#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
HECW1	23072	hgsc.bcm.edu	37	7	43485148	43485148	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr7:43485148G>A	ENST00000395891.2	+	11	2982	c.2377G>A	c.(2377-2379)Ggt>Agt	p.G793S	HECW1_ENST00000453890.1_Missense_Mutation_p.G793S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	793					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCCGTGGCAGGTCCAAGCAA	0.577																																																	0			7											9.0	10.0	10.0					7																	43485148		1790	3897	5687	43451673	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2377G>A	7.37:g.43485148G>A	ENSP00000379228:p.Gly793Ser		43451673	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811754	0.32053	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.33865	1.39;1.46	5.33	4.43	0.53597	.	0.265451	0.43110	D	0.000610	T	0.32615	0.0835	L	0.36672	1.1	0.52099	D	0.999945	P;P	0.48911	0.751;0.917	B;B	0.44108	0.245;0.441	T	0.03221	-1.1059	10	0.27785	T	0.31	.	15.2222	0.73320	0.0:0.0:0.8583:0.1417	.	793;793	B4DH42;Q76N89	.;HECW1_HUMAN	S	793	ENSP00000379228:G793S;ENSP00000407774:G793S	ENSP00000265522:G793S	G	+	1	0	HECW1	43451673	1.000000	0.71417	0.657000	0.29651	0.378000	0.30076	7.472000	0.80996	1.201000	0.43203	0.655000	0.94253	GGT		0.577	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
COBL	23242	hgsc.bcm.edu	37	7	51095859	51095859	+	Silent	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr7:51095859C>T	ENST00000265136.7	-	10	3099	c.2934G>A	c.(2932-2934)ctG>ctA	p.L978L	COBL_ENST00000395542.2_Silent_p.L1060L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	978					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AAGACTGAACCAGTGAGAAAC	0.557																																					NSCLC(189;2119 2138 12223 30818 34679)												0			7											73.0	68.0	70.0					7																	51095859		2203	4300	6503	51063353	SO:0001819	synonymous_variant	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2934G>A	7.37:g.51095859C>T			51063353	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	CCDS34637.1																																																																																				0.557	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
SGCE	8910	hgsc.bcm.edu	37	7	94248263	94248263	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr7:94248263G>A	ENST00000265735.7	-	5	579	c.469C>T	c.(469-471)Ccg>Tcg	p.P157S	SGCE_ENST00000415788.2_Missense_Mutation_p.P193S|SGCE_ENST00000437425.2_Missense_Mutation_p.P116S|SGCE_ENST00000428696.2_Missense_Mutation_p.P157S|SGCE_ENST00000447873.1_Missense_Mutation_p.P157S|SGCE_ENST00000445866.2_Missense_Mutation_p.P157S	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	157					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TATGGCAACGGGAAGTCTAAT	0.353																																																	0			7											82.0	75.0	78.0					7																	94248263		2203	4300	6503	94086199	SO:0001583	missense	8910			AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.469C>T	7.37:g.94248263G>A	ENSP00000265735:p.Pro157Ser		94086199	B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392848	0.42410	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.98280	-4.45;-4.46;-4.84;-4.46;-4.46;-4.46	5.54	5.54	0.83059	Dystroglycan-type cadherin-like (1);	0.047393	0.85682	D	0.000000	D	0.98169	0.9395	L	0.38531	1.155	0.80722	D	1	D;P;B;B;D	0.89917	1.0;0.904;0.256;0.34;0.999	D;P;B;B;D	0.97110	1.0;0.659;0.262;0.113;0.996	D	0.97615	1.0132	10	0.27785	T	0.31	-9.3439	19.8647	0.96799	0.0:0.0:1.0:0.0	.	193;116;157;157;157	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556	.;.;.;.;SGCE_HUMAN	S	157;157;116;157;157;193	ENSP00000265735:P157S;ENSP00000398930:P157S;ENSP00000394061:P116S;ENSP00000388734:P157S;ENSP00000397536:P157S;ENSP00000405313:P193S	ENSP00000265735:P157S	P	-	1	0	SGCE	94086199	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.004000	0.88535	2.775000	0.95449	0.655000	0.94253	CCG		0.353	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2		
ARMC10	83787	hgsc.bcm.edu	37	7	102738780	102738780	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr7:102738780A>G	ENST00000323716.3	+	7	1204	c.812A>G	c.(811-813)cAc>cGc	p.H271R	ARMC10_ENST00000441711.2_Missense_Mutation_p.H236R|ARMC10_ENST00000425331.1_Missense_Mutation_p.H212R|ARMC10_ENST00000454559.1_Missense_Mutation_p.H177R|ARMC10_ENST00000541300.1_Missense_Mutation_p.H153R|ARMC10_ENST00000428183.2_Missense_Mutation_p.H212R	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	271					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TATGACAGCCACGTAGCAAAG	0.323																																																	0			7											38.0	36.0	36.0					7																	102738780		2202	4299	6501	102526016	SO:0001583	missense	83787			AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"""Armadillo repeat containing"""	21706	protein-coding gene	gene with protein product	"""specific Splicing Variant involved in Hepatocarcinogenesis"""	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.812A>G	7.37:g.102738780A>G	ENSP00000319412:p.His271Arg		102526016	A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Missense_Mutation	SNP	ENST00000323716.3	37	CCDS5728.1	.	.	.	.	.	.	.	.	.	.	A	3.914	-0.019585	0.07634	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000441711;ENST00000454559;ENST00000425331;ENST00000541300;ENST00000434153;ENST00000431642	T;T;T;T;T;T;T;T	0.48522	1.59;1.59;1.59;1.59;1.59;1.59;0.81;1.59	5.42	1.6	0.23607	Armadillo-like helical (1);Armadillo-type fold (1);	0.536654	0.21849	N	0.068201	T	0.32071	0.0817	L	0.46157	1.445	0.09310	N	1	B;B;B;B;B;B;B	0.21381	0.001;0.004;0.007;0.055;0.004;0.002;0.002	B;B;B;B;B;B;B	0.24974	0.006;0.006;0.009;0.057;0.017;0.006;0.009	T	0.17837	-1.0356	10	0.11182	T	0.66	-9.4756	3.9723	0.09458	0.5197:0.1762:0.3041:0.0	.	212;153;177;199;212;236;271	B4DWJ8;F5GX65;Q8N2F6-4;C9J5N7;Q8N2F6-3;Q8N2F6-2;Q8N2F6	.;.;.;.;.;.;ARM10_HUMAN	R	271;212;236;177;212;153;199;113	ENSP00000319412:H271R;ENSP00000396654:H212R;ENSP00000413619:H236R;ENSP00000405612:H177R;ENSP00000397969:H212R;ENSP00000440463:H153R;ENSP00000398201:H199R;ENSP00000406840:H113R	ENSP00000319412:H271R	H	+	2	0	ARMC10	102526016	0.056000	0.20664	0.113000	0.21522	0.871000	0.50021	0.669000	0.25142	0.399000	0.25367	0.482000	0.46254	CAC		0.323	ARMC10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347882.1	NM_031905	
FEZF1	389549	hgsc.bcm.edu	37	7	121942355	121942355	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr7:121942355T>C	ENST00000442488.2	-	4	1191	c.1124A>G	c.(1123-1125)aAt>aGt	p.N375S	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.N371S|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.N325S	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	375					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GTTGCAGATATTGCACTTGAA	0.468																																																	0			7											164.0	139.0	147.0					7																	121942355		2203	4300	6503	121729591	SO:0001583	missense	389549			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1124A>G	7.37:g.121942355T>C	ENSP00000411145:p.Asn375Ser		121729591	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	T	9.482	1.098428	0.20552	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.07216	3.21;3.21;3.21	5.4	4.24	0.50183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.100263	0.64402	D	0.000003	T	0.05640	0.0148	N	0.17379	0.485	0.39856	D	0.973317	B;B	0.30326	0.276;0.234	B;B	0.32393	0.145;0.09	T	0.44802	-0.9304	10	0.15952	T	0.53	-17.5714	11.377	0.49735	0.0:0.0707:0.0:0.9293	.	375;325	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	S	375;371;325	ENSP00000411145:N375S;ENSP00000332777:N371S;ENSP00000392727:N325S	ENSP00000332777:N371S	N	-	2	0	FEZF1	121729591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.470000	0.53100	1.062000	0.40625	0.459000	0.35465	AAT		0.468	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613	
GPR37	2861	hgsc.bcm.edu	37	7	124387044	124387044	+	Silent	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr7:124387044G>T	ENST00000303921.2	-	2	2027	c.1377C>A	c.(1375-1377)atC>atA	p.I459I		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	459					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAGAGCAGGTGATGGTGAAAA	0.473																																																	0			7											137.0	120.0	126.0					7																	124387044		2203	4300	6503	124174280	SO:0001819	synonymous_variant	2861				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1377C>A	7.37:g.124387044G>T			124174280	A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	CCDS5792.1																																																																																				0.473	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
FLNC	2318	hgsc.bcm.edu	37	7	128484813	128484813	+	Silent	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr7:128484813C>T	ENST00000325888.8	+	21	3555	c.3294C>T	c.(3292-3294)acC>acT	p.T1098T	FLNC_ENST00000346177.6_Silent_p.T1098T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1098					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGGGGCTGACCGTAGAGGGCC	0.637																																																	0			7											54.0	64.0	61.0					7																	128484813		2059	4213	6272	128272049	SO:0001819	synonymous_variant	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3294C>T	7.37:g.128484813C>T			128272049	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	CCDS43644.1																																																																																				0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
KEL	3792	hgsc.bcm.edu	37	7	142641482	142641482	+	Silent	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr7:142641482A>G	ENST00000355265.2	-	13	1893	c.1419T>C	c.(1417-1419)gcT>gcC	p.A473A	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	473					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCTGCAGTTGAGCAACCTGGA	0.537																																																	0			7											73.0	75.0	75.0					7																	142641482		2203	4300	6503	142351604	SO:0001819	synonymous_variant	3792			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1419T>C	7.37:g.142641482A>G			142351604	B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	CCDS34766.1																																																																																				0.537	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
EZH2	2146	hgsc.bcm.edu	37	7	148515175	148515175	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr7:148515175G>T	ENST00000460911.1	-	10	1107	c.1019C>A	c.(1018-1020)gCt>gAt	p.A340D	RNU7-20P_ENST00000515903.1_RNA|EZH2_ENST00000483967.1_Missense_Mutation_p.A331D|EZH2_ENST00000476773.1_Missense_Mutation_p.A331D|EZH2_ENST00000541220.1_Missense_Mutation_p.A331D|EZH2_ENST00000320356.2_Missense_Mutation_p.A345D|EZH2_ENST00000536783.1_3'UTR|EZH2_ENST00000350995.2_Missense_Mutation_p.A301D|EZH2_ENST00000478654.1_Missense_Mutation_p.A331D			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	340	Interaction with CDYL.|Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TATCCGCTCAGCGGTGAGAGC	0.493			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0			7											114.0	112.0	112.0					7																	148515175		2203	4300	6503	148146108	SO:0001583	missense	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1019C>A	7.37:g.148515175G>T	ENSP00000419711:p.Ala340Asp		148146108	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	g	18.77	3.695261	0.68386	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.78	5.78	0.91487	.	0.057124	0.64402	D	0.000001	T	0.73179	0.3554	N	0.19112	0.55	0.80722	D	1	D;B;B;B;B;P	0.55800	0.973;0.216;0.216;0.418;0.002;0.73	P;B;B;B;B;P	0.47346	0.544;0.079;0.055;0.145;0.006;0.452	T	0.72940	-0.4139	10	0.33141	T	0.24	.	14.8087	0.69977	0.0:0.0:0.856:0.144	.	340;331;331;340;301;345	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	D	331;345;340;301;331;331;331	ENSP00000417062:A331D;ENSP00000320147:A345D;ENSP00000419711:A340D;ENSP00000223193:A301D;ENSP00000443219:A331D;ENSP00000419050:A331D;ENSP00000419856:A331D	ENSP00000320147:A345D	A	-	2	0	EZH2	148146108	1.000000	0.71417	0.962000	0.40283	0.974000	0.67602	6.892000	0.75644	2.724000	0.93272	0.563000	0.77884	GCT		0.493	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456	
MAVS	57506	hgsc.bcm.edu	37	20	3838404	3838404	+	Silent	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr20:3838404G>A	ENST00000428216.2	+	3	368	c.240G>A	c.(238-240)gaG>gaA	p.E80E	MAVS_ENST00000358134.6_Silent_p.E80E|MAVS_ENST00000416600.2_Intron	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	80					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|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 interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGGGCTGTGAGCTAGTTGATC	0.637																																																	0			20											142.0	113.0	123.0					20																	3838404		2203	4300	6503	3786404	SO:0001819	synonymous_variant	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.240G>A	20.37:g.3838404G>A			3786404	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	ENST00000428216.2	37	CCDS33437.1																																																																																				0.637	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746	
ZNF831	128611	hgsc.bcm.edu	37	20	57768026	57768026	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr20:57768026G>T	ENST00000371030.2	+	1	1952	c.1952G>T	c.(1951-1953)gGc>gTc	p.G651V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	651							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGGGAATGGGCAGTGGGGCA	0.567																																																	0			20											58.0	68.0	65.0					20																	57768026		2036	4178	6214	57201421	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1952G>T	20.37:g.57768026G>T	ENSP00000360069:p.Gly651Val		57201421	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083009	0.36758	.	.	ENSG00000124203	ENST00000371030	T	0.04502	3.61	5.09	-5.47	0.02600	.	0.520830	0.17398	N	0.175665	T	0.02304	0.0071	L	0.34521	1.04	0.19300	N	0.999979	B	0.30281	0.275	B	0.17979	0.02	T	0.34004	-0.9846	10	0.49607	T	0.09	-2.477	1.2164	0.01915	0.2272:0.3129:0.265:0.1949	.	651	Q5JPB2	ZN831_HUMAN	V	651	ENSP00000360069:G651V	ENSP00000360069:G651V	G	+	2	0	ZNF831	57201421	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.233000	0.17911	-0.876000	0.04017	-0.136000	0.14681	GGC		0.567	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
LAMA5	3911	hgsc.bcm.edu	37	20	60921205	60921205	+	Missense_Mutation	SNP	C	C	T	rs571258684		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr20:60921205C>T	ENST00000252999.3	-	10	1415	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	LAMA5_ENST00000370677.3_Missense_Mutation_p.R450Q|LAMA5_ENST00000370692.3_Missense_Mutation_p.R450Q	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	450	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GAAGTTGGGCCGGCAGTAGCA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		18025	0.001		0.0	False		,,,				2504	0.0																0			20											52.0	46.0	48.0					20																	60921205		2200	4297	6497	60354600	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1349G>A	20.37:g.60921205C>T	ENSP00000252999:p.Arg450Gln		60354600	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655772	0.29425	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.61742	0.08;0.08;0.08	4.78	1.31	0.21738	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.106822	0.64402	N	0.000009	T	0.39410	0.1077	L	0.38649	1.16	0.32022	N	0.600716	B	0.30511	0.282	B	0.21546	0.035	T	0.44221	-0.9342	10	0.66056	D	0.02	.	5.6324	0.17518	0.0:0.3578:0.0:0.6422	.	450	O15230	LAMA5_HUMAN	Q	450	ENSP00000252999:R450Q;ENSP00000359726:R450Q;ENSP00000359711:R450Q	ENSP00000252999:R450Q	R	-	2	0	LAMA5	60354600	0.998000	0.40836	1.000000	0.80357	0.172000	0.22775	3.090000	0.50191	0.440000	0.26502	-0.258000	0.10820	CGG		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
PKDREJ	10343	hgsc.bcm.edu	37	22	46658574	46658574	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr22:46658574C>T	ENST00000253255.5	-	1	645	c.646G>A	c.(646-648)Gtc>Atc	p.V216I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	216	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)		CGCTGGATGACGCAGGCGTTT	0.667																																																	0			22											29.0	27.0	28.0					22																	46658574		2202	4299	6501	45037238	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.646G>A	22.37:g.46658574C>T	ENSP00000253255:p.Val216Ile		45037238	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	7.060	0.566285	0.13560	.	.	ENSG00000130943	ENST00000253255	T	0.36157	1.27	4.31	-8.62	0.00881	Egg jelly receptor, REJ-like (1);	13.678900	0.00166	N	0.000005	T	0.18635	0.0447	N	0.24115	0.695	0.09310	N	1	B	0.22146	0.065	B	0.08055	0.003	T	0.08911	-1.0699	10	0.20519	T	0.43	0.0245	4.7493	0.13052	0.0822:0.1846:0.1884:0.5449	.	216	Q9NTG1	PKDRE_HUMAN	I	216	ENSP00000253255:V216I	ENSP00000253255:V216I	V	-	1	0	PKDREJ	45037238	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.937000	0.01547	-2.617000	0.00442	-0.467000	0.05162	GTC		0.667	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
FBXO34	55030	hgsc.bcm.edu	37	14	55818417	55818417	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr14:55818417A>G	ENST00000313833.4	+	2	1554	c.1309A>G	c.(1309-1311)Aga>Gga	p.R437G	FBXO34_ENST00000440021.1_Missense_Mutation_p.R437G	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	437										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TTGTATGAGCAGAGAGCTTGT	0.433																																																	0			14											137.0	128.0	131.0					14																	55818417		2203	4300	6503	54888170	SO:0001583	missense	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1309A>G	14.37:g.55818417A>G	ENSP00000313159:p.Arg437Gly		54888170	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	A	1.064	-0.672112	0.03403	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.18338	2.22;2.22	5.34	-2.78	0.05859	.	0.737426	0.12571	N	0.457314	T	0.13543	0.0328	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.22068	-1.0227	10	0.52906	T	0.07	-2.1816	7.0394	0.25010	0.2925:0.3605:0.347:0.0	.	437	Q9NWN3	FBX34_HUMAN	G	437	ENSP00000313159:R437G;ENSP00000394117:R437G	ENSP00000313159:R437G	R	+	1	2	FBXO34	54888170	0.007000	0.16637	0.005000	0.12908	0.004000	0.04260	0.127000	0.15790	-0.669000	0.05289	-0.256000	0.11100	AGA		0.433	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1		
ATG2B	55102	hgsc.bcm.edu	37	14	96784098	96784098	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr14:96784098T>G	ENST00000359933.4	-	19	3867	c.2974A>C	c.(2974-2976)Agt>Cgt	p.S992R		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	992					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATGAGCTGACTGGCTACTGAA	0.348																																																	0			14											100.0	96.0	97.0					14																	96784098		1832	4100	5932	95853851	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2974A>C	14.37:g.96784098T>G	ENSP00000353010:p.Ser992Arg		95853851	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	34	5.379615	0.95945	.	.	ENSG00000066739	ENST00000359933	T	0.42131	0.98	5.54	5.54	0.83059	.	0.141530	0.46145	U	0.000305	T	0.62588	0.2440	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.65804	-0.6079	10	0.87932	D	0	.	15.9843	0.80138	0.0:0.0:0.0:1.0	.	992	Q96BY7	ATG2B_HUMAN	R	992	ENSP00000353010:S992R	ENSP00000353010:S992R	S	-	1	0	ATG2B	95853851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.709000	0.84645	2.228000	0.72767	0.533000	0.62120	AGT		0.348	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
PCDH11Y	83259	hgsc.bcm.edu	37	Y	5605726	5605726	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chrY:5605726C>A	ENST00000215473.6	+	6	3766	c.3766C>A	c.(3766-3768)Cag>Aag	p.Q1256K				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1256					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCTCTGCCACAGGTTATTGC	0.547																																																	0			Y																																								5665726	SO:0001583	missense	83259			AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000215473.6:c.3766C>A	Y.37:g.5605726C>A	ENSP00000215473:p.Gln1256Lys		5665726	Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000215473.6	37																																																																																					0.547	PCDH11Y-201	KNOWN	basic	protein_coding	protein_coding		NM_032973	
STK11	6794	hgsc.bcm.edu	37	19	1207080	1207080	+	Silent	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr19:1207080G>T	ENST00000326873.7	+	1	1341	c.168G>T	c.(166-168)ggG>ggT	p.G56G	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)|p.E57fs*107(1)|p.G56fs*4(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGCTGGGGGAAGGCTCTT	0.607		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	25	Whole gene deletion(20)|Deletion - Frameshift(2)|Unknown(2)|Insertion - Frameshift(1)	cervix(15)|lung(4)|breast(1)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	19											42.0	46.0	45.0					19																	1207080		2087	4200	6287	1158080	SO:0001819	synonymous_variant	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.168G>T	19.37:g.1207080G>T			1158080	B2RBX7|E7EW76	Silent	SNP	ENST00000326873.7	37	CCDS45896.1																																																																																				0.607	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455	
KHSRP	8570	hgsc.bcm.edu	37	19	6416316	6416316	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr19:6416316G>A	ENST00000398148.3	-	15	1683	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	531	Ala/Gly/Pro-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CACTGTGGGGGAGCCCCGGGT	0.632																																					Colon(55;593 1006 2067 9135 22980)												0			19											11.0	13.0	12.0					19																	6416316		1831	4081	5912	6367316	SO:0001583	missense	8570			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1591C>T	19.37:g.6416316G>A	ENSP00000381216:p.Pro531Ser		6367316	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629212	0.46944	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	T	0.51325	0.71	5.21	5.21	0.72293	.	0.127256	0.52532	N	0.000066	T	0.36138	0.0956	N	0.19112	0.55	0.41399	D	0.987661	B	0.30914	0.3	B	0.29077	0.098	T	0.25222	-1.0138	10	0.46703	T	0.11	.	17.5431	0.87853	0.0:0.0:1.0:0.0	.	531	Q92945	FUBP2_HUMAN	S	531	ENSP00000381216:P531S	ENSP00000201886:P531S	P	-	1	0	KHSRP	6367316	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	4.330000	0.59266	2.425000	0.82216	0.655000	0.94253	CCC		0.632	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		
ZNF101	94039	hgsc.bcm.edu	37	19	19790576	19790576	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr19:19790576A>G	ENST00000592502.1	+	4	888	c.778A>G	c.(778-780)Aaa>Gaa	p.K260E	ZNF101_ENST00000415784.2_Missense_Mutation_p.K140E|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						ACAATGTGGTAAAGCCTTCAT	0.393																																																	0			19											42.0	40.0	41.0					19																	19790576		2203	4300	6503	19651576	SO:0001583	missense	94039			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.778A>G	19.37:g.19790576A>G	ENSP00000468049:p.Lys260Glu		19651576	C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582837	0.46006	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.27104	1.69;1.69	0.235	0.235	0.15431	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41465	0.1160	M	0.80422	2.495	0.29330	N	0.866779	D	0.59767	0.986	P	0.59012	0.85	T	0.32613	-0.9900	8	.	.	.	.	4.8392	0.13481	0.9998:0.0:2.0E-4:0.0	.	260	Q8IZC7	ZN101_HUMAN	E	260;260;140	ENSP00000319716:K260E;ENSP00000400952:K140E	.	K	+	1	0	ZNF101	19651576	0.293000	0.24371	0.136000	0.22124	0.136000	0.21042	0.958000	0.29227	0.263000	0.21812	0.260000	0.18958	AAA		0.393	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204	
PHLDB3	653583	hgsc.bcm.edu	37	19	44006279	44006279	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr19:44006279G>A	ENST00000292140.5	-	3	730	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	PHLDB3_ENST00000599242.1_Missense_Mutation_p.R124C	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	124							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TTCCTCTGGCGCTGTAGCTCC	0.657																																																	0			19											26.0	28.0	27.0					19																	44006279		2202	4295	6497	48698119	SO:0001583	missense	653583				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.370C>T	19.37:g.44006279G>A	ENSP00000292140:p.Arg124Cys		48698119	Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483661	0.84854	.	.	ENSG00000176531	ENST00000292140	T	0.47528	0.84	4.11	4.11	0.48088	.	0.938103	0.08873	N	0.881237	T	0.62732	0.2452	L	0.47716	1.5	0.39113	D	0.961502	D;D	0.89917	1.0;1.0	D;P	0.72338	0.977;0.848	T	0.59558	-0.7432	10	0.72032	D	0.01	.	12.2619	0.54655	0.0:0.0:1.0:0.0	.	124;124	Q6NSJ2-2;Q6NSJ2	.;PHLB3_HUMAN	C	124	ENSP00000292140:R124C	ENSP00000292140:R124C	R	-	1	0	PHLDB3	48698119	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.602000	0.61098	2.040000	0.60383	0.306000	0.20318	CGC		0.657	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2		
FCGRT	2217	hgsc.bcm.edu	37	19	50017733	50017733	+	Silent	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr19:50017733G>A	ENST00000221466.5	+	4	1077	c.591G>A	c.(589-591)ctG>ctA	p.L197L	FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Silent_p.L197L|FCGRT_ENST00000596975.1_Intron	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	197	Alpha-2.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GCGGAAACCTGGAGTGGAAGG	0.662																																																	0			19											18.0	21.0	20.0					19																	50017733		2203	4297	6500	54709545	SO:0001819	synonymous_variant	2217			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.591G>A	19.37:g.50017733G>A			54709545	Q5HYM5|Q9HBV7|Q9NZ19	Silent	SNP	ENST00000221466.5	37	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	G	9.210	1.030653	0.19512	.	.	ENSG00000104870	ENST00000415900	.	.	.	4.2	-1.24	0.09435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9412	0.29959	0.0:0.5101:0.3124:0.1775	.	.	.	.	X	143	.	ENSP00000391574:W143X	W	+	2	0	FCGRT	54709545	1.000000	0.71417	0.999000	0.59377	0.755000	0.42902	0.522000	0.22909	0.041000	0.15688	0.511000	0.50034	TGG		0.662	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1		
PNKP	11284	hgsc.bcm.edu	37	19	50373291	50373291	+	5'Flank	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr19:50373291G>A	ENST00000322344.3	-	0	0				PNKP_ENST00000595792.1_5'Flank|PNKP_ENST00000600910.1_5'Flank|AKT1S1_ENST00000391831.1_Silent_p.I218I|AKT1S1_ENST00000391832.3_Silent_p.I218I|AKT1S1_ENST00000391834.2_Silent_p.I218I|PNKP_ENST00000600573.1_5'Flank|AKT1S1_ENST00000344175.5_Silent_p.I218I|AKT1S1_ENST00000391833.1_Silent_p.I218I|AKT1S1_ENST00000391835.1_Silent_p.I238I|PNKP_ENST00000596014.1_5'Flank	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase						dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGCTCGCCGCGATGCGGTCCA	0.726								Other BER factors																																									0			19											9.0	9.0	9.0					19																	50373291		2161	4220	6381	55065103	SO:0001631	upstream_gene_variant	84335			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60			19.37:g.50373291G>A	Exception_encountered		55065103	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	CCDS12783.1																																																																																				0.726	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254	
LRRC4B	94030	hgsc.bcm.edu	37	19	51022391	51022391	+	Silent	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr19:51022391C>T	ENST00000599957.1	-	3	776	c.579G>A	c.(577-579)aaG>aaA	p.K193K	LRRC4B_ENST00000389201.3_Silent_p.K193K			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	193					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ATTCCAGCCGCTTGAGCTCGC	0.652																																																	0			19											37.0	44.0	41.0					19																	51022391		2182	4288	6470	55714203	SO:0001819	synonymous_variant	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.579G>A	19.37:g.51022391C>T			55714203	Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	CCDS42595.1																																																																																				0.652	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457	
NLRP13	126204	hgsc.bcm.edu	37	19	56443516	56443516	+	Silent	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr19:56443516A>G	ENST00000342929.3	-	1	161	c.162T>C	c.(160-162)cgT>cgC	p.R54R	NLRP13_ENST00000588751.1_Silent_p.R54R	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	54	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCCAGGGGATACGCGGGAAGT	0.552																																																	0			19											58.0	61.0	60.0					19																	56443516		2203	4300	6503	61135328	SO:0001819	synonymous_variant	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.162T>C	19.37:g.56443516A>G			61135328	Q7RTR5	Silent	SNP	ENST00000342929.3	37	CCDS33119.1																																																																																				0.552	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
USP29	57663	hgsc.bcm.edu	37	19	57640913	57640913	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr19:57640913G>T	ENST00000254181.4	+	4	1324	c.870G>T	c.(868-870)ttG>ttT	p.L290F	USP29_ENST00000598197.1_Missense_Mutation_p.L290F	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	290	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCCAATTTGGGAAACACCT	0.468																																																	0			19											75.0	72.0	73.0					19																	57640913		2203	4300	6503	62332725	SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.870G>T	19.37:g.57640913G>T	ENSP00000254181:p.Leu290Phe		62332725		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743190	0.49151	.	.	ENSG00000131864	ENST00000254181	T	0.78126	-1.15	2.68	2.68	0.31781	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.27176	U	0.020566	D	0.82379	0.5024	L	0.48877	1.53	0.31200	N	0.69994	D	0.89917	1.0	D	0.87578	0.998	T	0.81344	-0.0975	10	0.62326	D	0.03	-4.5761	11.5415	0.50669	0.0:0.0:1.0:0.0	.	290	Q9HBJ7	UBP29_HUMAN	F	290	ENSP00000254181:L290F	ENSP00000254181:L290F	L	+	3	2	USP29	62332725	1.000000	0.71417	0.974000	0.42286	0.718000	0.41266	1.551000	0.36233	1.774000	0.52232	0.585000	0.79938	TTG		0.468	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
MYOM2	9172	hgsc.bcm.edu	37	8	2092607	2092607	+	Missense_Mutation	SNP	C	C	T	rs368659851		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr8:2092607C>T	ENST00000262113.4	+	37	4241	c.4100C>T	c.(4099-4101)aCg>aTg	p.T1367M	MYOM2_ENST00000523438.1_Missense_Mutation_p.T792M|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1367	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)		CTGACCTGCACGGTGTTTGGA	0.542																																																	0			8						C	MET/THR	0,4406		0,0,2203	91.0	92.0	92.0		4100	5.2	1.0	8		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYOM2	NM_003970.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1367/1466	2092607	1,13005	2203	4300	6503	2080014	SO:0001583	missense	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.4100C>T	8.37:g.2092607C>T	ENSP00000262113:p.Thr1367Met		2080014	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238146	0.58886	0.0	1.16E-4	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.69561	-0.41;-0.41	5.24	5.24	0.73138	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	M	0.70842	2.15	0.46437	D	0.999043	D	0.89917	1.0	D	0.69654	0.965	T	0.82610	-0.0372	10	0.62326	D	0.03	.	19.1927	0.93674	0.0:1.0:0.0:0.0	.	1367	P54296	MYOM2_HUMAN	M	1367;792	ENSP00000262113:T1367M;ENSP00000428396:T792M	ENSP00000262113:T1367M	T	+	2	0	MYOM2	2080014	0.986000	0.35501	0.984000	0.44739	0.794000	0.44872	2.712000	0.47186	2.584000	0.87258	0.655000	0.94253	ACG		0.542	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
