-4	0.0	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.33865	1.39;1.39	5.56	4.32	0.51571	Teneurin intracellular, N-terminal (2);	0.179213	0.35772	N	0.002982	T	0.29850	0.0746	L	0.43152	1.355	0.43522	D	0.995799	P;P;P	0.42123	0.771;0.771;0.771	B;B;B	0.39805	0.31;0.31;0.31	T	0.06698	-1.0812	10	0.45353	T	0.12	.	9.6893	0.40118	0.739:0.0:0.0:0.261	.	85;85;85	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	P	85	ENSP00000360171:S85P;ENSP00000403954:S85P	ENSP00000360171:S85P	S	-	1	0	ODZ1	123857736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.933000	0.48948	1.972000	0.57404	0.486000	0.48141	TCT		0.463	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
ATP11C	286410	hgsc.bcm.edu	37	X	138813814	138813814	+	Nonstop_Mutation	SNP	T	T	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:138813814T>A	ENST00000327569.3	-	29	3496	c.3398A>T	c.(3397-3399)tAa>tTa	p.*1133L	ATP11C_ENST00000361648.2_Intron|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Intron	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	0					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGGTACCTGTTACAATACATT	0.363																																																	0			X											108.0	99.0	102.0					X																	138813814		2203	4299	6502	138641480	SO:0001578	stop_lost	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3398A>T	X.37:g.138813814T>A			138641480	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832089	0.50845	.	.	ENSG00000101974	ENST00000327569	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7301	0.57193	0.0:0.0:0.0:1.0	.	.	.	.	L	1133	.	.	X	-	2	2	ATP11C	138641480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.104000	0.64584	1.942000	0.56320	0.483000	0.47432	TAA		0.363	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
MAGEA10	4109	hgsc.bcm.edu	37	X	151303091	151303091	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:151303091C>G	ENST00000370323.4	-	4	1318	c.1002G>C	c.(1000-1002)ttG>ttC	p.L334F	MAGEA10_ENST00000244096.3_Missense_Mutation_p.L334F|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	334						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCATCTTTCAAAGCCTCCT	0.488																																																	0			X											183.0	156.0	165.0					X																	151303091		2203	4300	6503	151053747	SO:0001583	missense	4109				CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.1002G>C	X.37:g.151303091C>G	ENSP00000359347:p.Leu334Phe		151053747		Missense_Mutation	SNP	ENST00000370323.4	37	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786030	0.31593	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.02787	4.16;4.16	2.6	0.717	0.18196	.	0.706510	0.12428	N	0.469765	T	0.03739	0.0106	M	0.75264	2.295	0.09310	N	1	P	0.36577	0.558	B	0.31751	0.135	T	0.35649	-0.9780	10	0.66056	D	0.02	.	2.8416	0.05531	0.2707:0.5634:0.0:0.1659	.	334	P43363	MAGAA_HUMAN	F	334	ENSP00000359347:L334F;ENSP00000244096:L334F	ENSP00000244096:L334F	L	-	3	2	MAGEA10	151053747	0.002000	0.14202	0.001000	0.08648	0.828000	0.46876	-0.127000	0.10547	0.065000	0.16485	0.292000	0.19580	TTG		0.488	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048	
FAM50A	9130	hgsc.bcm.edu	37	X	153674896	153674896	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:153674896A>G	ENST00000393600.3	+	4	540	c.430A>G	c.(430-432)Atg>Gtg	p.M144V		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	144					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAGGAGGAGATGGAAAGGGA	0.627																																																	0			X											75.0	49.0	58.0					X																	153674896		2195	4290	6485	153328090	SO:0001583	missense	9130			BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9928 expressed sequence"""	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.430A>G	X.37:g.153674896A>G	ENSP00000377225:p.Met144Val		153328090	A8KAQ4|B2R997|Q5HY37|Q6PJH5	Missense_Mutation	SNP	ENST00000393600.3	37	CCDS14751.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.402903	0.25291	.	.	ENSG00000071859	ENST00000393600;ENST00000158526	.	.	.	5.27	3.48	0.39840	.	1.246750	0.05468	N	0.552468	T	0.30634	0.0771	N	0.22421	0.69	0.20926	N	0.999823	B	0.02656	0.0	B	0.01281	0.0	T	0.24941	-1.0146	9	0.30078	T	0.28	-3.0724	7.1865	0.25803	0.1707:0.7381:0.0:0.0912	.	144	Q14320	FA50A_HUMAN	V	144;104	.	ENSP00000158526:M104V	M	+	1	0	FAM50A	153328090	1.000000	0.71417	0.982000	0.44146	0.963000	0.63663	0.736000	0.26130	0.429000	0.26202	-0.344000	0.07964	ATG		0.627	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081643.2	NM_004699	
TMLHE	55217	hgsc.bcm.edu	37	X	154743709	154743709	+	Silent	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:154743709T>C	ENST00000334398.3	-	4	721	c.576A>G	c.(574-576)gtA>gtG	p.V192V	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Silent_p.V192V	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	192					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	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)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGACATTTTCTACGAATGCAA	0.408																																																	0			X											127.0	115.0	119.0					X																	154743709		2203	4300	6503	154396903	SO:0001819	synonymous_variant	55217			AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.576A>G	X.37:g.154743709T>C			154396903	A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Silent	SNP	ENST00000334398.3	37	CCDS14768.1																																																																																				0.408	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196	
PGM2	55276	hgsc.bcm.edu	37	4	37851852	37851852	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr4:37851852A>G	ENST00000381967.4	+	12	1560	c.1460A>G	c.(1459-1461)cAa>cGa	p.Q487R	PGM2_ENST00000537241.1_Missense_Mutation_p.Q327R	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	487					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TGCCATGATCAAGAAACCATT	0.318																																																	0			4											50.0	54.0	53.0					4																	37851852		2203	4299	6502	37528247	SO:0001583	missense	55276			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1460A>G	4.37:g.37851852A>G	ENSP00000371393:p.Gln487Arg		37528247	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790828	0.31685	.	.	ENSG00000169299	ENST00000381967;ENST00000537241	T;T	0.29142	1.58;1.58	5.53	2.97	0.34412	.	0.164709	0.56097	D	0.000033	T	0.33235	0.0856	M	0.71296	2.17	0.48341	D	0.999637	B	0.25048	0.117	B	0.21546	0.035	T	0.11446	-1.0587	10	0.46703	T	0.11	-11.5949	12.9966	0.58650	0.5896:0.4104:0.0:0.0	.	487	Q96G03	PGM2_HUMAN	R	487;327	ENSP00000371393:Q487R;ENSP00000437342:Q327R	ENSP00000371393:Q487R	Q	+	2	0	PGM2	37528247	0.997000	0.39634	0.898000	0.35279	0.724000	0.41520	1.050000	0.30404	0.345000	0.23873	0.528000	0.53228	CAA		0.318	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290	
H2AFZ	3015	hgsc.bcm.edu	37	4	100870498	100870499	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T|G	T|G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr4:100870498_100870499TG>AT	ENST00000296417.5	-	3	343_344	c.126_127CA>AT	c.(124-129)acCAgt>acATgt	p.S43C	DNAJB14_ENST00000442697.2_5'Flank|RP11-15B17.1_ENST00000501976.2_RNA|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000471738.1_5'Flank|RP11-15B17.1_ENST00000514624.1_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	43					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CGTCCATGACTGGTCGTCCTAG	0.49											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			4																																								101089521|101089522	SO:0001583	missense	3015			X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.126_127delinsAT	4.37:g.100870498_100870499delinsAT	ENSP00000296417:p.Ser43Cys	1354	101089521|101089522	B2RD56|P17317|Q6I9U0	Missense_Mutation|Silent	SNP	ENST00000296417.5	37	CCDS3654.1																																																																																				0.490	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106	
TRAM1L1	133022	hgsc.bcm.edu	37	4	118005715	118005715	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr4:118005715A>G	ENST00000310754.4	-	1	1021	c.835T>C	c.(835-837)Tcg>Ccg	p.S279P		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	279	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CGATTCTGCGATCCAGCCAGG	0.458																																																	0			4											82.0	74.0	77.0					4																	118005715		2203	4300	6503	118225163	SO:0001583	missense	133022			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.835T>C	4.37:g.118005715A>G	ENSP00000309402:p.Ser279Pro		118225163	Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.314349	0.23908	.	.	ENSG00000174599	ENST00000310754	D	0.84873	-1.91	3.37	1.29	0.21616	TRAM/LAG1/CLN8 homology domain (3);	0.875430	0.09906	N	0.740465	T	0.80844	0.4701	N	0.24115	0.695	0.09310	N	1	B	0.32071	0.355	B	0.43838	0.433	T	0.71213	-0.4659	10	0.46703	T	0.11	-20.573	9.2283	0.37421	0.4738:0.5262:0.0:0.0	.	279	Q8N609	TR1L1_HUMAN	P	279	ENSP00000309402:S279P	ENSP00000309402:S279P	S	-	1	0	TRAM1L1	118225163	0.003000	0.15002	0.000000	0.03702	0.430000	0.31655	0.534000	0.23098	0.301000	0.22738	0.528000	0.53228	TCG		0.458	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402	
QRFPR	84109	hgsc.bcm.edu	37	4	122250833	122250833	+	Missense_Mutation	SNP	T	T	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr4:122250833T>G	ENST00000394427.2	-	6	1343	c.932A>C	c.(931-933)aAg>aCg	p.K311T	QRFPR_ENST00000334383.5_3'UTR|Y_RNA_ENST00000384419.1_RNA	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	311					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AAAAATCATCTTGATTGTGAC	0.264																																																	0			4											31.0	31.0	31.0					4																	122250833		2201	4297	6498	122470283	SO:0001583	missense	84109			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.932A>C	4.37:g.122250833T>G	ENSP00000377948:p.Lys311Thr		122470283		Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.541034	0.45280	.	.	ENSG00000186867	ENST00000394427	T	0.72282	-0.64	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.046090	0.85682	D	0.000000	T	0.70107	0.3186	N	0.21324	0.655	0.80722	D	1	D	0.63046	0.992	P	0.58013	0.831	T	0.68277	-0.5451	10	0.26408	T	0.33	.	15.5292	0.75942	0.0:0.0:0.0:1.0	.	311	Q96P65	QRFPR_HUMAN	T	311	ENSP00000377948:K311T	ENSP00000377948:K311T	K	-	2	0	QRFPR	122470283	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.763000	0.68818	2.076000	0.62316	0.402000	0.26972	AAG		0.264	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179	
ANKRD50	57182	hgsc.bcm.edu	37	4	125590230	125590230	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr4:125590230T>C	ENST00000504087.1	-	4	5239	c.4202A>G	c.(4201-4203)gAg>gGg	p.E1401G	ANKRD50_ENST00000515641.1_Missense_Mutation_p.E1222G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1401								p.E1401V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TAATTCTGTCTCTGAGGAAGG	0.413																																																	1	Substitution - Missense(1)	central_nervous_system(1)	4											127.0	116.0	120.0					4																	125590230		2203	4300	6503	125809680	SO:0001583	missense	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.4202A>G	4.37:g.125590230T>C	ENSP00000425658:p.Glu1401Gly		125809680	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774898	0.49786	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.69806	-0.43;-0.39	5.35	5.35	0.76521	.	0.116058	0.64402	D	0.000020	T	0.53610	0.1807	N	0.19112	0.55	0.39158	D	0.962351	B	0.20261	0.043	B	0.14578	0.011	T	0.55309	-0.8161	10	0.59425	D	0.04	.	15.5138	0.75806	0.0:0.0:0.0:1.0	.	1401	Q9ULJ7	ANR50_HUMAN	G	1401;1222	ENSP00000425658:E1401G;ENSP00000425355:E1222G	ENSP00000425658:E1401G	E	-	2	0	ANKRD50	125809680	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	5.544000	0.67231	2.250000	0.74265	0.454000	0.30748	GAG		0.413	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
HSPA4L	22824	hgsc.bcm.edu	37	4	128717033	128717033	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr4:128717033G>T	ENST00000296464.4	+	3	687	c.276G>T	c.(274-276)caG>caT	p.Q92H	HSPA4L_ENST00000439123.2_Missense_Mutation_p.Q123H|HSPA4L_ENST00000505726.1_Missense_Mutation_p.Q66H|HSPA4L_ENST00000508776.1_Missense_Mutation_p.Q92H	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	92					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ATGAACTGCAGAAAATGCCTA	0.373																																																	0			4											100.0	98.0	99.0					4																	128717033		2203	4300	6503	128936483	SO:0001583	missense	22824			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.276G>T	4.37:g.128717033G>T	ENSP00000296464:p.Gln92His		128936483	A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671893	0.29693	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01527	5.44;5.44;5.44;4.8;5.44	4.75	2.11	0.27256	.	0.066901	0.64402	D	0.000010	T	0.01558	0.0050	N	0.22421	0.69	0.36158	D	0.84793	B;B;B	0.13145	0.003;0.002;0.007	B;B;B	0.14023	0.01;0.008;0.005	T	0.51340	-0.8718	10	0.59425	D	0.04	.	8.2102	0.31479	0.3076:0.0:0.6924:0.0	.	66;92;92	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	H	92;123;92;92;66	ENSP00000422482:Q92H;ENSP00000393926:Q123H;ENSP00000296464:Q92H;ENSP00000427305:Q92H;ENSP00000425645:Q66H	ENSP00000296464:Q92H	Q	+	3	2	HSPA4L	128936483	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	0.652000	0.24888	0.241000	0.21283	-0.373000	0.07131	CAG		0.373	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278	
FRG1	2483	hgsc.bcm.edu	37	4	190883032	190883032	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr4:190883032A>G	ENST00000226798.4	+	8	907	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	229					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGAAGACAGTAAAATTCTTAA	0.323																																																	0			4											78.0	96.0	90.0					4																	190883032		2159	4225	6384	191120026	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.685A>G	4.37:g.190883032A>G	ENSP00000226798:p.Lys229Glu		191120026	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.337633	0.24253	.	.	ENSG00000109536	ENST00000226798;ENST00000524583	T	0.35236	1.32	3.89	3.89	0.44902	.	0.311639	0.35970	N	0.002862	T	0.32912	0.0845	L	0.54323	1.7	0.36681	D	0.879026	B	0.18741	0.03	B	0.20767	0.031	T	0.32375	-0.9909	10	0.36615	T	0.2	0.2056	11.0282	0.47757	1.0:0.0:0.0:0.0	.	229	Q14331	FRG1_HUMAN	E	229;101	ENSP00000226798:K229E	ENSP00000226798:K229E	K	+	1	0	FRG1	191120026	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.303000	0.51858	1.541000	0.49316	0.392000	0.25879	AAA		0.323	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
PNO1	56902	hgsc.bcm.edu	37	2	68385614	68385614	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:68385614G>A	ENST00000263657.2	+	2	401	c.310G>A	c.(310-312)Gga>Aga	p.G104R	RP11-474G23.1_ENST00000406334.3_Intron|WDR92_ENST00000409164.1_5'Flank|WDR92_ENST00000295121.6_5'Flank|WDR92_ENST00000406245.2_5'Flank|WDR92_ENST00000492039.2_5'Flank	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	104						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						GGAACATTTGGGACTTCAGAT	0.383																																					NSCLC(83;642 1410 13044 32832 40058)												0			2											104.0	104.0	104.0					2																	68385614		2203	4300	6503	68239118	SO:0001583	missense	56902			AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"""RNA binding protein"""		"""KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1"""	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.310G>A	2.37:g.68385614G>A	ENSP00000263657:p.Gly104Arg		68239118	A8K6Q0|Q53G13|Q8WVB8	Missense_Mutation	SNP	ENST00000263657.2	37	CCDS1885.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919197	0.33908	.	.	ENSG00000115946	ENST00000263657	T	0.39406	1.08	6.03	6.03	0.97812	.	0.100288	0.64402	D	0.000001	T	0.34919	0.0914	L	0.34521	1.04	0.49798	D	0.999827	B	0.09022	0.002	B	0.08055	0.003	T	0.05402	-1.0887	10	0.48119	T	0.1	-10.5022	14.8676	0.70427	0.0:0.2506:0.7494:0.0	.	104	Q9NRX1	PNO1_HUMAN	R	104	ENSP00000263657:G104R	ENSP00000263657:G104R	G	+	1	0	PNO1	68239118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.735000	0.74806	2.861000	0.98227	0.655000	0.94253	GGA		0.383	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143	
TLX2	3196	hgsc.bcm.edu	37	2	74742120	74742120	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:74742120G>A	ENST00000233638.7	+	1	510	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	TLX2_ENST00000497238.1_Intron	NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	63	Gly-rich.				enteric nervous system development (GO:0048484)|mesoderm formation (GO:0001707)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|ovary(1)	2						CTACGGTCCCGCCGGCTCACT	0.756																																					Esophageal Squamous(7;240 533 18610 24312)												0			2											9.0	6.0	7.0					2																	74742120		2093	4138	6231	74595628	SO:0001583	missense	3196			AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297		"""Homeoboxes / ANTP class : NKL subclass"""	5057	protein-coding gene	gene with protein product		604240	"""homeo box 11-like 1"", ""T-cell leukemia, homeobox 2"""	HOX11L1		10343123	Standard	NM_016170		Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.187G>A	2.37:g.74742120G>A	ENSP00000233638:p.Ala63Thr		74595628	Q9UD56|Q9UQ48	Missense_Mutation	SNP	ENST00000233638.7	37	CCDS1947.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381065	0.24944	.	.	ENSG00000115297	ENST00000233638	D	0.89810	-2.57	4.22	1.03	0.20045	.	0.389995	0.18936	N	0.127079	D	0.82472	0.5044	L	0.58101	1.795	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.66106	-0.6006	10	0.23891	T	0.37	.	5.2923	0.15733	0.2033:0.0:0.6238:0.1729	.	63	O43763	TLX2_HUMAN	T	63	ENSP00000233638:A63T	ENSP00000233638:A63T	A	+	1	0	TLX2	74595628	0.017000	0.18338	0.026000	0.17262	0.523000	0.34469	0.577000	0.23758	0.417000	0.25871	0.561000	0.74099	GCC		0.756	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252224.3		
GLI2	2736	hgsc.bcm.edu	37	2	121740365	121740365	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:121740365A>C	ENST00000452319.1	+	11	1652	c.1592A>C	c.(1591-1593)aAg>aCg	p.K531T	GLI2_ENST00000314490.11_Missense_Mutation_p.K203T|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.K531T					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACCGGGGAGAAGCCATATGTG	0.602																																																	0			2											65.0	60.0	62.0					2																	121740365		2203	4300	6503	121456835	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1592A>C	2.37:g.121740365A>C	ENSP00000390436:p.Lys531Thr		121456835		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813793	0.90790	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.42131	0.98;0.98;0.98	4.39	4.39	0.52855	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.046780	0.85682	D	0.000000	T	0.65595	0.2706	M	0.81112	2.525	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.992	T	0.71758	-0.4496	10	0.87932	D	0	.	14.0429	0.64687	1.0:0.0:0.0:0.0	.	531;514;186;186;203	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	T	531;531;203	ENSP00000390436:K531T;ENSP00000354586:K531T;ENSP00000312694:K203T	ENSP00000312694:K203T	K	+	2	0	GLI2	121456835	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.075000	0.94004	1.966000	0.57179	0.397000	0.26171	AAG		0.602	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	
TNFAIP6	7130	hgsc.bcm.edu	37	2	152235986	152235986	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:152235986A>C	ENST00000243347.3	+	6	848	c.773A>C	c.(772-774)aAt>aCt	p.N258T		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	258					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	CAAGGAAAAAATACAAGTACT	0.333																																																	0			2											87.0	94.0	92.0					2																	152235986		2203	4300	6503	151944232	SO:0001583	missense	7130				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.773A>C	2.37:g.152235986A>C	ENSP00000243347:p.Asn258Thr		151944232	Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178532	0.57692	.	.	ENSG00000123610	ENST00000243347	T	0.18502	2.21	5.56	5.56	0.83823	.	0.055949	0.64402	D	0.000002	T	0.27524	0.0676	L	0.29908	0.895	0.46564	D	0.999103	D	0.63880	0.993	D	0.70935	0.971	T	0.04165	-1.0972	10	0.15066	T	0.55	.	15.3597	0.74460	1.0:0.0:0.0:0.0	.	258	P98066	TSG6_HUMAN	T	258	ENSP00000243347:N258T	ENSP00000243347:N258T	N	+	2	0	TNFAIP6	151944232	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	4.606000	0.61126	2.099000	0.63709	0.533000	0.62120	AAT		0.333	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115	
NEB	4703	hgsc.bcm.edu	37	2	152484275	152484275	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:152484275T>C	ENST00000172853.10	-	65	9323	c.9176A>G	c.(9175-9177)aAg>aGg	p.K3059R	NEB_ENST00000397345.3_Missense_Mutation_p.K3302R|NEB_ENST00000603639.1_Missense_Mutation_p.K3302R|NEB_ENST00000604864.1_Missense_Mutation_p.K3302R|NEB_ENST00000409198.1_Missense_Mutation_p.K3059R|NEB_ENST00000427231.2_Missense_Mutation_p.K3302R			P20929	NEBU_HUMAN	nebulin	3059					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCACATCATCTTGGGGTCATC	0.473																																																	0			2											285.0	267.0	273.0					2																	152484275		1919	4131	6050	152192521	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9176A>G	2.37:g.152484275T>C	ENSP00000172853:p.Lys3059Arg		152192521	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	20.9	4.073850	0.76415	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.58	5.58	0.84498	.	0.122957	0.56097	D	0.000026	T	0.64023	0.2561	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.62020	-0.6942	10	0.35671	T	0.21	.	15.759	0.78063	0.0:0.0:0.0:1.0	.	3059	P20929	NEBU_HUMAN	R	3059;3302;3302;3059	ENSP00000386259:K3059R;ENSP00000380505:K3302R;ENSP00000416578:K3302R;ENSP00000172853:K3059R	ENSP00000172853:K3059R	K	-	2	0	NEB	152192521	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.033000	0.70925	2.121000	0.65114	0.533000	0.62120	AAG		0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
CACNB4	785	hgsc.bcm.edu	37	2	152830189	152830189	+	Intron	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:152830189C>T	ENST00000539935.1	-	3	215				CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000427385.1_Intron|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000397327.2_5'UTR|CACNB4_ENST00000360283.6_Silent_p.S13S|CACNB4_ENST00000534999.1_Silent_p.S13S	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTACAGCCTCCGAGTCTTCAA	0.463																																																	0			2											72.0	71.0	71.0					2																	152830189		1864	4106	5970	152538435	SO:0001627	intron_variant	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.148-90305G>A	2.37:g.152830189C>T			152538435	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP	ENST00000539935.1	37	CCDS46426.1																																																																																				0.463	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3	
PKP4	8502	hgsc.bcm.edu	37	2	159481794	159481794	+	Silent	SNP	G	G	A	rs200934987		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:159481794G>A	ENST00000389759.3	+	7	1120	c.1008G>A	c.(1006-1008)tcG>tcA	p.S336S	PKP4_ENST00000389757.3_Silent_p.S336S	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	336				S -> V (in Ref. 1; CAA57478). {ECO:0000305}.	cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.S336S(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TGGGGTCGTCGTCCCCCAAAC	0.592										HNSCC(62;0.18)																																							1	Substitution - coding silent(1)	ovary(1)	2											70.0	63.0	66.0					2																	159481794		2203	4300	6503	159190040	SO:0001819	synonymous_variant	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1008G>A	2.37:g.159481794G>A			159190040	Q86W91	Silent	SNP	ENST00000389759.3	37	CCDS33305.1																																																																																				0.592	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		
SCN3A	6328	hgsc.bcm.edu	37	2	165986535	165986535	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:165986535T>C	ENST00000360093.3	-	17	3328	c.2837A>G	c.(2836-2838)gAg>gGg	p.E946G	SCN3A_ENST00000409101.3_Missense_Mutation_p.E897G|SCN3A_ENST00000283254.7_Missense_Mutation_p.E946G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	946					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E946G(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCACATGGTCTCTATCCACTC	0.488																																																	1	Substitution - Missense(1)	breast(1)	2											163.0	158.0	160.0					2																	165986535		2203	4298	6501	165694781	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2837A>G	2.37:g.165986535T>C	ENSP00000353206:p.Glu946Gly		165694781	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	T	32	5.150303	0.94645	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.64402	D	0.000011	D	0.98071	0.9364	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.995;0.991;0.991;1.0	D	0.99236	1.0883	10	0.87932	D	0	.	15.8326	0.78769	0.0:0.0:0.0:1.0	.	946;897;897;897;946	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	G	946;946;897;897	ENSP00000353206:E946G;ENSP00000283254:E946G;ENSP00000386726:E897G;ENSP00000403348:E897G	ENSP00000283254:E946G	E	-	2	0	SCN3A	165694781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.142000	0.66516	0.460000	0.39030	GAG		0.488	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