CSMD1	64478	hgsc.bcm.edu	37	8	3205602	3205602	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr8:3205602T>C	ENST00000520002.1	-	23	3944	c.3389A>G	c.(3388-3390)gAg>gGg	p.E1130G	CSMD1_ENST00000602723.1_Missense_Mutation_p.E1130G|CSMD1_ENST00000542608.1_Missense_Mutation_p.E1129G|CSMD1_ENST00000602557.1_Missense_Mutation_p.E1130G|CSMD1_ENST00000400186.3_Missense_Mutation_p.E1130G|CSMD1_ENST00000539096.1_Missense_Mutation_p.E1129G|CSMD1_ENST00000537824.1_Missense_Mutation_p.E1129G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1130	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)		ATAGATACACTCATGGTTATT	0.383																																																	0			8											78.0	71.0	73.0					8																	3205602		1814	4066	5880	3193009	SO:0001583	missense	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.3389A>G	8.37:g.3205602T>C	ENSP00000430733:p.Glu1130Gly		3193009	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.40|18.40	3.615781|3.615781	0.66672|0.66672	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.19669|.	2.13;2.13;2.13;2.13;2.13|.	5.64|5.64	5.64|5.64	0.86602|0.86602	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86264|.	0.5891|.	M|M	0.94101|0.94101	3.495|3.495	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.97110|.	0.996;1.0;0.999|.	D|.	0.89961|.	0.4086|.	10|.	0.49607|.	T|.	0.09|.	.|.	15.8625|15.8625	0.79035|0.79035	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1130;1130;1130|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	G|W	1130;1130;992;1129;1129;1129|609	ENSP00000383047:E1130G;ENSP00000430733:E1130G;ENSP00000441462:E1129G;ENSP00000446243:E1129G;ENSP00000441675:E1129G|.	ENSP00000320445:E992G|.	E|X	-|-	2|3	0|0	CSMD1|CSMD1	3193009|3193009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.184000|0.184000	0.23303|0.23303	7.852000|7.852000	0.86927|0.86927	2.135000|2.135000	0.66039|0.66039	0.528000|0.528000	0.53228|0.53228	GAG|TGA		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
RP1L1	94137	hgsc.bcm.edu	37	8	10470559	10470559	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr8:10470559G>A	ENST00000382483.3	-	4	1272	c.1049C>T	c.(1048-1050)aCg>aTg	p.T350M		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	350					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.T350K(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACTGGCTGCCGTGAGGGCGCT	0.672																																																	1	Substitution - Missense(1)	lung(1)	8											52.0	57.0	55.0					8																	10470559		2069	4204	6273	10507969	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1049C>T	8.37:g.10470559G>A	ENSP00000371923:p.Thr350Met		10507969	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.343992	0.41498	.	.	ENSG00000183638	ENST00000382483	T	0.04706	3.57	4.01	1.97	0.26223	.	.	.	.	.	T	0.13243	0.0321	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.08146	-1.0736	9	0.72032	D	0.01	-0.6656	8.949	0.35776	0.0975:0.2572:0.6453:0.0	.	350	A6NKC6	.	M	350	ENSP00000371923:T350M	ENSP00000371923:T350M	T	-	2	0	RP1L1	10507969	0.022000	0.18835	0.010000	0.14722	0.010000	0.07245	2.457000	0.45005	0.655000	0.30866	0.313000	0.20887	ACG		0.672	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
DLC1	10395	hgsc.bcm.edu	37	8	12957209	12957209	+	Silent	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr8:12957209G>A	ENST00000276297.4	-	9	3046	c.2637C>T	c.(2635-2637)taC>taT	p.Y879Y	DLC1_ENST00000520226.1_Silent_p.Y368Y|DLC1_ENST00000512044.2_Silent_p.Y476Y|DLC1_ENST00000358919.2_Silent_p.Y442Y	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	879	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCACGTTGTCGTAGATGCTCA	0.587																																																	0			8											60.0	52.0	55.0					8																	12957209		2203	4300	6503	13001580	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2637C>T	8.37:g.12957209G>A			13001580	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																				0.587	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
DLC1	10395	hgsc.bcm.edu	37	8	13259111	13259111	+	Silent	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr8:13259111T>C	ENST00000276297.4	-	3	1450	c.1041A>G	c.(1039-1041)cgA>cgG	p.R347R	DLC1_ENST00000316609.5_Silent_p.R347R|DLC1_ENST00000511869.1_Silent_p.R347R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	347					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCGCCCTATCTCGATCTTCTC	0.438																																																	0			8											132.0	118.0	123.0					8																	13259111		2203	4300	6503	13303482	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1041A>G	8.37:g.13259111T>C			13303482	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																				0.438	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
LZTS1	11178	hgsc.bcm.edu	37	8	20110479	20110479	+	Silent	SNP	C	C	T	rs368337680		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr8:20110479C>T	ENST00000381569.1	-	3	1320	c.963G>A	c.(961-963)tcG>tcA	p.S321S	LZTS1_ENST00000265801.6_Silent_p.S321S|LZTS1_ENST00000522290.1_Silent_p.S321S			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	321					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGCTCTTCTGCGAGGCCTGCT	0.682																																																	0			8											26.0	27.0	27.0					8																	20110479		2202	4299	6501	20154759	SO:0001819	synonymous_variant	11178			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.963G>A	8.37:g.20110479C>T			20154759	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	CCDS6015.1																																																																																				0.682	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020	
MCM4	4173	hgsc.bcm.edu	37	8	48882514	48882514	+	Missense_Mutation	SNP	A	A	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr8:48882514A>C	ENST00000262105.2	+	10	1540	c.1331A>C	c.(1330-1332)aAa>aCa	p.K444T	MCM4_ENST00000523944.1_Missense_Mutation_p.K444T|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	444					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TTTTCAGAGAAACGTGTGGAA	0.403																																																	0			8											137.0	136.0	136.0					8																	48882514		2203	4300	6503	49045067	SO:0001583	missense	4173				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1331A>C	8.37:g.48882514A>C	ENSP00000262105:p.Lys444Thr		49045067	Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.634486	0.67130	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	T;T;T	0.08634	4.08;4.08;3.07	6.17	6.17	0.99709	.	0.177959	0.64402	D	0.000014	T	0.06781	0.0173	N	0.08118	0	0.80722	D	1	B;B	0.20887	0.049;0.049	B;B	0.25759	0.063;0.063	T	0.37888	-0.9686	10	0.87932	D	0	-41.208	16.8222	0.85835	1.0:0.0:0.0:0.0	.	444;444	B3KMX0;P33991	.;MCM4_HUMAN	T	444;444;431;404;162	ENSP00000430194:K444T;ENSP00000262105:K444T;ENSP00000427875:K162T	ENSP00000262105:K444T	K	+	2	0	MCM4	49045067	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.930000	0.75858	2.371000	0.80710	0.533000	0.62120	AAA		0.403	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914	
ZFHX4	79776	hgsc.bcm.edu	37	8	77617275	77617275	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr8:77617275G>A	ENST00000521891.2	+	2	1400	c.952G>A	c.(952-954)Gtc>Atc	p.V318I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.V318I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V318I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V318I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAATAAATGCGTCTCCGCCAT	0.418										HNSCC(33;0.089)																																							0			8											136.0	127.0	130.0					8																	77617275		1869	4112	5981	77779830	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.952G>A	8.37:g.77617275G>A	ENSP00000430497:p.Val318Ile		77779830	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	9.614	1.132100	0.21041	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.47528	0.84;0.88;0.85;0.85	5.53	3.75	0.43078	.	0.000000	0.40064	U	0.001193	T	0.22704	0.0548	N	0.04880	-0.145	0.58432	D	0.99999	B;B;B;B	0.28880	0.036;0.061;0.061;0.226	B;B;B;B	0.20577	0.005;0.017;0.011;0.03	T	0.05209	-1.0899	10	0.14252	T	0.57	.	11.6957	0.51542	0.1409:0.0:0.8591:0.0	.	318;318;318;318	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	I	318	ENSP00000430497:V318I;ENSP00000399605:V318I;ENSP00000050961:V318I;ENSP00000430848:V318I	ENSP00000050961:V318I	V	+	1	0	ZFHX4	77779830	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.755000	0.55197	0.899000	0.36444	0.655000	0.94253	GTC		0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
CNBD1	168975	hgsc.bcm.edu	37	8	88365961	88365961	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr8:88365961T>G	ENST00000518476.1	+	10	1301	c.1250T>G	c.(1249-1251)aTc>aGc	p.I417S		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	417										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ACGTGCACAATCATTACCAAA	0.343																																																	0			8											88.0	87.0	88.0					8																	88365961		1846	4086	5932	88435077	SO:0001583	missense	168975			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1250T>G	8.37:g.88365961T>G	ENSP00000430073:p.Ile417Ser		88435077		Missense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.89|12.89	2.072484|2.072484	0.36566|0.36566	.|.	.|.	ENSG00000176571|ENSG00000176571	ENST00000518476|ENST00000523299;ENST00000521593	D|.	0.93859|.	-3.3|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.627042|.	0.13631|.	N|.	0.373715|.	T|T	0.48021|0.48021	0.1477|0.1477	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	P|.	0.51537|.	0.946|.	P|.	0.60541|.	0.876|.	T|T	0.40059|0.40059	-0.9583|-0.9583	10|5	0.87932|.	D|.	0|.	-2.7604|-2.7604	11.1056|11.1056	0.48201|0.48201	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	417|.	Q8NA66|.	CNBD1_HUMAN|.	S|A	417|109;54	ENSP00000430073:I417S|.	ENSP00000430073:I417S|.	I|S	+|+	2|1	0|0	CNBD1|CNBD1	88435077|88435077	0.105000|0.105000	0.21958|0.21958	0.002000|0.002000	0.10522|0.10522	0.169000|0.169000	0.22640|0.22640	3.947000|3.947000	0.56652|0.56652	1.880000|1.880000	0.54463|0.54463	0.454000|0.454000	0.30748|0.30748	ATC|TCA		0.343	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
ZFPM2	23414	hgsc.bcm.edu	37	8	106814831	106814831	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr8:106814831G>A	ENST00000407775.2	+	8	2771	c.2521G>A	c.(2521-2523)Gag>Aag	p.E841K	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E709K|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E572K|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E709K|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	841					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATCTCAGTCTGAGCGGACGAC	0.468																																																	0			8											48.0	43.0	45.0					8																	106814831		1949	4169	6118	106884007	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2521G>A	8.37:g.106814831G>A	ENSP00000384179:p.Glu841Lys		106884007	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965352	0.53507	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.20598	2.06;2.49;2.49;3.7	5.86	5.86	0.93980	.	0.047622	0.85682	D	0.000000	T	0.16385	0.0394	N	0.22421	0.69	0.80722	D	1	B	0.32245	0.361	B	0.22386	0.039	T	0.03184	-1.1063	10	0.35671	T	0.21	.	20.1802	0.98196	0.0:0.0:1.0:0.0	.	841	Q8WW38	FOG2_HUMAN	K	841;709;709;572	ENSP00000384179:E841K;ENSP00000430757:E709K;ENSP00000428720:E709K;ENSP00000367733:E572K	ENSP00000367733:E572K	E	+	1	0	ZFPM2	106884007	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.869000	0.99810	2.777000	0.95525	0.655000	0.94253	GAG		0.468	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
PANK4	55229	hgsc.bcm.edu	37	1	2451298	2451298	+	Silent	SNP	G	G	A	rs34724650	byFrequency	TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:2451298G>A	ENST00000378466.3	-	6	807	c.795C>T	c.(793-795)ctC>ctT	p.L265L	PANK4_ENST00000491212.1_5'Flank|PANK4_ENST00000435556.3_Silent_p.L226L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	265					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGCTCAGCCCGAGAGTCTGGT	0.672													G|||	6	0.00119808	0.0	0.0043	5008	,	,		12255	0.0		0.003	False		,,,				2504	0.0																0			1						G		3,4321		0,3,2159	16.0	19.0	18.0		795	3.1	1.0	1	dbSNP_126	18	21,8501		0,21,4240	no	coding-synonymous	PANK4	NM_018216.1		0,24,6399	AA,AG,GG		0.2464,0.0694,0.1868		265/774	2451298	24,12822	2162	4261	6423	2441158	SO:0001819	synonymous_variant	55229			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.795C>T	1.37:g.2451298G>A			2441158	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Silent	SNP	ENST00000378466.3	37	CCDS42.1																																																																																				0.672	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1		
UBR4	23352	hgsc.bcm.edu	37	1	19499567	19499567	+	Silent	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:19499567G>A	ENST00000375254.3	-	25	3339	c.3312C>T	c.(3310-3312)atC>atT	p.I1104I	UBR4_ENST00000375267.2_Silent_p.I1104I|UBR4_ENST00000375217.2_Silent_p.I1104I|UBR4_ENST00000375226.2_Silent_p.I1104I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1104					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTACAGTCGATACTACAGA	0.423																																																	0			1											87.0	83.0	84.0					1																	19499567		2203	4300	6503	19372154	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3312C>T	1.37:g.19499567G>A			19372154	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.423	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
MINOS1	440574	hgsc.bcm.edu	37	1	19949996	19949996	+	Silent	SNP	T	T	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:19949996T>A	ENST00000322753.6	+	3	197	c.141T>A	c.(139-141)tcT>tcA	p.S47S	MINOS1_ENST00000486890.1_3'UTR|MINOS1-NBL1_ENST00000602662.1_Intron	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	MIC10_HUMAN	mitochondrial inner membrane organizing system 1	47						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)											CCTTCGGTTCTGGCATGGGAT	0.383																																																	0			1											171.0	169.0	170.0					1																	19949996		2203	4300	6503	19822583	SO:0001819	synonymous_variant	440574			AK094318	CCDS30620.1, CCDS72719.1	1p36.13	2013-10-11	2011-10-04	2011-10-04	ENSG00000173436	ENSG00000173436			32068	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 151"""	C1orf151		21944719	Standard	NM_001032363		Approved	RP5-1056L3.2, FLJ36999, MIO10	uc021ohu.1	Q5TGZ0	OTTHUMG00000002712	ENST00000322753.6:c.141T>A	1.37:g.19949996T>A			19822583	Q96G68	Silent	SNP	ENST00000322753.6	37	CCDS30620.1																																																																																				0.383	MINOS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007697.2	NM_001032363	
ZYG11A	440590	hgsc.bcm.edu	37	1	53323088	53323088	+	Silent	SNP	C	C	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:53323088C>G	ENST00000371528.1	+	3	823	c.675C>G	c.(673-675)acC>acG	p.T225T	ZYG11A_ENST00000371532.1_Intron	NM_001004339.2	NP_001004339.2	Q6WRX3	ZY11A_HUMAN	zyg-11 family member A, cell cycle regulator	225										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	10						CACTGCTTACCTGTAAGGATC	0.393																																																	0			1											87.0	68.0	74.0					1																	53323088		692	1591	2283	53095676	SO:0001819	synonymous_variant	440590				CCDS44148.1	1p32.3	2013-01-17	2012-12-10		ENSG00000203995	ENSG00000203995		"""ZYG11 cell cycle regulator family"""	32058	protein-coding gene	gene with protein product			"""zyg-11 homolog A (C. elegans)"""				Standard	NM_001004339		Approved	ZYG11	uc001cuk.2	Q6WRX3	OTTHUMG00000008923	ENST00000371528.1:c.675C>G	1.37:g.53323088C>G			53095676	A6NCK5	Silent	SNP	ENST00000371528.1	37	CCDS44148.1																																																																																				0.393	ZYG11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024856.3	NM_001004339	
KIAA1107	23285	hgsc.bcm.edu	37	1	92643886	92643886	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:92643886G>T	ENST00000370378.4	+	7	1243	c.1145G>T	c.(1144-1146)aGt>aTt	p.S382I	KIAA1107_ENST00000409154.4_Missense_Mutation_p.S437I	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	437										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						AAGAAAGTCAGTGGCAAAGGA	0.368																																																	0			1											116.0	106.0	109.0					1																	92643886		692	1591	2283	92416474	SO:0001583	missense	23285			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.1145G>T	1.37:g.92643886G>T	ENSP00000359404:p.Ser382Ile		92416474	O14767|Q8N3X7	Missense_Mutation	SNP	ENST00000370378.4	37	CCDS44172.1	.	.	.	.	.	.	.	.	.	.	G	7.690	0.690938	0.15039	.	.	ENSG00000069712	ENST00000409154;ENST00000370378	T;T	0.05382	3.45;3.45	5.85	1.86	0.25419	.	1.189220	0.05894	N	0.628858	T	0.01092	0.0036	N	0.12182	0.205	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.47724	-0.9095	10	0.39692	T	0.17	.	3.1269	0.06411	0.3182:0.3884:0.2104:0.083	.	382	E9PEZ5	.	I	437;382	ENSP00000386957:S437I;ENSP00000359404:S382I	ENSP00000359404:S382I	S	+	2	0	KIAA1107	92416474	0.123000	0.22298	0.255000	0.24374	0.538000	0.34931	0.543000	0.23237	0.383000	0.24910	0.561000	0.74099	AGT		0.368	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028375.3	XM_034086	
AMY2B	280	hgsc.bcm.edu	37	1	104115837	104115837	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:104115837T>G	ENST00000361355.4	+	5	1084	c.468T>G	c.(466-468)tgT>tgG	p.C156W	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	156					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ATGGTAAATGTAAAACTGGAA	0.398																																																	0			1											206.0	221.0	216.0					1																	104115837		2203	4294	6497	103917360	SO:0001583	missense	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.468T>G	1.37:g.104115837T>G	ENSP00000354610:p.Cys156Trp		103917360	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	CCDS782.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.953003	0.53293	.	.	ENSG00000240038	ENST00000361355	D	0.97959	-4.63	4.58	2.27	0.28462	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98947	0.9642	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98038	1.0380	10	0.87932	D	0	.	7.079	0.25221	0.0:0.2546:0.0:0.7454	.	156	P19961	AMY2B_HUMAN	W	156	ENSP00000354610:C156W	ENSP00000354610:C156W	C	+	3	2	AMY2B	103917360	0.988000	0.35896	0.834000	0.33040	0.801000	0.45260	0.947000	0.29082	0.624000	0.30286	0.524000	0.50904	TGT		0.398	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978	
AMY2B	280	hgsc.bcm.edu	37	1	104118134	104118134	+	Missense_Mutation	SNP	G	G	A	rs150608402	byFrequency	TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:104118134G>A	ENST00000361355.4	+	9	1689	c.1073G>A	c.(1072-1074)cGt>cAt	p.R358H	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	358					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TCAAGCTACCGTTGGCCAAGA	0.338																																																	0			1						G	HIS/ARG	0,4406		0,0,2203	218.0	222.0	221.0		1073	1.2	0.5	1	dbSNP_134	221	3,8597	3.0+/-9.4	0,3,4297	no	missense	AMY2B	NM_020978.3	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	358/512	104118134	3,13003	2203	4300	6503	103919657	SO:0001583	missense	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1073G>A	1.37:g.104118134G>A	ENSP00000354610:p.Arg358His		103919657	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208692	0.39003	0.0	3.49E-4	ENSG00000240038	ENST00000361355	.	.	.	5.14	1.21	0.21127	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.055506	0.64402	D	0.000002	T	0.12902	0.0313	N	0.25647	0.755	0.32141	N	0.585544	B	0.15473	0.013	B	0.04013	0.001	T	0.18116	-1.0347	9	0.23302	T	0.38	.	9.3535	0.38153	0.2963:0.0:0.7037:0.0	.	358	P19961	AMY2B_HUMAN	H	358	.	ENSP00000354610:R358H	R	+	2	0	AMY2B	103919657	0.049000	0.20398	0.537000	0.28052	0.896000	0.52359	2.165000	0.42396	-0.050000	0.13356	0.563000	0.77884	CGT		0.338	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978	
MOV10	4343	hgsc.bcm.edu	37	1	113239068	113239068	+	Silent	SNP	G	G	T	rs61742214	byFrequency	TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:113239068G>T	ENST00000413052.2	+	13	2283	c.1893G>T	c.(1891-1893)tcG>tcT	p.S631S	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Silent_p.S631S|MOV10_ENST00000369644.1_Silent_p.S575S|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Silent_p.S631S	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	631					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GGTTGGTCTCGGCCCAGTTTC	0.562																																																	0			1											116.0	107.0	110.0					1																	113239068		2203	4300	6503	113040591	SO:0001819	synonymous_variant	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1893G>T	1.37:g.113239068G>T			113040591	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	ENST00000413052.2	37	CCDS853.1																																																																																				0.562	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	
IGSF3	3321	hgsc.bcm.edu	37	1	117142715	117142715	+	Missense_Mutation	SNP	T	T	C	rs142843832		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:117142715T>C	ENST00000369486.3	-	7	2642	c.1877A>G	c.(1876-1878)aAc>aGc	p.N626S	IGSF3_ENST00000318837.6_Missense_Mutation_p.N646S|IGSF3_ENST00000369483.1_Missense_Mutation_p.N646S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	626	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GCGGACGTTGTTGCTGGACTC	0.602													T|||	1	0.000199681	0.0008	0.0	5008	,	,		16224	0.0		0.0	False		,,,				2504	0.0																0			1						T	SER/ASN,SER/ASN	6,4400	11.4+/-27.6	0,6,2197	83.0	61.0	69.0		1877,1937	4.8	1.0	1	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense	IGSF3	NM_001007237.1,NM_001542.2	46,46	0,6,6497	CC,CT,TT		0.0,0.1362,0.0461	possibly-damaging,possibly-damaging	626/1195,646/1215	117142715	6,13000	2203	4300	6503	116944238	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1877A>G	1.37:g.117142715T>C	ENSP00000358498:p.Asn626Ser		116944238	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	11.96	1.795447	0.31777	0.001362	0.0	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.11712	2.75;2.75;2.75	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.184033	0.47852	D	0.000212	T	0.05686	0.0149	N	0.03608	-0.345	0.38402	D	0.945686	D;D;D	0.71674	0.961;0.998;0.968	P;D;P	0.64595	0.652;0.927;0.764	T	0.51687	-0.8674	10	0.28530	T	0.3	-60.2109	12.3358	0.55067	0.0:0.0:0.0:1.0	.	646;626;646	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	S	626;646;646	ENSP00000358498:N626S;ENSP00000358495:N646S;ENSP00000321184:N646S	ENSP00000321184:N646S	N	-	2	0	IGSF3	116944238	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.299000	0.59073	2.001000	0.58596	0.374000	0.22700	AAC		0.602	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
SPAG17	200162	hgsc.bcm.edu	37	1	118537087	118537087	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:118537087T>C	ENST00000336338.5	-	35	5185	c.5120A>G	c.(5119-5121)gAt>gGt	p.D1707G		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1707			D -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GACAATTGTATCTTCCTTTTT	0.408																																																	0			1											183.0	161.0	168.0					1																	118537087		2203	4300	6503	118338610	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5120A>G	1.37:g.118537087T>C	ENSP00000337804:p.Asp1707Gly		118338610	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.258963	0.23051	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19806	2.12	5.64	4.52	0.55395	.	0.551968	0.22144	N	0.064012	T	0.10551	0.0258	M	0.66939	2.045	0.09310	N	1	P	0.46142	0.873	B	0.41412	0.356	T	0.16748	-1.0392	10	0.66056	D	0.02	.	5.8512	0.18694	0.0:0.0832:0.1675:0.7493	.	1707	Q6Q759	SPG17_HUMAN	G	1707;187	ENSP00000337804:D1707G	ENSP00000337804:D1707G	D	-	2	0	SPAG17	118338610	0.013000	0.17824	0.011000	0.14972	0.009000	0.06853	1.432000	0.34936	1.160000	0.42584	0.528000	0.53228	GAT		0.408	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
FLG	2312	hgsc.bcm.edu	37	1	152279805	152279805	+	Silent	SNP	G	G	A	rs113878714	byFrequency	TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:152279805G>A	ENST00000368799.1	-	3	7592	c.7557C>T	c.(7555-7557)aaC>aaT	p.N2519N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2519	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGTTCATCGTTACGAGTTT	0.592									Ichthyosis				g|||	12	0.00239617	0.0076	0.0029	5008	,	,		20136	0.0		0.0	False		,,,				2504	0.0																0			1						G		28,4378	34.3+/-65.2	0,28,2175	361.0	336.0	344.0		7557	-3.9	0.0	1	dbSNP_132	344	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		0,28,6475	AA,AG,GG		0.0,0.6355,0.2153		2519/4062	152279805	28,12978	2203	4300	6503	150546429	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7557C>T	1.37:g.152279805G>A			150546429	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
LCE1E	353135	hgsc.bcm.edu	37	1	152759796	152759796	+	Silent	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:152759796G>A	ENST00000368770.3	+	2	74	c.21G>A	c.(19-21)caG>caA	p.Q7Q	LCE1E_ENST00000368771.1_Silent_p.Q7Q	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	7	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCAGAGCCAGCAGCAGTGCC	0.602																																																	0			1											120.0	128.0	125.0					1																	152759796		2203	4300	6503	151026420	SO:0001819	synonymous_variant	353135			BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.21G>A	1.37:g.152759796G>A			151026420	D3DV30	Silent	SNP	ENST00000368770.3	37	CCDS1024.1																																																																																				0.602	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353	
INSRR	3645	hgsc.bcm.edu	37	1	156821809	156821809	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:156821809G>T	ENST00000368195.3	-	3	1208	c.812C>A	c.(811-813)tCc>tAc	p.S271Y	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	271					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACAGCGCCAGGACTCATACTG	0.662																																																	0			1											24.0	24.0	24.0					1																	156821809		2202	4297	6499	155088433	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.812C>A	1.37:g.156821809G>T	ENSP00000357178:p.Ser271Tyr		155088433	O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.681167	0.68042	.	.	ENSG00000027644	ENST00000368195	T	0.32023	1.47	4.62	4.62	0.57501	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.983616	0.08276	N	0.970654	T	0.17662	0.0424	.	.	.	0.31067	N	0.713448	P	0.43938	0.822	B	0.41299	0.353	T	0.05194	-1.0900	9	0.72032	D	0.01	.	11.3961	0.49843	0.0:0.2952:0.7048:0.0	.	271	P14616	INSRR_HUMAN	Y	271	ENSP00000357178:S271Y	ENSP00000357178:S271Y	S	-	2	0	INSRR	155088433	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	4.524000	0.60552	2.419000	0.82065	0.456000	0.33151	TCC		0.662	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
CD1C	911	hgsc.bcm.edu	37	1	158262530	158262530	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:158262530G>T	ENST00000368170.3	+	4	1034	c.755G>T	c.(754-756)gGt>gTt	p.G252V		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	252	Ig-like.				antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.G252V(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ACTAAACATGGTGATATTCTT	0.532																																																	1	Substitution - Missense(1)	lung(1)	1											148.0	145.0	146.0					1																	158262530		2203	4300	6503	156529154	SO:0001583	missense	911			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.755G>T	1.37:g.158262530G>T	ENSP00000357152:p.Gly252Val		156529154	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.15|12.15	1.853116|1.853116	0.32699|0.32699	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000368169;ENST00000368170;ENST00000454192|ENST00000443761	T|.	0.02863|.	4.13|.	3.62|3.62	-0.814|-0.814	0.10846|0.10846	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);|.	0.601763|.	0.13907|.	N|.	0.354518|.	T|T	0.34745|0.34745	0.0908|0.0908	M|M	0.77820|0.77820	2.39|2.39	0.09310|0.09310	N|N	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.994;0.997|.	T|T	0.40869|0.40869	-0.9540|-0.9540	10|5	0.87932|.	D|.	0|.	.|.	6.4748|6.4748	0.22028|0.22028	0.5149:0.0:0.4851:0.0|0.5149:0.0:0.4851:0.0	.|.	252;252|.	E9PGC9;P29017|.	.;CD1C_HUMAN|.	V|C	252;252;55|186	ENSP00000357152:G252V|.	ENSP00000357151:G252V|.	G|W	+|+	2|3	0|0	CD1C|CD1C	156529154|156529154	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.018000|0.018000	0.13422|0.13422	-0.268000|-0.268000	0.09312|0.09312	-0.355000|-0.355000	0.07637|0.07637	GGT|TGG		0.532	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765	
CD1E	913	hgsc.bcm.edu	37	1	158325848	158325848	+	Missense_Mutation	SNP	G	G	A	rs371931193		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:158325848G>A	ENST00000368167.3	+	4	1096	c.857G>A	c.(856-858)cGg>cAg	p.R286Q	CD1E_ENST00000368166.3_Missense_Mutation_p.R97Q|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.R286Q|CD1E_ENST00000452291.2_Missense_Mutation_p.R97Q|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.R196Q|CD1E_ENST00000368156.1_Missense_Mutation_p.R196Q|CD1E_ENST00000444681.2_Missense_Mutation_p.R187Q|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R284Q|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	286	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CTGTCCTGTCGGGTGAAACAC	0.572																																																	0			1											69.0	73.0	71.0					1																	158325848		2203	4300	6503	156592472	SO:0001583	missense	913			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.857G>A	1.37:g.158325848G>A	ENSP00000357149:p.Arg286Gln		156592472	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860006	0.32884	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368160;ENST00000368156	T;T;T;T;T;T;T;T	0.02812	4.15;4.15;4.15;4.15;4.15;4.15;4.15;4.15	4.28	2.4	0.29515	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.439735	0.16938	N	0.193383	T	0.01905	0.0060	L	0.48174	1.505	0.09310	N	1	D;D;D;D;D;P;P;D;D;P;P	0.71674	0.989;0.998;0.997;0.977;0.993;0.936;0.954;0.991;0.982;0.661;0.718	P;P;P;P;P;B;B;P;P;B;B	0.52066	0.687;0.687;0.689;0.558;0.673;0.31;0.2;0.544;0.579;0.156;0.227	T	0.47315	-0.9127	10	0.49607	T	0.09	-10.4128	6.2352	0.20758	0.2296:0.0:0.7704:0.0	.	97;187;284;286;187;196;97;286;286;97;196	B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-2;P15812;P15812-8;P15812-6	.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.	Q	284;187;286;97;196;97;286;196	ENSP00000401957:R284Q;ENSP00000402906:R187Q;ENSP00000357149:R286Q;ENSP00000416228:R97Q;ENSP00000357147:R196Q;ENSP00000357148:R97Q;ENSP00000357142:R286Q;ENSP00000357138:R196Q	ENSP00000357138:R196Q	R	+	2	0	CD1E	156592472	0.000000	0.05858	0.030000	0.17652	0.847000	0.48162	0.016000	0.13377	0.456000	0.26937	0.563000	0.77884	CGG		0.572	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893	