TTN	7273	hgsc.bcm.edu	37	2	179447066	179447066	+	Silent	SNP	G	G	A	rs369516025		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:179447066G>A	ENST00000591111.1	-	264	61418	c.61194C>T	c.(61192-61194)ggC>ggT	p.G20398G	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.G13099G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.G12974G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.G19471G|TTN_ENST00000589042.1_Silent_p.G22039G|TTN_ENST00000342175.6_Silent_p.G13166G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20398	Fibronectin type-III 47. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			AGACTGGATCGCCTACTCCAT	0.408																																																	0			2						G	,,,	0,3750		0,0,1875	47.0	45.0	46.0		38922,58413,39297,39498	-11.7	0.0	2		46	1,8197		0,1,4098	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5973	AA,AG,GG		0.0122,0.0,0.0084	,,,	12974/26927,19471/33424,13099/27052,13166/27119	179447066	1,11947	1875	4099	5974	179155312	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61194C>T	2.37:g.179447066G>A			179155312	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																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179452059	179452059	+	Silent	SNP	G	G	A	rs200463088		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:179452059G>A	ENST00000591111.1	-	257	59180	c.58956C>T	c.(58954-58956)gaC>gaT	p.D19652D	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.D12353D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.D12228D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.D18725D|TTN_ENST00000589042.1_Silent_p.D21293D|TTN_ENST00000342175.6_Silent_p.D12420D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19652	Fibronectin type-III 42. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GGCTCCCACCGTCGTTTTCAG	0.463																																																	0			2						G	,,,	10,3802		0,10,1896	63.0	59.0	60.0		36684,56175,37059,37260	-3.3	1.0	2		60	1,8255		0,1,4127	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,11,6023	AA,AG,GG		0.0121,0.2623,0.0912	,,,	12228/26927,18725/33424,12353/27052,12420/27119	179452059	11,12057	1906	4128	6034	179160305	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58956C>T	2.37:g.179452059G>A			179160305	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																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179459278	179459278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:179459278C>A	ENST00000591111.1	-	246	53244	c.53020G>T	c.(53020-53022)Gaa>Taa	p.E17674*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E10375*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E10250*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E16747*|TTN_ENST00000589042.1_Nonsense_Mutation_p.E19315*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E10442*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17674	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTAATAATTTCTGACCCACCA	0.403																																																	0			2											129.0	123.0	125.0					2																	179459278		1827	4091	5918	179167524	SO:0001587	stop_gained	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.53020G>T	2.37:g.179459278C>A	ENSP00000465570:p.Glu17674*		179167524	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	60	50.033692	0.99988	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	.	.	.	X	16747;10250;10442;10375;10248	.	ENSP00000340554:E10442X	E	-	1	0	TTN	179167524	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.832000	0.62759	2.854000	0.98071	0.655000	0.94253	GAA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179500354	179500354	+	Missense_Mutation	SNP	T	T	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:179500354T>G	ENST00000591111.1	-	177	36998	c.36774A>C	c.(36772-36774)aaA>aaC	p.K12258N	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K4959N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K4834N|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K11331N|TTN_ENST00000589042.1_Missense_Mutation_p.K13899N|TTN_ENST00000342175.6_Missense_Mutation_p.K5026N|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12258	Ig-like 82.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K11331K(2)|p.K4834K(1)|p.K5026K(1)|p.K4959K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGAGTATCTTTTGCTATAT	0.388																																																	5	Substitution - coding silent(5)	kidney(5)	2											101.0	87.0	91.0					2																	179500354		1826	4095	5921	179208599	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.36774A>C	2.37:g.179500354T>G	ENSP00000465570:p.Lys12258Asn		179208599	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	12.83	2.055696	0.36277	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	6.05	1.55	0.23275	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44095	0.1277	M	0.69823	2.125	0.46416	D	0.999034	P;P;P;P	0.47191	0.891;0.891;0.891;0.891	B;B;B;B	0.44044	0.318;0.318;0.318;0.439	T	0.48917	-0.8992	9	0.87932	D	0	.	10.3512	0.43937	0.0:0.6298:0.0:0.3702	.	4834;4959;5026;12258	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	11331;4834;5026;4959;4834	ENSP00000343764:K11331N;ENSP00000434586:K4834N;ENSP00000340554:K5026N;ENSP00000352154:K4959N	ENSP00000340554:K5026N	K	-	3	2	TTN	179208599	0.997000	0.39634	0.998000	0.56505	0.993000	0.82548	0.580000	0.23803	0.387000	0.25024	0.528000	0.53228	AAA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC141	285025	hgsc.bcm.edu	37	2	179809344	179809344	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:179809344A>C	ENST00000409284.1	-	6	932	c.815T>G	c.(814-816)tTa>tGa	p.L272*	CCDC141_ENST00000420890.2_Nonsense_Mutation_p.L272*			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	272										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTGTTCCTGTAAATTTCTTAT	0.313																																																	0			2																																								179517589	SO:0001587	stop_gained	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.815T>G	2.37:g.179809344A>C	ENSP00000386503:p.Leu272*		179517589	H7C0P1|J3KNW6|Q8N8H3	Nonsense_Mutation	SNP	ENST00000409284.1	37		.	.	.	.	.	.	.	.	.	.	A	36	5.777255	0.96929	.	.	ENSG00000163492	ENST00000420890;ENST00000443758;ENST00000446116;ENST00000409284	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.239	0.54532	1.0:0.0:0.0:0.0	.	.	.	.	X	272	.	.	L	-	2	0	CCDC141	179517589	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	4.784000	0.62411	1.973000	0.57446	0.528000	0.53228	TTA		0.313	CCDC141-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000335873.1	NM_173648	
ADAM23	8745	hgsc.bcm.edu	37	2	207425853	207425853	+	Splice_Site	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:207425853C>T	ENST00000264377.3	+	12	1499	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	ADAM23_ENST00000374416.1_Splice_Site_p.R391W|ADAM23_ENST00000374415.3_Splice_Site_p.R391W	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	391	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTTCTTAAGGCGGGTGACATT	0.428																																					Melanoma(194;1127 2130 19620 24042 27855)												0			2											118.0	117.0	118.0					2																	207425853		2203	4300	6503	207134098	SO:0001630	splice_region_variant	10863			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1170-1C>T	2.37:g.207425853C>T			207134098	A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600467	0.87055	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.10860	2.83;2.83;2.83	5.92	4.99	0.66335	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.222801	0.31784	N	0.007071	T	0.12518	0.0304	N	0.08118	0	0.39104	D	0.961349	D	0.55172	0.97	P	0.58928	0.848	T	0.10291	-1.0636	10	0.87932	D	0	.	11.9977	0.53212	0.2641:0.7359:0.0:0.0	.	391	O75077	ADA23_HUMAN	W	391;391;285;391	ENSP00000264377:R391W;ENSP00000363537:R391W;ENSP00000363536:R391W	ENSP00000264377:R391W	R	+	1	2	ADAM23	207134098	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.137000	0.58010	2.804000	0.96469	0.655000	0.94253	CGG		0.428	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812	Missense_Mutation
ASIC4	55515	hgsc.bcm.edu	37	2	220396733	220396733	+	Silent	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:220396733G>A	ENST00000347842.3	+	3	1133	c.1119G>A	c.(1117-1119)tcG>tcA	p.S373S	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000358078.4_Silent_p.S373S	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	373					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										ATGAGACGTCGTTTGAGGCAG	0.627																																																	0			2											117.0	125.0	122.0					2																	220396733		2203	4300	6503	220104977	SO:0001819	synonymous_variant	55515			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1119G>A	2.37:g.220396733G>A			220104977	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	CCDS2442.1																																																																																				0.627	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674	
ESPNL	339768	hgsc.bcm.edu	37	2	239040031	239040031	+	Silent	SNP	C	C	T	rs557336771		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:239040031C>T	ENST00000343063.3	+	9	2939	c.2676C>T	c.(2674-2676)caC>caT	p.H892H	ESPNL_ENST00000409506.1_Silent_p.H524H|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Silent_p.H848H	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	892										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGGCACCCACGGCTGGGAGG	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		14782	0.0		0.001	False		,,,				2504	0.0																0			2											12.0	12.0	12.0					2																	239040031		2178	4271	6449	238704770	SO:0001819	synonymous_variant	339768			AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2676C>T	2.37:g.239040031C>T			238704770	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																				0.697	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312	
TAF1L	138474	hgsc.bcm.edu	37	9	32630932	32630932	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr9:32630932T>C	ENST00000242310.4	-	1	4735	c.4646A>G	c.(4645-4647)cAc>cGc	p.H1549R	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	1549	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.		H -> Y (in a glioblastoma multiforme sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)			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)		ATTAACTGGGTGATGAAATGG	0.398																																																	0			9											125.0	118.0	120.0					9																	32630932		2203	4300	6503	32620932	SO:0001583	missense	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.4646A>G	9.37:g.32630932T>C	ENSP00000418379:p.His1549Arg		32620932	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432677	0.43224	.	.	ENSG00000122728	ENST00000242310	T	0.27402	1.67	0.489	0.489	0.16854	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	N	0.04508	-0.205	0.42291	D	0.992135	P	0.42337	0.776	B	0.40165	0.321	T	0.10917	-1.0609	10	0.27082	T	0.32	.	5.2121	0.15322	0.0:1.0E-4:0.0:0.9999	.	1549	Q8IZX4	TAF1L_HUMAN	R	1549	ENSP00000418379:H1549R	ENSP00000418379:H1549R	H	-	2	0	TAF1L	32620932	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	4.846000	0.62860	0.431000	0.26258	0.172000	0.16884	CAC		0.398	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
DNAI1	27019	hgsc.bcm.edu	37	9	34490391	34490391	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr9:34490391G>C	ENST00000242317.4	+	7	697	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	176					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GACTGAAGAAGAATTGATGAC	0.498									Kartagener syndrome																																								0			9											158.0	169.0	165.0					9																	34490391		2203	4300	6503	34480391	SO:0001583	missense	27019	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.526G>C	9.37:g.34490391G>C	ENSP00000242317:p.Glu176Gln		34480391	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285146	0.59867	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;T	0.75050	-0.9;-0.9	5.79	5.79	0.91817	.	0.166767	0.53938	D	0.000043	T	0.75391	0.3843	L	0.38531	1.155	0.80722	D	1	D	0.55172	0.97	P	0.53912	0.737	T	0.73871	-0.3846	10	0.38643	T	0.18	.	15.5341	0.75990	0.0:0.0:1.0:0.0	.	176	Q9UI46	DNAI1_HUMAN	Q	165;176;165	ENSP00000242317:E176Q;ENSP00000395396:E165Q	ENSP00000242317:E176Q	E	+	1	0	DNAI1	34480391	1.000000	0.71417	0.998000	0.56505	0.502000	0.33828	3.465000	0.53064	2.749000	0.94314	0.655000	0.94253	GAA		0.498	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1		
TRPM3	80036	hgsc.bcm.edu	37	9	73151436	73151436	+	Silent	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr9:73151436T>C	ENST00000377110.3	-	25	4800	c.4557A>G	c.(4555-4557)aaA>aaG	p.K1519K	TRPM3_ENST00000360823.2_Silent_p.K1381K|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377105.1_Silent_p.K1378K|TRPM3_ENST00000377106.1_Silent_p.K1391K|TRPM3_ENST00000423814.3_Silent_p.K1546K|TRPM3_ENST00000408909.2_Silent_p.K1378K|TRPM3_ENST00000396292.4_Silent_p.K1391K|TRPM3_ENST00000358082.3_Silent_p.K1381K|TRPM3_ENST00000357533.2_Silent_p.K1523K|TRPM3_ENST00000396285.1_Silent_p.K1378K|TRPM3_ENST00000396280.5_Silent_p.K1368K			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1544					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCTATGAGATTTCACAATGG	0.463																																																	0			9											102.0	110.0	107.0					9																	73151436		2203	4300	6503	72341256	SO:0001819	synonymous_variant	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4557A>G	9.37:g.73151436T>C			72341256	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377110.3	37	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	T	3.206	-0.162751	0.06502	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.9	-1.14	0.09741	.	.	.	.	.	T	0.57829	0.2080	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52909	-0.8512	4	.	.	.	-23.5125	11.3931	0.49825	0.0:0.5004:0.0:0.4996	.	.	.	.	V	1368	.	.	I	-	1	0	TRPM3	72341256	0.752000	0.28338	0.593000	0.28771	0.934000	0.57294	-0.181000	0.09740	-0.440000	0.07211	0.533000	0.62120	ATC		0.463	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945	