SPTA1	6708	hgsc.bcm.edu	37	1	158606540	158606540	+	Missense_Mutation	SNP	A	A	G	rs377763465		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:158606540A>G	ENST00000368147.4	-	37	5381	c.5201T>C	c.(5200-5202)aTa>aCa	p.I1734T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1734					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTCACTCGTATCAACTTCTC	0.473																																																	0			1						A	THR/ILE	0,3762		0,0,1881	110.0	107.0	108.0		5201	2.9	0.0	1		108	1,8221		0,1,4110	no	missense	SPTA1	NM_003126.2	89	0,1,5991	GG,GA,AA		0.0122,0.0,0.0083	benign	1734/2420	158606540	1,11983	1881	4111	5992	156873164	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5201T>C	1.37:g.158606540A>G	ENSP00000357129:p.Ile1734Thr		156873164	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	5.789	0.329980	0.10956	0.0	1.22E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.46451	0.87;0.87	5.26	2.94	0.34122	.	.	.	.	.	T	0.08403	0.0209	N	0.17474	0.49	0.09310	N	1	B	0.14012	0.009	B	0.23150	0.044	T	0.40813	-0.9543	9	0.13853	T	0.58	.	6.1365	0.20237	0.754:0.1629:0.0831:0.0	.	1734	P02549	SPTA1_HUMAN	T	1734	ENSP00000357130:I1734T;ENSP00000357129:I1734T	ENSP00000357129:I1734T	I	-	2	0	SPTA1	156873164	0.431000	0.25546	0.002000	0.10522	0.008000	0.06430	5.254000	0.65457	0.460000	0.27045	0.528000	0.53228	ATA		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
TNFSF4	7292	hgsc.bcm.edu	37	1	173157660	173157660	+	Splice_Site	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:173157660C>T	ENST00000281834.3	-	2	338	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	TNFSF4_ENST00000488053.1_5'UTR|TNFSF4_ENST00000367718.1_Splice_Site_p.E18K	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	68					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CAATACTTACCGGTAAATTGT	0.318																																																	0			1											73.0	82.0	79.0					1																	173157660		2203	4299	6502	171424283	SO:0001630	splice_region_variant	7292			D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11934	protein-coding gene	gene with protein product		603594	"""tax-transcriptionally activated glycoprotein 1, 34kD"""	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.202+1G>A	1.37:g.173157660C>T			171424283	Q5JZA5|Q8IV74|Q9HCN9	Missense_Mutation	SNP	ENST00000281834.3	37	CCDS1306.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.712978	0.00706	.	.	ENSG00000117586	ENST00000367718;ENST00000281834;ENST00000545292	.	.	.	4.87	-4.42	0.03579	Tumour necrosis factor (1);Tumour necrosis factor-like (1);	1.761270	0.02461	N	0.086582	T	0.02767	0.0083	N	0.01352	-0.895	0.19300	N	0.999976	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15263	-1.0443	9	0.08381	T	0.77	1.7144	7.0802	0.25227	0.0:0.4722:0.138:0.3898	.	68;18	P23510;Q8IV74	TNFL4_HUMAN;.	K	18;68;18	.	ENSP00000281834:E68K	E	-	1	0	TNFSF4	171424283	0.001000	0.12720	0.006000	0.13384	0.019000	0.09904	-0.955000	0.03869	-0.924000	0.03780	-0.793000	0.03317	GAA		0.318	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1		Missense_Mutation
RNASEL	6041	hgsc.bcm.edu	37	1	182544693	182544693	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:182544693T>C	ENST00000367559.3	-	7	2313	c.2060A>G	c.(2059-2061)gAc>gGc	p.D687G	RNASEL_ENST00000444138.1_Missense_Mutation_p.D687G	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	687	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CAGGGAAGGGTCTCCAATTTT	0.398																																																	0			1											83.0	80.0	81.0					1																	182544693		2203	4300	6503	180811316	SO:0001583	missense	6041			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.2060A>G	1.37:g.182544693T>C	ENSP00000356530:p.Asp687Gly		180811316	Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.477107	0.63849	.	.	ENSG00000135828	ENST00000367559;ENST00000444138	T;T	0.30981	1.51;1.51	5.11	3.96	0.45880	PUG domain (1);KEN domain, ribonuclease activator (2);	0.654660	0.14485	N	0.316728	T	0.41558	0.1164	L	0.56769	1.78	0.80722	D	1	P	0.51537	0.946	P	0.53224	0.721	T	0.20571	-1.0271	10	0.72032	D	0.01	-7.2216	9.2431	0.37509	0.1613:0.0:0.0:0.8387	.	687	Q05823	RN5A_HUMAN	G	687	ENSP00000356530:D687G;ENSP00000411147:D687G	ENSP00000356530:D687G	D	-	2	0	RNASEL	180811316	0.781000	0.28676	0.458000	0.27068	0.041000	0.13682	2.589000	0.46145	0.870000	0.35726	0.533000	0.62120	GAC		0.398	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133	
CFHR5	81494	hgsc.bcm.edu	37	1	196963367	196963367	+	Silent	SNP	T	T	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:196963367T>G	ENST00000256785.4	+	4	697	c.588T>G	c.(586-588)ccT>ccG	p.P196P	CFHR5_ENST00000367414.5_Silent_p.P220P			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	196	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GGTGGTCACCTAACTTTCCAA	0.318																																																	0			1											88.0	97.0	94.0					1																	196963367		2203	4300	6503	195229990	SO:0001819	synonymous_variant	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.588T>G	1.37:g.196963367T>G			195229990	Q2NKK2	Silent	SNP	ENST00000256785.4	37	CCDS1387.1																																																																																				0.318	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787	
KDM5B	10765	hgsc.bcm.edu	37	1	202699084	202699084	+	Silent	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:202699084T>C	ENST00000367265.3	-	26	5412	c.4248A>G	c.(4246-4248)agA>agG	p.R1416R	KDM5B_ENST00000367264.2_Silent_p.R1452R	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1416					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGAGGCCCTCTCTTTCCAGGC	0.463																																																	0			1											105.0	99.0	101.0					1																	202699084		2203	4300	6503	200965707	SO:0001819	synonymous_variant	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4248A>G	1.37:g.202699084T>C			200965707	O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	CCDS30974.1																																																																																				0.463	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618	
OBSCN	84033	hgsc.bcm.edu	37	1	228432236	228432236	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:228432236G>A	ENST00000422127.1	+	11	3489	c.3445G>A	c.(3445-3447)Ggg>Agg	p.G1149R	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.G1149R|OBSCN_ENST00000570156.2_Missense_Mutation_p.G1241R|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1149	Ig-like 11.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGTGAGGCTGGGGGCCAGAG	0.542																																																	0			1											93.0	101.0	98.0					1																	228432236		2026	4177	6203	226498859	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3445G>A	1.37:g.228432236G>A	ENSP00000409493:p.Gly1149Arg		226498859	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	12.44	1.938851	0.34189	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.11930	2.73;2.73	3.59	2.67	0.31697	Immunoglobulin subtype (1);	0.154071	0.41396	N	0.000898	T	0.26231	0.0640	L	0.50847	1.595	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.978	T	0.01795	-1.1272	10	0.20046	T	0.44	.	11.0641	0.47966	0.0924:0.0:0.9076:0.0	.	1149;1149	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	1149	ENSP00000284548:G1149R;ENSP00000409493:G1149R	ENSP00000284548:G1149R	G	+	1	0	OBSCN	226498859	1.000000	0.71417	0.987000	0.45799	0.385000	0.30292	5.659000	0.68010	0.711000	0.32018	0.449000	0.29647	GGG		0.542	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
RYR2	6262	hgsc.bcm.edu	37	1	237796984	237796984	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:237796984T>C	ENST00000366574.2	+	43	6979	c.6662T>C	c.(6661-6663)tTa>tCa	p.L2221S	RYR2_ENST00000542537.1_Missense_Mutation_p.L2205S|RYR2_ENST00000360064.6_Missense_Mutation_p.L2219S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2221	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCAGTTATTTACTGGAAAAC	0.333																																																	0			1											134.0	126.0	129.0					1																	237796984		1832	4089	5921	235863607	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6662T>C	1.37:g.237796984T>C	ENSP00000355533:p.Leu2221Ser		235863607	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315799	0.81469	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.90732	-2.72;-2.72;-2.72	4.9	4.9	0.64082	Intracellular calcium-release channel (1);	0.000000	0.45126	D	0.000394	D	0.94971	0.8373	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95601	0.8663	10	0.87932	D	0	-8.6294	14.8247	0.70101	0.0:0.0:0.0:1.0	.	2221	Q92736	RYR2_HUMAN	S	2221;2219;2205	ENSP00000355533:L2221S;ENSP00000353174:L2219S;ENSP00000443798:L2205S	ENSP00000353174:L2219S	L	+	2	0	RYR2	235863607	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.950000	0.87804	1.957000	0.56846	0.460000	0.39030	TTA		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
PLD5	200150	hgsc.bcm.edu	37	1	242264040	242264040	+	Silent	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr1:242264040T>C	ENST00000536534.2	-	9	1525	c.1284A>G	c.(1282-1284)gaA>gaG	p.E428E	PLD5_ENST00000442594.2_Silent_p.E336E|PLD5_ENST00000427495.1_Silent_p.E366E			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	428						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GATTCTTTTGTTCTTTTGTAG	0.408																																																	0			1											214.0	187.0	196.0					1																	242264040		2203	4300	6503	240330663	SO:0001819	synonymous_variant	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1284A>G	1.37:g.242264040T>C			240330663	A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	ENST00000536534.2	37	CCDS1621.2																																																																																				0.408	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666	
OR51B4	79339	hgsc.bcm.edu	37	11	5322807	5322807	+	Missense_Mutation	SNP	G	G	A	rs142325891	byFrequency	TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr11:5322807G>A	ENST00000380224.1	-	1	419	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	124					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGGTGTGCGGATGGCAATG	0.453																																																	0			11						G	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	186.0	174.0	178.0		370	-3.1	0.0	11	dbSNP_134	178	0,8594		0,0,4297	no	missense	OR51B4	NM_033179.2	180	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign	124/311	5322807	1,12995	2201	4297	6498	5279383	SO:0001583	missense	79339			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.370C>T	11.37:g.5322807G>A	ENSP00000369573:p.Arg124Cys		5279383	A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.502499	0.00157	2.27E-4	0.0	ENSG00000183251	ENST00000380224	T	0.10005	2.92	4.71	-3.13	0.05266	GPCR, rhodopsin-like superfamily (1);	0.466636	0.20302	N	0.095010	T	0.02494	0.0076	N	0.00966	-1.09	0.09310	N	0.999999	B	0.17465	0.022	B	0.12837	0.008	T	0.37526	-0.9702	10	0.02654	T	1	.	12.9978	0.58657	0.7448:0.0:0.2552:0.0	.	124	Q9Y5P0	O51B4_HUMAN	C	124	ENSP00000369573:R124C	ENSP00000369573:R124C	R	-	1	0	OR51B4	5279383	0.000000	0.05858	0.005000	0.12908	0.053000	0.15095	-1.912000	0.01582	-0.884000	0.03976	-0.126000	0.14955	CGC		0.453	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179	
OR2D3	120775	hgsc.bcm.edu	37	11	6942322	6942322	+	Missense_Mutation	SNP	C	C	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr11:6942322C>G	ENST00000317834.3	+	1	118	c.90C>G	c.(88-90)ttC>ttG	p.F30L		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTTTATCTTCCTGGGTCTTT	0.408																																																	0			11											93.0	96.0	95.0					11																	6942322		2201	4296	6497	6898898	SO:0001583	missense	120775			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.90C>G	11.37:g.6942322C>G	ENSP00000320560:p.Phe30Leu		6898898	B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	C	7.663	0.685261	0.14973	.	.	ENSG00000178358	ENST00000317834	T	0.00606	6.26	5.16	1.01	0.19927	.	1.060660	0.07410	N	0.892250	T	0.00178	0.0005	N	0.00113	-2.09	0.24373	N	0.994825	B	0.02656	0.0	B	0.04013	0.001	T	0.45071	-0.9286	10	0.02654	T	1	-15.7798	2.4247	0.04456	0.1377:0.4163:0.2847:0.1613	.	30	Q8NGH3	OR2D3_HUMAN	L	30	ENSP00000320560:F30L	ENSP00000320560:F30L	F	+	3	2	OR2D3	6898898	0.000000	0.05858	0.936000	0.37596	0.680000	0.39746	-0.903000	0.04084	0.101000	0.17610	0.655000	0.94253	TTC		0.408	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684	
CTR9	9646	hgsc.bcm.edu	37	11	10778348	10778348	+	Silent	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr11:10778348C>T	ENST00000361367.2	+	5	981	c.555C>T	c.(553-555)taC>taT	p.Y185Y		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	185					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTCTTGCTTACTATAAGAAAG	0.343																																																	0			11											111.0	121.0	118.0					11																	10778348		2201	4294	6495	10734924	SO:0001819	synonymous_variant	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.555C>T	11.37:g.10778348C>T			10734924	D3DQV8|Q15015	Silent	SNP	ENST00000361367.2	37	CCDS7805.1																																																																																				0.343	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	
OR4B1	119765	hgsc.bcm.edu	37	11	48239031	48239031	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr11:48239031A>G	ENST00000309562.2	+	1	688	c.670A>G	c.(670-672)Agg>Ggg	p.R224G		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	224						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(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTCAACTTGAGGAACCATTC	0.468																																																	0			11											143.0	112.0	122.0					11																	48239031		2201	4298	6499	48195607	SO:0001583	missense	119765			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.670A>G	11.37:g.48239031A>G	ENSP00000311605:p.Arg224Gly		48195607	Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.082871	0.36758	.	.	ENSG00000175619	ENST00000309562	T	0.00253	8.43	5.5	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.00552	0.0018	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.34601	-0.9822	10	0.87932	D	0	.	10.7372	0.46133	0.84:0.16:0.0:0.0	.	224	Q8NGF8	OR4B1_HUMAN	G	224	ENSP00000311605:R224G	ENSP00000311605:R224G	R	+	1	2	OR4B1	48195607	0.103000	0.21917	0.971000	0.41717	0.326000	0.28443	2.003000	0.40844	0.879000	0.35944	0.411000	0.27672	AGG		0.468	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470	
OR4S2	219431	hgsc.bcm.edu	37	11	55418984	55418984	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr11:55418984G>T	ENST00000312422.2	+	1	605	c.605G>T	c.(604-606)gGt>gTt	p.G202V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)				GCCAACAGTGGTACCATTGCT	0.463																																																	0			11											237.0	180.0	200.0					11																	55418984		2177	4044	6221	55175560	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.605G>T	11.37:g.55418984G>T	ENSP00000310337:p.Gly202Val		55175560	Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638247	0.47153	.	.	ENSG00000174982	ENST00000312422	T	0.33865	1.39	5.35	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000049	T	0.52677	0.1749	L	0.58810	1.83	0.22648	N	0.998894	D	0.89917	1.0	D	0.78314	0.991	T	0.41179	-0.9523	10	0.87932	D	0	.	10.4935	0.44764	0.0:0.0:0.8064:0.1936	.	202	Q8NH73	OR4S2_HUMAN	V	202	ENSP00000310337:G202V	ENSP00000310337:G202V	G	+	2	0	OR4S2	55175560	0.060000	0.20803	0.185000	0.23176	0.741000	0.42261	-0.232000	0.09055	2.508000	0.84585	0.542000	0.68232	GGT		0.463	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059	
TIGD3	220359	hgsc.bcm.edu	37	11	65123728	65123728	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr11:65123728C>T	ENST00000309880.5	+	2	656	c.449C>T	c.(448-450)cCt>cTt	p.P150L		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	150						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CCTGAGCCACCTCCCCCGGGG	0.607																																																	0			11											78.0	84.0	82.0					11																	65123728		2200	4295	6495	64880304	SO:0001583	missense	220359				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.449C>T	11.37:g.65123728C>T	ENSP00000308354:p.Pro150Leu		64880304		Missense_Mutation	SNP	ENST00000309880.5	37	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782454	0.31502	.	.	ENSG00000173825	ENST00000309880	T	0.13657	2.57	3.81	3.81	0.43845	.	0.000000	0.34025	N	0.004323	T	0.11793	0.0287	L	0.27053	0.805	0.21740	N	0.99957	D	0.54207	0.965	P	0.45449	0.481	T	0.11397	-1.0589	10	0.46703	T	0.11	-7.0416	11.4586	0.50197	0.0:1.0:0.0:0.0	.	150	Q6B0B8	TIGD3_HUMAN	L	150	ENSP00000308354:P150L	ENSP00000308354:P150L	P	+	2	0	TIGD3	64880304	0.009000	0.17119	0.168000	0.22838	0.388000	0.30384	1.087000	0.30865	2.159000	0.67721	0.456000	0.33151	CCT		0.607	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719	
FAM168A	23201	hgsc.bcm.edu	37	11	73122548	73122548	+	Missense_Mutation	SNP	G	G	A	rs200934649		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr11:73122548G>A	ENST00000064778.4	-	6	622	c.338C>T	c.(337-339)cCg>cTg	p.P113L	RP11-809N8.4_ENST00000536855.1_RNA|FAM168A_ENST00000450446.2_Intron|RP11-809N8.4_ENST00000542598.1_RNA|FAM168A_ENST00000356467.4_Missense_Mutation_p.P104L			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	113										endometrium(3)|kidney(1)|lung(1)	5						ACTCTGGGTCGGTGGGACCTT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		15258	0.0		0.001	False		,,,				2504	0.0																0			11											79.0	79.0	79.0					11																	73122548		1928	4110	6038	72800196	SO:0001583	missense	23201			BC014932	CCDS41689.1, CCDS66165.1, CCDS73346.1	11q13.4	2008-06-11	2008-06-11	2008-06-11		ENSG00000054965			28999	protein-coding gene	gene with protein product	"""tongue cancer chemotherapy resistance-associated protein 1"""		"""KIAA0280"""	KIAA0280			Standard	XM_005273852		Approved	TCRP1	uc001oty.1	Q92567		ENST00000064778.4:c.338C>T	11.37:g.73122548G>A	ENSP00000064778:p.Pro113Leu		72800196	A2ICY2|A2ID81|Q86UG2	Missense_Mutation	SNP	ENST00000064778.4	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.41	3.381601	0.61845	.	.	ENSG00000054965	ENST00000064778;ENST00000356467	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	L	0.47716	1.5	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.48270	0.572;0.572	T	0.51156	-0.8741	9	0.11182	T	0.66	.	18.9043	0.92454	0.0:0.0:1.0:0.0	.	113;104	Q92567;Q92567-2	F168A_HUMAN;.	L	113;104	.	ENSP00000064778:P113L	P	-	2	0	FAM168A	72800196	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.504000	0.60414	2.710000	0.92621	0.650000	0.86243	CCG		0.532	FAM168A-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000397424.1	NM_015159	
ATM	472	hgsc.bcm.edu	37	11	108126967	108126967	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr11:108126967G>T	ENST00000452508.2	+	15	2339	c.2150G>T	c.(2149-2151)cGg>cTg	p.R717L	ATM_ENST00000278616.4_Missense_Mutation_p.R717L			Q13315	ATM_HUMAN	ATM serine/threonine kinase	717					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)			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)	ACTCTTGTCCGGTGTTCACGT	0.328			"""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"""	0			11											104.0	97.0	99.0					11																	108126967		2201	4298	6499	107632177	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.2150G>T	11.37:g.108126967G>T	ENSP00000388058:p.Arg717Leu		107632177	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126006	0.56721	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.75367	-0.93;-0.93;-0.93	5.45	3.39	0.38822	Armadillo-type fold (1);	0.198965	0.44902	D	0.000406	T	0.70011	0.3175	M	0.67953	2.075	0.35212	D	0.775232	P	0.36282	0.546	B	0.33846	0.171	T	0.76310	-0.3006	10	0.62326	D	0.03	.	11.7433	0.51804	0.1528:0.0:0.8472:0.0	.	717	Q13315	ATM_HUMAN	L	717	ENSP00000435747:R717L;ENSP00000278616:R717L;ENSP00000388058:R717L	ENSP00000278616:R717L	R	+	2	0	ATM	107632177	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	1.921000	0.40035	0.657000	0.30906	0.557000	0.71058	CGG		0.328	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
CD3D	915	hgsc.bcm.edu	37	11	118211203	118211203	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr11:118211203T>C	ENST00000300692.4	-	2	297	c.161A>G	c.(160-162)gAc>gGc	p.D54G	CD3D_ENST00000392884.2_Missense_Mutation_p.D54G|CD3D_ENST00000529594.1_Intron	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	54					cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	TCTTGTAATGTCTGAGAGCAG	0.458																																																	0			11											223.0	165.0	184.0					11																	118211203		2200	4296	6496	117716413	SO:0001583	missense	915			X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"""CD molecules"""	1673	protein-coding gene	gene with protein product		186790	"""CD3d antigen, delta polypeptide (TiT3 complex)"""	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.161A>G	11.37:g.118211203T>C	ENSP00000300692:p.Asp54Gly		117716413	A8MVP6	Missense_Mutation	SNP	ENST00000300692.4	37	CCDS8394.1	.	.	.	.	.	.	.	.	.	.	T	9.914	1.210438	0.22289	.	.	ENSG00000167286	ENST00000300692;ENST00000392884	T;T	0.65364	-0.15;0.87	5.36	-0.942	0.10398	Immunoglobulin-like fold (1);	2.500750	0.00906	N	0.002419	T	0.45637	0.1352	N	0.14661	0.345	0.09310	N	1	B;B	0.18741	0.03;0.0	B;B	0.15870	0.014;0.0	T	0.29882	-0.9997	10	0.30078	T	0.28	1.3961	8.9861	0.35994	0.0:0.4263:0.0:0.5737	.	54;54	A8MVP6;P04234	.;CD3D_HUMAN	G	54	ENSP00000300692:D54G;ENSP00000376622:D54G	ENSP00000300692:D54G	D	-	2	0	CD3D	117716413	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.646000	0.05403	-0.066000	0.12998	-0.379000	0.06801	GAC		0.458	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392128.1	NM_000732	
OPCML	4978	hgsc.bcm.edu	37	11	132527056	132527056	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr11:132527056T>G	ENST00000331898.7	-	2	904	c.326A>C	c.(325-327)gAc>gCc	p.D109A	OPCML_ENST00000524381.1_Missense_Mutation_p.D102A|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.D109A|OPCML_ENST00000374778.4_Missense_Mutation_p.D68A	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	109	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CGGACCTTCGTCATACACATC	0.502																																																	0			11											250.0	194.0	213.0					11																	132527056		2201	4297	6498	132032266	SO:0001583	missense	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.326A>C	11.37:g.132527056T>G	ENSP00000330862:p.Asp109Ala		132032266	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.893519	0.91889	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	H	0.96301	3.8	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	D	0.89002	0.3422	10	0.87932	D	0	-23.7099	16.1846	0.81942	0.0:0.0:0.0:1.0	.	109;102;109;109	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	A	109;102;68;76;109	ENSP00000330862:D109A;ENSP00000434750:D102A;ENSP00000363910:D68A;ENSP00000445496:D109A	ENSP00000330862:D109A	D	-	2	0	OPCML	132032266	1.000000	0.71417	0.939000	0.37840	0.932000	0.56968	7.985000	0.88162	2.229000	0.72834	0.533000	0.62120	GAC		0.502	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393	
HFE	3077	hgsc.bcm.edu	37	6	26091083	26091083	+	Missense_Mutation	SNP	C	C	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr6:26091083C>G	ENST00000357618.5	+	2	213	c.91C>G	c.(91-93)Cac>Gac	p.H31D	HFE_ENST00000461397.1_Missense_Mutation_p.H31D|HFE_ENST00000488199.1_Intron|HFE_ENST00000353147.5_Intron|HFE_ENST00000317896.7_Missense_Mutation_p.H31D|HFE_ENST00000336625.8_Missense_Mutation_p.H31D|HFE_ENST00000397022.3_Intron|HFE_ENST00000349999.4_Intron|HFE_ENST00000470149.1_Missense_Mutation_p.H31D|HFE_ENST00000309234.6_Missense_Mutation_p.H31D|HFE_ENST00000352392.4_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	31	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACACTCTCTGCACTACCTCTT	0.512									Hemochromatosis																																								0			6											180.0	164.0	169.0					6																	26091083		2203	4300	6503	26199062	SO:0001583	missense	3077	Familial Cancer Database			CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.91C>G	6.37:g.26091083C>G	ENSP00000417404:p.His31Asp		26199062	B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	ENST00000357618.5	37	CCDS4578.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026614	0.54683	.	.	ENSG00000010704	ENST00000317896;ENST00000535098;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000309234	T;T;T;T;T;T	0.00691	5.84;5.84;5.84;5.84;5.84;5.84	5.44	2.66	0.31614	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.744352	0.12311	N	0.480154	T	0.00496	0.0016	L	0.39245	1.2	0.09310	N	1	P;P;P;P;P	0.47962	0.903;0.531;0.531;0.801;0.834	P;B;B;B;P	0.48089	0.566;0.101;0.101;0.338;0.469	T	0.52540	-0.8562	10	0.87932	D	0	.	6.3854	0.21558	0.3227:0.5928:0.0:0.0844	.	31;31;31;31;31	Q6B0J5;Q30201-7;Q30201-10;Q30201-3;Q30201	.;.;.;.;HFE_HUMAN	D	31	ENSP00000313776:H31D;ENSP00000417404:H31D;ENSP00000419725:H31D;ENSP00000337819:H31D;ENSP00000420802:H31D;ENSP00000311698:H31D	ENSP00000311698:H31D	H	+	1	0	HFE	26199062	0.004000	0.15560	0.243000	0.24186	0.989000	0.77384	0.192000	0.17096	0.388000	0.25054	0.655000	0.94253	CAC		0.512	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1		
OR2J2	26707	hgsc.bcm.edu	37	6	29141602	29141602	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr6:29141602C>A	ENST00000377167.2	+	1	292	c.190C>A	c.(190-192)Ctt>Att	p.L64I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTACTTCTTCCTTTCAAACCT	0.488																																																	0			6											159.0	150.0	153.0					6																	29141602		2031	4227	6258	29249581	SO:0001583	missense	26707				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.190C>A	6.37:g.29141602C>A	ENSP00000366372:p.Leu64Ile		29249581	A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759357	0.31137	.	.	ENSG00000204700	ENST00000377167	T	0.13778	2.56	2.3	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.25901	0.0631	M	0.87900	2.915	0.31825	N	0.625468	D	0.76494	0.999	D	0.83275	0.996	T	0.04509	-1.0946	9	0.87932	D	0	.	7.4684	0.27334	0.2581:0.7419:0.0:0.0	.	64	O76002	OR2J2_HUMAN	I	64	ENSP00000366372:L64I	ENSP00000366372:L64I	L	+	1	0	OR2J2	29249581	0.470000	0.25854	1.000000	0.80357	0.390000	0.30446	-0.050000	0.11904	1.265000	0.44215	0.205000	0.17691	CTT		0.488	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2		
OR2H1	26716	hgsc.bcm.edu	37	6	29429933	29429933	+	Missense_Mutation	SNP	C	C	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr6:29429933C>G	ENST00000377136.1	+	4	852	c.387C>G	c.(385-387)caC>caG	p.H129Q	OR2H1_ENST00000396792.2_Missense_Mutation_p.H129Q|OR2H1_ENST00000377132.1_Missense_Mutation_p.H129Q|OR2H1_ENST00000377133.1_Missense_Mutation_p.H129Q|OR2H1_ENST00000442615.1_Missense_Mutation_p.H129Q|OR2H1_ENST00000473369.1_3'UTR			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						AGCCCCTCCACTATGCCACCA	0.587																																																	0			6											166.0	172.0	170.0					6																	29429933		1510	2708	4218	29537912	SO:0001583	missense	26716			AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.387C>G	6.37:g.29429933C>G	ENSP00000366340:p.His129Gln		29537912	B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	C	6.689	0.495696	0.12762	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.01152	5.26;5.26;5.26;5.26;5.26	2.92	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.201508	0.25601	N	0.029544	T	0.00552	0.0018	M	0.71581	2.175	0.24460	N	0.994442	B	0.24368	0.102	B	0.17433	0.018	T	0.46582	-0.9181	10	0.62326	D	0.03	.	3.9555	0.09388	0.17:0.5357:0.0:0.2943	.	129	Q9GZK4	OR2H1_HUMAN	Q	129	ENSP00000366340:H129Q;ENSP00000366337:H129Q;ENSP00000393254:H129Q;ENSP00000366336:H129Q;ENSP00000380010:H129Q	ENSP00000366336:H129Q	H	+	3	2	OR2H1	29537912	0.000000	0.05858	0.996000	0.52242	0.425000	0.31504	-1.958000	0.01519	0.200000	0.20447	-0.369000	0.07265	CAC		0.587	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3		
SLC39A7	7922	hgsc.bcm.edu	37	6	33171361	33171361	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr6:33171361G>T	ENST00000374677.3	+	7	1554	c.1181G>T	c.(1180-1182)gGc>gTc	p.G394V	RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000544186.1_5'Flank|HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.G394V	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	394					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GCACTGGCAGGCACAGCCTGT	0.537																																																	0			6											69.0	72.0	71.0					6																	33171361		2015	4169	6184	33279339	SO:0001583	missense	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1181G>T	6.37:g.33171361G>T	ENSP00000363809:p.Gly394Val		33279339	B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	37	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128440	0.77549	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.75260	-0.92;-0.92	4.79	4.79	0.61399	.	0.117700	0.56097	D	0.000025	D	0.89969	0.6869	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93052	0.6466	10	0.87932	D	0	-13.1473	15.3789	0.74637	0.0:0.0:1.0:0.0	.	375;394	B4DVK8;Q92504	.;S39A7_HUMAN	V	394;375;299;394	ENSP00000363807:G394V;ENSP00000363809:G394V	ENSP00000363807:G394V	G	+	2	0	SLC39A7	33279339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.494000	0.84150	0.549000	0.68633	GGC		0.537	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979	
C6orf222	389384	hgsc.bcm.edu	37	6	36293094	36293094	+	Silent	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr6:36293094T>C	ENST00000437635.2	-	6	1311	c.1134A>G	c.(1132-1134)ggA>ggG	p.G378G		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	378										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GAAGCTCCTCTCCAGGTTCCT	0.567																																																	0			6											62.0	66.0	65.0					6																	36293094		2203	4300	6503	36401072	SO:0001819	synonymous_variant	389384				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1134A>G	6.37:g.36293094T>C			36401072	B2RTY8	Silent	SNP	ENST00000437635.2	37	CCDS34439.1																																																																																				0.567	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903	
BAI3	577	hgsc.bcm.edu	37	6	70049302	70049302	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr6:70049302A>G	ENST00000370598.1	+	26	4186	c.3365A>G	c.(3364-3366)gAt>gGt	p.D1122G	BAI3_ENST00000546190.1_Missense_Mutation_p.D86G|BAI3_ENST00000238918.8_Missense_Mutation_p.D328G	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1122					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)				GCCATGACAGATAAACGCTCC	0.463																																																	0			6											297.0	272.0	281.0					6																	70049302		2203	4300	6503	70106023	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.3365A>G	6.37:g.70049302A>G	ENSP00000359630:p.Asp1122Gly		70106023	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.346845	0.61073	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.47177	0.85;0.85;0.85	5.74	5.74	0.90152	GPCR, family 2-like (1);	0.098091	0.64402	D	0.000003	T	0.52175	0.1718	L	0.39692	1.235	0.58432	D	0.999999	D;D;P	0.69078	0.997;0.997;0.846	D;D;P	0.83275	0.996;0.994;0.515	T	0.54159	-0.8335	10	0.48119	T	0.1	.	16.0356	0.80625	1.0:0.0:0.0:0.0	.	328;1122;1122	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	G	1122;328;86	ENSP00000359630:D1122G;ENSP00000238918:D328G;ENSP00000441821:D86G	ENSP00000238918:D328G	D	+	2	0	BAI3	70106023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.187000	0.69744	0.528000	0.53228	GAT		0.463	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
FAM184A	79632	hgsc.bcm.edu	37	6	119324731	119324731	+	Silent	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr6:119324731T>C	ENST00000338891.7	-	8	2315	c.1872A>G	c.(1870-1872)gaA>gaG	p.E624E	FAM184A_ENST00000521531.1_Silent_p.E624E|FAM184A_ENST00000352896.5_Silent_p.E504E|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Silent_p.E504E	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	624						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTTCTCTTCTTCTTTCATGG	0.333																																																	0			6											104.0	95.0	98.0					6																	119324731		1829	4089	5918	119366430	SO:0001819	synonymous_variant	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1872A>G	6.37:g.119324731T>C			119366430	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	CCDS43499.1																																																																																				0.333	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