DAPK1	1612	hgsc.bcm.edu	37	9	90312050	90312050	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr9:90312050A>G	ENST00000408954.3	+	22	2877	c.2542A>G	c.(2542-2544)Atc>Gtc	p.I848V	DAPK1_ENST00000358077.5_Missense_Mutation_p.I848V|DAPK1_ENST00000491893.1_Intron|DAPK1_ENST00000472284.1_Missense_Mutation_p.I848V|DAPK1_ENST00000469640.2_Missense_Mutation_p.I848V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	848					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCCCTATGAGATCCAGCTGAA	0.458									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0			9											174.0	164.0	167.0					9																	90312050		1904	4133	6037	89501870	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2542A>G	9.37:g.90312050A>G	ENSP00000386135:p.Ile848Val		89501870	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	A	9.624	1.134582	0.21123	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.65	5.65	0.86999	.	0.000000	0.52532	D	0.000067	T	0.08626	0.0214	N	0.16903	0.455	0.45979	D	0.998794	B	0.18461	0.028	B	0.16722	0.016	T	0.08411	-1.0723	10	0.05721	T	0.95	.	15.7104	0.77623	1.0:0.0:0.0:0.0	.	848	P53355	DAPK1_HUMAN	V	848	ENSP00000350785:I848V;ENSP00000417076:I848V;ENSP00000418885:I848V;ENSP00000386135:I848V	ENSP00000350785:I848V	I	+	1	0	DAPK1	89501870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.069000	0.93967	2.371000	0.80710	0.533000	0.62120	ATC		0.458	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
ZNF169	169841	hgsc.bcm.edu	37	9	97062462	97062462	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr9:97062462G>C	ENST00000395395.2	+	5	712	c.622G>C	c.(622-624)Gaa>Caa	p.E208Q	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGACACTTCAGAATCTGGAGC	0.512																																																	0			9											61.0	56.0	58.0					9																	97062462		2203	4300	6503	96102283	SO:0001583	missense	169841			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.622G>C	9.37:g.97062462G>C	ENSP00000378792:p.Glu208Gln		96102283	A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	G	6.539	0.467671	0.12402	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.06933	3.24	2.44	1.35	0.21983	.	.	.	.	.	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	P	0.37955	0.612	B	0.33042	0.157	T	0.40979	-0.9534	9	0.22706	T	0.39	.	4.005	0.09597	0.2713:0.0:0.7287:0.0	.	208	Q14929	ZN169_HUMAN	Q	208;17	ENSP00000378792:E208Q	ENSP00000340711:E17Q	E	+	1	0	ZNF169	96102283	0.000000	0.05858	0.108000	0.21378	0.622000	0.37654	0.329000	0.19698	0.449000	0.26747	0.505000	0.49811	GAA		0.512	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320	
PTBP3	9991	hgsc.bcm.edu	37	9	115060128	115060128	+	Silent	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr9:115060128A>G	ENST00000374255.2	-	3	258	c.111T>C	c.(109-111)ccT>ccC	p.P37P	PTBP3_ENST00000374257.1_Silent_p.P6P|PTBP3_ENST00000487997.1_Intron|PTBP3_ENST00000334318.6_Silent_p.P37P|PTBP3_ENST00000343327.2_5'UTR|PTBP3_ENST00000458258.1_Silent_p.P43P			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	37					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CACCTGTAGAAGGAGTAGAAC	0.318																																																	0			9											95.0	99.0	98.0					9																	115060128		2203	4300	6503	114099949	SO:0001819	synonymous_variant	9991			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.111T>C	9.37:g.115060128A>G			114099949	B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Silent	SNP	ENST00000374255.2	37	CCDS6784.1																																																																																				0.318	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1		
OR1L1	26737	hgsc.bcm.edu	37	9	125424242	125424242	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr9:125424242T>C	ENST00000373686.1	+	1	398	c.398T>C	c.(397-399)gTg>gCg	p.V133A	OR1L1_ENST00000309623.1_Missense_Mutation_p.V83A			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AAGATGCTGGTGAACTTCTTA	0.438																																																	0			9											192.0	187.0	188.0					9																	125424242		2203	4300	6503	124464063	SO:0001583	missense	26737				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.398T>C	9.37:g.125424242T>C	ENSP00000362790:p.Val133Ala		124464063	Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37		.	.	.	.	.	.	.	.	.	.	T	0.989	-0.694754	0.03303	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.01947	4.54;4.54	3.11	-4.62	0.03370	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01156	0.0038	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.48490	-0.9031	9	0.17832	T	0.49	.	5.8432	0.18645	0.2819:0.4891:0.0:0.229	.	133	Q8NH94	OR1L1_HUMAN	A	133;83	ENSP00000362790:V133A;ENSP00000310773:V83A	ENSP00000310773:V83A	V	+	2	0	OR1L1	124464063	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.624000	0.02038	-1.263000	0.02455	-0.736000	0.03550	GTG		0.438	OR1L1-201	KNOWN	basic	protein_coding	protein_coding			
XPO4	64328	hgsc.bcm.edu	37	13	21357920	21357920	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr13:21357920A>G	ENST00000255305.6	-	23	3468	c.3397T>C	c.(3397-3399)Ttc>Ctc	p.F1133L	XPO4_ENST00000400602.2_Missense_Mutation_p.F1133L			Q9C0E2	XPO4_HUMAN	exportin 4	1133					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CTCTTTAAGAAGGCCATCTTC	0.408																																																	0			13											162.0	155.0	157.0					13																	21357920		1979	4164	6143	20255920	SO:0001583	missense	64328			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.3397T>C	13.37:g.21357920A>G	ENSP00000255305:p.Phe1133Leu		20255920	Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.899538	0.91962	.	.	ENSG00000132953	ENST00000400602;ENST00000255305	T;T	0.68903	-0.36;-0.36	5.84	5.84	0.93424	.	0.102150	0.64402	D	0.000002	D	0.82360	0.5020	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84676	0.0714	10	0.87932	D	0	-8.5206	16.2302	0.82332	1.0:0.0:0.0:0.0	.	1133	Q9C0E2	XPO4_HUMAN	L	1133	ENSP00000383444:F1133L;ENSP00000255305:F1133L	ENSP00000255305:F1133L	F	-	1	0	XPO4	20255920	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	8.954000	0.93051	2.228000	0.72767	0.533000	0.62120	TTC		0.408	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459	
ATP12A	479	hgsc.bcm.edu	37	13	25264509	25264509	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr13:25264509A>G	ENST00000381946.3	+	6	747	c.580A>G	c.(580-582)Acc>Gcc	p.T194A	ATP12A_ENST00000218548.6_Missense_Mutation_p.T194A			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	194					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CGAGAAGAAGACCATCCCTTC	0.567																																					Pancreas(156;1582 1935 18898 22665 26498)												0			13											119.0	113.0	115.0					13																	25264509		2203	4300	6503	24162509	SO:0001583	missense	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.580A>G	13.37:g.25264509A>G	ENSP00000371372:p.Thr194Ala		24162509	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	A	3.748	-0.052116	0.07362	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.91686	-2.89;-2.89	4.74	-6.64	0.01801	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	1.697610	0.03175	N	0.171294	D	0.92734	0.7690	M	0.87381	2.88	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.12837	0.008;0.008	T	0.76913	-0.2783	10	0.27082	T	0.32	.	18.5701	0.91132	0.1929:0.0:0.8071:0.0	.	194;194	P54707-2;P54707	.;AT12A_HUMAN	A	194	ENSP00000218548:T194A;ENSP00000371372:T194A	ENSP00000218548:T194A	T	+	1	0	ATP12A	24162509	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.052000	0.11865	-1.330000	0.02255	-0.263000	0.10527	ACC		0.567	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
MYCBP2	23077	hgsc.bcm.edu	37	13	77695607	77695607	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr13:77695607A>T	ENST00000544440.2	-	55	7944	c.7927T>A	c.(7927-7929)Tct>Act	p.S2643T	MYCBP2_ENST00000407578.2_Missense_Mutation_p.S2681T|MYCBP2_ENST00000360084.5_Missense_Mutation_p.S106T|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2643T					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGAGTTTGAGAATTCTGATCC	0.403																																																	0			13											82.0	82.0	82.0					13																	77695607		2203	4300	6503	76593608	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7927T>A	13.37:g.77695607A>T	ENSP00000444596:p.Ser2643Thr		76593608		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	A	12.41	1.929282	0.34096	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.43688	1.62;1.62;1.62;0.94	5.47	1.44	0.22558	.	0.500335	0.22661	N	0.057196	T	0.25195	0.0612	L	0.29908	0.895	0.24347	N	0.994936	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20371	-1.0277	10	0.14252	T	0.57	.	8.4488	0.32858	0.5542:0.3694:0.0764:0.0	.	2643;2643	O75592-2;O75592	.;MYCB2_HUMAN	T	2643;2681;2643;106	ENSP00000349892:S2643T;ENSP00000384288:S2681T;ENSP00000444596:S2643T;ENSP00000353197:S106T	ENSP00000349892:S2643T	S	-	1	0	MYCBP2	76593608	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.075000	0.41538	0.358000	0.24211	0.460000	0.39030	TCT		0.403	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
ARHGEF7	8874	hgsc.bcm.edu	37	13	111862239	111862239	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr13:111862239T>C	ENST00000375741.2	+	5	671	c.421T>C	c.(421-423)Tcc>Ccc	p.S141P	ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.S38P|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.S91P|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.S120P	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	141					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGGGAGTGACTCCGTGTGTGC	0.522																																																	0			13											221.0	221.0	221.0					13																	111862239		2203	4300	6503	110660240	SO:0001583	missense	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.421T>C	13.37:g.111862239T>C	ENSP00000364893:p.Ser141Pro		110660240	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.894104	0.52121	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000545635;ENST00000426768;ENST00000375737	T;T;T;T;T	0.53640	0.63;0.61;0.61;0.86;0.62	5.39	5.39	0.77823	Calponin homology domain (1);	0.055102	0.85682	D	0.000000	T	0.50446	0.1616	L	0.27053	0.805	0.80722	D	1	B;D;P;P	0.59357	0.005;0.985;0.729;0.823	B;P;B;P	0.56916	0.007;0.809;0.284;0.477	T	0.47586	-0.9106	10	0.36615	T	0.2	.	15.6936	0.77477	0.0:0.0:0.0:1.0	.	38;91;141;120	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	P	120;141;91;118;38;38	ENSP00000325994:S120P;ENSP00000364893:S141P;ENSP00000364891:S91P;ENSP00000389890:S38P;ENSP00000364889:S38P	ENSP00000325994:S120P	S	+	1	0	ARHGEF7	110660240	1.000000	0.71417	0.998000	0.56505	0.332000	0.28634	4.449000	0.60034	2.162000	0.67917	0.533000	0.62120	TCC		0.522	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511	
PITRM1	10531	hgsc.bcm.edu	37	10	3207667	3207667	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr10:3207667C>G	ENST00000224949.4	-	5	505	c.471G>C	c.(469-471)caG>caC	p.Q157H	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.Q157H|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.Q125H			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	157					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						AGAGGAGATTCTGAAAGTCCT	0.363																																																	0			10											100.0	102.0	102.0					10																	3207667		1837	4084	5921	3197667	SO:0001583	missense	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.471G>C	10.37:g.3207667C>G	ENSP00000224949:p.Gln157His		3197667	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	c	14.51	2.557344	0.45590	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.18016	2.24;2.24;2.24	5.37	3.47	0.39725	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.159849	0.56097	D	0.000025	T	0.12518	0.0304	N	0.21142	0.635	0.37109	D	0.900277	B;B;B;B;B;B	0.21381	0.028;0.017;0.026;0.032;0.032;0.055	B;B;B;B;B;B	0.28305	0.015;0.057;0.034;0.088;0.088;0.088	T	0.11131	-1.0600	10	0.49607	T	0.09	.	9.955	0.41661	0.0:0.7843:0.0:0.2157	.	150;125;157;157;157;150	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	H	157;150;157;125	ENSP00000224949:Q157H;ENSP00000370377:Q157H;ENSP00000401201:Q125H	ENSP00000224949:Q157H	Q	-	3	2	PITRM1	3197667	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.339000	0.43965	1.235000	0.43724	0.586000	0.80456	CAG		0.363	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2		
GRID1	2894	hgsc.bcm.edu	37	10	87487712	87487712	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr10:87487712A>T	ENST00000327946.7	-	10	1518	c.1433T>A	c.(1432-1434)cTg>cAg	p.L478Q	GRID1_ENST00000536331.1_Missense_Mutation_p.L49Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	478					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TTTAAAGCCCAGAGCCTTGGC	0.537										Multiple Myeloma(13;0.14)																																							0			10											174.0	167.0	169.0					10																	87487712		2203	4300	6503	87477692	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1433T>A	10.37:g.87487712A>T	ENSP00000330148:p.Leu478Gln		87477692	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645409	0.87859	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.41400	1.0;1.0	5.7	5.7	0.88788	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.067535	0.64402	D	0.000009	T	0.61350	0.2340	M	0.77406	2.37	0.80722	D	1	D	0.57257	0.979	P	0.57468	0.821	T	0.66956	-0.5792	10	0.87932	D	0	.	15.1306	0.72520	1.0:0.0:0.0:0.0	.	478	Q9ULK0	GRID1_HUMAN	Q	478;49	ENSP00000330148:L478Q;ENSP00000444455:L49Q	ENSP00000330148:L478Q	L	-	2	0	GRID1	87477692	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	9.323000	0.96364	2.170000	0.68504	0.491000	0.48974	CTG		0.537	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