MAP3K5	4217	hgsc.bcm.edu	37	6	136878914	136878914	+	Missense_Mutation	SNP	A	A	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr6:136878914A>C	ENST00000359015.4	-	30	4467	c.4107T>G	c.(4105-4107)ttT>ttG	p.F1369L	MAP3K5_ENST00000355845.4_Missense_Mutation_p.F616L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1369					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GTTTGTTTCGAAAGTCAATGA	0.408																																																	0			6											141.0	123.0	129.0					6																	136878914		2203	4300	6503	136920607	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.4107T>G	6.37:g.136878914A>C	ENSP00000351908:p.Phe1369Leu		136920607	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.803123	0.50315	.	.	ENSG00000197442	ENST00000359015;ENST00000355845	D;D	0.85773	-2.03;-2.03	5.46	1.7	0.24286	Sterile alpha motif/pointed domain (1);	0.246535	0.42548	D	0.000683	T	0.58666	0.2138	L	0.36672	1.1	0.33267	D	0.560454	B	0.20887	0.049	B	0.19148	0.024	T	0.30119	-0.9989	10	0.22109	T	0.4	.	8.1104	0.30911	0.6581:0.0:0.3419:0.0	.	1369	Q99683	M3K5_HUMAN	L	1369;616	ENSP00000351908:F1369L;ENSP00000348104:F616L	ENSP00000348104:F616L	F	-	3	2	MAP3K5	136920607	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.305000	0.33493	0.050000	0.15949	0.533000	0.62120	TTT		0.408	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		
ADGB	79747	hgsc.bcm.edu	37	6	146985395	146985395	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr6:146985395T>C	ENST00000397944.3	+	6	747	c.671T>C	c.(670-672)cTa>cCa	p.L224P	ADGB_ENST00000367493.3_5'UTR	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin	224	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.			Missing (in Ref. 1; AL832192). {ECO:0000305}.	oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			breast(1)|endometrium(2)|kidney(2)	5						GATAACAATCTATTGCTTCCA	0.328																																																	0			6											198.0	168.0	177.0					6																	146985395		692	1591	2283	147027088	SO:0001583	missense	79747			AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.671T>C	6.37:g.146985395T>C	ENSP00000381036:p.Leu224Pro		147027088	Q5T402|Q5T904|Q5T905	Missense_Mutation	SNP	ENST00000397944.3	37		.	.	.	.	.	.	.	.	.	.	T	13.41	2.228835	0.39399	.	.	ENSG00000118492	ENST00000397944;ENST00000473647	D;D	0.93019	-3.15;-3.15	5.29	5.29	0.74685	Peptidase C2, calpain, catalytic domain (3);	0.245292	0.34002	N	0.004346	D	0.93458	0.7913	L	0.39397	1.21	0.41271	D	0.986842	D	0.67145	0.996	D	0.71414	0.973	D	0.94115	0.7374	10	0.51188	T	0.08	-13.8036	15.237	0.73438	0.0:0.0:0.0:1.0	.	224	Q8N7X0	CAN7L_HUMAN	P	224;36	ENSP00000381036:L224P;ENSP00000430834:L36P	ENSP00000381036:L224P	L	+	2	0	C6orf103	147027088	1.000000	0.71417	0.667000	0.29798	0.998000	0.95712	7.142000	0.77339	2.003000	0.58678	0.533000	0.62120	CTA		0.328	ADGB-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376350.2	NM_024694	
NUP43	348995	hgsc.bcm.edu	37	6	150063650	150063650	+	Missense_Mutation	SNP	A	A	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr6:150063650A>T	ENST00000340413.2	-	4	454	c.378T>A	c.(376-378)agT>agA	p.S126R	NUP43_ENST00000460354.2_Missense_Mutation_p.S126R|NUP43_ENST00000463048.3_5'Flank|NUP43_ENST00000367403.3_Missense_Mutation_p.S187R|NUP43_ENST00000367404.4_Missense_Mutation_p.S126R	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	126					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		TATAGGAAGGACTGCCAGGGC	0.468																																																	0			6											178.0	159.0	165.0					6																	150063650		2203	4300	6503	150105343	SO:0001583	missense	348995			AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.378T>A	6.37:g.150063650A>T	ENSP00000342262:p.Ser126Arg		150105343	B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.677759	0.29783	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367403;ENST00000367404;ENST00000543637	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	5.27	-3.17	0.05202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.329273	0.30118	N	0.010370	T	0.61974	0.2390	L	0.29908	0.895	0.32409	N	0.550904	D;B	0.65815	0.995;0.037	D;B	0.70487	0.969;0.064	T	0.64110	-0.6484	10	0.37606	T	0.19	-6.537	10.9275	0.47199	0.5013:0.0:0.4987:0.0	.	126;126	B4E2F0;Q8NFH3	.;NUP43_HUMAN	R	126;126;187;126;133	ENSP00000342262:S126R;ENSP00000432401:S126R;ENSP00000356373:S187R;ENSP00000356374:S126R;ENSP00000438031:S133R	ENSP00000342262:S126R	S	-	3	2	NUP43	150105343	0.479000	0.25925	0.973000	0.42090	0.993000	0.82548	-0.411000	0.07142	-0.502000	0.06596	0.533000	0.62120	AGT		0.468	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887	
LPA	4018	hgsc.bcm.edu	37	6	161006215	161006215	+	Silent	SNP	C	C	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr6:161006215C>A	ENST00000316300.5	-	26	4196	c.4152G>T	c.(4150-4152)ggG>ggT	p.G1384G	LPA_ENST00000447678.1_Silent_p.G1384G			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3892	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTCCTGGACCCCAGTGCTGT	0.443																																																	0			6											159.0	162.0	161.0					6																	161006215		2178	4296	6474	160926205	SO:0001819	synonymous_variant	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4152G>T	6.37:g.161006215C>A			160926205	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.443	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
TP53	7157	hgsc.bcm.edu	37	17	7577529	7577529	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr17:7577529A>G	ENST00000269305.4	-	7	941	c.752T>C	c.(751-753)aTc>aCc	p.I251T	TP53_ENST00000413465.2_Missense_Mutation_p.I251T|TP53_ENST00000455263.2_Missense_Mutation_p.I251T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.I251T|TP53_ENST00000445888.2_Missense_Mutation_p.I251T|TP53_ENST00000420246.2_Missense_Mutation_p.I251T	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	251	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> M (in LFS; germline mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		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.I251S(11)|p.I251N(10)|p.0?(8)|p.I251T(4)|p.I251_T253delILT(4)|p.L252delL(3)|p.I251del(2)|p.P250_L252delPIL(2)|p.I251fs*12(1)|p.P250_T253delPILT(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)|p.I251fs*13(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)	GATGGTGAGGATGGGCCTCCG	0.582		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)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	50	Substitution - Missense(25)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(6)|stomach(6)|haematopoietic_and_lymphoid_tissue(6)|upper_aerodigestive_tract(5)|oesophagus(4)|liver(4)|bone(4)|breast(4)|central_nervous_system(3)|prostate(3)|ovary(2)|thyroid(1)|soft_tissue(1)|skin(1)	17											153.0	111.0	125.0					17																	7577529		2203	4300	6503	7518254	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.752T>C	17.37:g.7577529A>G	ENSP00000269305:p.Ile251Thr		7518254	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	.	.	.	.	.	.	.	.	.	.	A	18.09	3.545728	0.65198	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	4.62	4.62	0.57501	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	0.99701	0.9886	L	0.49699	1.58	0.80722	D	1	D;P;D;D;D	0.89917	0.997;0.728;1.0;0.998;1.0	D;D;D;D;D	0.97110	1.0;0.964;1.0;0.999;1.0	D	0.96787	0.9579	10	0.87932	D	0	-1.7057	12.3101	0.54924	1.0:0.0:0.0:0.0	.	251;251;251;251;251	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	T	251;251;251;251;251;251;240;119	ENSP00000410739:I251T;ENSP00000352610:I251T;ENSP00000269305:I251T;ENSP00000398846:I251T;ENSP00000391127:I251T;ENSP00000391478:I251T;ENSP00000425104:I119T	ENSP00000269305:I251T	I	-	2	0	TP53	7518254	1.000000	0.71417	0.998000	0.56505	0.536000	0.34869	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000420246.2_Missense_Mutation_p.L194R	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	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)	CACTCGGATAAGATGCTGAGG	0.552		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)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(1)	17											97.0	87.0	90.0					17																	7578268		2203	4300	6503	7518993	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.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg		7518993	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	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029856	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	5.41	0.78517	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	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.984;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194R;ENSP00000352610:L194R;ENSP00000269305:L194R;ENSP00000398846:L194R;ENSP00000391127:L194R;ENSP00000391478:L194R;ENSP00000425104:L62R;ENSP00000423862:L101R	ENSP00000269305:L194R	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TOP3A	7156	hgsc.bcm.edu	37	17	18205275	18205275	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr17:18205275A>G	ENST00000321105.5	-	8	1053	c.839T>C	c.(838-840)aTc>aCc	p.I280T	TOP3A_ENST00000540524.1_5'Flank|TOP3A_ENST00000542570.1_Missense_Mutation_p.I185T	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	280					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAATTCTACGATACCATCTTT	0.403																																																	0			17											174.0	151.0	159.0					17																	18205275		2203	4300	6503	18146000	SO:0001583	missense	7156			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.839T>C	17.37:g.18205275A>G	ENSP00000321636:p.Ile280Thr		18146000	A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	A	9.562	1.118635	0.20877	.	.	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.21191	2.02;2.02	6.07	-0.231	0.13086	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);	1.440510	0.03495	N	0.217243	T	0.05181	0.0138	N	0.00630	-1.315	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34502	-0.9826	10	0.02654	T	1	-0.2725	4.1664	0.10308	0.3991:0.1047:0.3942:0.102	.	185;280	B4DK80;Q13472	.;TOP3A_HUMAN	T	280;185	ENSP00000321636:I280T;ENSP00000442336:I185T	ENSP00000321636:I280T	I	-	2	0	TOP3A	18146000	0.000000	0.05858	0.000000	0.03702	0.935000	0.57460	-0.069000	0.11542	-0.296000	0.08947	0.533000	0.62120	ATC		0.403	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2		
ERBB2	2064	hgsc.bcm.edu	37	17	37881616	37881616	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr17:37881616C>T	ENST00000269571.5	+	22	2845	c.2686C>T	c.(2686-2688)Cgc>Tgc	p.R896C	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000406381.2_Missense_Mutation_p.R866C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R881C|ERBB2_ENST00000445658.2_Missense_Mutation_p.R620C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R866C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R866C|ERBB2_ENST00000584450.1_Missense_Mutation_p.R896C			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	896	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.R896C(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GTCCATTCTCCGCCGGCGGTT	0.602		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	1	Substitution - Missense(1)	breast(1)	17											66.0	66.0	66.0					17																	37881616		2203	4300	6503	35135142	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2686C>T	17.37:g.37881616C>T	ENSP00000269571:p.Arg896Cys		35135142	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508512	0.44660	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.62	3.22	0.36961	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.47637	0.1456	L	0.27053	0.805	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.09377	0.004;0.001;0.004	T	0.46119	-0.9214	9	0.51188	T	0.08	.	10.9662	0.47414	0.1356:0.785:0.0:0.0794	.	620;881;896	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	C	866;881;620;896;866	ENSP00000385185:R866C;ENSP00000446466:R881C;ENSP00000404047:R620C;ENSP00000269571:R896C;ENSP00000443562:R866C	ENSP00000269571:R896C	R	+	1	0	ERBB2	35135142	0.860000	0.29831	1.000000	0.80357	0.977000	0.68977	2.210000	0.42816	1.316000	0.45131	0.563000	0.77884	CGC		0.602	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		
CDC6	990	hgsc.bcm.edu	37	17	38447789	38447789	+	Missense_Mutation	SNP	A	A	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr17:38447789A>T	ENST00000209728.4	+	4	1000	c.529A>T	c.(529-531)Agg>Tgg	p.R177W		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	177					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TGCCAGGGAAAGGGAGATGGA	0.498																																																	0			17											92.0	98.0	96.0					17																	38447789		2203	4300	6503	35701315	SO:0001583	missense	990			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.529A>T	17.37:g.38447789A>T	ENSP00000209728:p.Arg177Trp		35701315	Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.402030	0.83120	.	.	ENSG00000094804	ENST00000209728	T	0.57107	0.42	5.86	3.62	0.41486	.	0.417878	0.30320	N	0.009886	T	0.28599	0.0708	N	0.08118	0	0.26352	N	0.977181	B	0.31640	0.333	B	0.26310	0.068	T	0.17868	-1.0355	10	0.72032	D	0.01	-5.5457	7.9383	0.29944	0.7842:0.1429:0.0729:0.0	.	177	Q99741	CDC6_HUMAN	W	177	ENSP00000209728:R177W	ENSP00000209728:R177W	R	+	1	2	CDC6	35701315	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	1.962000	0.40442	0.555000	0.29079	0.528000	0.53228	AGG		0.498	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1		
TUBD1	51174	hgsc.bcm.edu	37	17	57944002	57944002	+	Missense_Mutation	SNP	A	A	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr17:57944002A>T	ENST00000592426.1	-	6	1043	c.1043T>A	c.(1042-1044)cTt>cAt	p.L348H	TUBD1_ENST00000346141.6_Missense_Mutation_p.L94H|TUBD1_ENST00000394239.3_Missense_Mutation_p.L348H|TUBD1_ENST00000325752.3_Missense_Mutation_p.L348H|TUBD1_ENST00000340993.6_Missense_Mutation_p.L293H|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000539018.1_Missense_Mutation_p.L132H			Q9UJT1	TBD_HUMAN	tubulin, delta 1	348					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	TTTCCCACGAAGAATGACCAA	0.388																																																	0			17											128.0	116.0	120.0					17																	57944002		2203	4300	6503	55298784	SO:0001583	missense	51174			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.1043T>A	17.37:g.57944002A>T	ENSP00000468518:p.Leu348His		55298784	B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632132	0.87660	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000394239;ENST00000539018	T;T;D;T	0.82344	-1.28;-0.96;-1.6;-0.92	5.4	5.4	0.78164	Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91717	0.7381	M	0.85299	2.745	0.58432	D	0.999991	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.99;0.991;0.971;0.987;0.984	D	0.93063	0.6476	10	0.87932	D	0	-18.848	15.716	0.77670	1.0:0.0:0.0:0.0	.	348;94;293;293;348	E9PCA7;Q9UJT1-3;Q5KU37;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	H	348;293;94;348;132	ENSP00000320797:L348H;ENSP00000342399:L293H;ENSP00000342561:L94H;ENSP00000377785:L348H	ENSP00000320797:L348H	L	-	2	0	TUBD1	55298784	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.403000	0.90208	2.167000	0.68274	0.528000	0.53228	CTT		0.388	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261	
SSTR2	6752	hgsc.bcm.edu	37	17	71165931	71165931	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr17:71165931C>T	ENST00000357585.2	+	2	842	c.473C>T	c.(472-474)aCg>aTg	p.T158M	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.T158M	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	158					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	AGACCCCGGACGGCCAAGATG	0.572																																																	0			17											74.0	68.0	70.0					17																	71165931		2203	4300	6503	68677526	SO:0001583	missense	6752				CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.473C>T	17.37:g.71165931C>T	ENSP00000350198:p.Thr158Met		68677526	A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943812	0.34283	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.38077	1.16;1.16	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.170682	0.53938	D	0.000057	T	0.22085	0.0532	N	0.03930	-0.32	0.49687	D	0.99981	B	0.22414	0.069	B	0.17722	0.019	T	0.08391	-1.0724	10	0.48119	T	0.1	.	19.635	0.95728	0.0:1.0:0.0:0.0	.	158	P30874	SSR2_HUMAN	M	158	ENSP00000350198:T158M;ENSP00000326616:T158M	ENSP00000326616:T158M	T	+	2	0	SSTR2	68677526	0.997000	0.39634	0.997000	0.53966	0.991000	0.79684	2.678000	0.46900	2.733000	0.93635	0.655000	0.94253	ACG		0.572	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1		
QRICH2	84074	hgsc.bcm.edu	37	17	74287366	74287366	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr17:74287366G>A	ENST00000262765.5	-	4	3123	c.2944C>T	c.(2944-2946)Cca>Tca	p.P982S		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	982										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCTTGGCCTGGGGCCTTCTGG	0.547																																																	0			17											71.0	72.0	72.0					17																	74287366		2203	4300	6503	71798961	SO:0001583	missense	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2944C>T	17.37:g.74287366G>A	ENSP00000262765:p.Pro982Ser		71798961	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	7.463	0.645142	0.14451	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08984	3.03	4.99	-0.7	0.11273	.	.	.	.	.	T	0.04861	0.0131	L	0.29908	0.895	0.09310	N	1	B;B	0.30281	0.275;0.275	B;B	0.28916	0.096;0.046	T	0.41016	-0.9532	9	0.31617	T	0.26	-0.1817	1.2588	0.01997	0.2588:0.1492:0.4384:0.1536	.	982;982	B5MD94;Q9H0J4	.;QRIC2_HUMAN	S	982	ENSP00000262765:P982S	ENSP00000262765:P982S	P	-	1	0	QRICH2	71798961	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-1.560000	0.02160	-0.022000	0.13986	-0.215000	0.12644	CCA		0.547	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134	
PRPSAP1	5635	hgsc.bcm.edu	37	17	74324917	74324917	+	Missense_Mutation	SNP	C	C	T	rs375906385		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr17:74324917C>T	ENST00000446526.3	-	7	1107	c.662G>A	c.(661-663)cGt>cAt	p.R221H	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R118H	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	192					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CAAACCCAGACGCAGTCTCTC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		17126	0.001		0.0	False		,,,				2504	0.0																0			17						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	71.0	80.0		662	5.7	1.0	17		80	0,8600		0,0,4300	no	missense	PRPSAP1	NM_002766.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	221/386	74324917	1,13005	2203	4300	6503	71836512	SO:0001583	missense	5635			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.662G>A	17.37:g.74324917C>T	ENSP00000414624:p.Arg221His		71836512	B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976482	0.92982	2.27E-4	0.0	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555;ENST00000436498	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.73	5.73	0.89815	.	0.053679	0.85682	D	0.000000	T	0.81987	0.4939	L	0.39467	1.215	0.80722	D	1	D;P	0.89917	1.0;0.839	D;B	0.69479	0.964;0.233	T	0.80542	-0.1336	10	0.46703	T	0.11	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	192;221	Q14558;Q14558-2	KPRA_HUMAN;.	H	221;118;118;118	ENSP00000414624:R221H;ENSP00000314973:R118H;ENSP00000392838:R118H;ENSP00000387494:R118H	ENSP00000314973:R118H	R	-	2	0	PRPSAP1	71836512	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	CGT		0.527	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766	
SYNJ1	8867	hgsc.bcm.edu	37	21	34011221	34011221	+	Silent	SNP	C	C	T	rs372695378		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr21:34011221C>T	ENST00000322229.7	-	30	3911	c.3912G>A	c.(3910-3912)ccG>ccA	p.P1304P	SYNJ1_ENST00000382499.2_Silent_p.P1343P|SYNJ1_ENST00000382491.3_Silent_p.P1257P|SYNJ1_ENST00000357345.3_Silent_p.P1288P|SYNJ1_ENST00000433931.2_Silent_p.P1343P			O43426	SYNJ1_HUMAN	synaptojanin 1	1304	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P1304P(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GACTTACTTGCGGTTGTGAGG	0.408																																																	1	Substitution - coding silent(1)	ovary(1)	21											185.0	192.0	189.0					21																	34011221		2203	4300	6503	32933092	SO:0001819	synonymous_variant	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3912G>A	21.37:g.34011221C>T			32933092	O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.298|0.298	-0.975504|-0.975504	0.02215|0.02215	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000438952|ENST00000418301	.|.	.|.	.|.	5.45|5.45	-1.31|-1.31	0.09230|0.09230	.|.	.|.	.|.	.|.	.|.	T|T	0.57636|0.57636	0.2067|0.2067	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52472|0.52472	-0.8571|-0.8571	4|4	.|.	.|.	.|.	.|.	11.0891|11.0891	0.48104|0.48104	0.0:0.4996:0.0:0.5004|0.0:0.4996:0.0:0.5004	.|.	.|.	.|.	.|.	T|H	180|125	.|.	.|.	A|R	-|-	1|2	0|0	SYNJ1|SYNJ1	32933092|32933092	0.261000|0.261000	0.24063|0.24063	0.016000|0.016000	0.15963|0.15963	0.073000|0.073000	0.16967|0.16967	-0.425000|-0.425000	0.07017|0.07017	-0.507000|-0.507000	0.06549|0.06549	-0.137000|-0.137000	0.14449|0.14449	GCA|CGC		0.408	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
C2CD2	25966	hgsc.bcm.edu	37	21	43327181	43327181	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr21:43327181C>T	ENST00000380486.3	-	10	1479	c.1238G>A	c.(1237-1239)tGt>tAt	p.C413Y	C2CD2_ENST00000329623.7_Missense_Mutation_p.C258Y	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	413						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CACAGTCCCACAGGGCATCAC	0.572																																																	0			21											86.0	77.0	80.0					21																	43327181		2203	4300	6503	42200250	SO:0001583	missense	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1238G>A	21.37:g.43327181C>T	ENSP00000369853:p.Cys413Tyr		42200250	Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319812	0.81469	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.25250	1.83;1.81	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.37686	-0.9695	10	0.17832	T	0.49	-12.0695	18.0791	0.89437	0.0:1.0:0.0:0.0	.	258;413	Q6P6D1;Q9Y426	.;CU025_HUMAN	Y	258;413	ENSP00000329302:C258Y;ENSP00000369853:C413Y	ENSP00000329302:C258Y	C	-	2	0	C2CD2	42200250	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	5.467000	0.66737	2.413000	0.81919	0.655000	0.94253	TGT		0.572	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500	
CREBBP	1387	hgsc.bcm.edu	37	16	3817735	3817735	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr16:3817735T>C	ENST00000262367.5	-	16	4045	c.3236A>G	c.(3235-3237)cAg>cGg	p.Q1079R	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1041R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1079					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTGCGCGGCTGCGAAGGAGA	0.418			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0			16											185.0	170.0	175.0					16																	3817735		2197	4300	6497	3757736	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3236A>G	16.37:g.3817735T>C	ENSP00000262367:p.Gln1079Arg		3757736	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375527	0.24857	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	T;T	0.16597	2.33;2.33	5.61	5.61	0.85477	Bromodomain (1);	0.000000	0.64402	D	0.000001	T	0.37404	0.1002	M	0.62723	1.935	0.80722	D	1	D;D	0.54601	0.967;0.967	D;D	0.65140	0.932;0.932	T	0.02774	-1.1112	10	0.31617	T	0.26	-12.9594	16.1054	0.81216	0.0:0.0:0.0:1.0	.	1109;1079	Q4LE28;Q92793	.;CBP_HUMAN	R	1079;1109;1041	ENSP00000262367:Q1079R;ENSP00000371502:Q1041R	ENSP00000262367:Q1079R	Q	-	2	0	CREBBP	3757736	1.000000	0.71417	0.997000	0.53966	0.031000	0.12232	7.158000	0.77470	2.266000	0.75297	0.533000	0.62120	CAG		0.418	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
SNX29	92017	hgsc.bcm.edu	37	16	12571616	12571616	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr16:12571616G>A	ENST00000566228.1	+	19	2147	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	SNX29_ENST00000306030.3_Missense_Mutation_p.R308H|SNX29_ENST00000323433.4_Missense_Mutation_p.R308H	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	693	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.R308L(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AATATTTATCGCCGGTATACA	0.403																																																	2	Substitution - Missense(2)	lung(2)	16											70.0	67.0	68.0					16																	12571616		1872	4102	5974	12479117	SO:0001583	missense	92017			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.2078G>A	16.37:g.12571616G>A	ENSP00000456480:p.Arg693His		12479117	B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469584	0.84533	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	T;T	0.65732	-0.17;-0.17	5.73	5.73	0.89815	.	0.066079	0.64402	D	0.000014	T	0.77877	0.4196	M	0.79011	2.435	0.35923	D	0.831953	.	.	.	.	.	.	D	0.84068	0.0378	8	0.87932	D	0	-21.6809	17.3886	0.87424	0.0:0.0:1.0:0.0	.	.	.	.	H	308	ENSP00000306940:R308H;ENSP00000322226:R308H	ENSP00000306940:R308H	R	+	2	0	SNX29	12479117	1.000000	0.71417	0.636000	0.29352	0.710000	0.40934	9.236000	0.95360	2.699000	0.92147	0.655000	0.94253	CGC		0.403	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1		
ACSM2A	123876	hgsc.bcm.edu	37	16	20486735	20486735	+	Missense_Mutation	SNP	C	C	T	rs367739019		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr16:20486735C>T	ENST00000573854.1	+	7	1060	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Missense_Mutation_p.R88W|ACSM2A_ENST00000219054.6_Missense_Mutation_p.R316W|ACSM2A_ENST00000575690.1_Missense_Mutation_p.R316W|ACSM2A_ENST00000396104.2_Missense_Mutation_p.R316W|ACSM2A_ENST00000417235.2_Missense_Mutation_p.R237W	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	316					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.R316R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CATTGTTTACCGGATGTTGCT	0.507													c|||	1	0.000199681	0.0	0.0	5008	,	,		19395	0.0		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	lung(1)	16						C	TRP/ARG	1,4405		0,1,2202	174.0	144.0	154.0		946	2.4	1.0	16		154	0,8596		0,0,4298	no	missense	ACSM2A	NM_001010845.2	101	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	316/578	20486735	1,13001	2203	4298	6501	20394236	SO:0001583	missense	123876			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.946C>T	16.37:g.20486735C>T	ENSP00000459451:p.Arg316Trp		20394236	B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485171	0.44147	2.27E-4	0.0	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	3.36	2.36	0.29203	AMP-dependent synthetase/ligase (1);	0.165686	0.28504	N	0.015107	T	0.73118	0.3546	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.77024	-0.2741	10	0.87932	D	0	-6.8521	10.5011	0.44806	0.1961:0.8039:0.0:0.0	.	237;316	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	W	237;316;88;316	ENSP00000392169:R237W;ENSP00000219054:R316W;ENSP00000445082:R88W;ENSP00000379411:R316W	ENSP00000219054:R316W	R	+	1	2	ACSM2A	20394236	1.000000	0.71417	0.962000	0.40283	0.427000	0.31564	2.351000	0.44071	0.574000	0.29417	0.298000	0.19748	CGG		0.507	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845	
XPO6	23214	hgsc.bcm.edu	37	16	28112887	28112887	+	Silent	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr16:28112887G>A	ENST00000304658.5	-	23	3668	c.3168C>T	c.(3166-3168)gtC>gtT	p.V1056V	XPO6_ENST00000565698.1_Silent_p.V1042V	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	1056					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CATCAAAGTCGACTGAGGCCA	0.532																																																	0			16											77.0	82.0	80.0					16																	28112887		2063	4207	6270	28020388	SO:0001819	synonymous_variant	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.3168C>T	16.37:g.28112887G>A			28020388	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	CCDS42135.1																																																																																				0.532	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195	
CDH1	999	hgsc.bcm.edu	37	16	68849520	68849520	+	Missense_Mutation	SNP	G	G	A	rs587782113		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr16:68849520G>A	ENST00000261769.5	+	10	1614	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.V414M	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	475	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACCGTCACCGTGGATGTGCT	0.522			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	1	Unknown(1)	breast(1)	16											176.0	152.0	160.0					16																	68849520		2198	4300	6498	67407021	SO:0001583	missense	51343	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1423G>A	16.37:g.68849520G>A	ENSP00000261769:p.Val475Met		67407021	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680394	0.68042	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.72725	-0.68;-0.68	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (2);	0.000000	0.45867	D	0.000325	D	0.90191	0.6934	H	0.96633	3.855	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	D	0.92959	0.6387	10	0.87932	D	0	.	19.433	0.94779	0.0:0.0:1.0:0.0	.	414;475	Q9UII8;P12830	.;CADH1_HUMAN	M	475;493;475;414	ENSP00000261769:V475M;ENSP00000414946:V414M	ENSP00000261769:V475M	V	+	1	0	CDH1	67407021	1.000000	0.71417	0.903000	0.35520	0.561000	0.35649	6.289000	0.72696	2.694000	0.91930	0.555000	0.69702	GTG		0.522	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
TYMS	7298	hgsc.bcm.edu	37	18	669144	669144	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr18:669144G>A	ENST00000323274.10	+	4	666	c.527G>A	c.(526-528)aGa>aAa	p.R176K	TYMS_ENST00000323250.5_Missense_Mutation_p.R93K|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Intron	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	176					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	GACGACAGAAGAATCATCATG	0.433																																																	0			18											134.0	108.0	117.0					18																	669144		2203	4300	6503	659144	SO:0001583	missense	7298			X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.527G>A	18.37:g.669144G>A	ENSP00000315644:p.Arg176Lys		659144	Q8WYK3|Q8WYK4	Missense_Mutation	SNP	ENST00000323274.10	37	CCDS11821.1	.	.	.	.	.	.	.	.	.	.	G	36	5.641104	0.96693	.	.	ENSG00000176890	ENST00000323274;ENST00000323250	.	.	.	5.33	5.33	0.75918	Thymidylate synthase/dCMP hydroxymethylase domain (2);	0.000000	0.85682	D	0.000000	D	0.91095	0.7197	H	0.99777	4.77	0.80722	D	1	D;P	0.56035	0.974;0.943	P;P	0.58660	0.617;0.843	D	0.95302	0.8404	9	0.87932	D	0	-15.4925	18.9965	0.92815	0.0:0.0:1.0:0.0	.	93;176	Q8WYK4;P04818	.;TYSY_HUMAN	K	176;93	.	ENSP00000314902:R93K	R	+	2	0	TYMS	659144	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.307000	0.96226	2.496000	0.84212	0.467000	0.42956	AGA		0.433	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	NM_001071	
SLC14A2	8170	hgsc.bcm.edu	37	18	43205790	43205790	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr18:43205790T>C	ENST00000255226.6	+	3	1109	c.293T>C	c.(292-294)cTc>cCc	p.L98P	SLC14A2_ENST00000586448.1_Missense_Mutation_p.L98P	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	98					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGGCTACCTCACGGGCGAC	0.562																																																	0			18											64.0	59.0	61.0					18																	43205790		2203	4300	6503	41459788	SO:0001583	missense	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.293T>C	18.37:g.43205790T>C	ENSP00000255226:p.Leu98Pro		41459788	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520008	0.64634	.	.	ENSG00000132874	ENST00000255226;ENST00000323329	T;T	0.59364	0.76;0.27	5.46	5.46	0.80206	.	0.327366	0.33382	N	0.004979	T	0.73257	0.3564	M	0.71581	2.175	0.58432	D	0.999992	P;D	0.71674	0.924;0.998	B;D	0.63488	0.44;0.915	T	0.76844	-0.2809	10	0.87932	D	0	-17.3514	15.3612	0.74475	0.0:0.0:0.0:1.0	.	98;98	Q15849;E7EPU1	UT2_HUMAN;.	P	98	ENSP00000255226:L98P;ENSP00000320689:L98P	ENSP00000255226:L98P	L	+	2	0	SLC14A2	41459788	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	5.579000	0.67457	2.293000	0.77203	0.528000	0.53228	CTC		0.562	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