PTEN	5728	hgsc.bcm.edu	37	10	89624300	89624300	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr10:89624300T>C	ENST00000371953.3	+	1	1431	c.74T>C	c.(73-75)tTg>tCg	p.L25S	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	25	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.?(13)|p.D24_L25del(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)		GACTTAGACTTGACCTGTATC	0.458		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"""	51	Whole gene deletion(37)|Unknown(13)|Deletion - In frame(1)	prostate(14)|central_nervous_system(10)|skin(7)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	10											163.0	155.0	158.0					10																	89624300		2203	4300	6503	89614280	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.74T>C	10.37:g.89624300T>C	ENSP00000361021:p.Leu25Ser		89614280	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.510116	0.85282	.	.	ENSG00000171862	ENST00000371953	D	0.98792	-5.14	5.28	5.28	0.74379	Phosphatase tensin type (1);	0.164389	0.41605	D	0.000848	D	0.98346	0.9451	M	0.90870	3.155	0.80722	D	1	P	0.47191	0.891	B	0.41412	0.356	D	0.98638	1.0674	9	.	.	.	-0.0822	14.1807	0.65572	0.0:0.0:0.0:1.0	.	25	P60484	PTEN_HUMAN	S	25	ENSP00000361021:L25S	.	L	+	2	0	PTEN	89614280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.216000	0.77974	1.996000	0.58369	0.459000	0.35465	TTG		0.458	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
KIF20B	9585	hgsc.bcm.edu	37	10	91497203	91497203	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr10:91497203C>G	ENST00000371728.3	+	20	2670	c.2605C>G	c.(2605-2607)Ccg>Gcg	p.P869A	KIF20B_ENST00000260753.4_Missense_Mutation_p.P829A|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.P899A|KIF20B_ENST00000394289.2_Missense_Mutation_p.P869A	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	869					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGAAGTGCGACCGAACATTGC	0.318																																																	0			10											48.0	55.0	53.0					10																	91497203		2202	4293	6495	91487183	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2605C>G	10.37:g.91497203C>G	ENSP00000360793:p.Pro869Ala		91487183	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	C	0.072	-1.201267	0.01581	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.65364	-0.1;-0.15;-0.14;-0.07	5.5	-1.57	0.08506	.	1.011510	0.07941	N	0.979309	T	0.33089	0.0851	N	0.03608	-0.345	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.004	T	0.20207	-1.0282	10	0.11485	T	0.65	6.2784	9.0622	0.36442	0.1105:0.2886:0.5362:0.0646	.	869;829	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	A	829;899;869;869	ENSP00000260753:P829A;ENSP00000411545:P899A;ENSP00000377830:P869A;ENSP00000360793:P869A	ENSP00000260753:P829A	P	+	1	0	KIF20B	91487183	0.000000	0.05858	0.005000	0.12908	0.282000	0.26991	-0.954000	0.03873	-0.620000	0.05641	0.591000	0.81541	CCG		0.318	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
IDE	3416	hgsc.bcm.edu	37	10	94234621	94234621	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr10:94234621T>C	ENST00000265986.6	-	17	2149	c.2093A>G	c.(2092-2094)gAt>gGt	p.D698G	IDE_ENST00000371581.5_Missense_Mutation_p.D143G|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	698					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.D698A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TTTTAACTCATCTTTAGTCCA	0.393																																																	1	Substitution - Missense(1)	ovary(1)	10											93.0	92.0	93.0					10																	94234621		2203	4300	6503	94224601	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2093A>G	10.37:g.94234621T>C	ENSP00000265986:p.Asp698Gly		94224601	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.326565	0.60743	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.31769	1.48;1.48	5.65	5.65	0.86999	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.174186	0.49305	D	0.000153	T	0.36441	0.0967	M	0.70275	2.135	0.58432	D	0.999999	B;B	0.29571	0.249;0.154	B;B	0.33254	0.095;0.16	T	0.13176	-1.0519	10	0.30078	T	0.28	-11.9137	14.109	0.65111	0.0:0.0:0.0:1.0	.	698;143	P14735;B3KSB8	IDE_HUMAN;.	G	698;143	ENSP00000265986:D698G;ENSP00000360637:D143G	ENSP00000265986:D698G	D	-	2	0	IDE	94224601	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	7.936000	0.87665	2.154000	0.67381	0.477000	0.44152	GAT		0.393	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969	
CC2D2B	387707	hgsc.bcm.edu	37	10	97791678	97791678	+	Silent	SNP	A	A	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr10:97791678A>G	ENST00000344386.3	+	9	1046	c.882A>G	c.(880-882)gaA>gaG	p.E294E	ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.E373E|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|CC2D2B_ENST00000371198.2_3'UTR	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	294								p.E294D(1)		large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CCCAGACAGAATTTGCTTTAG	0.393																																																	1	Substitution - Missense(1)	ovary(1)	10											155.0	138.0	143.0					10																	97791678		1849	4101	5950	97781668	SO:0001819	synonymous_variant	387707			BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.882A>G	10.37:g.97791678A>G			97781668	A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Silent	SNP	ENST00000344386.3	37	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788037	0.31593	.	.	ENSG00000188649	ENST00000410012	.	.	.	6.04	1.25	0.21368	.	.	.	.	.	T	0.69531	0.3121	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69213	-0.5204	5	0.87932	D	0	.	10.7126	0.45993	0.6877:0.0:0.3123:0.0	.	.	.	.	S	374	.	ENSP00000386988:N374S	N	+	2	0	CC2D2B	97781668	1.000000	0.71417	0.998000	0.56505	0.117000	0.20001	2.138000	0.42140	-0.039000	0.13602	-2.026000	0.00426	AAT		0.393	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732	
SLIT1	6585	hgsc.bcm.edu	37	10	98773528	98773528	+	Missense_Mutation	SNP	G	G	A	rs371409196		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr10:98773528G>A	ENST00000266058.4	-	30	3418	c.3173C>T	c.(3172-3174)gCc>gTc	p.A1058V	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.A1058V	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1058	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CACACACTGGGCCTCGTGTTG	0.622																																																	0			10						G	VAL/ALA	1,3871		0,1,1935	59.0	46.0	50.0		3173	3.3	0.6	10		50	0,7234		0,0,3617	no	missense	SLIT1	NM_003061.2	64	0,1,5552	AA,AG,GG		0.0,0.0258,0.0090	benign	1058/1535	98773528	1,11105	1936	3617	5553	98763518	SO:0001583	missense	6586			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3173C>T	10.37:g.98773528G>A	ENSP00000266058:p.Ala1058Val		98763518	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355746	0.61293	2.58E-4	0.0	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.94376	-3.41;-3.41	4.28	3.35	0.38373	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.053925	0.85682	D	0.000000	D	0.91573	0.7338	M	0.64260	1.97	0.80722	D	1	P	0.39717	0.684	B	0.38378	0.272	D	0.91334	0.5092	10	0.87932	D	0	.	14.0485	0.64719	0.0:0.1525:0.8475:0.0	.	1058	O75093	SLIT1_HUMAN	V	1058	ENSP00000266058:A1058V;ENSP00000360109:A1058V	ENSP00000266058:A1058V	A	-	2	0	SLIT1	98763518	1.000000	0.71417	0.565000	0.28409	0.700000	0.40528	6.769000	0.74985	0.982000	0.38575	0.561000	0.74099	GCC		0.622	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	
APC	324	hgsc.bcm.edu	37	5	112170652	112170652	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr5:112170652C>A	ENST00000457016.1	+	15	2128	c.1748C>A	c.(1747-1749)tCa>tAa	p.S583*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.S583*|APC_ENST00000508376.2_Nonsense_Mutation_p.S583*			P25054	APC_HUMAN	adenomatous polyposis coli	583	Leu-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.?(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)		TACTAGGAATCAACCCTCAAA	0.338		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"""	1	Unknown(1)	skin(1)	5											131.0	114.0	120.0					5																	112170652		2202	4300	6502	112198551	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.1748C>A	5.37:g.112170652C>A	ENSP00000413133:p.Ser583*		112198551	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	7.115723	0.98074	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5639	20.3409	0.98764	0.0:1.0:0.0:0.0	.	.	.	.	X	583;565;583;583;583	.	ENSP00000257430:S583X	S	+	2	0	APC	112198551	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.487000	0.81328	2.814000	0.96858	0.655000	0.94253	TCA		0.338	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175936	112175936	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr5:112175936C>A	ENST00000457016.1	+	16	5025	c.4645C>A	c.(4645-4647)Caa>Aaa	p.Q1549K	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.Q1549K|APC_ENST00000508376.2_Missense_Mutation_p.Q1549K			P25054	APC_HUMAN	adenomatous polyposis coli	1549	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.Q1549*(1)|p.K1192fs*3(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)		AAATGAAAACCAAGAGAAAGA	0.328		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"""	3	Substitution - Nonsense(1)|Unknown(1)|Deletion - Frameshift(1)	stomach(1)|soft_tissue(1)|skin(1)	5											77.0	84.0	82.0					5																	112175936		2202	4300	6502	112203835	SO:0001583	missense	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.4645C>A	5.37:g.112175936C>A	ENSP00000413133:p.Gln1549Lys		112203835	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	1.094	-0.663105	0.03428	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.88664	-2.41;-2.41;-2.41	6.16	4.2	0.49525	.	0.408875	0.29737	N	0.011337	T	0.80763	0.4685	N	0.17474	0.49	0.28631	N	0.907666	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.65907	-0.6054	9	.	.	.	-1.4961	17.2532	0.87048	0.2393:0.7607:0.0:0.0	.	1551;1549	Q4LE70;P25054	.;APC_HUMAN	K	1549	ENSP00000413133:Q1549K;ENSP00000257430:Q1549K;ENSP00000427089:Q1549K	.	Q	+	1	0	APC	112203835	0.123000	0.22298	1.000000	0.80357	0.981000	0.71138	1.683000	0.37638	1.591000	0.50007	0.650000	0.86243	CAA		0.328	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
IK	3550	hgsc.bcm.edu	37	5	140038633	140038633	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr5:140038633C>T	ENST00000417647.2	+	12	1199	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	354	17 X 2 AA tandem repeats of R-[ED].				cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			agacagagaccgtgaccgaga	0.562																																																	0			5											81.0	94.0	90.0					5																	140038633		2156	4282	6438	140018817	SO:0001583	missense	3550			BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1060C>T	5.37:g.140038633C>T	ENSP00000396301:p.Arg354Cys		140018817	Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	37	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593589	0.86953	.	.	ENSG00000113141	ENST00000417647	T	0.19669	2.13	4.66	3.75	0.43078	.	0.285757	0.30565	N	0.009347	T	0.35970	0.0950	L	0.45352	1.415	0.58432	D	0.999994	D	0.89917	1.0	D	0.71414	0.973	T	0.07028	-1.0794	10	0.56958	D	0.05	.	12.8058	0.57612	0.1709:0.8291:0.0:0.0	.	354	Q13123	RED_HUMAN	C	354	ENSP00000396301:R354C	ENSP00000396301:R354C	R	+	1	0	IK	140018817	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	1.206000	0.32321	1.007000	0.39238	0.655000	0.94253	CGT		0.562	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083	
PCDHA11	56138	hgsc.bcm.edu	37	5	140249498	140249498	+	Silent	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr5:140249498C>T	ENST00000398640.2	+	1	810	c.810C>T	c.(808-810)gaC>gaT	p.D270D	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	270	Cadherin 3. {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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACCGAGACGAAGGAGTCA	0.388																																																	0			5											34.0	34.0	34.0					5																	140249498		1925	4142	6067	140229682	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.810C>T	5.37:g.140249498C>T			140229682	B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																				0.388	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
PCDHGB6	56100	hgsc.bcm.edu	37	5	140788328	140788328	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr5:140788328G>A	ENST00000520790.1	+	1	559	c.559G>A	c.(559-561)Gat>Aat	p.D187N	PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	187	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTAATTCCGATGGTGGCAA	0.408																																																	0			5											23.0	23.0	23.0					5																	140788328		1827	4085	5912	140768512	SO:0001583	missense	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.559G>A	5.37:g.140788328G>A	ENSP00000428603:p.Asp187Asn		140768512	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	16.37	3.103141	0.56183	.	.	ENSG00000253305	ENST00000520790	T	0.19938	2.11	5.34	5.34	0.76211	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37237	0.0996	M	0.78916	2.43	0.24988	N	0.991551	D;P	0.54047	0.964;0.935	P;B	0.51385	0.668;0.329	T	0.30387	-0.9980	9	0.48119	T	0.1	.	12.0862	0.53698	0.0797:0.0:0.9203:0.0	.	187;187	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	N	187	ENSP00000428603:D187N	ENSP00000428603:D187N	D	+	1	0	PCDHGB6	140768512	1.000000	0.71417	0.784000	0.31847	0.925000	0.55904	4.867000	0.63013	2.502000	0.84385	0.467000	0.42956	GAT		0.408	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