ZNF407	55628	hgsc.bcm.edu	37	18	72592993	72592993	+	Splice_Site	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr18:72592993C>T	ENST00000299687.5	+	5	5046	c.5046C>T	c.(5044-5046)ggC>ggT	p.G1682G	ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Splice_Site_p.G1682G	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1682					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTGCAACAGGCGAGAAGTCGT	0.517																																																	0			18											57.0	60.0	59.0					18																	72592993		1971	4153	6124	70721981	SO:0001630	splice_region_variant	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5045-1C>T	18.37:g.72592993C>T			70721981	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																				0.517	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	Silent
FANCD2	2177	hgsc.bcm.edu	37	3	10084272	10084272	+	Silent	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr3:10084272G>T	ENST00000419585.1	+	11	974	c.813G>T	c.(811-813)tcG>tcT	p.S271S	FANCD2_ENST00000383807.1_Silent_p.S271S|FANCD2_ENST00000287647.3_Silent_p.S271S|FANCD2_ENST00000383806.1_Silent_p.S271S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	271	Interaction with BRCA2.|Interaction with FANCE.				DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.S271S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATAAGTTGTCGTCTATTAGAT	0.373			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	2	Substitution - coding silent(2)	endometrium(2)	3	GRCh37	CD072417	FANCD2	D							247.0	245.0	246.0					3																	10084272		2203	4300	6503	10059272	SO:0001819	synonymous_variant	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.813G>T	3.37:g.10084272G>T			10059272	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	CCDS33696.1																																																																																				0.373	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
QTRTD1	79691	hgsc.bcm.edu	37	3	113804666	113804666	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr3:113804666T>G	ENST00000493014.1	+	6	913	c.845T>G	c.(844-846)tTt>tGt	p.F282C	QTRTD1_ENST00000485050.1_Missense_Mutation_p.F400C|QTRTD1_ENST00000479882.1_Missense_Mutation_p.F265C|QTRTD1_ENST00000281273.4_Missense_Mutation_p.F388C	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GAACACTACTTTGGGTTTTTC	0.463																																																	0			3											179.0	151.0	161.0					3																	113804666		2203	4300	6503	115287356	SO:0001583	missense	79691			AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.845T>G	3.37:g.113804666T>G	ENSP00000419169:p.Phe282Cys		115287356		Missense_Mutation	SNP	ENST00000493014.1	37	CCDS58845.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180617	0.57800	.	.	ENSG00000151576	ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014	.	.	.	6.08	6.08	0.98989	.	0.175549	0.51477	D	0.000081	T	0.75679	0.3882	L	0.57536	1.79	0.43149	D	0.994915	D;P	0.89917	1.0;0.629	D;B	0.71870	0.975;0.222	T	0.77792	-0.2455	9	0.66056	D	0.02	-15.637	15.2149	0.73258	0.0:0.0:0.0:1.0	.	282;388	B7Z472;Q9H974	.;QTRD1_HUMAN	C	400;388;265;282	.	ENSP00000281273:F388C	F	+	2	0	QTRTD1	115287356	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.344000	0.52174	2.333000	0.79357	0.533000	0.62120	TTT		0.463	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638	
HMCES	56941	hgsc.bcm.edu	37	3	129023621	129023621	+	Silent	SNP	C	C	A	rs36104687		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr3:129023621C>A	ENST00000383463.4	+	7	1107	c.1018C>A	c.(1018-1020)Cgg>Agg	p.R340R	HMCES_ENST00000502878.2_Silent_p.R340R|HMCES_ENST00000417226.2_Silent_p.R298R|HMCES_ENST00000389735.3_Silent_p.R340R	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	340							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										ATGGCTGAAGCGGGAGAAGGA	0.562																																																	0			3											61.0	54.0	57.0					3																	129023621		2203	4300	6503	130506311	SO:0001819	synonymous_variant	56941			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.1018C>A	3.37:g.129023621C>A			130506311	A6NJR9|Q96G34|Q9NRP3	Silent	SNP	ENST00000383463.4	37	CCDS33852.1																																																																																				0.562	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187	
EPHB1	2047	hgsc.bcm.edu	37	3	134920412	134920412	+	Silent	SNP	C	C	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr3:134920412C>A	ENST00000398015.3	+	12	2597	c.2227C>A	c.(2227-2229)Cgg>Agg	p.R743R	EPHB1_ENST00000493838.1_Silent_p.R304R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	743	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.R743W(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTATGTGCATCGGGACCTGGC	0.547																																																	2	Substitution - Missense(2)	large_intestine(2)	3											209.0	211.0	210.0					3																	134920412		2200	4300	6500	136403102	SO:0001819	synonymous_variant	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2227C>A	3.37:g.134920412C>A			136403102	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	CCDS46921.1																																																																																				0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
CP	1356	hgsc.bcm.edu	37	3	148928087	148928087	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr3:148928087C>T	ENST00000264613.6	-	3	736	c.474G>A	c.(472-474)atG>atA	p.M158I		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	158	F5/8 type A 1.|Plastocyanin-like 1.				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)	TGGCAAGCAACATGTATGTAT	0.438																																																	0			3											201.0	177.0	185.0					3																	148928087		2203	4300	6503	150410777	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.474G>A	3.37:g.148928087C>T	ENSP00000264613:p.Met158Ile		150410777	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245301	0.22796	.	.	ENSG00000047457	ENST00000264613	D	0.98531	-4.98	5.8	0.895	0.19247	Cupredoxin (2);Multicopper oxidase, type 3 (1);	1.016750	0.07794	N	0.955430	D	0.91168	0.7218	N	0.01473	-0.845	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.85220	0.1026	10	0.36615	T	0.2	-0.6037	5.852	0.18697	0.0:0.1854:0.2537:0.561	.	158;158	A8K5A4;P00450	.;CERU_HUMAN	I	158	ENSP00000264613:M158I	ENSP00000264613:M158I	M	-	3	0	CP	150410777	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.477000	0.06583	-0.067000	0.12976	0.557000	0.71058	ATG		0.438	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
LEKR1	389170	hgsc.bcm.edu	37	3	156763176	156763176	+	Silent	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr3:156763176T>C	ENST00000470811.1	+	14	2139	c.804T>C	c.(802-804)ttT>ttC	p.F268F	LEKR1_ENST00000356539.4_Silent_p.F572F			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	268										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAGAACGCTTTGAACTGACAG	0.448																																																	0			3											92.0	94.0	93.0					3																	156763176		2203	4300	6503	158245870	SO:0001819	synonymous_variant	389170			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.804T>C	3.37:g.156763176T>C			158245870		Silent	SNP	ENST00000470811.1	37																																																																																					0.448	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316	
ZBBX	79740	hgsc.bcm.edu	37	3	167023480	167023480	+	Missense_Mutation	SNP	A	A	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr3:167023480A>T	ENST00000392766.2	-	17	2016	c.1676T>A	c.(1675-1677)cTg>cAg	p.L559Q	ZBBX_ENST00000392764.1_Missense_Mutation_p.L530Q|ZBBX_ENST00000307529.5_Missense_Mutation_p.L559Q|ZBBX_ENST00000455345.2_Missense_Mutation_p.L559Q|ZBBX_ENST00000392767.2_Missense_Mutation_p.L559Q	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	559						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CCTCTTATACAGATTGCTCAA	0.318																																																	0			3											74.0	65.0	68.0					3																	167023480		1801	4065	5866	168506174	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1676T>A	3.37:g.167023480A>T	ENSP00000376519:p.Leu559Gln		168506174	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	A	8.092	0.774661	0.16051	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11169	2.97;2.97;2.98;2.98;2.8	5.3	4.11	0.48088	.	0.635593	0.14755	N	0.300368	T	0.07143	0.0181	N	0.24115	0.695	0.09310	N	1	P;P	0.46912	0.886;0.819	B;B	0.38562	0.276;0.142	T	0.25813	-1.0121	10	0.37606	T	0.19	0.7106	8.3737	0.32430	0.8184:0.0:0.0:0.1816	.	559;559	A8MT70-2;A8MT70	.;ZBBX_HUMAN	Q	559;559;559;559;530	ENSP00000376519:L559Q;ENSP00000376520:L559Q;ENSP00000390232:L559Q;ENSP00000305065:L559Q;ENSP00000376517:L530Q	ENSP00000305065:L559Q	L	-	2	0	ZBBX	168506174	0.210000	0.23517	0.002000	0.10522	0.009000	0.06853	1.831000	0.39141	0.922000	0.37019	0.528000	0.53228	CTG		0.318	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	
PIK3CA	5290	hgsc.bcm.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	3											61.0	60.0	60.0					3																	178936091		1813	4072	5885	180418785	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		180418785	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
MUC4	4585	hgsc.bcm.edu	37	3	195509798	195509798	+	Missense_Mutation	SNP	C	C	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr3:195509798C>G	ENST00000463781.3	-	2	9112	c.8653G>C	c.(8653-8655)Gac>Cac	p.D2885H	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D2885H|MUC4_ENST00000349607.4_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)			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)		GAGGAAGCGTCGGTGACAGGA	0.597																																																	0			3											21.0	15.0	17.0					3																	195509798		681	1573	2254	196994577	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8653G>C	3.37:g.195509798C>G	ENSP00000417498:p.Asp2885His		196994577	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	4.257	0.046805	0.08243	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30714	1.52;1.52	.	.	.	.	.	.	.	.	T	0.12050	0.0293	N	0.19112	0.55	0.09310	N	1	P	0.35944	0.529	B	0.19666	0.026	T	0.16748	-1.0392	7	.	.	.	.	2.1208	0.03725	0.0:0.3273:0.3477:0.325	.	2757	E7ESK3	.	H	2885	ENSP00000417498:D2885H;ENSP00000420243:D2885H	.	D	-	1	0	MUC4	196994577	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.945000	0.03909	-0.000000	0.14550	0.000000	0.15137	GAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
YBX3	8531	hgsc.bcm.edu	37	12	10862555	10862555	+	Silent	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr12:10862555C>T	ENST00000228251.4	-	6	932	c.732G>A	c.(730-732)caG>caA	p.Q244Q	YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Intron	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	244					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										GGTCAAAGGTCTGTCCCACGT	0.587																																																	0			12											68.0	69.0	68.0					12																	10862555		2203	4300	6503	10753822	SO:0001819	synonymous_variant	8531			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.732G>A	12.37:g.10862555C>T			10753822	B2RBW6|Q14121|Q969N6|Q96B76	Silent	SNP	ENST00000228251.4	37	CCDS8630.1																																																																																				0.587	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651	
SOX5	6660	hgsc.bcm.edu	37	12	23687261	23687261	+	Silent	SNP	G	G	A	rs138618584		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr12:23687261G>A	ENST00000451604.2	-	15	2285	c.2184C>T	c.(2182-2184)gcC>gcT	p.A728A	SOX5_ENST00000309359.1_Silent_p.A715A|SOX5_ENST00000541536.1_Silent_p.A607A|SOX5_ENST00000537393.1_Silent_p.A693A|SOX5_ENST00000545921.1_Silent_p.A718A|SOX5_ENST00000546136.1_Silent_p.A715A|SOX5_ENST00000381381.2_Silent_p.A607A|SOX5_ENST00000396007.2_Silent_p.A342A			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	728					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A728A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGATGTCCTCGGCCTGTATCT	0.473																																																	1	Substitution - coding silent(1)	lung(1)	12						G	,,	1,4405	2.1+/-5.4	0,1,2202	233.0	194.0	207.0		2184,2145,1026	0.5	1.0	12	dbSNP_134	207	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SOX5	NM_006940.4,NM_152989.2,NM_178010.1	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	728/764,715/751,342/378	23687261	1,13005	2203	4300	6503	23578528	SO:0001819	synonymous_variant	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.2184C>T	12.37:g.23687261G>A			23578528	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	ENST00000451604.2	37	CCDS8699.1																																																																																				0.473	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(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)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	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"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	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.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		25289551	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
GALNT6	11226	hgsc.bcm.edu	37	12	51754530	51754530	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr12:51754530C>T	ENST00000543196.2	-	6	1347	c.1142G>A	c.(1141-1143)gGg>gAg	p.G381E	GALNT6_ENST00000356317.3_Missense_Mutation_p.G381E			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	381	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACGTTCTCCCCTCCCCAGAT	0.542																																																	0			12											130.0	111.0	117.0					12																	51754530		2203	4300	6503	50040797	SO:0001583	missense	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1142G>A	12.37:g.51754530C>T	ENSP00000444171:p.Gly381Glu		50040797	Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917701	0.92249	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.67865	-0.29;-0.29	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.87533	0.6201	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91152	0.4954	10	0.87932	D	0	.	17.2924	0.87160	0.0:1.0:0.0:0.0	.	381	Q8NCL4	GALT6_HUMAN	E	381;381;362	ENSP00000444171:G381E;ENSP00000348668:G381E	ENSP00000348668:G381E	G	-	2	0	GALNT6	50040797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.816000	0.96949	0.563000	0.77884	GGG		0.542	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210	
XPOT	11260	hgsc.bcm.edu	37	12	64823982	64823982	+	Missense_Mutation	SNP	C	C	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr12:64823982C>G	ENST00000332707.5	+	17	2420	c.1891C>G	c.(1891-1893)Ctg>Gtg	p.L631V		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	631	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTTTAAAATTCTGTTAGAAAA	0.413																																																	0			12											61.0	61.0	61.0					12																	64823982		2203	4300	6503	63110249	SO:0001583	missense	11260			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1891C>G	12.37:g.64823982C>G	ENSP00000327821:p.Leu631Val		63110249	A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745629	0.30955	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	T;T	0.67171	0.94;-0.25	5.28	4.37	0.52481	Armadillo-like helical (1);Armadillo-type fold (1);	0.155711	0.44097	D	0.000492	T	0.49167	0.1541	L	0.31578	0.945	0.50632	D	0.999886	B	0.02656	0.0	B	0.04013	0.001	T	0.40346	-0.9568	9	.	.	.	.	8.1901	0.31363	0.0:0.7195:0.154:0.1265	.	631	O43592	XPOT_HUMAN	V	631;153	ENSP00000327821:L631V;ENSP00000444345:L153V	.	L	+	1	2	XPOT	63110249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.358000	0.44134	2.646000	0.89796	0.650000	0.86243	CTG		0.413	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235	
TMEM132C	92293	hgsc.bcm.edu	37	12	129190601	129190601	+	Missense_Mutation	SNP	G	G	A	rs373406957		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr12:129190601G>A	ENST00000435159.2	+	9	3088	c.3088G>A	c.(3088-3090)Gac>Aac	p.D1030N	TMEM132C_ENST00000537538.1_Missense_Mutation_p.D415N|TMEM132C_ENST00000315208.8_Missense_Mutation_p.D646N	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	1030						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CAGGTCAGCCGACTCCGGGGG	0.612																																																	0			12						G	ASN/ASP	0,1384		0,0,692	31.0	36.0	35.0		3088	4.5	0.0	12		35	1,3181		0,1,1590	no	missense	TMEM132C	NM_001136103.2	23	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	benign	1030/1109	129190601	1,4565	692	1591	2283	127756554	SO:0001583	missense	92293			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.3088G>A	12.37:g.129190601G>A	ENSP00000410852:p.Asp1030Asn		127756554	Q69YX8	Missense_Mutation	SNP	ENST00000435159.2	37		.	.	.	.	.	.	.	.	.	.	G	13.49	2.253742	0.39797	0.0	3.14E-4	ENSG00000181234	ENST00000435159;ENST00000315208;ENST00000537538	T;T;T	0.10382	3.7;3.35;2.88	4.53	4.53	0.55603	.	0.912562	0.09254	N	0.827447	T	0.17238	0.0414	M	0.61703	1.905	0.25730	N	0.985279	D	0.54397	0.966	B	0.42386	0.386	T	0.29212	-1.0019	10	0.29301	T	0.29	.	17.2663	0.87087	0.0:0.0:1.0:0.0	.	1030	Q8N3T6	T132C_HUMAN	N	1030;646;415	ENSP00000410852:D1030N;ENSP00000324458:D646N;ENSP00000438477:D415N	ENSP00000324458:D646N	D	+	1	0	TMEM132C	127756554	1.000000	0.71417	0.013000	0.15412	0.041000	0.13682	7.073000	0.76784	2.080000	0.62538	0.561000	0.74099	GAC		0.612	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_044062	
AQR	9716	hgsc.bcm.edu	37	15	35149069	35149069	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr15:35149069A>G	ENST00000156471.5	-	35	4607	c.4382T>C	c.(4381-4383)gTg>gCg	p.V1461A		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1461					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGCTCCTACCACAGTAGGGGT	0.532																																																	0			15											129.0	133.0	132.0					15																	35149069		2007	4191	6198	32936361	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.4382T>C	15.37:g.35149069A>G	ENSP00000156471:p.Val1461Ala		32936361	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	A	4.048	0.006607	0.07866	.	.	ENSG00000021776	ENST00000543879	.	.	.	4.83	-1.64	0.08318	.	1.432370	0.04597	N	0.397864	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15350	-1.0440	9	0.10636	T	0.68	-0.8352	0.8242	0.01117	0.3524:0.175:0.3033:0.1693	.	1461	O60306	AQR_HUMAN	A	1461	.	ENSP00000445700:V1461A	V	-	2	0	AQR	32936361	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-1.175000	0.03102	0.050000	0.15949	0.455000	0.32223	GTG		0.532	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
MEIS2	4212	hgsc.bcm.edu	37	15	37184403	37184403	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr15:37184403C>T	ENST00000561208.1	-	12	1823	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.G462R|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000559408.1_5'Flank|MEIS2_ENST00000338564.5_Missense_Mutation_p.G462R			O14770	MEIS2_HUMAN	Meis homeobox 2	469	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		ATAACCTGTCCGCCAACATTG	0.458																																																	0			15											181.0	198.0	192.0					15																	37184403		2201	4297	6498	34971695	SO:0001583	missense	4212			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1405G>A	15.37:g.37184403C>T	ENSP00000453793:p.Gly469Arg		34971695	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134738	0.56828	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766	D;D	0.86769	-2.17;-2.17	5.97	5.97	0.96955	.	0.403516	0.27946	N	0.017203	D	0.91583	0.7341	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.999;0.991;0.996;1.0	D;P;P;D	0.80764	0.931;0.542;0.572;0.994	D	0.91108	0.4920	10	0.54805	T	0.06	-7.6365	13.5989	0.62007	0.0:0.9294:0.0:0.0706	.	462;469;449;165	O14770-4;O14770;B7Z6F6;Q6V703	.;MEIS2_HUMAN;.;.	R	469;462;462	ENSP00000341400:G462R;ENSP00000372216:G462R	ENSP00000326296:G469R	G	-	1	0	MEIS2	34971695	1.000000	0.71417	0.973000	0.42090	0.921000	0.55340	6.044000	0.71012	2.820000	0.97059	0.655000	0.94253	GGA		0.458	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677	
LRRC57	255252	hgsc.bcm.edu	37	15	42837318	42837318	+	Missense_Mutation	SNP	A	A	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr15:42837318A>T	ENST00000323443.2	-	4	1002	c.635T>A	c.(634-636)cTt>cAt	p.L212H	LRRC57_ENST00000563454.1_Missense_Mutation_p.L212H|LRRC57_ENST00000397130.3_Missense_Mutation_p.L212H			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	212						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TATTTCAAAAAGATTGCCTTC	0.423																																																	0			15											96.0	96.0	96.0					15																	42837318		2203	4299	6502	40624610	SO:0001583	missense	255252			AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.635T>A	15.37:g.42837318A>T	ENSP00000326817:p.Leu212His		40624610	Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.767581	0.90020	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.52526	0.66;0.66	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.71307	0.3324	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.74714	-0.3572	10	0.45353	T	0.12	.	15.3514	0.74389	1.0:0.0:0.0:0.0	.	212	Q8N9N7	LRC57_HUMAN	H	212	ENSP00000326817:L212H;ENSP00000380319:L212H	ENSP00000326817:L212H	L	-	2	0	LRRC57	40624610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.688000	0.91260	2.038000	0.60285	0.455000	0.32223	CTT		0.423	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260	
TTBK2	146057	hgsc.bcm.edu	37	15	43044268	43044268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr15:43044268C>T	ENST00000267890.6	-	14	3284	c.3176G>A	c.(3175-3177)tGg>tAg	p.W1059*		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1059					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.W1059*(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGTGTTGACCCATGAAACTGG	0.498																																																	1	Substitution - Nonsense(1)	ovary(1)	15											148.0	156.0	153.0					15																	43044268		1987	4167	6154	40831560	SO:0001587	stop_gained	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3176G>A	15.37:g.43044268C>T	ENSP00000267890:p.Trp1059*		40831560	O94932|Q6ZN52|Q8IVV1	Nonsense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003259	0.98605	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	.	.	.	5.91	5.91	0.95273	.	0.067767	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	X	1059;989;1464	.	ENSP00000263802:W1464X	W	-	2	0	TTBK2	40831560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.648000	0.54410	2.802000	0.96397	0.655000	0.94253	TGG		0.498	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500	
TP53BP1	7158	hgsc.bcm.edu	37	15	43708533	43708533	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr15:43708533C>A	ENST00000263801.3	-	22	5000	c.4748G>T	c.(4747-4749)cGa>cTa	p.R1583L	TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1588L|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1538L|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1588L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1583	Tudor-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GACAGCCATTCGCTTATACCA	0.488								Other conserved DNA damage response genes																																									0			15											182.0	155.0	164.0					15																	43708533		2201	4298	6499	41495825	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4748G>T	15.37:g.43708533C>A	ENSP00000263801:p.Arg1583Leu		41495825	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864001	0.91511	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.87	4.96	0.65561	Translation protein SH3-like, subgroup (1);Tumour suppressor p53-binding protein-1 Tudor (1);	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.999;0.999	D;D;D;D	0.85130	0.997;0.989;0.981;0.981	T	0.61178	-0.7115	10	0.39692	T	0.17	-3.4691	15.5374	0.76013	0.0:0.9336:0.0:0.0664	.	1588;1583;1588;1588	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	L	1583;1588;1538;1588	ENSP00000263801:R1583L;ENSP00000371475:R1588L;ENSP00000371470:R1538L;ENSP00000393497:R1588L	ENSP00000263801:R1583L	R	-	2	0	TP53BP1	41495825	1.000000	0.71417	0.938000	0.37757	0.993000	0.82548	5.692000	0.68256	1.626000	0.50381	0.655000	0.94253	CGA		0.488	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
CGNL1	84952	hgsc.bcm.edu	37	15	57730535	57730535	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr15:57730535C>A	ENST00000281282.5	+	2	416	c.338C>A	c.(337-339)cCa>cAa	p.P113Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	113	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.P113Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAGCCTAGCCCAATAAGAAAC	0.488																																																	1	Substitution - Missense(1)	lung(1)	15											42.0	45.0	44.0					15																	57730535		2192	4292	6484	55517827	SO:0001583	missense	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.338C>A	15.37:g.57730535C>A	ENSP00000281282:p.Pro113Gln		55517827	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	2.490	-0.317539	0.05386	.	.	ENSG00000128849	ENST00000281282	T	0.80909	-1.43	4.64	3.72	0.42706	.	1.516220	0.04069	N	0.307641	T	0.77678	0.4166	L	0.56769	1.78	0.09310	N	1	P	0.34780	0.468	B	0.32864	0.154	T	0.64424	-0.6411	10	0.59425	D	0.04	-5.7758	5.9681	0.19336	0.1702:0.691:0.0:0.1388	.	113	Q0VF96	CGNL1_HUMAN	Q	113	ENSP00000281282:P113Q	ENSP00000281282:P113Q	P	+	2	0	CGNL1	55517827	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	1.049000	0.30392	1.160000	0.42584	-0.175000	0.13238	CCA		0.488	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866	
IL1RAPL1	11141	hgsc.bcm.edu	37	X	29935625	29935625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chrX:29935625G>T	ENST00000378993.1	+	7	1496	c.823G>T	c.(823-825)Gga>Tga	p.G275*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.G275*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	275	Ig-like C2-type 3.				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.G275*(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						TGGGTACAGCGGAGATGTCAG	0.348																																																	1	Substitution - Nonsense(1)	ovary(1)	X											59.0	55.0	57.0					X																	29935625		2202	4300	6502	29845546	SO:0001587	stop_gained	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.823G>T	X.37:g.29935625G>T	ENSP00000368278:p.Gly275*		29845546	A0AVG4|Q9UJ53	Nonsense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	44	10.819807	0.99472	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1532	0.93499	0.0:0.0:1.0:0.0	.	.	.	.	X	275	.	.	G	+	1	0	IL1RAPL1	29845546	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	9.431000	0.97494	2.474000	0.83562	0.600000	0.82982	GGA		0.348	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
DDX3X	1654	hgsc.bcm.edu	37	X	41203509	41203509	+	Silent	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chrX:41203509A>G	ENST00000399959.2	+	10	1737	c.882A>G	c.(880-882)agA>agG	p.R294R	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Silent_p.R278R|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	294	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.		R -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ACCGATCTAGAGTTCGTCCTT	0.373										HNSCC(61;0.18)																																							0			X											217.0	199.0	205.0					X																	41203509		2203	4300	6503	41088453	SO:0001819	synonymous_variant	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.882A>G	X.37:g.41203509A>G			41088453	A8K538|B4E3E8|O15536	Silent	SNP	ENST00000399959.2	37	CCDS43931.1																																																																																				0.373	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005	
UBQLN2	29978	hgsc.bcm.edu	37	X	56591890	56591890	+	Silent	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chrX:56591890C>T	ENST00000338222.5	+	1	1865	c.1584C>T	c.(1582-1584)acC>acT	p.T528T		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	528					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						CTGGCTCCACCGGCTCTGGTG	0.622																																					Esophageal Squamous(104;218 1492 6022 10838 28884)												0			X											8.0	9.0	9.0					X																	56591890		2169	4243	6412	56608615	SO:0001819	synonymous_variant	29978			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1584C>T	X.37:g.56591890C>T			56608615	O94798|Q5D027|Q9H3W6|Q9HAZ4	Silent	SNP	ENST00000338222.5	37	CCDS14374.1																																																																																				0.622	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444	
AMER1	139285	hgsc.bcm.edu	37	X	63411783	63411783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chrX:63411783C>A	ENST00000330258.3	-	2	1656	c.1384G>T	c.(1384-1386)Gaa>Taa	p.E462*	AMER1_ENST00000403336.1_Nonsense_Mutation_p.E462*|AMER1_ENST00000374869.3_Nonsense_Mutation_p.E462*	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	462					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.E462*(2)									GGGGCGGATTCTTGCTGGTCA	0.547																																																	69	Whole gene deletion(67)|Substitution - Nonsense(2)	kidney(65)|large_intestine(3)|ovary(1)	X											95.0	71.0	79.0					X																	63411783		2203	4300	6503	63328508	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.1384G>T	X.37:g.63411783C>A	ENSP00000329117:p.Glu462*		63328508	A2IB86|Q8N885	Nonsense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	40	8.150724	0.98678	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	.	.	.	5.32	5.32	0.75619	.	0.191892	0.43416	D	0.000580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.9457	16.762	0.85514	0.0:1.0:0.0:0.0	.	.	.	.	X	462	.	ENSP00000329117:E462X	E	-	1	0	FAM123B	63328508	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	7.320000	0.79064	2.618000	0.88619	0.600000	0.82982	GAA		0.547	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
NLGN3	54413	hgsc.bcm.edu	37	X	70387356	70387356	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chrX:70387356G>A	ENST00000358741.3	+	7	1712	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H	NLGN3_ENST00000374051.3_Missense_Mutation_p.R450H|NLGN3_ENST00000536169.1_Missense_Mutation_p.R430H|NLGN3_ENST00000476589.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	470					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.R450H(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCTGAGACCCGCCGTAAAACA	0.567																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												1	Substitution - Missense(1)	large_intestine(1)	X											53.0	43.0	46.0					X																	70387356		2203	4300	6503	70304081	SO:0001583	missense	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1409G>A	X.37:g.70387356G>A	ENSP00000351591:p.Arg470His		70304081	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	CCDS55441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.501428|4.501428	0.85176|0.85176	.|.	.|.	ENSG00000196338|ENSG00000196338	ENST00000542063|ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	.|T;T;T;T	.|0.58940	.|0.3;0.3;0.3;0.3	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Carboxylesterase, type B (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74053|0.74053	0.3666|0.3666	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;0.999	T|T	0.76724|0.76724	-0.2854|-0.2854	5|10	.|0.62326	.|D	.|0.03	.|.	17.3394|17.3394	0.87291|0.87291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|430;470;450	.|D3DVV1;Q9NZ94;Q9NZ94-2	.|.;NLGN3_HUMAN;.	T|H	333|430;450;430;470	.|ENSP00000445298:R430H;ENSP00000363163:R450H;ENSP00000379196:R430H;ENSP00000351591:R470H	.|ENSP00000351591:R470H	A|R	+|+	1|2	0|0	NLGN3|NLGN3	70304081|70304081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.657000|9.657000	0.98554|0.98554	2.277000|2.277000	0.76020|0.76020	0.508000|0.508000	0.49915|0.49915	GCC|CGC		0.567	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977	