SLC26A2	1836	hgsc.bcm.edu	37	5	149360763	149360763	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr5:149360763G>T	ENST00000286298.4	+	3	1875	c.1607G>T	c.(1606-1608)tGt>tTt	p.C536F		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	536					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GTTGGGGTTTGTTTTTCTATA	0.418																																																	0			5											123.0	131.0	129.0					5																	149360763		2203	4299	6502	149340956	SO:0001583	missense	1836			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1607G>T	5.37:g.149360763G>T	ENSP00000286298:p.Cys536Phe		149340956	A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273704	0.23221	.	.	ENSG00000155850	ENST00000286298	D	0.93307	-3.2	6.17	6.17	0.99709	.	0.370432	0.33075	N	0.005312	D	0.90198	0.6936	L	0.43152	1.355	0.35952	D	0.834009	B	0.12013	0.005	B	0.09377	0.004	D	0.87307	0.2309	10	0.31617	T	0.26	.	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	536	P50443	S26A2_HUMAN	F	536	ENSP00000286298:C536F	ENSP00000286298:C536F	C	+	2	0	SLC26A2	149340956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.653000	0.67967	2.941000	0.99782	0.655000	0.94253	TGT		0.418	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112	
ABCC8	6833	hgsc.bcm.edu	37	11	17417398	17417398	+	Splice_Site	SNP	C	C	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:17417398C>T	ENST00000389817.3	-	34	4267		c.e34+1		ABCC8_ENST00000302539.4_Splice_Site			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8						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)	TTACAACTCACCTTCGAACGT	0.617																																																	0			11											45.0	39.0	41.0					11																	17417398		2193	4283	6476	17373974	SO:0001630	splice_region_variant	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.4198+1G>A	11.37:g.17417398C>T			17373974	A6NMX8|E3UYX6|O75948|Q16583	Splice_Site	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542131	0.65198	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4271	0.90612	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCC8	17373974	1.000000	0.71417	0.998000	0.56505	0.635000	0.38103	7.818000	0.86416	2.368000	0.80403	0.484000	0.47621	.		0.617	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	Intron
SEMA4F	10505	hgsc.bcm.edu	37	2	74900583	74900583	+	Splice_Site	SNP	G	G	T			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr2:74900583G>T	ENST00000357877.2	+	6	699		c.e6-1		SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TCGCCCTGCAGGGGGGGTCCT	0.587																																																	0			2											56.0	58.0	58.0					2																	74900583		2203	4300	6503	74754091	SO:0001630	splice_region_variant	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.551-1G>T	2.37:g.74900583G>T			74754091	Q542Y7|Q9NS35	Splice_Site	SNP	ENST00000357877.2	37	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440376	0.63067	.	.	ENSG00000135622	ENST00000357877;ENST00000434486	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.999	0.58664	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEMA4F	74754091	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.635000	0.83286	2.436000	0.82500	0.456000	0.33151	.		0.587	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	Intron
ARID1A	8289	hgsc.bcm.edu	37	1	27088787	27088788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:27088787_27088788insG	ENST00000324856.7	+	7	2767_2768	c.2396_2397insG	c.(2395-2400)caggggfs	p.QG799fs	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.QG416fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.QG799fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	799					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGGTCCCCAGGGGGGTCAGT	0.554			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0			1																																								26961375	SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2402dupG	1.37:g.27088793_27088793dupG	ENSP00000320485:p.Gln799fs		26961374	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	CCDS285.1																																																																																				0.554	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
TCHH	7062	hgsc.bcm.edu	37	1	152084175	152084176	+	In_Frame_Ins	INS	-	-	TGCTGCTCGCGCCTCTCC			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:152084175_152084176insTGCTGCTCGCGCCTCTCC	ENST00000368804.1	-	2	1516_1517	c.1517_1518insGGAGAGGCGCGAGCAGCA	c.(1516-1518)caa>caGGAGAGGCGCGAGCAGCAa	p.506_506Q>QERREQQ		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	506	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGCCTTAGTTGCTGCTCGCG	0.644																																																	0			1																																								150350800	SO:0001652	inframe_insertion	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1500_1517dupGGAGAGGCGCGAGCAGCA	1.37:g.152084175_152084176insTGCTGCTCGCGCCTCTCC	ENSP00000357794:p.GluArgArgGluGlnGln506dup		150350799	Q5VUI3	In_Frame_Ins	INS	ENST00000368804.1	37	CCDS41396.1																																																																																				0.644	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
RPTN	126638	hgsc.bcm.edu	37	1	152129066	152129101	+	In_Frame_Del	DEL	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	-	rs369805852|rs78544048|rs375710188|rs368770198|rs200003389|rs117596468|rs76015112|rs199889562	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:152129066_152129101delTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	ENST00000316073.3	-	3	538_573	c.474_509delTGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCA	c.(472-510)catggtcagtctgagaaacaagacagagattcccaccac>cac	p.158_170HGQSEKQDRDSHH>H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	158	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.G159_H170delGQSEKQDRDSHH(1)|p.S168>?(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AGGCTGACTGTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCATGGTGGGAAT	0.492																																																	2	Complex(1)|Deletion - In frame(1)	stomach(1)|skin(1)	1																																								150395725	SO:0001651	inframe_deletion	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.474_509delTGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCA	1.37:g.152129066_152129101delTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	ENSP00000317895:p.His158_His169del		150395690	B7ZBZ3	In_Frame_Del	DEL	ENST00000316073.3	37	CCDS41397.1																																																																																				0.492	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312	
ZNF717	100131827	hgsc.bcm.edu	37	3	75786315	75786323	+	In_Frame_Del	DEL	CTACATTCT	CTACATTCT	-	rs146447046|rs202196860		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	CTACATTCT	CTACATTCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:75786315_75786323delCTACATTCT	ENST00000478296.1	-	4	2577_2585	c.2301_2309delAGAATGTAG	c.(2299-2310)aaagaatgtagg>aag	p.ECR768del	ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000422325.1_In_Frame_Del_p.ECR818del|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000400845.3_In_Frame_Del_p.ECR811del|ZNF717_ENST00000477374.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	808					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)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GAAGGTTTTCCTACATTCTTTACATTCAA	0.383																																																	0			3																																								75869013	SO:0001651	inframe_deletion	100131827			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.2301_2309delAGAATGTAG	3.37:g.75786315_75786323delCTACATTCT	ENSP00000419377:p.Glu768_Arg770del		75869005		In_Frame_Del	DEL	ENST00000478296.1	37																																																																																					0.383	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
MUC4	4585	hgsc.bcm.edu	37	3	195506713	195506760	+	In_Frame_Del	DEL	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	-	rs62282473|rs550221890|rs62282471|rs200597845|rs201121891|rs9882363|rs192522651|rs62282470|rs554841787|rs201914190|rs200055147|rs181895767|rs374267078|rs199635197|rs201530419|rs200381819|rs201961213	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:195506713_195506760delGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	ENST00000463781.3	-	2	12150_12197	c.11691_11738delATCCACACGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGC	c.(11689-11739)gcatccacacgtcacgccacccctcttcctgtcaccgacacttcctcagct>gct	p.3897_3913ASTRHATPLPVTDTSSA>A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.3897_3913ASTRHATPLPVTDTSSA>A|MUC4_ENST00000346145.4_Intron	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.A3902V(2)|p.P3904S(2)|p.A3902T(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)		ATCTGTGGAAGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAG	0.593																																																	5	Substitution - Missense(5)	kidney(2)|skin(2)|endometrium(1)	3							,,	327,1561		144,39,761					,,		0.0			8	1397,2107		610,177,965	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	754,216,1726	A1A1,A1R,RR		39.8687,17.3199,31.9733	,,	,,		1724,3668				196991539	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.11691_11738delATCCACACGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGC	3.37:g.195506713_195506760delGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	ENSP00000417498:p.Ala3897_Ser3912del		196991492	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																																																																																				0.593	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195508490	195508537	+	In_Frame_Del	DEL	CTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	-	rs534369822|rs199896372|rs568102602|rs531526881|rs62282476|rs201195860|rs545603027|rs541132330|rs200820395|rs150322486|rs201164988|rs141064104|rs540026448|rs148923966|rs113686997|rs146135943|rs549350827|rs202097189|rs574066429|rs374619108	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	CTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:195508490_195508537delCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENST00000463781.3	-	2	10373_10420	c.9914_9961delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAG	c.(9913-9963)gtatccacaggtcacgccactcctcttcttgtcaccgacgcttcctcagca>gca	p.VSTGHATPLLVTDASS3305del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.VSTGHATPLLVTDASS3305del|MUC4_ENST00000346145.4_Intron	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.D3317E(2)|p.A3310T(2)|p.H3309D(2)|p.V3305A(1)|p.D3317N(1)|p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)|p.L3314P(1)|p.V3305_S3320delVSTGHATPLLVTDASS(1)|p.S3317R(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)		CCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGT	0.565																																																	12	Substitution - Missense(10)|Deletion - In frame(2)	stomach(11)|kidney(1)	3							,,	1072,1522		327,418,552					,,	-2.0	0.0		dbSNP_130	14	2388,3868		646,1096,1386	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	973,1514,1938	A1A1,A1R,RR		38.1714,41.3261,39.096	,,	,,		3460,5390				196993316	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.9914_9961delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAG	3.37:g.195508490_195508537delCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENSP00000417498:p.Val3305_Ser3320del		196993269	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																																																																																				0.565	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195512550	195512597	+	In_Frame_Del	DEL	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	-	rs6799339|rs71254296|rs150659095|rs558165743|rs576374543|rs537525175|rs566422076|rs199625793|rs539429280	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:195512550_195512597delGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	ENST00000463781.3	-	2	6313_6360	c.5854_5901delCCTCTTCCTGTCACCGACGCTTCCTCAGTACCCACAGGTCACGCCACC	c.(5854-5901)cctcttcctgtcaccgacgcttcctcagtacccacaggtcacgccaccdel	p.PLPVTDASSVPTGHAT1952del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.PLPVTDASSVPTGHAT1952del|MUC4_ENST00000346145.4_Intron	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.P1952_T1967delPLPVTDASSVPTGHAT(4)|p.P1952S(1)|p.V1961V(1)|p.P1962S(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)		CAGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGA	0.601																																																	7	Deletion - In frame(4)|Substitution - Missense(2)|Substitution - coding silent(1)	stomach(4)|endometrium(3)	3																																								196996992	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.5854_5901delCCTCTTCCTGTCACCGACGCTTCCTCAGTACCCACAGGTCACGCCACC	3.37:g.195512550_195512597delGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	ENSP00000417498:p.Pro1952_Thr1967del		196996945	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																																																																																				0.601	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-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENST00000463781.3	-	2	3865_3912	c.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	c.(3406-3453)tctcttcctgtcaccgacacttcctcagtatccacaggtcacaccaccdel	p.SLPVTDTSSVSTGHTT1136del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.SLPVTDTSSVSTGHTT1136del|MUC4_ENST00000346145.4_Intron	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	