POU3F4	5456	hgsc.bcm.edu	37	X	82764379	82764379	+	Silent	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chrX:82764379G>A	ENST00000373200.2	+	1	1111	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	349					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGGTTTATTCGCACACCGTGA	0.532																																																	0			X											21.0	18.0	19.0					X																	82764379		2200	4296	6496	82651035	SO:0001819	synonymous_variant	5456			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.1047G>A	X.37:g.82764379G>A			82651035	B2RC71|Q5H9G9|Q99410	Silent	SNP	ENST00000373200.2	37	CCDS14450.1																																																																																				0.532	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307	
CAPN6	827	hgsc.bcm.edu	37	X	110489890	110489890	+	Missense_Mutation	SNP	C	C	G	rs201824799		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chrX:110489890C>G	ENST00000324068.1	-	13	2008	c.1841G>C	c.(1840-1842)cGt>cCt	p.R614P	CAPN6_ENST00000541758.1_Missense_Mutation_p.R359P	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	614	C2.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACCCTTCTTACGCAGGTACAG	0.507																																																	0			X											189.0	136.0	154.0					X																	110489890		2203	4300	6503	110376546	SO:0001583	missense	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1841G>C	X.37:g.110489890C>G	ENSP00000317214:p.Arg614Pro		110376546	D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162050	0.57368	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.68903	-0.36;-0.36	5.37	4.51	0.55191	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	1.074500	0.07000	N	0.823094	T	0.76285	0.3966	L	0.46157	1.445	0.48341	D	0.999632	D	0.71674	0.998	D	0.68192	0.956	T	0.64918	-0.6294	10	0.72032	D	0.01	.	8.5428	0.33404	0.0:0.8192:0.0:0.1808	.	614	Q9Y6Q1	CAN6_HUMAN	P	614;359	ENSP00000317214:R614P;ENSP00000441736:R359P	ENSP00000317214:R614P	R	-	2	0	CAPN6	110376546	0.750000	0.28316	1.000000	0.80357	0.998000	0.95712	1.591000	0.36665	1.250000	0.43966	0.589000	0.80489	CGT		0.507	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1		
PRRG3	79057	hgsc.bcm.edu	37	X	150869330	150869330	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chrX:150869330C>A	ENST00000370353.3	+	4	911	c.521C>A	c.(520-522)aCc>aAc	p.T174N	PRRG3_ENST00000538575.1_Missense_Mutation_p.T174N			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	174						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGAGAGCACCCTCTACCTC	0.672																																																	0			X											48.0	38.0	41.0					X																	150869330		2202	4300	6502	150619986	SO:0001583	missense	79057			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.521C>A	X.37:g.150869330C>A	ENSP00000359378:p.Thr174Asn		150619986	A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	C	9.761	1.170085	0.21621	.	.	ENSG00000130032	ENST00000538575;ENST00000370353	D;D	0.98280	-4.84;-4.84	4.31	2.32	0.28847	.	0.457400	0.19232	N	0.119391	D	0.92532	0.7628	N	0.14661	0.345	0.31120	N	0.709007	B	0.33694	0.421	B	0.35550	0.205	D	0.89086	0.3479	9	.	.	.	-25.4068	1.971	0.03406	0.2085:0.4755:0.1992:0.1168	.	174	Q9BZD7	TMG3_HUMAN	N	174	ENSP00000440217:T174N;ENSP00000359378:T174N	.	T	+	2	0	PRRG3	150619986	0.959000	0.32827	0.995000	0.50966	0.320000	0.28249	1.384000	0.34396	0.926000	0.37118	0.523000	0.50628	ACC		0.672	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388790	1388790	+	Missense_Mutation	SNP	T	T	C	rs79415192		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr4:1388790T>C	ENST00000324803.4	+	1	3451	c.491T>C	c.(490-492)gTg>gCg	p.V164A		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	164					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V164A(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGTGCCGACGTGGAGTGCCCG	0.692																																																	1	Substitution - Missense(1)	lung(1)	4											180.0	124.0	143.0					4																	1388790		2201	4281	6482	1378790	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.491T>C	4.37:g.1388790T>C	ENSP00000323978:p.Val164Ala		1378790	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	t	1.148	-0.647432	0.03506	.	.	ENSG00000179979	ENST00000324803	T	0.24350	1.86	1.25	-2.49	0.06403	.	.	.	.	.	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20174	-1.0283	9	0.14252	T	0.57	.	0.8761	0.01224	0.1598:0.3215:0.2492:0.2695	.	164	Q8N1N5	CRPAK_HUMAN	A	164	ENSP00000323978:V164A	ENSP00000323978:V164A	V	+	2	0	CRIPAK	1378790	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.847000	0.04331	-2.974000	0.00285	-1.550000	0.00899	GTG		0.692	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
SH3TC1	54436	hgsc.bcm.edu	37	4	8229578	8229578	+	Silent	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr4:8229578C>T	ENST00000245105.3	+	12	2224	c.2157C>T	c.(2155-2157)cgC>cgT	p.R719R	SH3TC1_ENST00000539824.1_Silent_p.R643R	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	719			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.							NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCTACAGCCGCAAGTGCCTGC	0.647																																					NSCLC(145;2298 2623 35616 37297)												0			4											55.0	55.0	55.0					4																	8229578		2203	4300	6503	8280478	SO:0001819	synonymous_variant	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2157C>T	4.37:g.8229578C>T			8280478	Q4W5G5	Silent	SNP	ENST00000245105.3	37	CCDS3399.1																																																																																				0.647	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986	
BOD1L1	259282	hgsc.bcm.edu	37	4	13604875	13604875	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr4:13604875T>G	ENST00000040738.5	-	10	3784	c.3649A>C	c.(3649-3651)Aac>Cac	p.N1217H		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1217						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCCCCAGGGTTCATTTTGGAC	0.403																																																	0			4											159.0	164.0	162.0					4																	13604875		2203	4300	6503	13213973	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3649A>C	4.37:g.13604875T>G	ENSP00000040738:p.Asn1217His		13213973	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	7.296	0.612115	0.14066	.	.	ENSG00000038219	ENST00000040738	T	0.07216	3.21	5.02	-1.6	0.08426	.	1.204370	0.05921	N	0.633493	T	0.08403	0.0209	L	0.27053	0.805	0.09310	N	1	P	0.50943	0.94	P	0.46975	0.533	T	0.36286	-0.9754	10	0.48119	T	0.1	-2.46	7.1259	0.25471	0.1252:0.4533:0.0:0.4215	.	1217	Q8NFC6	BOD1L_HUMAN	H	1217	ENSP00000040738:N1217H	ENSP00000040738:N1217H	N	-	1	0	BOD1L	13213973	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.274000	0.08537	-0.400000	0.07656	0.533000	0.62120	AAC		0.403	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
TXK	7294	hgsc.bcm.edu	37	4	48096116	48096116	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr4:48096116C>A	ENST00000264316.4	-	8	772	c.687G>T	c.(685-687)tgG>tgT	p.W229C	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	229	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GCTGGTGATACCAGATTAACT	0.488																																																	0			4											149.0	144.0	146.0					4																	48096116		2203	4300	6503	47790873	SO:0001583	missense	7294			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.687G>T	4.37:g.48096116C>A	ENSP00000264316:p.Trp229Cys		47790873	Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193297	0.38707	.	.	ENSG00000074966	ENST00000264316	D	0.92397	-3.03	5.24	3.53	0.40419	SH2 motif (5);	0.801655	0.11137	N	0.595713	D	0.83613	0.5292	N	0.14661	0.345	0.80722	D	1	P	0.44521	0.837	B	0.38562	0.276	T	0.79027	-0.1971	10	0.72032	D	0.01	.	8.0366	0.30496	0.0:0.7516:0.0:0.2484	.	229	P42681	TXK_HUMAN	C	229	ENSP00000264316:W229C	ENSP00000264316:W229C	W	-	3	0	TXK	47790873	0.192000	0.23301	0.988000	0.46212	0.963000	0.63663	0.358000	0.20216	0.787000	0.33731	0.655000	0.94253	TGG		0.488	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328	
YTHDC1	91746	hgsc.bcm.edu	37	4	69184445	69184445	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr4:69184445C>T	ENST00000344157.4	-	14	2059	c.1724G>A	c.(1723-1725)cGa>cAa	p.R575Q	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R583Q|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R557Q	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	575	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TCCTGAAAATCGTCTGTTGGG	0.343																																																	0			4											60.0	62.0	61.0					4																	69184445		2203	4300	6503	68867040	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1724G>A	4.37:g.69184445C>T	ENSP00000339245:p.Arg575Gln		68867040	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991219	0.74703	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.25579	1.81;1.79	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.988;1.0	P;D	0.67548	0.467;0.952	T	0.16778	-1.0391	10	0.52906	T	0.07	.	19.5102	0.95139	0.0:1.0:0.0:0.0	.	557;575	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	Q	575;557	ENSP00000339245:R575Q;ENSP00000347888:R557Q	ENSP00000339245:R575Q	R	-	2	0	YTHDC1	68867040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.725000	0.74752	2.615000	0.88500	0.591000	0.81541	CGA		0.343	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	
ADAMTS3	9508	hgsc.bcm.edu	37	4	73179472	73179472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr4:73179472G>T	ENST00000286657.4	-	12	1703	c.1667C>A	c.(1666-1668)tCa>tAa	p.S556*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	556	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTAGTCCATGACCCCCAATT	0.398																																					NSCLC(168;1941 2048 2918 13048 43078)												0			4											144.0	112.0	123.0					4																	73179472		2203	4300	6503	73398336	SO:0001587	stop_gained	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1667C>A	4.37:g.73179472G>T	ENSP00000286657:p.Ser556*		73398336	A1L3U9|Q9BXZ8	Nonsense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	39	7.570756	0.98365	.	.	ENSG00000156140	ENST00000286657	.	.	.	6.02	5.17	0.71159	.	0.328330	0.28718	N	0.014367	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2102	0.73219	0.0672:0.0:0.9328:0.0	.	.	.	.	X	556	.	ENSP00000286657:S556X	S	-	2	0	ADAMTS3	73398336	1.000000	0.71417	0.987000	0.45799	0.946000	0.59487	7.903000	0.87398	1.548000	0.49413	0.650000	0.86243	TCA		0.398	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
ANTXR2	118429	hgsc.bcm.edu	37	4	80929682	80929682	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr4:80929682C>A	ENST00000307333.7	-	12	1036	c.1034G>T	c.(1033-1035)tGc>tTc	p.C345F	ANTXR2_ENST00000346652.6_Missense_Mutation_p.C242F|ANTXR2_ENST00000404191.1_Missense_Mutation_p.C268F|ANTXR2_ENST00000403729.2_Missense_Mutation_p.C345F	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	345					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CACCACTTTGCAGCAAAGGGG	0.388									Juvenile Hyaline Fibromatosis																																								0			4											101.0	94.0	96.0					4																	80929682		1894	4134	6028	81148706	SO:0001583	missense	118429	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.1034G>T	4.37:g.80929682C>A	ENSP00000306185:p.Cys345Phe		81148706	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	37	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819242	0.71028	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000346652;ENST00000307333	T;T;T;T	0.52526	2.18;0.66;2.02;2.18	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.994;0.999;1.0	T	0.74765	-0.3554	10	0.87932	D	0	-12.0682	15.6282	0.76878	0.0:1.0:0.0:0.0	.	242;345;345	P58335-2;P58335;P58335-4	.;ANTR2_HUMAN;.	F	345;268;242;345	ENSP00000385575:C345F;ENSP00000384028:C268F;ENSP00000314883:C242F;ENSP00000306185:C345F	ENSP00000306185:C345F	C	-	2	0	ANTXR2	81148706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.521000	0.67086	2.552000	0.86080	0.591000	0.81541	TGC		0.388	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172	
WDFY3	23001	hgsc.bcm.edu	37	4	85678299	85678299	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr4:85678299C>T	ENST00000295888.4	-	33	5611	c.5204G>A	c.(5203-5205)aGa>aAa	p.R1735K	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1735K	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1735					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACCAGCACTTCTGCCCACGTT	0.413																																																	0			4											103.0	97.0	99.0					4																	85678299		2203	4300	6503	85897323	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5204G>A	4.37:g.85678299C>T	ENSP00000295888:p.Arg1735Lys		85897323	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517708	0.64634	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63744	-0.06;-0.06	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	L	0.50333	1.59	0.80722	D	1	P	0.35527	0.507	B	0.28232	0.087	T	0.53906	-0.8372	10	0.28530	T	0.3	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1735	Q8IZQ1	WDFY3_HUMAN	K	1735	ENSP00000318466:R1735K;ENSP00000295888:R1735K	ENSP00000295888:R1735K	R	-	2	0	WDFY3	85897323	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	AGA		0.413	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
TACR3	6870	hgsc.bcm.edu	37	4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T	rs553885967		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr4:104511030C>T	ENST00000304883.2	-	5	1347	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	403					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.V403M(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498																																																	1	Substitution - Missense(1)	prostate(1)	4											235.0	217.0	223.0					4																	104511030		2203	4300	6503	104730479	SO:0001583	missense	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1207G>A	4.37:g.104511030C>T	ENSP00000303325:p.Val403Met		104730479	Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491957	0.64074	.	.	ENSG00000169836	ENST00000304883	T	0.65732	-0.17	5.81	5.81	0.92471	.	0.070759	0.64402	D	0.000020	T	0.64427	0.2597	M	0.75447	2.3	0.46061	D	0.998848	D	0.53462	0.96	B	0.39465	0.3	T	0.71052	-0.4704	10	0.54805	T	0.06	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	403	P29371	NK3R_HUMAN	M	403	ENSP00000303325:V403M	ENSP00000303325:V403M	V	-	1	0	TACR3	104730479	0.958000	0.32768	0.981000	0.43875	0.972000	0.66771	1.867000	0.39499	2.746000	0.94184	0.591000	0.81541	GTG		0.498	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	
RNF150	57484	hgsc.bcm.edu	37	4	142053630	142053630	+	Silent	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr4:142053630C>T	ENST00000515673.2	-	1	366	c.333G>A	c.(331-333)ccG>ccA	p.P111P	RNF150_ENST00000507500.1_Silent_p.P111P|RNF150_ENST00000306799.3_Silent_p.P111P|RNF150_ENST00000420921.2_Intron			Q9ULK6	RN150_HUMAN	ring finger protein 150	111	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TGCCGCGGGTCGGGGCGGCGA	0.667																																																	0			4											35.0	31.0	32.0					4																	142053630		2202	4300	6502	142273080	SO:0001819	synonymous_variant	57484			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.333G>A	4.37:g.142053630C>T			142273080	Q3T1D0|Q6ZNW6	Silent	SNP	ENST00000515673.2	37	CCDS34065.1																																																																																				0.667	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090	
OTUD4	54726	hgsc.bcm.edu	37	4	146072024	146072024	+	Silent	SNP	T	T	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr4:146072024T>G	ENST00000447906.2	-	12	1189	c.1002A>C	c.(1000-1002)ccA>ccC	p.P334P	Y_RNA_ENST00000459374.1_RNA|OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Silent_p.P269P			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	334					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TCCAGCTTTCTGGGGGAGGTG	0.408																																																	0			4											65.0	62.0	63.0					4																	146072024		2203	4300	6503	146291474	SO:0001819	synonymous_variant	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1002A>C	4.37:g.146072024T>G			146291474	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37																																																																																					0.408	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	
ROCK2	9475	hgsc.bcm.edu	37	2	11334408	11334408	+	Silent	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:11334408G>A	ENST00000315872.6	-	29	4030	c.3582C>T	c.(3580-3582)tcC>tcT	p.S1194S	ROCK2_ENST00000401753.1_Silent_p.S951S	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1194	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		S -> P (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGTAAGGATTGGATTGTTCTT	0.274																																																	0			2											92.0	88.0	89.0					2																	11334408		1798	4040	5838	11251859	SO:0001819	synonymous_variant	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3582C>T	2.37:g.11334408G>A			11251859	Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	37	CCDS42654.1																																																																																				0.274	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3		
GTF2A1L	11036	hgsc.bcm.edu	37	2	48873886	48873886	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:48873886T>C	ENST00000403751.3	+	6	720	c.683T>C	c.(682-684)gTg>gCg	p.V228A	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V932A|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.V885A|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V932A|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.V194A|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V932A|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.V932A	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	228					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATAAAATCGTGCCTGAAGCT	0.418																																																	0			2											123.0	110.0	115.0					2																	48873886		2203	4300	6503	48727390	SO:0001583	missense	11036			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.683T>C	2.37:g.48873886T>C	ENSP00000384597:p.Val228Ala		48727390	B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	T	0.355	-0.942426	0.02322	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T	0.44881	2.91;2.89;2.91;2.91;3.15;0.91	4.52	-4.37	0.03633	.	1.770990	0.03153	N	0.168183	T	0.14614	0.0353	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0	T	0.09122	-1.0689	10	0.15066	T	0.55	.	2.603	0.04871	0.1539:0.4421:0.1569:0.247	.	194;885;932;228;932	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	A	932;932;932;932;885;227;237;194;228	ENSP00000385499:V932A;ENSP00000385701:V932A;ENSP00000378236:V932A;ENSP00000311493:V932A;ENSP00000378234:V885A;ENSP00000396702:V237A	ENSP00000384597:V228A	V	+	2	0	STON1-GTF2A1L;GTF2A1L	48727390	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	0.302000	0.19192	-0.700000	0.05070	0.402000	0.26972	GTG		0.418	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	
XPO1	7514	hgsc.bcm.edu	37	2	61713084	61713084	+	Missense_Mutation	SNP	A	A	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:61713084A>C	ENST00000401558.2	-	20	3054	c.2327T>G	c.(2326-2328)tTt>tGt	p.F776C	XPO1_ENST00000406957.1_Missense_Mutation_p.F776C|RP11-355B11.2_ENST00000578974.2_RNA|XPO1_ENST00000404992.2_Missense_Mutation_p.F776C|RP11-355B11.2_ENST00000605437.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	776					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AGGGGGAACAAAATTTTCAGC	0.388			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0			2											50.0	48.0	49.0					2																	61713084		2203	4300	6503	61566588	SO:0001583	missense	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2327T>G	2.37:g.61713084A>C	ENSP00000384863:p.Phe776Cys		61566588	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.581048	0.86748	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.69561	-0.41;-0.41;-0.41	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83667	0.0164	10	0.44086	T	0.13	-22.6201	16.8061	0.85666	1.0:0.0:0.0:0.0	.	423;776	B3KWD0;O14980	.;XPO1_HUMAN	C	776	ENSP00000384863:F776C;ENSP00000385942:F776C;ENSP00000385559:F776C	ENSP00000384863:F776C	F	-	2	0	XPO1	61566588	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.236000	0.95360	2.367000	0.80283	0.528000	0.53228	TTT		0.388	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400	
PCBP1	5093	hgsc.bcm.edu	37	2	70315374	70315374	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:70315374C>A	ENST00000303577.5	+	1	790	c.499C>A	c.(499-501)Ctg>Atg	p.L167M	PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	167					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CCTGGTCATGCTGGAGACGCT	0.642																																					Colon(85;1146 1307 3484 18706 25380)												0			2											51.0	47.0	48.0					2																	70315374		2203	4300	6503	70168878	SO:0001583	missense	5093				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.499C>A	2.37:g.70315374C>A	ENSP00000305556:p.Leu167Met		70168878	Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941483	0.53079	.	.	ENSG00000169564	ENST00000303577	T	0.44083	0.93	4.03	3.16	0.36331	K Homology (1);	0.000000	0.64402	D	0.000004	T	0.47710	0.1460	L	0.46157	1.445	0.58432	D	0.999997	P	0.41214	0.742	P	0.53006	0.715	T	0.45789	-0.9237	10	0.52906	T	0.07	.	10.0866	0.42421	0.0:0.8997:0.0:0.1003	.	167	Q15365	PCBP1_HUMAN	M	167	ENSP00000305556:L167M	ENSP00000305556:L167M	L	+	1	2	PCBP1	70168878	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.639000	0.61361	1.303000	0.44873	0.650000	0.86243	CTG		0.642	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196	
CD207	50489	hgsc.bcm.edu	37	2	71060828	71060828	+	Missense_Mutation	SNP	G	G	A	rs370455494		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:71060828G>A	ENST00000410009.3	-	3	559	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	172					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TGGAGTGCCCGGATCTTTGTA	0.428																																																	0			2						G	TRP/ARG	0,3698		0,0,1849	82.0	73.0	75.0		514	4.1	0.0	2		75	1,8199		0,1,4099	no	missense	CD207	NM_015717.3	101	0,1,5948	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	172/329	71060828	1,11897	1849	4100	5949	70914336	SO:0001583	missense	50489			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.514C>T	2.37:g.71060828G>A	ENSP00000386378:p.Arg172Trp		70914336		Missense_Mutation	SNP	ENST00000410009.3	37		.	.	.	.	.	.	.	.	.	.	G	6.526	0.465360	0.12402	0.0	1.22E-4	ENSG00000116031	ENST00000410009	T	0.29917	1.55	4.12	4.12	0.48240	.	1.382280	0.04510	N	0.382668	T	0.25568	0.0622	L	0.27053	0.805	0.09310	N	1	D	0.67145	0.996	B	0.39590	0.304	T	0.32719	-0.9896	10	0.59425	D	0.04	.	12.1703	0.54155	0.0:0.0:1.0:0.0	.	172	Q9UJ71	CLC4K_HUMAN	W	172	ENSP00000386378:R172W	ENSP00000386378:R172W	R	-	1	2	CD207	70914336	0.043000	0.20138	0.029000	0.17559	0.004000	0.04260	1.111000	0.31159	2.568000	0.86640	0.655000	0.94253	CGG		0.428	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717	
CTNNA2	1496	hgsc.bcm.edu	37	2	80101311	80101311	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:80101311A>G	ENST00000402739.4	+	5	700	c.695A>G	c.(694-696)gAt>gGt	p.D232G	CTNNA2_ENST00000496558.1_Missense_Mutation_p.D232G|CTNNA2_ENST00000466387.1_Missense_Mutation_p.D232G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.D232G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.D266G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.D232G	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	232					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGCCACCCAGATGTCGCCGCT	0.577																																																	0			2											52.0	56.0	55.0					2																	80101311		2074	4223	6297	79954819	SO:0001583	missense	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.695A>G	2.37:g.80101311A>G	ENSP00000384638:p.Asp232Gly		79954819	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	A	22.4	4.289435	0.80914	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.50752	0.1634	M	0.81802	2.56	0.80722	D	1	P;P;P	0.43885	0.575;0.82;0.82	P;P;P	0.48425	0.503;0.577;0.577	T	0.49881	-0.8892	10	0.23891	T	0.37	.	15.9724	0.80031	1.0:0.0:0.0:0.0	.	232;232;232	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	G	232;232;266;232;232;232	ENSP00000418191:D232G;ENSP00000419295:D232G;ENSP00000355398:D266G;ENSP00000384638:D232G;ENSP00000444675:D232G;ENSP00000441705:D232G	ENSP00000355398:D266G	D	+	2	0	CTNNA2	79954819	1.000000	0.71417	0.976000	0.42696	0.811000	0.45836	9.339000	0.96797	2.169000	0.68431	0.528000	0.53228	GAT		0.577	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
AMER3	205147	hgsc.bcm.edu	37	2	131519855	131519855	+	Silent	SNP	G	G	A	rs376219909		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:131519855G>A	ENST00000423981.1	+	2	320	c.210G>A	c.(208-210)gcG>gcA	p.A70A	AMER3_ENST00000321420.4_Silent_p.A70A	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	70					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										ACAAAGGGGCGCAGCTGGACC	0.637																																																	0			2						G	,,,	0,4390		0,0,2195	18.0	28.0	25.0		210,210,210,210	-10.8	0.0	2		25	1,8589		0,1,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	,,,	0,1,6489	AA,AG,GG		0.0116,0.0,0.0077	,,,	70/862,70/862,70/862,70/862	131519855	1,12979	2195	4295	6490	131236325	SO:0001819	synonymous_variant	205147			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.210G>A	2.37:g.131519855G>A			131236325	B7ZLH6	Silent	SNP	ENST00000423981.1	37	CCDS2164.1																																																																																				0.637	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
AMER3	205147	hgsc.bcm.edu	37	2	131520306	131520306	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:131520306G>A	ENST00000423981.1	+	2	771	c.661G>A	c.(661-663)Gag>Aag	p.E221K	AMER3_ENST00000321420.4_Missense_Mutation_p.E221K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	221					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GTTGGACAGCGAGCTCCTGGC	0.677																																																	0			2											40.0	47.0	44.0					2																	131520306		2199	4293	6492	131236776	SO:0001583	missense	205147			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.661G>A	2.37:g.131520306G>A	ENSP00000392700:p.Glu221Lys		131236776	B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941296	0.73557	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.19938	2.11;2.11	5.21	5.21	0.72293	.	0.066701	0.56097	D	0.000024	T	0.42177	0.1191	M	0.65975	2.015	0.38725	D	0.953527	D	0.69078	0.997	D	0.63033	0.91	T	0.40739	-0.9547	10	0.66056	D	0.02	.	14.6296	0.68647	0.0:0.0:1.0:0.0	.	221	Q8N944	F123C_HUMAN	K	221	ENSP00000314914:E221K;ENSP00000392700:E221K	ENSP00000314914:E221K	E	+	1	0	FAM123C	131236776	1.000000	0.71417	0.203000	0.23512	0.472000	0.32918	7.661000	0.83786	2.597000	0.87782	0.561000	0.74099	GAG		0.677	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
PLA2R1	22925	hgsc.bcm.edu	37	2	160901619	160901619	+	Missense_Mutation	SNP	T	T	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:160901619T>A	ENST00000283243.7	-	2	365	c.159A>T	c.(157-159)caA>caT	p.Q53H	PLA2R1_ENST00000392771.1_Missense_Mutation_p.Q53H	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	53	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATTTACCTGCTTGAATGCATT	0.373																																																	0			2											57.0	55.0	56.0					2																	160901619		2203	4300	6503	160609865	SO:0001583	missense	22925			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.159A>T	2.37:g.160901619T>A	ENSP00000283243:p.Gln53His		160609865	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.109913	0.56398	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.38560	1.13;1.13	6.17	0.346	0.16017	Ricin B-related lectin (1);Ricin B lectin (2);	0.362916	0.29314	N	0.012507	T	0.50514	0.1620	M	0.77103	2.36	0.35553	D	0.804004	D;D;D	0.62365	0.975;0.989;0.991	P;P;P	0.55391	0.775;0.742;0.687	T	0.58451	-0.7634	10	0.72032	D	0.01	.	5.2015	0.15267	0.0:0.2486:0.2519:0.4994	.	53;53;53	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	H	53	ENSP00000283243:Q53H;ENSP00000376524:Q53H	ENSP00000283243:Q53H	Q	-	3	2	PLA2R1	160609865	1.000000	0.71417	0.997000	0.53966	0.478000	0.33099	0.801000	0.27055	0.105000	0.17753	-0.290000	0.09829	CAA		0.373	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
KLHL23	151230	hgsc.bcm.edu	37	2	170592587	170592587	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:170592587A>G	ENST00000392647.2	+	2	1307	c.1063A>G	c.(1063-1065)Atg>Gtg	p.M355V	KLHL23_ENST00000272797.4_Missense_Mutation_p.M355V|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	355										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						AGGTTTGCCAATGCTCAATGC	0.468																																																	0			2											220.0	208.0	212.0					2																	170592587		2203	4300	6503	170300833	SO:0001583	missense	151230			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1063A>G	2.37:g.170592587A>G	ENSP00000376419:p.Met355Val		170300833	Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858812	0.71834	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.71103	-0.54;-0.54;-0.54	5.8	5.8	0.92144	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.87398	0.6167	M	0.91140	3.18	0.29478	N	0.85653	D	0.69078	0.997	D	0.76071	0.987	D	0.90196	0.4253	9	0.87932	D	0	.	16.1508	0.81622	1.0:0.0:0.0:0.0	.	355	Q8NBE8	KLH23_HUMAN	V	355;355;176	ENSP00000272797:M355V;ENSP00000376419:M355V;ENSP00000394732:M176V	ENSP00000272797:M355V	M	+	1	0	KLHL23	170300833	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.491000	0.81471	2.207000	0.71202	0.528000	0.53228	ATG		0.468	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711	
OSBPL6	114880	hgsc.bcm.edu	37	2	179247881	179247881	+	Silent	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:179247881T>C	ENST00000190611.4	+	17	2128	c.1752T>C	c.(1750-1752)tcT>tcC	p.S584S	OSBPL6_ENST00000315022.2_Silent_p.S588S|OSBPL6_ENST00000359685.3_Silent_p.S548S|OSBPL6_ENST00000392505.2_Silent_p.S609S|OSBPL6_ENST00000409045.3_Silent_p.S553S|OSBPL6_ENST00000409631.1_Silent_p.S548S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	584					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AAGACCTGTCTAAAGTCTCTA	0.507																																																	0			2											81.0	83.0	82.0					2																	179247881		2203	4300	6503	178956127	SO:0001819	synonymous_variant	114880			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1752T>C	2.37:g.179247881T>C			178956127	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	CCDS2277.1																																																																																				0.507	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	