APC	324	hgsc.bcm.edu	37	5	112175931	112175931	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr5:112175931delA	ENST00000457016.1	+	16	5020	c.4640delA	c.(4639-4641)gaafs	p.E1547fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.E1547fs|APC_ENST00000508376.2_Frame_Shift_Del_p.E1547fs			P25054	APC_HUMAN	adenomatous polyposis coli	1547	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.K1192fs*3(1)|p.?(1)|p.E1547fs*13(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)		GAATCAAATGAAAACCAAGAG	0.323		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"""	3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	large_intestine(1)|soft_tissue(1)|skin(1)	5											77.0	84.0	81.0					5																	112175931		2202	4300	6502	112203830	SO:0001589	frameshift_variant	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.4640delA	5.37:g.112175931delA	ENSP00000413133:p.Glu1547fs		112203830	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.323	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
GPRIN1	114787	hgsc.bcm.edu	37	5	176026120	176026143	+	In_Frame_Del	DEL	CTCAAAGACCCAGGATCCTCCTTC	CTCAAAGACCCAGGATCCTCCTTC	-	rs3797464|rs200519605|rs386695335|rs550332435|rs77245696|rs142779818|rs371149640|rs199714570|rs373697082|rs201635586	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	CTCAAAGACCCAGGATCCTCCTTC	CTCAAAGACCCAGGATCCTCCTTC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr5:176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC	ENST00000303991.4	-	2	870_893	c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	c.(691-717)aggaaggaggatcctgggtctttgaga>aga	p.231_239RKEDPGSLR>R		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	231				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.L238L(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCACCTTTCTCAAAGACCCAGGATCCTCCTTCCTCGGTGACA	0.491																																																	1	Substitution - coding silent(1)	lung(1)	5								863,3329		131,601,1364						1.0	0.0		dbSNP_134	123	1529,6607		196,1137,2735	no	coding	GPRIN1	NM_052899.2		327,1738,4099	A1A1,A1R,RR		18.793,20.5868,19.403				2392,9936				175958749	SO:0001651	inframe_deletion	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	5.37:g.176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC	ENSP00000305839:p.Arg231_Leu238del		175958726	C9JM70|Q8ND74|Q96PZ4	In_Frame_Del	DEL	ENST00000303991.4	37	CCDS4405.1																																																																																				0.491	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899	
KMT2C	58508	hgsc.bcm.edu	37	7	151960154	151960155	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:151960154_151960155insC	ENST00000262189.6	-	9	1463_1464	c.1245_1246insG	c.(1243-1248)acttttfs	p.F416fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.F416fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	416					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)										TGAAGACAAAAAGTATGATACC	0.312																																																	0			7																																								151591088	SO:0001589	frameshift_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.1245_1246insG	7.37:g.151960154_151960155insC	ENSP00000262189:p.Phe416fs		151591087	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	ENST00000262189.6	37	CCDS5931.1																																																																																				0.312	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
MUC5B	727897	hgsc.bcm.edu	37	11	1269544	1269544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:1269544delA	ENST00000529681.1	+	31	11492	c.11434delA	c.(11434-11436)accfs	p.T3814fs	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Frame_Shift_Del_p.T3817fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3814	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTATCACAGACCACCACACC	0.627																																																	0			11								10,3416		0,10,1703	33.0	42.0	39.0			0.1	0.0	11		39	50,7272		3,44,3614	no	frameshift	MUC5B	NM_002458.2		3,54,5317	A1A1,A1R,RR		0.6829,0.2919,0.5582			1269544	60,10688	1903	4065	5968	1226120	SO:0001589	frameshift_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11434delA	11.37:g.1269544delA	ENSP00000436812:p.Thr3814fs		1226120	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Del	DEL	ENST00000529681.1	37	CCDS44515.2																																																																																				0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
ESRRA	2101	hgsc.bcm.edu	37	11	64083296	64083298	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	GGG	GGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:64083296_64083298delGGG	ENST00000405666.1	+	7	1364_1366	c.1130_1132delGGG	c.(1129-1134)cgggcg>ccg	p.377_378RA>P	ESRRA_ENST00000000442.6_In_Frame_Del_p.377_378RA>P|PRDX5_ENST00000265462.4_5'Flank|PRDX5_ENST00000352435.4_5'Flank|PRDX5_ENST00000347941.4_5'Flank|ESRRA_ENST00000406310.1_In_Frame_Del_p.376_377RA>P	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	377	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R377_A378>P(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GAGCGGCGGCGGGCGGGCAGGCT	0.69																																																	2	Complex - deletion inframe(2)	lung(2)	11								51,3601		5,41,1780						2.3	1.0			19	264,7542		4,256,3643	no	coding	ESRRA	NM_004451.3		9,297,5423	A1A1,A1R,RR		3.382,1.3965,2.7492				315,11143				63839874	SO:0001651	inframe_deletion	2101			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.1130_1132delGGG	11.37:g.64083296_64083298delGGG	ENSP00000384851:p.Arg377_Ala378delinsPro		63839872	Q14514	In_Frame_Del	DEL	ENST00000405666.1	37	CCDS41667.1																																																																																				0.690	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451	
NEFH	4744	hgsc.bcm.edu	37	22	29885567	29885568	+	In_Frame_Ins	INS	-	-	AAGTCCCCTGAGAAGGCC	rs147489453|rs559153194|rs75808076|rs59279731		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr22:29885567_29885568insAAGTCCCCTGAGAAGGCC	ENST00000310624.6	+	4	1971_1972	c.1938_1939insAAGTCCCCTGAGAAGGCC	c.(1939-1941)aag>AAGTCCCCTGAGAAGGCCaag	p.647_647K>KSPEKAK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	653	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTGA	0.569																																																	0			22								2816,1448		937,942,253						-5.3	0.0		dbSNP_134	77	5046,3206		1537,1972,617	no	coding	NEFH	NM_021076.3		2474,2914,870	A1A1,A1R,RR		38.8512,33.9587,37.1844				7862,4654				28215568	SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1939_1956dupAAGTCCCCTGAGAAGGCC	22.37:g.29885567_29885568insAAGTCCCCTGAGAAGGCC	Exception_encountered		28215567	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
F8	2157	hgsc.bcm.edu	37	X	154158428	154158428	+	Frame_Shift_Del	DEL	T	T	-	rs387906450		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:154158428delT	ENST00000360256.4	-	14	3837	c.3637delA	c.(3637-3639)attfs	p.I1213fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1213	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTCCTGAATTTTTTTTTCT	0.328																																																	0			X	GRCh37	CD930955	F8	D							26.0	25.0	25.0					X																	154158428		2203	4294	6497	153811622	SO:0001589	frameshift_variant	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3637delA	X.37:g.154158428delT	ENSP00000353393:p.Ile1213fs		153811622	Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	CCDS35457.1																																																																																				0.328	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
ARID1A	8289	hgsc.bcm.edu	37	1	27088787	27088788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:27088787_27088788insG	ENST00000324856.7	+	7	2767_2768	c.2396_2397insG	c.(2395-2400)caggggfs	p.QG799fs	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.QG416fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.QG799fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	799					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGGTCCCCAGGGGGGTCAGT	0.554			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0			1																																								26961375	SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2402dupG	1.37:g.27088793_27088793dupG	ENSP00000320485:p.Gln799fs		26961374	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	CCDS285.1																																																																																				0.554	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
TCHH	7062	hgsc.bcm.edu	37	1	152084175	152084176	+	In_Frame_Ins	INS	-	-	TGCTGCTCGCGCCTCTCC			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:152084175_152084176insTGCTGCTCGCGCCTCTCC	ENST00000368804.1	-	2	1516_1517	c.1517_1518insGGAGAGGCGCGAGCAGCA	c.(1516-1518)caa>caGGAGAGGCGCGAGCAGCAa	p.506_506Q>QERREQQ		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	506	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGCCTTAGTTGCTGCTCGCG	0.644																																																	0			1																																								150350800	SO:0001652	inframe_insertion	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1500_1517dupGGAGAGGCGCGAGCAGCA	1.37:g.152084175_152084176insTGCTGCTCGCGCCTCTCC	ENSP00000357794:p.GluArgArgGluGlnGln506dup		150350799	Q5VUI3	In_Frame_Ins	INS	ENST00000368804.1	37	CCDS41396.1																																																																																				0.644	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
RPTN	126638	hgsc.bcm.edu	37	1	152129066	152129101	+	In_Frame_Del	DEL	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	-	rs369805852|rs78544048|rs375710188|rs368770198|rs200003389|rs117596468|rs76015112|rs199889562	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr1:152129066_152129101delTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	ENST00000316073.3	-	3	538_573	c.474_509delTGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCA	c.(472-510)catggtcagtctgagaaacaagacagagattcccaccac>cac	p.158_170HGQSEKQDRDSHH>H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	158	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.G159_H170delGQSEKQDRDSHH(1)|p.S168>?(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AGGCTGACTGTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCATGGTGGGAAT	0.492																																																	2	Complex(1)|Deletion - In frame(1)	stomach(1)|skin(1)	1																																								150395725	SO:0001651	inframe_deletion	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.474_509delTGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCA	1.37:g.152129066_152129101delTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	ENSP00000317895:p.His158_His169del		150395690	B7ZBZ3	In_Frame_Del	DEL	ENST00000316073.3	37	CCDS41397.1																																																																																				0.492	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312	
ZNF717	100131827	hgsc.bcm.edu	37	3	75786315	75786323	+	In_Frame_Del	DEL	CTACATTCT	CTACATTCT	-	rs146447046|rs202196860		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	CTACATTCT	CTACATTCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:75786315_75786323delCTACATTCT	ENST00000478296.1	-	4	2577_2585	c.2301_2309delAGAATGTAG	c.(2299-2310)aaagaatgtagg>aag	p.ECR768del	ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000422325.1_In_Frame_Del_p.ECR818del|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000400845.3_In_Frame_Del_p.ECR811del|ZNF717_ENST00000477374.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	808					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)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GAAGGTTTTCCTACATTCTTTACATTCAA	0.383																																																	0			3																																								75869013	SO:0001651	inframe_deletion	100131827			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.2301_2309delAGAATGTAG	3.37:g.75786315_75786323delCTACATTCT	ENSP00000419377:p.Glu768_Arg770del		75869005		In_Frame_Del	DEL	ENST00000478296.1	37																																																																																					0.383	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