TTN	7273	hgsc.bcm.edu	37	2	179457221	179457221	+	Silent	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:179457221T>C	ENST00000591111.1	-	251	54812	c.54588A>G	c.(54586-54588)ccA>ccG	p.P18196P	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.P10897P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.P10964P|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.P10772P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.P19837P|TTN_ENST00000342992.6_Silent_p.P17269P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18196	Ig-like 105.				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)			TGCTACCAACTGGAGTCACAT	0.398																																																	0			2											283.0	263.0	269.0					2																	179457221		1900	4115	6015	179165467	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.54588A>G	2.37:g.179457221T>C			179165467	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																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
FAM171B	165215	hgsc.bcm.edu	37	2	187618691	187618691	+	Silent	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:187618691C>T	ENST00000304698.5	+	6	1130	c.927C>T	c.(925-927)gtC>gtT	p.V309V		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	309						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGGGAATGGTCAAGGAACATA	0.378																																																	0			2											129.0	123.0	125.0					2																	187618691		2203	4300	6503	187326936	SO:0001819	synonymous_variant	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.927C>T	2.37:g.187618691C>T			187326936	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	CCDS33347.1																																																																																				0.378	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
ANKRD44	91526	hgsc.bcm.edu	37	2	197878358	197878358	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:197878358G>A	ENST00000328737.2	-	18	1802	c.1726C>T	c.(1726-1728)Cgc>Tgc	p.R576C	ANKRD44_ENST00000282272.8_Missense_Mutation_p.R593C|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R576C|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R576C			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	601										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGAGCAGTGCGGCCTTTCTCA	0.502																																																	0			2											226.0	215.0	218.0					2																	197878358		2203	4300	6503	197586603	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1726C>T	2.37:g.197878358G>A	ENSP00000331516:p.Arg576Cys		197586603	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	G	15.72	2.915765	0.52546	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79704	-0.1692	10	0.42905	T	0.14	.	17.2648	0.87083	0.0:0.0:1.0:0.0	.	619	Q8N8A2-2	.	C	416;593;576;576;576;276	ENSP00000403415:R416C;ENSP00000282272:R593C;ENSP00000331516:R576C;ENSP00000402420:R576C;ENSP00000338794:R576C;ENSP00000416319:R276C	ENSP00000282272:R593C	R	-	1	0	ANKRD44	197586603	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.310000	0.59141	2.294000	0.77228	0.655000	0.94253	CGC		0.502	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	
MAP2	4133	hgsc.bcm.edu	37	2	210560823	210560823	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:210560823G>A	ENST00000360351.4	+	7	4435	c.3929G>A	c.(3928-3930)cGt>cAt	p.R1310H	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R1306H	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1310					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CACAGCGTGCGTTTTGCAGCC	0.512																																					Pancreas(27;423 979 28787 29963)												0			2											110.0	111.0	111.0					2																	210560823		2203	4300	6503	210269068	SO:0001583	missense	10988				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3929G>A	2.37:g.210560823G>A	ENSP00000353508:p.Arg1310His		210269068	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497729	0.44455	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.26810	1.71;1.71	5.73	5.73	0.89815	MAP2/Tau projection (1);	0.103218	0.43579	D	0.000545	T	0.36358	0.0964	L	0.47716	1.5	0.54753	D	0.999988	D;D	0.56968	0.973;0.978	P;P	0.54312	0.632;0.748	T	0.05370	-1.0889	10	0.87932	D	0	-8.663	13.141	0.59434	0.0729:0.0:0.9271:0.0	.	1306;1310	P11137-3;P11137	.;MAP2_HUMAN	H	1310;1306	ENSP00000353508:R1310H;ENSP00000392164:R1306H	ENSP00000353508:R1310H	R	+	2	0	MAP2	210269068	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	7.279000	0.78599	2.718000	0.92993	0.650000	0.86243	CGT		0.512	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
ERBB4	2066	hgsc.bcm.edu	37	2	212288942	212288942	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:212288942T>C	ENST00000342788.4	-	23	3114	c.2804A>G	c.(2803-2805)aAa>aGa	p.K935R	ERBB4_ENST00000402597.1_Missense_Mutation_p.K925R|ERBB4_ENST00000436443.1_Missense_Mutation_p.K935R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	935	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K935I(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACGTTCTCCTTTCTCTAATAA	0.393										TSP Lung(8;0.080)																																							1	Substitution - Missense(1)	lung(1)	2											113.0	110.0	111.0					2																	212288942		2203	4300	6503	211997187	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2804A>G	2.37:g.212288942T>C	ENSP00000342235:p.Lys935Arg		211997187	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.142859	0.77888	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.82711	-1.64;-1.64;-1.64	6.16	6.16	0.99307	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	T	0.81678	0.4873	L	0.31294	0.92	0.80722	D	1	P;B;P;P	0.40211	0.659;0.018;0.659;0.707	B;B;B;P	0.46389	0.381;0.324;0.381;0.515	D	0.83458	0.0052	10	0.72032	D	0.01	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	925;925;935;935	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	R	935;935;925	ENSP00000342235:K935R;ENSP00000403204:K935R;ENSP00000385565:K925R	ENSP00000342235:K935R	K	-	2	0	ERBB4	211997187	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.980000	0.88113	2.367000	0.80283	0.528000	0.53228	AAA		0.393	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
VWC2L	402117	hgsc.bcm.edu	37	2	215440510	215440510	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:215440510C>T	ENST00000312504.5	+	4	1437	c.635C>T	c.(634-636)tCg>tTg	p.S212L	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_3'UTR	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	212					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GCTCAGTGTTCGAAACGTGAA	0.473																																																	0			2											226.0	222.0	223.0					2																	215440510		2036	4193	6229	215148755	SO:0001583	missense	402117			AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.635C>T	2.37:g.215440510C>T	ENSP00000308976:p.Ser212Leu		215148755	A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	ENST00000312504.5	37	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986362	0.35036	.	.	ENSG00000174453	ENST00000312504	T	0.44083	0.93	5.58	4.71	0.59529	.	.	.	.	.	T	0.27169	0.0666	N	0.14661	0.345	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.03840	-1.0999	9	0.27082	T	0.32	-1.1663	14.1936	0.65654	0.0:0.9285:0.0:0.0714	.	212	B2RUY7	VWC2L_HUMAN	L	212	ENSP00000308976:S212L	ENSP00000308976:S212L	S	+	2	0	VWC2L	215148755	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.745000	0.68672	1.360000	0.45960	0.655000	0.94253	TCG		0.473	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500	
ATIC	471	hgsc.bcm.edu	37	2	216177301	216177301	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:216177301T>C	ENST00000236959.9	+	2	426	c.100T>C	c.(100-102)Tcc>Ccc	p.S34P	ATIC_ENST00000435675.1_Missense_Mutation_p.S33P|ATIC_ENST00000540518.1_5'UTR	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	34					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	TCTGGTCGCTTCCGGAGGGAC	0.468			T	ALK	ALCL																																			Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	0			2											92.0	90.0	91.0					2																	216177301		2203	4300	6503	215885546	SO:0001583	missense	471				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.100T>C	2.37:g.216177301T>C	ENSP00000236959:p.Ser34Pro		215885546	A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037540	0.93630	.	.	ENSG00000138363	ENST00000236959;ENST00000435675	D;D	0.83335	-1.71;-1.71	5.41	5.41	0.78517	Methylglyoxal synthase-like domain (4);	0.000000	0.85682	D	0.000000	D	0.93446	0.7909	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95153	0.8274	10	0.87932	D	0	-14.0384	15.1233	0.72463	0.0:0.0:0.0:1.0	.	33;34	E9PBU3;P31939	.;PUR9_HUMAN	P	34;33	ENSP00000236959:S34P;ENSP00000415935:S33P	ENSP00000236959:S34P	S	+	1	0	ATIC	215885546	1.000000	0.71417	0.995000	0.50966	0.910000	0.53928	6.610000	0.74178	2.058000	0.61347	0.533000	0.62120	TCC		0.468	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044	
CNPPD1	27013	hgsc.bcm.edu	37	2	220037364	220037364	+	Missense_Mutation	SNP	A	A	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:220037364A>C	ENST00000409789.1	-	9	1604	c.1177T>G	c.(1177-1179)Tcc>Gcc	p.S393A	SLC23A3_ENST00000295738.7_5'Flank|SLC23A3_ENST00000455516.2_5'Flank|SLC23A3_ENST00000409878.3_5'Flank|SLC23A3_ENST00000396775.3_5'Flank|CNPPD1_ENST00000360507.5_Missense_Mutation_p.S393A			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	393					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CTGAAAAGGGAACATTGCTGA	0.572																																																	0			2											94.0	93.0	94.0					2																	220037364		2203	4300	6503	219745608	SO:0001583	missense	27013			AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.1177T>G	2.37:g.220037364A>C	ENSP00000386277:p.Ser393Ala		219745608	B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	ENST00000409789.1	37	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706656	0.48412	.	.	ENSG00000115649	ENST00000360507;ENST00000409789	T;T	0.16073	2.37;2.37	5.04	3.9	0.45041	.	0.665977	0.15884	N	0.239911	T	0.11793	0.0287	N	0.24115	0.695	0.22803	N	0.998719	P	0.46656	0.882	B	0.41236	0.351	T	0.10314	-1.0635	10	0.40728	T	0.16	-10.9626	8.8662	0.35286	0.9149:0.0:0.0851:0.0	.	393	Q9BV87	CNPD1_HUMAN	A	393	ENSP00000353698:S393A;ENSP00000386277:S393A	ENSP00000353698:S393A	S	-	1	0	CNPPD1	219745608	1.000000	0.71417	0.999000	0.59377	0.522000	0.34438	2.876000	0.48498	0.955000	0.37878	0.533000	0.62120	TCC		0.572	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680	
SERPINE2	5270	hgsc.bcm.edu	37	2	224856595	224856595	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:224856595T>C	ENST00000258405.4	-	4	852	c.610A>G	c.(610-612)Aaa>Gaa	p.K204E	SERPINE2_ENST00000409304.1_Missense_Mutation_p.K204E|SERPINE2_ENST00000447280.2_Missense_Mutation_p.K216E|SERPINE2_ENST00000409840.3_Missense_Mutation_p.K204E	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	204			K -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAAGTGCGTTTCTTTGTGTTC	0.537																																																	0			2											162.0	122.0	136.0					2																	224856595		2203	4300	6503	224564839	SO:0001583	missense	5270			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.610A>G	2.37:g.224856595T>C	ENSP00000258405:p.Lys204Glu		224564839	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.252796	0.39797	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.8	5.8	0.92144	Serpin domain (3);	0.093302	0.64402	D	0.000001	T	0.81394	0.4813	N	0.26042	0.785	0.46499	D	0.999074	P;P	0.48407	0.91;0.91	P;P	0.51657	0.676;0.676	T	0.77975	-0.2385	10	0.02654	T	1	.	16.1506	0.81618	0.0:0.0:0.0:1.0	.	216;204	B4DIF2;P07093	.;GDN_HUMAN	E	204;204;204;216;204	ENSP00000386412:K204E;ENSP00000258405:K204E;ENSP00000386969:K204E;ENSP00000415786:K216E;ENSP00000408452:K204E	ENSP00000258405:K204E	K	-	1	0	SERPINE2	224564839	1.000000	0.71417	0.850000	0.33497	0.635000	0.38103	4.678000	0.61641	2.206000	0.71126	0.528000	0.53228	AAA		0.537	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216	
NYAP2	57624	hgsc.bcm.edu	37	2	226273776	226273776	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr2:226273776G>T	ENST00000272907.6	+	2	593	c.180G>T	c.(178-180)gaG>gaT	p.E60D	NYAP2_ENST00000409269.2_Missense_Mutation_p.E60D	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	60					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ATTTGAAAGAGAAGAATGAAA	0.383																																																	0			2											62.0	54.0	56.0					2																	226273776		1842	4088	5930	225982020	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.180G>T	2.37:g.226273776G>T	ENSP00000272907:p.Glu60Asp		225982020	A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521944	0.64747	.	.	ENSG00000144460	ENST00000272907;ENST00000409269	T	0.48522	0.81	5.82	1.53	0.23141	.	0.062767	0.64402	D	0.000009	T	0.61565	0.2357	M	0.72894	2.215	0.34609	D	0.717413	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.68481	-0.5397	10	0.56958	D	0.05	-31.3877	8.2198	0.31534	0.4978:0.0:0.5022:0.0	.	60;60	Q9P242-2;Q9P242	.;K1486_HUMAN	D	60	ENSP00000272907:E60D	ENSP00000272907:E60D	E	+	3	2	KIAA1486	225982020	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.666000	0.25097	0.391000	0.25143	0.557000	0.71058	GAG		0.383	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
GLIPR2	152007	hgsc.bcm.edu	37	9	36148567	36148567	+	Missense_Mutation	SNP	C	C	T	rs201812895		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr9:36148567C>T	ENST00000377960.4	+	3	180	c.146C>T	c.(145-147)aCg>aTg	p.T49M	GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.T49M|GLIPR2_ENST00000474050.1_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	49	SCP.				positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						CTGGCCAGCACGAGGATCCTC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17326	0.0		0.001	False		,,,				2504	0.0																0			9						C	MET/THR	0,4406		0,0,2203	99.0	83.0	88.0		146	5.6	1.0	9		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLIPR2	NM_022343.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	49/155	36148567	1,13005	2203	4300	6503	36138567	SO:0001583	missense	152007			AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"""chromosome 9 open reading frame 19"""	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.146C>T	9.37:g.36148567C>T	ENSP00000367196:p.Thr49Met		36138567	Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	Missense_Mutation	SNP	ENST00000377960.4	37	CCDS6598.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.3	4.124752	0.77436	0.0	1.16E-4	ENSG00000122694	ENST00000377959;ENST00000377960	T;T	0.45276	0.9;2.44	5.61	5.61	0.85477	CAP domain (3);	0.196919	0.52532	N	0.000064	T	0.57344	0.2047	L	0.47716	1.5	0.80722	D	1	D;D;D;P	0.89917	1.0;0.998;0.995;0.502	D;P;P;B	0.72338	0.977;0.866;0.71;0.166	T	0.53662	-0.8407	10	0.48119	T	0.1	-10.0846	15.4923	0.75619	0.0:1.0:0.0:0.0	.	49;246;49;49	B4DQC5;D3DRP5;Q9H4G4;Q5VZR0	.;.;GAPR1_HUMAN;.	M	49	ENSP00000367195:T49M;ENSP00000367196:T49M	ENSP00000367195:T49M	T	+	2	0	GLIPR2	36138567	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.260000	0.65490	2.793000	0.96121	0.655000	0.94253	ACG		0.592	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052414.1	NM_022343	
ZNF782	158431	hgsc.bcm.edu	37	9	99581837	99581837	+	Silent	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr9:99581837C>T	ENST00000481138.1	-	6	1129	c.468G>A	c.(466-468)caG>caA	p.Q156Q	ZNF782_ENST00000535338.1_Silent_p.Q24Q|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	156					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)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CTTTTGAATACTGACAGTGTG	0.433																																																	0			9											86.0	88.0	88.0					9																	99581837		2203	4300	6503	98621658	SO:0001819	synonymous_variant	158431			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.468G>A	9.37:g.99581837C>T			98621658	B2RNR0	Silent	SNP	ENST00000481138.1	37	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	C	8.776	0.927094	0.18056	.	.	ENSG00000196597	ENST00000289032	.	.	.	3.28	-4.64	0.03349	.	.	.	.	.	T	0.26810	0.0656	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29274	-1.0017	4	.	.	.	.	6.4881	0.22099	0.0:0.2462:0.1481:0.6057	.	.	.	.	I	145	.	.	V	-	1	0	ZNF782	98621658	0.000000	0.05858	0.000000	0.03702	0.723000	0.41478	-1.921000	0.01569	-1.265000	0.02449	-0.143000	0.13931	GTA		0.433	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662	
AKNA	80709	hgsc.bcm.edu	37	9	117119200	117119200	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr9:117119200T>C	ENST00000307564.4	-	13	2950	c.2789A>G	c.(2788-2790)gAa>gGa	p.E930G	AKNA_ENST00000374075.5_Missense_Mutation_p.E849G|AKNA_ENST00000223791.3_Missense_Mutation_p.E390G|AKNA_ENST00000374088.3_Missense_Mutation_p.E930G	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	930	PEST.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCTGCTTGTTTCTGAGCCCAC	0.562																																																	0			9											188.0	159.0	168.0					9																	117119200		2203	4300	6503	116159021	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2789A>G	9.37:g.117119200T>C	ENSP00000303769:p.Glu930Gly		116159021	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.902696	0.72754	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T	0.37235	1.49;1.49;1.21;1.46	5.3	5.3	0.74995	.	0.000000	0.53938	D	0.000059	T	0.52549	0.1741	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.996	T	0.49380	-0.8946	10	0.37606	T	0.19	-19.9975	11.6392	0.51222	0.0:0.0:0.0:1.0	.	930;849	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	G	930;930;390;849	ENSP00000303769:E930G;ENSP00000363201:E930G;ENSP00000223791:E390G;ENSP00000363188:E849G	ENSP00000223791:E390G	E	-	2	0	AKNA	116159021	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	4.015000	0.57152	2.009000	0.58944	0.379000	0.24179	GAA		0.562	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	
OR1J4	26219	hgsc.bcm.edu	37	9	125282097	125282097	+	Silent	SNP	C	C	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr9:125282097C>A	ENST00000340750.1	+	1	678	c.678C>A	c.(676-678)ctC>ctA	p.L226L		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TCACCATCCTCAAGGCTCCAT	0.463																																																	0			9											157.0	142.0	147.0					9																	125282097		2203	4300	6503	124321918	SO:0001819	synonymous_variant	26219			X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.678C>A	9.37:g.125282097C>A			124321918	A3KFM0|Q6IEZ3|Q96R89	Silent	SNP	ENST00000340750.1	37	CCDS35122.1																																																																																				0.463	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1		
OR1L8	138881	hgsc.bcm.edu	37	9	125330507	125330507	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr9:125330507T>C	ENST00000304865.2	-	1	331	c.250A>G	c.(250-252)Atg>Gtg	p.M84V		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGAAGTTCATCAGCATCTTG	0.458																																																	0			9											79.0	82.0	81.0					9																	125330507		2203	4300	6503	124370328	SO:0001583	missense	138881				CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.250A>G	9.37:g.125330507T>C	ENSP00000306607:p.Met84Val		124370328	A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.177281	0.00312	.	.	ENSG00000171496	ENST00000304865	T	0.01963	4.53	4.39	0.287	0.15714	GPCR, rhodopsin-like superfamily (1);	0.573976	0.14122	N	0.339964	T	0.00496	0.0016	N	0.00119	-2.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45818	-0.9235	10	0.02654	T	1	-0.3644	6.5298	0.22320	0.0:0.642:0.1318:0.2262	.	84	Q8NGR8	OR1L8_HUMAN	V	84	ENSP00000306607:M84V	ENSP00000306607:M84V	M	-	1	0	OR1L8	124370328	0.000000	0.05858	0.004000	0.12327	0.806000	0.45545	-1.854000	0.01664	-0.006000	0.14370	-0.731000	0.03576	ATG		0.458	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1		
SH2D3C	10044	hgsc.bcm.edu	37	9	130506979	130506979	+	Missense_Mutation	SNP	G	G	A	rs370528837		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr9:130506979G>A	ENST00000314830.8	-	7	1777	c.1664C>T	c.(1663-1665)cCg>cTg	p.P555L	SH2D3C_ENST00000429553.1_Missense_Mutation_p.P201L|SH2D3C_ENST00000373276.3_Missense_Mutation_p.P487L|SH2D3C_ENST00000420366.1_Missense_Mutation_p.P397L|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373277.4_Missense_Mutation_p.P398L|SH2D3C_ENST00000373274.3_Missense_Mutation_p.P395L	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	555					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAAGGTGGCCGGGTTGAAGGA	0.597																																																	0			9						G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	112.0	112.0	112.0		602,602,1190,1184,1193,1664	3.6	0.8	9		112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	SH2D3C	NM_001142531.1,NM_001142532.1,NM_001142533.1,NM_001142534.1,NM_005489.2,NM_170600.2	98,98,98,98,98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	201/507,201/507,397/703,395/701,398/704,555/861	130506979	1,13005	2203	4300	6503	129546800	SO:0001583	missense	10044			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1664C>T	9.37:g.130506979G>A	ENSP00000317817:p.Pro555Leu		129546800	A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740313	0.30865	0.0	1.16E-4	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	5.42	3.58	0.41010	.	0.046120	0.85682	N	0.000000	T	0.43033	0.1229	L	0.42581	1.335	0.80722	D	1	P;D;B;B;P	0.53619	0.906;0.961;0.274;0.072;0.929	B;B;B;B;B	0.39876	0.201;0.312;0.028;0.039;0.293	T	0.27839	-1.0062	10	0.12430	T	0.62	-35.3138	10.5231	0.44931	0.1584:0.0:0.8416:0.0	.	395;555;487;398;397	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	L	398;397;487;395;201;555	ENSP00000362374:P398L;ENSP00000388536:P397L;ENSP00000362373:P487L;ENSP00000362371:P395L;ENSP00000394632:P201L;ENSP00000317817:P555L	ENSP00000317817:P555L	P	-	2	0	SH2D3C	129546800	1.000000	0.71417	0.755000	0.31263	0.412000	0.31113	3.499000	0.53310	0.653000	0.30826	-0.221000	0.12465	CCG		0.597	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489	
GTF3C5	9328	hgsc.bcm.edu	37	9	135933284	135933284	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr9:135933284G>A	ENST00000372097.5	+	11	1800	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	GTF3C5_ENST00000372108.5_Missense_Mutation_p.E500K|GTF3C5_ENST00000372099.6_Missense_Mutation_p.E484K|GTF3C5_ENST00000342018.8_Missense_Mutation_p.E431K	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	493	Glu-rich.|Poly-Glu.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ggatgaggaggaggaggaaga	0.582																																																	0			9											94.0	76.0	82.0					9																	135933284		2203	4300	6503	134923105	SO:0001583	missense	9328			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.1477G>A	9.37:g.135933284G>A	ENSP00000361169:p.Glu493Lys		134923105	A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	CCDS6958.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060065	0.76074	.	.	ENSG00000148308	ENST00000372097;ENST00000372099;ENST00000372108;ENST00000342018	T;T;T;T	0.46451	0.88;0.88;0.9;0.87	5.1	5.1	0.69264	.	0.469100	0.24438	N	0.038536	T	0.41926	0.1180	M	0.65975	2.015	0.80722	D	1	P;P	0.36282	0.493;0.546	B;B	0.30495	0.116;0.09	T	0.39643	-0.9604	10	0.33940	T	0.23	10.8254	17.4822	0.87675	0.0:0.0:1.0:0.0	.	500;493	Q9Y5Q8-3;Q9Y5Q8	.;TF3C5_HUMAN	K	493;484;500;431	ENSP00000361169:E493K;ENSP00000361171:E484K;ENSP00000361180:E500K;ENSP00000339530:E431K	ENSP00000339530:E431K	E	+	1	0	GTF3C5	134923105	1.000000	0.71417	0.612000	0.29024	0.645000	0.38454	8.730000	0.91510	2.354000	0.79902	0.491000	0.48974	GAG		0.582	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823	
FREM2	341640	hgsc.bcm.edu	37	13	39425975	39425975	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr13:39425975T>G	ENST00000280481.7	+	11	7111	c.6895T>G	c.(6895-6897)Tct>Gct	p.S2299A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2299	Calx-beta 5.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTCGGCCACCTCTGGAGAAGA	0.527																																																	0			13											58.0	59.0	59.0					13																	39425975		2203	4300	6503	38323975	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6895T>G	13.37:g.39425975T>G	ENSP00000280481:p.Ser2299Ala		38323975	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.902760	0.92035	.	.	ENSG00000150893	ENST00000280481	T	0.26067	1.76	5.63	5.63	0.86233	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	N	0.21583	0.68	0.80722	D	1	D;P	0.71674	0.998;0.937	D;P	0.81914	0.995;0.841	T	0.25572	-1.0128	10	0.56958	D	0.05	.	15.8341	0.78787	0.0:0.0:0.0:1.0	.	2299;2299	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	A	2299	ENSP00000280481:S2299A	ENSP00000280481:S2299A	S	+	1	0	FREM2	38323975	1.000000	0.71417	0.912000	0.35992	0.839000	0.47603	6.174000	0.71943	2.144000	0.66660	0.533000	0.62120	TCT		0.527	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
RB1	5925	hgsc.bcm.edu	37	13	48947598	48947598	+	Silent	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr13:48947598A>G	ENST00000267163.4	+	12	1323	c.1185A>G	c.(1183-1185)caA>caG	p.Q395Q		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	395	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAAGTGATCAACCTTCAGAAA	0.289		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	13											103.0	111.0	108.0					13																	48947598		2203	4289	6492	47845599	SO:0001819	synonymous_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1185A>G	13.37:g.48947598A>G			47845599	A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	CCDS31973.1																																																																																				0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
FNDC3A	22862	hgsc.bcm.edu	37	13	49772150	49772150	+	Silent	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr13:49772150T>C	ENST00000492622.2	+	22	2828	c.2523T>C	c.(2521-2523)agT>agC	p.S841S	FNDC3A_ENST00000541916.1_Silent_p.S841S|FNDC3A_ENST00000398316.3_Silent_p.S785S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	841	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GCCCTTTCAGTGAAGTAGTAG	0.423																																																	0			13											72.0	71.0	71.0					13																	49772150		2203	4300	6503	48670151	SO:0001819	synonymous_variant	22862			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2523T>C	13.37:g.49772150T>C			48670151	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	CCDS41886.1																																																																																				0.423	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923	
UTP14C	9724	hgsc.bcm.edu	37	13	52603442	52603442	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr13:52603442G>T	ENST00000521776.2	+	2	1235	c.502G>T	c.(502-504)Gct>Tct	p.A168S	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	168					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.A168T(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GCCAGCCATTGCTCCCATTGA	0.527																																																	1	Substitution - Missense(1)	ovary(1)	13											60.0	61.0	61.0					13																	52603442		2203	4300	6503	51501443	SO:0001583	missense	440138			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.502G>T	13.37:g.52603442G>T	ENSP00000428619:p.Ala168Ser		51501443	Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	9.069	0.996363	0.19043	.	.	ENSG00000253797	ENST00000521776	T	0.17054	2.3	2.46	0.419	0.16438	.	0.321302	0.36444	N	0.002593	T	0.12433	0.0302	L	0.52905	1.665	0.09310	N	1	P	0.41475	0.751	B	0.37731	0.257	T	0.16424	-1.0403	10	0.30078	T	0.28	-0.2829	4.656	0.12618	0.1432:0.4548:0.402:0.0	.	168	Q5TAP6	UT14C_HUMAN	S	168	ENSP00000428619:A168S	ENSP00000428619:A168S	A	+	1	0	UTP14C	51501443	0.001000	0.12720	0.006000	0.13384	0.975000	0.68041	0.435000	0.21510	-0.056000	0.13221	0.448000	0.29417	GCT		0.527	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645	
THSD1	55901	hgsc.bcm.edu	37	13	52952782	52952782	+	Silent	SNP	C	C	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr13:52952782C>G	ENST00000258613.4	-	5	1501	c.1323G>C	c.(1321-1323)cgG>cgC	p.R441R	THSD1_ENST00000349258.4_Silent_p.R388R|THSD1_ENST00000544466.1_Silent_p.R62R	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	441					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACTTGGCTGGCCGGCCGAACC	0.557																																																	0			13											80.0	81.0	81.0					13																	52952782		2203	4300	6503	51850783	SO:0001819	synonymous_variant	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1323G>C	13.37:g.52952782C>G			51850783	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	ENST00000258613.4	37	CCDS9432.1																																																																																				0.557	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3		
NALCN	259232	hgsc.bcm.edu	37	13	101728279	101728279	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr13:101728279T>G	ENST00000251127.6	-	35	3980	c.3899A>C	c.(3898-3900)tAc>tCc	p.Y1300S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1300					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCCCATCATGTAAGTATATGC	0.323																																																	0			13											100.0	97.0	98.0					13																	101728279		2203	4294	6497	100526280	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3899A>C	13.37:g.101728279T>G	ENSP00000251127:p.Tyr1300Ser		100526280	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182808	0.78677	.	.	ENSG00000102452	ENST00000251127	D	0.98474	-4.95	5.84	5.84	0.93424	Ion transport (1);	0.055265	0.85682	D	0.000000	D	0.97688	0.9242	L	0.49350	1.555	0.80722	D	1	B	0.33318	0.408	P	0.44732	0.459	D	0.97979	1.0348	10	0.62326	D	0.03	.	16.1973	0.82040	0.0:0.0:0.0:1.0	.	1300	Q8IZF0	NALCN_HUMAN	S	1300	ENSP00000251127:Y1300S	ENSP00000251127:Y1300S	Y	-	2	0	NALCN	100526280	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.694000	0.84235	2.222000	0.72286	0.533000	0.62120	TAC		0.323	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
ANKRD26	22852	hgsc.bcm.edu	37	10	27306508	27306508	+	Missense_Mutation	SNP	G	G	T	rs569348833		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr10:27306508G>T	ENST00000376087.4	-	30	4594	c.4429C>A	c.(4429-4431)Cag>Aag	p.Q1477K	ANKRD26_ENST00000436985.2_Missense_Mutation_p.Q1493K|ANKRD26_ENST00000376070.3_Missense_Mutation_p.Q1034K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1476					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGTTTATACTGTTTGACTTGA	0.333																																																	0			10											146.0	133.0	138.0					10																	27306508		1838	4084	5922	27346514	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4429C>A	10.37:g.27306508G>T	ENSP00000365255:p.Gln1477Lys		27346514	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	G	9.828	1.187695	0.21870	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.35421	3.81;1.31;1.32	5.08	2.12	0.27331	.	0.122950	0.35291	N	0.003305	T	0.20780	0.0500	L	0.28192	0.835	0.09310	N	1	B;B;P	0.38677	0.172;0.107;0.642	B;B;B	0.38327	0.163;0.078;0.271	T	0.08330	-1.0727	10	0.37606	T	0.19	.	3.4809	0.07602	0.0838:0.1482:0.4628:0.3052	.	1477;1476;1493	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	K	1034;1477;1493	ENSP00000365238:Q1034K;ENSP00000365255:Q1477K;ENSP00000405112:Q1493K	ENSP00000365238:Q1034K	Q	-	1	0	ANKRD26	27346514	1.000000	0.71417	0.005000	0.12908	0.083000	0.17756	4.529000	0.60588	0.234000	0.21139	0.455000	0.32223	CAG		0.333	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
ANKRD26	22852	hgsc.bcm.edu	37	10	27324249	27324249	+	Missense_Mutation	SNP	A	A	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr10:27324249A>C	ENST00000376087.4	-	24	3295	c.3130T>G	c.(3130-3132)Tta>Gta	p.L1044V	ANKRD26_ENST00000436985.2_Missense_Mutation_p.L1060V|ANKRD26_ENST00000376070.3_Missense_Mutation_p.L601V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1043					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTGTCCTGTAAACGAGAACAT	0.343																																																	0			10											114.0	105.0	108.0					10																	27324249		1872	4097	5969	27364255	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3130T>G	10.37:g.27324249A>C	ENSP00000365255:p.Leu1044Val		27364255	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	A	4.709	0.131864	0.08981	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.19250	2.16;2.16;2.16	5.84	-2.71	0.05986	.	0.340666	0.20657	N	0.088093	T	0.23926	0.0579	L	0.37507	1.11	0.09310	N	1	D;D;B	0.71674	0.998;0.997;0.036	D;D;B	0.83275	0.996;0.991;0.014	T	0.12091	-1.0561	10	0.45353	T	0.12	.	1.6613	0.02792	0.4589:0.2291:0.2012:0.1109	.	1044;1043;1060	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	V	601;1044;1060	ENSP00000365238:L601V;ENSP00000365255:L1044V;ENSP00000405112:L1060V	ENSP00000365238:L601V	L	-	1	2	ANKRD26	27364255	0.007000	0.16637	0.000000	0.03702	0.017000	0.09413	-0.089000	0.11180	-0.409000	0.07553	0.482000	0.46254	TTA		0.343	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
PCDH15	65217	hgsc.bcm.edu	37	10	55913044	55913044	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr10:55913044C>A	ENST00000320301.6	-	14	1994	c.1600G>T	c.(1600-1602)Gtc>Ttc	p.V534F	PCDH15_ENST00000395445.1_Missense_Mutation_p.V541F|PCDH15_ENST00000437009.1_Missense_Mutation_p.V534F|PCDH15_ENST00000409834.1_Missense_Mutation_p.V145F|PCDH15_ENST00000395430.1_Missense_Mutation_p.V534F|PCDH15_ENST00000395446.1_Missense_Mutation_p.V534F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.V497F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.V539F|PCDH15_ENST00000395438.1_Missense_Mutation_p.V534F|PCDH15_ENST00000361849.3_Missense_Mutation_p.V534F|PCDH15_ENST00000373965.2_Missense_Mutation_p.V541F|PCDH15_ENST00000373955.1_Missense_Mutation_p.V534F|PCDH15_ENST00000395433.1_Missense_Mutation_p.V512F|PCDH15_ENST00000373957.3_Missense_Mutation_p.V512F	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	534	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTGCGTCGACTGCAGTGAGC	0.438										HNSCC(58;0.16)																																							0			10											101.0	95.0	97.0					10																	55913044		2203	4300	6503	55583050	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1600G>T	10.37:g.55913044C>A	ENSP00000322604:p.Val534Phe		55583050	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797779	0.31777	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.31	4.4	0.53042	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.40815	0.1132	L	0.45581	1.43	0.30405	N	0.779689	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.17852	0.02;0.009;0.009;0.009;0.024;0.009;0.02;0.003;0.009;0.009;0.009;0.009;0.001;0.009;0.009	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.26693	0.072;0.02;0.02;0.02;0.029;0.02;0.072;0.013;0.02;0.02;0.02;0.02;0.005;0.02;0.02	T	0.46582	-0.9181	9	0.72032	D	0.01	.	5.6745	0.17741	0.1455:0.639:0.1404:0.0752	.	512;534;534;539;534;497;534;534;541;541;534;539;534;512;534	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	F	541;539;534;534;145;541;534;497;534;512;512;534;534;539;534;534	ENSP00000363076:V541F;ENSP00000410304:V539F;ENSP00000378826:V534F;ENSP00000386693:V145F;ENSP00000378832:V541F;ENSP00000378833:V534F;ENSP00000378820:V497F;ENSP00000354950:V534F;ENSP00000378821:V512F;ENSP00000363068:V512F;ENSP00000322604:V534F;ENSP00000378818:V534F;ENSP00000412628:V534F;ENSP00000363066:V534F	ENSP00000322604:V534F	V	-	1	0	PCDH15	55583050	0.007000	0.16637	0.811000	0.32455	0.993000	0.82548	0.051000	0.14141	1.372000	0.46190	0.557000	0.71058	GTC		0.438	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
DOCK1	1793	hgsc.bcm.edu	37	10	128830403	128830403	+	Silent	SNP	C	C	T	rs371528496		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr10:128830403C>T	ENST00000280333.6	+	18	1777	c.1668C>T	c.(1666-1668)gcC>gcT	p.A556A		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	556	DHR-1.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATCCACAGGCCGAAGCAAAGA	0.502																																																	0			10						C		0,4110		0,0,2055	21.0	22.0	22.0		1623	-7.7	0.4	10		22	4,8402		0,4,4199	no	coding-synonymous	DOCK1	NM_001380.3		0,4,6254	TT,TC,CC		0.0476,0.0,0.032		541/1851	128830403	4,12512	2055	4203	6258	128720393	SO:0001819	synonymous_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1668C>T	10.37:g.128830403C>T			128720393	A9Z1Z5	Silent	SNP	ENST00000280333.6	37																																																																																					0.502	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
ADAM8	101	hgsc.bcm.edu	37	10	135086833	135086833	+	Silent	SNP	G	G	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr10:135086833G>T	ENST00000445355.3	-	6	548	c.498C>A	c.(496-498)acC>acA	p.T166T	ADAM8_ENST00000485491.2_Silent_p.T127T|ADAM8_ENST00000415217.3_Silent_p.T166T|ADAM8_ENST00000559180.1_5'UTR	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	166					activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		TGACCCCGCAGGTCCCGGCCG	0.697																																																	0			10											9.0	11.0	11.0					10																	135086833		2122	4210	6332	134936823	SO:0001819	synonymous_variant	101			D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.498C>A	10.37:g.135086833G>T			134936823	B4DVM6|H0YL36|H0YLR0|H0YN39	Silent	SNP	ENST00000445355.3	37	CCDS31319.2																																																																																				0.697	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109	
PLEKHG4B	153478	hgsc.bcm.edu	37	5	156287	156287	+	Silent	SNP	G	G	A	rs6554830	byFrequency	TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr5:156287G>A	ENST00000283426.6	+	8	1292	c.1242G>A	c.(1240-1242)gcG>gcA	p.A414A		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	414							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCGTCCTGGCGCGGCTGAGGA	0.612													G|||	737	0.147165	0.3767	0.0951	5008	,	,		17550	0.0129		0.1233	False		,,,				2504	0.0368																0			5						G		1579,2827	492.9+/-362.5	290,999,914	61.0	57.0	59.0		1242	-7.3	0.1	5	dbSNP_116	59	1065,7535	224.5+/-260.9	61,943,3296	no	coding-synonymous	PLEKHG4B	NM_052909.3		351,1942,4210	AA,AG,GG		12.3837,35.8375,20.3291		414/1272	156287	2644,10362	2203	4300	6503	209287	SO:0001819	synonymous_variant	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1242G>A	5.37:g.156287G>A			209287		Silent	SNP	ENST00000283426.6	37	CCDS34124.1																																																																																				0.612	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
C5orf42	65250	hgsc.bcm.edu	37	5	37226749	37226749	+	Missense_Mutation	SNP	C	C	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr5:37226749C>G	ENST00000508244.1	-	11	2041	c.1948G>C	c.(1948-1950)Gat>Cat	p.D650H	C5orf42_ENST00000425232.2_Missense_Mutation_p.D650H|C5orf42_ENST00000274258.7_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	650						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TATCTTATATCCCAATAATGG	0.338																																																	0			5											36.0	29.0	31.0					5																	37226749		692	1589	2281	37262506	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.1948G>C	5.37:g.37226749C>G	ENSP00000421690:p.Asp650His		37262506	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	16.96	3.264899	0.59431	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	D;D	0.98901	-5.22;-5.22	5.22	5.22	0.72569	.	0.077006	0.49916	U	0.000129	D	0.98466	0.9489	M	0.62723	1.935	0.80722	D	1	D	0.64830	0.994	P	0.56474	0.799	D	0.98956	1.0796	10	0.59425	D	0.04	-9.7011	15.3994	0.74827	0.0:0.8507:0.1493:0.0	.	650	E9PH94	.	H	650	ENSP00000421690:D650H;ENSP00000389014:D650H	ENSP00000389014:D650H	D	-	1	0	C5orf42	37262506	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	4.486000	0.60286	2.440000	0.82611	0.591000	0.81541	GAT		0.338	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
RGS7BP	401190	hgsc.bcm.edu	37	5	63871662	63871662	+	Missense_Mutation	SNP	T	T	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr5:63871662T>A	ENST00000334025.2	+	3	720	c.394T>A	c.(394-396)Tta>Ata	p.L132I	RNU6-294P_ENST00000364999.1_RNA|RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	132					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GCAGTGCTGCTTAGAAATGTA	0.428																																																	0			5											107.0	104.0	105.0					5																	63871662		2203	4300	6503	63907418	SO:0001583	missense	401190			BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.394T>A	5.37:g.63871662T>A	ENSP00000334851:p.Leu132Ile		63907418	B7Z3X1	Missense_Mutation	SNP	ENST00000334025.2	37	CCDS34170.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.813298	0.90707	.	.	ENSG00000186479	ENST00000334025	T	0.56275	0.47	5.91	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	L	0.34521	1.04	0.52099	D	0.999941	D	0.67145	0.996	D	0.75484	0.986	T	0.60556	-0.7240	10	0.72032	D	0.01	-6.4395	8.4949	0.33121	0.0:0.1493:0.0:0.8507	.	132	Q6MZT1	R7BP_HUMAN	I	132	ENSP00000334851:L132I	ENSP00000334851:L132I	L	+	1	2	RGS7BP	63907418	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.290000	0.51755	1.072000	0.40860	0.533000	0.62120	TTA		0.428	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875	
APC	324	hgsc.bcm.edu	37	5	112174631	112174631	+	Nonsense_Mutation	SNP	C	C	T	rs121913331		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr5:112174631C>T	ENST00000457016.1	+	16	3720	c.3340C>T	c.(3340-3342)Cga>Tga	p.R1114*	APC_ENST00000257430.4_Nonsense_Mutation_p.R1114*|APC_ENST00000508376.2_Nonsense_Mutation_p.R1114*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1114	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1114*(30)|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)		AGAAACAAATCGAGTGGGTTC	0.403	R1114*(LOVO_LARGE_INTESTINE)|R1114*(SW948_LARGE_INTESTINE)	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"""	31	Substitution - Nonsense(30)|Unknown(1)	large_intestine(29)|ovary(1)|skin(1)	5	GRCh37	CM920048	APC	M	rs121913331						90.0	82.0	85.0					5																	112174631		2202	4300	6502	112202530	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.3340C>T	5.37:g.112174631C>T	ENSP00000413133:p.Arg1114*		112202530	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.950292	0.97956	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.76	4.88	0.63580	.	0.190581	0.42172	D	0.000759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7869	14.0911	0.64990	0.3279:0.6721:0.0:0.0	.	.	.	.	X	1114;1096;1114;1114;1114	.	ENSP00000257430:R1114X	R	+	1	2	APC	112202530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.208000	0.42797	1.423000	0.47198	0.655000	0.94253	CGA		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175639	112175639	+	Nonsense_Mutation	SNP	C	C	T	rs121913332		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr5:112175639C>T	ENST00000457016.1	+	16	4728	c.4348C>T	c.(4348-4350)Cga>Tga	p.R1450*	APC_ENST00000257430.4_Nonsense_Mutation_p.R1450*|APC_ENST00000508376.2_Nonsense_Mutation_p.R1450*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1450	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.R1450*(153)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.R1450fs*22(1)|p.S1436fs*22(1)|p.R1450fs*5(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)		TCAAACCAAGCGAGAAGTACC	0.478	R1450*(LS123_LARGE_INTESTINE)|R1450*(MKN74_STOMACH)|R1450*(SW1417_LARGE_INTESTINE)|R1450*(SW837_LARGE_INTESTINE)	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"""	159	Substitution - Nonsense(153)|Deletion - Frameshift(4)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(136)|stomach(13)|soft_tissue(4)|small_intestine(3)|endometrium(1)|skin(1)|pancreas(1)	5	GRCh37	CM930030	APC	M	rs121913332						102.0	90.0	94.0					5																	112175639		2202	4300	6502	112203538	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.4348C>T	5.37:g.112175639C>T	ENSP00000413133:p.Arg1450*		112203538	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.651223	0.98901	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	4.2	0.49525	.	0.600559	0.18052	N	0.153248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.0649	14.037	0.64651	0.426:0.574:0.0:0.0	.	.	.	.	X	1450	.	.	R	+	1	2	APC	112203538	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.171000	0.50824	1.564000	0.49628	0.655000	0.94253	CGA		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175680	112175680	+	Silent	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr5:112175680A>G	ENST00000457016.1	+	16	4769	c.4389A>G	c.(4387-4389)agA>agG	p.R1463R	APC_ENST00000257430.4_Silent_p.R1463R|APC_ENST00000508376.2_Silent_p.R1463R|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1463	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.E1464fs*8(17)|p.K1454fs*3(1)|p.K1192fs*3(1)|p.K1462fs*5(1)|p.?(1)|p.R1463S(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)		CTGAAAAGAGAGAGAGTGGAC	0.458		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"""	22	Deletion - Frameshift(19)|Substitution - Missense(1)|Unknown(1)|Complex - frameshift(1)	large_intestine(18)|thyroid(1)|stomach(1)|soft_tissue(1)|skin(1)	5											85.0	80.0	82.0					5																	112175680		2202	4300	6502	112203579	SO:0001819	synonymous_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.4389A>G	5.37:g.112175680A>G			112203579	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.458	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PCDHA2	56146	hgsc.bcm.edu	37	5	140175635	140175635	+	Silent	SNP	C	C	T	rs139541416		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr5:140175635C>T	ENST00000526136.1	+	1	1086	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	PCDHA2_ENST00000378132.1_Silent_p.N362N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.N362N|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	362	Cadherin 4. {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)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCAGAGAACGCTTCCCTGG	0.483																																																	0			5						C	,,,	1,4405	2.1+/-5.4	0,1,2202	95.0	80.0	85.0		,1086,,1086	0.8	0.2	5	dbSNP_134	85	0,8600		0,0,4300	no	intron,coding-synonymous,intron,coding-synonymous	PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_031411.1,NM_031495.1	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	,362/949,,362/825	140175635	1,13005	2203	4300	6503	140155819	SO:0001819	synonymous_variant	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1086C>T	5.37:g.140175635C>T			140155819	O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	CCDS54914.1																																																																																				0.483	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
CSF1R	1436	hgsc.bcm.edu	37	5	149450119	149450119	+	Silent	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr5:149450119G>A	ENST00000286301.3	-	8	1389	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	CSF1R_ENST00000543093.1_Missense_Mutation_p.S302F	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	366	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.L366L(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGGCAGAGAGAGGGTGAAGG	0.592																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	5											24.0	24.0	24.0					5																	149450119		2157	4204	6361	149430312	SO:0001819	synonymous_variant	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1098C>T	5.37:g.149450119G>A			149430312	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996637	0.35226	.	.	ENSG00000182578	ENST00000543093	T	0.37235	1.21	5.58	3.65	0.41850	.	.	.	.	.	T	0.51329	0.1668	.	.	.	0.21220	N	0.999759	D	0.69078	0.997	D	0.64237	0.923	T	0.35351	-0.9792	8	0.37606	T	0.19	.	11.7524	0.51855	0.0:0.3437:0.6563:0.0	.	302	B5A955	.	F	302	ENSP00000445282:S302F	ENSP00000445282:S302F	S	-	2	0	CSF1R	149430312	0.833000	0.29383	0.429000	0.26710	0.865000	0.49528	0.977000	0.29475	1.325000	0.45301	0.561000	0.74099	TCT		0.592	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211	
RANBP17	64901	hgsc.bcm.edu	37	5	170343583	170343583	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr5:170343583C>T	ENST00000523189.1	+	9	1113	c.949C>T	c.(949-951)Cct>Tct	p.P317S		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	317					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACTTGAAAACCCTCAGGTATT	0.328			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0			5											64.0	69.0	67.0					5																	170343583		2203	4298	6501	170276188	SO:0001583	missense	64901			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.949C>T	5.37:g.170343583C>T	ENSP00000427975:p.Pro317Ser		170276188	Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.85|15.85	2.953869|2.953869	0.53293|0.53293	.|.	.|.	ENSG00000204764|ENSG00000204764	ENST00000522734|ENST00000523189;ENST00000545246	.|T	.|0.27890	.|1.64	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Armadillo-type fold (1);	0.000000|0.000000	0.64402|0.64402	D|D	0.000016|0.000016	T|T	0.27098|0.27098	0.0664|0.0664	L|L	0.45581|0.45581	1.43|1.43	0.58432|0.58432	D|D	0.999998|0.999998	.|P	.|0.42785	.|0.79	.|B	.|0.38327	.|0.271	T|T	0.05920|0.05920	-1.0856|-1.0856	6|10	.|0.07325	.|T	.|0.83	-16.3|-16.3	18.4493|18.4493	0.90697|0.90697	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|317	.|Q9H2T7	.|RBP17_HUMAN	L|S	99|317;213	.|ENSP00000427975:P317S	.|ENSP00000373770:P317S	P|P	+|+	2|1	0|0	RANBP17|RANBP17	170276188|170276188	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.509000|7.509000	0.81698|0.81698	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.328	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	
NOP16	51491	hgsc.bcm.edu	37	5	175811236	175811236	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr5:175811236T>C	ENST00000389158.5	-	5	968	c.533A>G	c.(532-534)gAg>gGg	p.E178G	NOP16_ENST00000510123.1_Missense_Mutation_p.S148G|NOP16_ENST00000507413.1_Silent_p.G53G			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	178				E -> D (in Ref. 5; CAG33450). {ECO:0000305}.		intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AACCAGTCACTCCACCTCCAT	0.537																																																	0			5											124.0	125.0	125.0					5																	175811236		2007	4170	6177	175743842	SO:0001583	missense	51491				CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.533A>G	5.37:g.175811236T>C	ENSP00000373810:p.Glu178Gly		175743842	B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	CCDS43403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.956|9.956	1.221417|1.221417	0.22457|0.22457	.|.	.|.	ENSG00000048162|ENSG00000048162	ENST00000389158|ENST00000510123;ENST00000341213;ENST00000451293	.|.	.|.	.|.	5.35|5.35	1.6|1.6	0.23607|0.23607	.|.	.|0.727618	.|0.14101	.|N	.|0.341388	T|T	0.37839|0.37839	0.1018|0.1018	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999999|0.999999	B|P;P	0.02656|0.35745	0.0|0.518;0.518	B|B;B	0.04013|0.30401	0.001|0.115;0.115	T|T	0.15636|0.15636	-1.0430|-1.0430	7|9	.|0.66056	.|D	.|0.02	-1.017|-1.017	8.2334|8.2334	0.31612|0.31612	0.0:0.065:0.2522:0.6827|0.0:0.065:0.2522:0.6827	.|.	178|149;148	Q9Y3C1|Q6PIM0;D6RGD3	NOP16_HUMAN|.;.	G|G	178|148;153;149	.|.	.|ENSP00000340662:S153G	E|S	-|-	2|1	0|0	NOP16|NOP16	175743842|175743842	0.973000|0.973000	0.33851|0.33851	0.532000|0.532000	0.27989|0.27989	0.021000|0.021000	0.10359|0.10359	1.868000|1.868000	0.39509|0.39509	0.191000|0.191000	0.20236|0.20236	-0.996000|-0.996000	0.02517|0.02517	GAG|AGT		0.537	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391	
UNC5A	90249	hgsc.bcm.edu	37	5	176289776	176289776	+	Missense_Mutation	SNP	C	C	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr5:176289776C>G	ENST00000329542.4	+	2	496	c.222C>G	c.(220-222)ttC>ttG	p.F74L	UNC5A_ENST00000261961.3_5'Flank	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	74	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCAGATCTTCTTCAAGTGCA	0.637																																																	0			5											146.0	140.0	142.0					5																	176289776		2203	4300	6503	176222382	SO:0001583	missense	90249			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.222C>G	5.37:g.176289776C>G	ENSP00000332737:p.Phe74Leu		176222382	B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	CCDS34299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.063686|4.063686	0.76187|0.76187	.|.	.|.	ENSG00000113763|ENSG00000113763	ENST00000329542|ENST00000509580	T|.	0.21734|.	1.99|.	3.92|3.92	3.92|3.92	0.45320|0.45320	Immunoglobulin-like fold (1);|.	0.081796|.	0.51477|.	D|.	0.000087|.	T|T	0.58409|0.58409	0.2120|0.2120	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	B;P|.	0.35401|.	0.157;0.499|.	B;B|.	0.33620|.	0.129;0.167|.	T|T	0.56360|0.56360	-0.7992|-0.7992	10|5	0.87932|.	D|.	0|.	-34.2782|-34.2782	16.4942|16.4942	0.84223|0.84223	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	74;74|.	Q6ZN44;Q6ZN44-2|.	UNC5A_HUMAN;.|.	L|V	74|40	ENSP00000332737:F74L|.	ENSP00000332737:F74L|.	F|L	+|+	3|1	2|0	UNC5A|UNC5A	176222382|176222382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.821000|5.821000	0.69257|0.69257	2.206000|2.206000	0.71126|0.71126	0.561000|0.561000	0.74099|0.74099	TTC|CTT		0.637	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300	
ZNF354C	30832	hgsc.bcm.edu	37	5	178505825	178505825	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr5:178505825A>G	ENST00000315475.6	+	5	698	c.392A>G	c.(391-393)gAg>gGg	p.E131G		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GTGGAATTTGAGAGCGAGATA	0.378																																																	0			5											88.0	94.0	92.0					5																	178505825		2203	4300	6503	178438431	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.392A>G	5.37:g.178505825A>G	ENSP00000324064:p.Glu131Gly		178438431	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.765119	0.31228	.	.	ENSG00000177932	ENST00000315475	T	0.05925	3.37	3.87	2.66	0.31614	.	.	.	.	.	T	0.04998	0.0134	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.38499	-0.9658	9	0.39692	T	0.17	-4.6231	7.2189	0.25975	0.7724:0.2276:0.0:0.0	.	131	Q86Y25	Z354C_HUMAN	G	131	ENSP00000324064:E131G	ENSP00000324064:E131G	E	+	2	0	ZNF354C	178438431	0.057000	0.20700	0.003000	0.11579	0.019000	0.09904	1.850000	0.39328	0.610000	0.30035	0.482000	0.46254	GAG		0.378	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		
TCF7L2	6934	hgsc.bcm.edu	37	10	114910883	114910883	+	Splice_Site	SNP	G	G	A			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr10:114910883G>A	ENST00000355995.4	+	9	1508		c.e9+1		TCF7L2_ENST00000538897.1_Splice_Site|TCF7L2_ENST00000352065.5_Splice_Site|TCF7L2_ENST00000355717.4_Splice_Site|TCF7L2_ENST00000369389.1_Splice_Site|TCF7L2_ENST00000545257.1_Splice_Site|TCF7L2_ENST00000542695.1_Splice_Site|TCF7L2_ENST00000369386.1_Splice_Site|TCF7L2_ENST00000534894.1_Splice_Site|TCF7L2_ENST00000543371.1_Splice_Site|TCF7L2_ENST00000369397.4_Splice_Site|TCF7L2_ENST00000536810.1_Splice_Site			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)						blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TCCATAGTTCGTAAGTGTTGC	0.527			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0			10											251.0	196.0	214.0					10																	114910883		2203	4300	6503	114900873	SO:0001630	splice_region_variant	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1001+1G>A	10.37:g.114910883G>A			114900873	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Splice_Site	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	g	19.91	3.915037	0.72983	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695;ENST00000369389;ENST00000277945	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6683	0.91501	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TCF7L2	114900873	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.384000	0.97219	2.413000	0.81919	0.655000	0.94253	.		0.527	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	Intron
CRIPAK	285464	hgsc.bcm.edu	37	4	1388622	1388623	+	Frame_Shift_Ins	INS	-	-	CA	rs79704405|rs540461234|rs558358960	byFrequency	TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr4:1388622_1388623insCA	ENST00000324803.4	+	1	3283_3284	c.323_324insCA	c.(322-327)ctcacgfs	p.LT108fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	108					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L108H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACGTGCCCAT	0.668														506	0.101038	0.0567	0.1427	5008	,	,		19207	0.0169		0.1759	False		,,,				2504	0.1411																1	Substitution - Missense(1)	pancreas(1)	4																																								1378623	SO:0001589	frameshift_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.324_325dupCA	4.37:g.1388623_1388624dupCA	ENSP00000323978:p.Leu108fs		1378622	Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	CCDS3349.1																																																																																				0.668	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
KIAA1211	57482	hgsc.bcm.edu	37	4	57180576	57180577	+	In_Frame_Ins	INS	-	-	GGAGCGGAGGGAGCGGAG	rs71921617|rs138358443|rs11276076	byFrequency	TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr4:57180576_57180577insGGAGCGGAGGGAGCGGAG	ENST00000504228.1	+	6	1013_1014	c.908_909insGGAGCGGAGGGAGCGGAG	c.(907-912)gcggag>gcGGAGCGGAGGGAGCGGAGggag	p.304_305insRRERRE	KIAA1211_ENST00000541073.1_In_Frame_Ins_p.297_298insRRERRE|KIAA1211_ENST00000264229.6_In_Frame_Ins_p.304_305insRRERRE			Q6ZU35	K1211_HUMAN	KIAA1211	304	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGGAGGACGCGGAGCGGAGGG	0.733														1350	0.269569	0.2716	0.2781	5008	,	,		14300	0.0694		0.4076	False		,,,				2504	0.3252																0			4								903,2311		258,387,962						-10.2	0.0		dbSNP_130	6	2065,4451		612,841,1805	no	coding	KIAA1211	NM_020722.1		870,1228,2767	A1A1,A1R,RR		31.6912,28.0958,30.5036				2968,6762				56875334	SO:0001652	inframe_insertion	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	Exception_encountered	4.37:g.57180576_57180577insGGAGCGGAGGGAGCGGAG	ENSP00000423366:p.Glu304_Arg305insArgArgGluArgArgGlu		56875333	Q9NTE2|Q9NTP8|Q9ULK9	In_Frame_Ins	INS	ENST00000504228.1	37	CCDS43230.1																																																																																				0.733	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	
EYS	346007	hgsc.bcm.edu	37	6	65016978	65016979	+	Intron	DEL	GA	GA	-	rs35395170|rs60972590|rs66811225	byFrequency	TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	GA	GA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr6:65016978_65016979delGA	ENST00000370621.3	-	30	6605				EYS_ENST00000370616.2_Intron|EYS_ENST00000503581.1_Intron			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACAGGCATCTgagagagagaga	0.361														3376	0.674121	0.6967	0.6758	5008	,	,		18287	0.5179		0.7217	False		,,,				2504	0.7546																0			6																																								65074938	SO:0001627	intron_variant	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6079-3TC>-	6.37:g.65016988_65016989delGA			65074937	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Frame_Shift_Del	DEL	ENST00000370621.3	37																																																																																					0.361	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
Unknown	0	hgsc.bcm.edu	37	9	18075	18075	+	IGR	DEL	G	G	-			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr9:18075delG								None (None upstream) : MIR1302-2 (9581 downstream)																							TGGATCCTGTGGCGGGGGCGT	0.662																																																	0			9																																								8075	SO:0001628	intergenic_variant	375690																															9.37:g.18075delG			8075		Frame_Shift_Del	DEL		37																																																																																				0	0.662								
MARS	4141	hgsc.bcm.edu	37	12	57883053	57883053	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr12:57883053delT	ENST00000262027.5	+	3	338	c.204delT	c.(202-204)tatfs	p.Y68fs	MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR|ARHGAP9_ENST00000550288.1_5'Flank|ARHGAP9_ENST00000393797.2_5'Flank	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	68					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGGGCAGATATTTTTTTTTGT	0.488																																																	0			12											103.0	103.0	103.0					12																	57883053		2203	4300	6503	56169320	SO:0001589	frameshift_variant	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.204delT	12.37:g.57883053delT	ENSP00000262027:p.Tyr68fs		56169320	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Frame_Shift_Del	DEL	ENST00000262027.5	37	CCDS8942.1																																																																																				0.488	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990	
USP31	57478	hgsc.bcm.edu	37	16	23116834	23116834	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr16:23116834delG	ENST00000219689.7	-	5	1016	c.1017delC	c.(1015-1017)gccfs	p.A339fs		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ACAGAGGTACGGCCACACCAA	0.468																																																	0			16											123.0	100.0	108.0					16																	23116834		2197	4300	6497	23024335	SO:0001589	frameshift_variant	84196			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1017delC	16.37:g.23116834delG	ENSP00000219689:p.Ala339fs		23024335	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Frame_Shift_Del	DEL	ENST00000219689.7	37	CCDS10607.1																																																																																				0.468	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	
TGIF1	7050	hgsc.bcm.edu	37	18	3452223	3452223	+	Frame_Shift_Del	DEL	T	T	-	rs11571510|rs557543525|rs202189171	byFrequency	TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr18:3452223delT	ENST00000330513.5	+	1	549	c.246delT	c.(244-246)cctfs	p.P85fs	TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000400167.2_5'Flank|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000405385.3_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	85					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P83fs*51(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCGCCCCCCCTCCTCCACCGG	0.766													T|T|-|deletion	1280	0.255591	0.3419	0.2349	5008	,	,		10884	0.0109		0.4304	False		,,,				2504	0.226																1	Deletion - Frameshift(1)	large_intestine(1)	18											10.0	11.0	10.0					18																	3452223		2031	3818	5849	3442223	SO:0001589	frameshift_variant	7050			X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.246delT	18.37:g.3452223delT	ENSP00000327959:p.Pro85fs		3442223	A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Frame_Shift_Del	DEL	ENST00000330513.5	37	CCDS11834.1																																																																																				0.766	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695	
ZNF516	9658	hgsc.bcm.edu	37	18	74090958	74090958	+	Frame_Shift_Del	DEL	G	G	-	rs398079646|rs398033573|rs56087742		TCGA-AH-6544-01A-11D-1826-10	TCGA-AH-6544-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	12456af5-23f0-4e3f-a623-ce1866ab375e	739c1712-069d-4442-8eb1-d91149388521	g.chr18:74090958delG	ENST00000443185.2	-	5	3428	c.3111delC	c.(3109-3111)cccfs	p.P1037fs	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1037					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGTGTAGGACGGGGGGGCGCC	0.652													GGGGGG|GGGGGGG|GGGGGG|insertion	5008	1.0	1.0	1.0	5008	,	,		13278	1.0		1.0	False		,,,				2504	1.0																0			18								3517,17		1755,7,5	7.0	7.0	7.0			-0.6	0.0	18	dbSNP_131	33	7701,27		3846,9,9	no	frameshift	ZNF516	NM_014643.3		5601,16,14	A1A1,A1R,RR		0.3494,0.481,0.3907			74090958	11218,44	1730	3829	5559	72219946	SO:0001589	frameshift_variant	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3111delC	18.37:g.74090958delG	ENSP00000394757:p.Pro1037fs		72219946		Frame_Shift_Del	DEL	ENST00000443185.2	37																																																																																					0.652	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643	