MUC4	4585	hgsc.bcm.edu	37	3	195506713	195506760	+	In_Frame_Del	DEL	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	-	rs62282473|rs550221890|rs62282471|rs200597845|rs201121891|rs9882363|rs192522651|rs62282470|rs554841787|rs201914190|rs200055147|rs181895767|rs374267078|rs199635197|rs201530419|rs200381819|rs201961213	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:195506713_195506760delGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	ENST00000463781.3	-	2	12150_12197	c.11691_11738delATCCACACGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGC	c.(11689-11739)gcatccacacgtcacgccacccctcttcctgtcaccgacacttcctcagct>gct	p.3897_3913ASTRHATPLPVTDTSSA>A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.3897_3913ASTRHATPLPVTDTSSA>A|MUC4_ENST00000346145.4_Intron	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.A3902V(2)|p.P3904S(2)|p.A3902T(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)		ATCTGTGGAAGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAG	0.593																																																	5	Substitution - Missense(5)	kidney(2)|skin(2)|endometrium(1)	3							,,	327,1561		144,39,761					,,		0.0			8	1397,2107		610,177,965	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	754,216,1726	A1A1,A1R,RR		39.8687,17.3199,31.9733	,,	,,		1724,3668				196991539	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.11691_11738delATCCACACGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGC	3.37:g.195506713_195506760delGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	ENSP00000417498:p.Ala3897_Ser3912del		196991492	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																																																																																				0.593	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195508490	195508537	+	In_Frame_Del	DEL	CTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	-	rs534369822|rs199896372|rs568102602|rs531526881|rs62282476|rs201195860|rs545603027|rs541132330|rs200820395|rs150322486|rs201164988|rs141064104|rs540026448|rs148923966|rs113686997|rs146135943|rs549350827|rs202097189|rs574066429|rs374619108	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	CTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:195508490_195508537delCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENST00000463781.3	-	2	10373_10420	c.9914_9961delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAG	c.(9913-9963)gtatccacaggtcacgccactcctcttcttgtcaccgacgcttcctcagca>gca	p.VSTGHATPLLVTDASS3305del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.VSTGHATPLLVTDASS3305del|MUC4_ENST00000346145.4_Intron	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.D3317E(2)|p.A3310T(2)|p.H3309D(2)|p.V3305A(1)|p.D3317N(1)|p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)|p.L3314P(1)|p.V3305_S3320delVSTGHATPLLVTDASS(1)|p.S3317R(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)		CCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGT	0.565																																																	12	Substitution - Missense(10)|Deletion - In frame(2)	stomach(11)|kidney(1)	3							,,	1072,1522		327,418,552					,,	-2.0	0.0		dbSNP_130	14	2388,3868		646,1096,1386	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	973,1514,1938	A1A1,A1R,RR		38.1714,41.3261,39.096	,,	,,		3460,5390				196993316	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.9914_9961delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAG	3.37:g.195508490_195508537delCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENSP00000417498:p.Val3305_Ser3320del		196993269	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																																																																																				0.565	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195512550	195512597	+	In_Frame_Del	DEL	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	-	rs6799339|rs71254296|rs150659095|rs558165743|rs576374543|rs537525175|rs566422076|rs199625793|rs539429280	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:195512550_195512597delGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	ENST00000463781.3	-	2	6313_6360	c.5854_5901delCCTCTTCCTGTCACCGACGCTTCCTCAGTACCCACAGGTCACGCCACC	c.(5854-5901)cctcttcctgtcaccgacgcttcctcagtacccacaggtcacgccaccdel	p.PLPVTDASSVPTGHAT1952del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.PLPVTDASSVPTGHAT1952del|MUC4_ENST00000346145.4_Intron	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.P1952_T1967delPLPVTDASSVPTGHAT(4)|p.P1952S(1)|p.V1961V(1)|p.P1962S(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)		CAGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGA	0.601																																																	7	Deletion - In frame(4)|Substitution - Missense(2)|Substitution - coding silent(1)	stomach(4)|endometrium(3)	3																																								196996992	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.5854_5901delCCTCTTCCTGTCACCGACGCTTCCTCAGTACCCACAGGTCACGCCACC	3.37:g.195512550_195512597delGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	ENSP00000417498:p.Pro1952_Thr1967del		196996945	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																																																																																				0.601	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-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr3:195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENST00000463781.3	-	2	3865_3912	c.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	c.(3406-3453)tctcttcctgtcaccgacacttcctcagtatccacaggtcacaccaccdel	p.SLPVTDTSSVSTGHTT1136del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.SLPVTDTSSVSTGHTT1136del|MUC4_ENST00000346145.4_Intron	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	
APC	324	hgsc.bcm.edu	37	5	112175931	112175931	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr5:112175931delA	ENST00000457016.1	+	16	5020	c.4640delA	c.(4639-4641)gaafs	p.E1547fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.E1547fs|APC_ENST00000508376.2_Frame_Shift_Del_p.E1547fs			P25054	APC_HUMAN	adenomatous polyposis coli	1547	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.K1192fs*3(1)|p.?(1)|p.E1547fs*13(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)		GAATCAAATGAAAACCAAGAG	0.323		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"""	3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	large_intestine(1)|soft_tissue(1)|skin(1)	5											77.0	84.0	81.0					5																	112175931		2202	4300	6502	112203830	SO:0001589	frameshift_variant	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.4640delA	5.37:g.112175931delA	ENSP00000413133:p.Glu1547fs		112203830	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.323	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
GPRIN1	114787	hgsc.bcm.edu	37	5	176026120	176026143	+	In_Frame_Del	DEL	CTCAAAGACCCAGGATCCTCCTTC	CTCAAAGACCCAGGATCCTCCTTC	-	rs3797464|rs200519605|rs386695335|rs550332435|rs77245696|rs142779818|rs371149640|rs199714570|rs373697082|rs201635586	byFrequency	TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	CTCAAAGACCCAGGATCCTCCTTC	CTCAAAGACCCAGGATCCTCCTTC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr5:176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC	ENST00000303991.4	-	2	870_893	c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	c.(691-717)aggaaggaggatcctgggtctttgaga>aga	p.231_239RKEDPGSLR>R		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	231				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.L238L(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCACCTTTCTCAAAGACCCAGGATCCTCCTTCCTCGGTGACA	0.491																																																	1	Substitution - coding silent(1)	lung(1)	5								863,3329		131,601,1364						1.0	0.0		dbSNP_134	123	1529,6607		196,1137,2735	no	coding	GPRIN1	NM_052899.2		327,1738,4099	A1A1,A1R,RR		18.793,20.5868,19.403				2392,9936				175958749	SO:0001651	inframe_deletion	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	5.37:g.176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC	ENSP00000305839:p.Arg231_Leu238del		175958726	C9JM70|Q8ND74|Q96PZ4	In_Frame_Del	DEL	ENST00000303991.4	37	CCDS4405.1																																																																																				0.491	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899	
KMT2C	58508	hgsc.bcm.edu	37	7	151960154	151960155	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr7:151960154_151960155insC	ENST00000262189.6	-	9	1463_1464	c.1245_1246insG	c.(1243-1248)acttttfs	p.F416fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.F416fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	416					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)										TGAAGACAAAAAGTATGATACC	0.312																																																	0			7																																								151591088	SO:0001589	frameshift_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.1245_1246insG	7.37:g.151960154_151960155insC	ENSP00000262189:p.Phe416fs		151591087	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	ENST00000262189.6	37	CCDS5931.1																																																																																				0.312	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
MUC5B	727897	hgsc.bcm.edu	37	11	1269544	1269544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:1269544delA	ENST00000529681.1	+	31	11492	c.11434delA	c.(11434-11436)accfs	p.T3814fs	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Frame_Shift_Del_p.T3817fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3814	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTATCACAGACCACCACACC	0.627																																																	0			11								10,3416		0,10,1703	33.0	42.0	39.0			0.1	0.0	11		39	50,7272		3,44,3614	no	frameshift	MUC5B	NM_002458.2		3,54,5317	A1A1,A1R,RR		0.6829,0.2919,0.5582			1269544	60,10688	1903	4065	5968	1226120	SO:0001589	frameshift_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11434delA	11.37:g.1269544delA	ENSP00000436812:p.Thr3814fs		1226120	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Del	DEL	ENST00000529681.1	37	CCDS44515.2																																																																																				0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
ESRRA	2101	hgsc.bcm.edu	37	11	64083296	64083298	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	GGG	GGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr11:64083296_64083298delGGG	ENST00000405666.1	+	7	1364_1366	c.1130_1132delGGG	c.(1129-1134)cgggcg>ccg	p.377_378RA>P	ESRRA_ENST00000000442.6_In_Frame_Del_p.377_378RA>P|PRDX5_ENST00000265462.4_5'Flank|PRDX5_ENST00000352435.4_5'Flank|PRDX5_ENST00000347941.4_5'Flank|ESRRA_ENST00000406310.1_In_Frame_Del_p.376_377RA>P	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	377	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R377_A378>P(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GAGCGGCGGCGGGCGGGCAGGCT	0.69																																																	2	Complex - deletion inframe(2)	lung(2)	11								51,3601		5,41,1780						2.3	1.0			19	264,7542		4,256,3643	no	coding	ESRRA	NM_004451.3		9,297,5423	A1A1,A1R,RR		3.382,1.3965,2.7492				315,11143				63839874	SO:0001651	inframe_deletion	2101			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.1130_1132delGGG	11.37:g.64083296_64083298delGGG	ENSP00000384851:p.Arg377_Ala378delinsPro		63839872	Q14514	In_Frame_Del	DEL	ENST00000405666.1	37	CCDS41667.1																																																																																				0.690	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451	
NEFH	4744	hgsc.bcm.edu	37	22	29885567	29885568	+	In_Frame_Ins	INS	-	-	AAGTCCCCTGAGAAGGCC	rs147489453|rs559153194|rs75808076|rs59279731		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chr22:29885567_29885568insAAGTCCCCTGAGAAGGCC	ENST00000310624.6	+	4	1971_1972	c.1938_1939insAAGTCCCCTGAGAAGGCC	c.(1939-1941)aag>AAGTCCCCTGAGAAGGCCaag	p.647_647K>KSPEKAK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	653	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTGA	0.569																																																	0			22								2816,1448		937,942,253						-5.3	0.0		dbSNP_134	77	5046,3206		1537,1972,617	no	coding	NEFH	NM_021076.3		2474,2914,870	A1A1,A1R,RR		38.8512,33.9587,37.1844				7862,4654				28215568	SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1939_1956dupAAGTCCCCTGAGAAGGCC	22.37:g.29885567_29885568insAAGTCCCCTGAGAAGGCC	Exception_encountered		28215567	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
F8	2157	hgsc.bcm.edu	37	X	154158428	154158428	+	Frame_Shift_Del	DEL	T	T	-	rs387906450		TCGA-DY-A1DF-01A-11D-A152-10	TCGA-DY-A1DF-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c4a43dba-1cef-4c03-bc80-47e4a7c3b7b9	89dc6a4a-1cae-4ac7-99b8-6a6752671939	g.chrX:154158428delT	ENST00000360256.4	-	14	3837	c.3637delA	c.(3637-3639)attfs	p.I1213fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1213	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTCCTGAATTTTTTTTTCT	0.328																																																	0			X	GRCh37	CD930955	F8	D							26.0	25.0	25.0					X																	154158428		2203	4294	6497	153811622	SO:0001589	frameshift_variant	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3637delA	X.37:g.154158428delT	ENSP00000353393:p.Ile1213fs		153811622	Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	CCDS35457.1																																																																																				0.328	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
