#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	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_TranscriptID	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
LRRN3	54674	hgsc.bcm.edu	37	7	110763829	110763829	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr7:110763829C>G	ENST00000422987.3	+	2	1832	c.1001C>G	c.(1000-1002)cCc>cGc	p.P334R	IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P334R|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.P334R|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	334					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P334R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTCAGACTCCCCAAGCTGGAA	0.438																																					p.P334R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1001G	7						.						102.0	100.0	101.0					7																	110763829		2203	4300	6503	110551065	SO:0001583	missense	54674	exon2			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1001C>G	7.37:g.110763829C>G	ENSP00000412417:p.Pro334Arg		110551065	NM_018334	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320246	0.60634	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.58940	0.3;0.3;0.3	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000010	T	0.69459	0.3113	L	0.39085	1.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65183	-0.6230	10	0.35671	T	0.21	.	20.0656	0.97703	0.0:1.0:0.0:0.0	.	334	Q9H3W5	LRRN3_HUMAN	R	334	ENSP00000312001:P334R;ENSP00000397312:P334R;ENSP00000412417:P334R	ENSP00000312001:P334R	P	+	2	0	LRRN3	110551065	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.747000	0.94245	0.650000	0.86243	CCC		0.438	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334	
CBX3	11335	hgsc.bcm.edu	37	7	26246116	26246116	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr7:26246116G>C	ENST00000337620.4	+	3	581	c.153G>C	c.(151-153)tgG>tgC	p.W51C	CBX3_ENST00000409747.1_Missense_Mutation_p.W51C|CBX3_ENST00000396386.2_Missense_Mutation_p.W51C|CBX3_ENST00000497498.1_3'UTR	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	51	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)	p.W51C(1)		endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TCCTGAAGTGGAAGGGATTTA	0.368																																					p.W51C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G153C	7						.						138.0	143.0	141.0					7																	26246116		2203	4300	6503	26212641	SO:0001583	missense	11335	exon3			U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"""HP1 gamma homolog (Drosophila)"""	604477	"""chromobox homolog 3 (Drosophila HP1 gamma)"""			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.153G>C	7.37:g.26246116G>C	ENSP00000336687:p.Trp51Cys		26212641	NM_007276	Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Missense_Mutation	SNP	ENST00000337620.4	37	CCDS5398.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432242	0.83776	.	.	ENSG00000122565	ENST00000337620;ENST00000396386;ENST00000456948;ENST00000409747	D;D;D;D	0.94232	-3.38;-3.38;-2.23;-2.23	5.75	5.75	0.90469	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98871	0.9618	H	0.99987	5.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98621	1.0667	10	0.87932	D	0	.	20.312	0.98644	0.0:0.0:1.0:0.0	.	51;51	B8ZZ43;Q13185	.;CBX3_HUMAN	C	51	ENSP00000336687:W51C;ENSP00000379670:W51C;ENSP00000408672:W51C;ENSP00000387348:W51C	ENSP00000336687:W51C	W	+	3	0	CBX3	26212641	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.843000	0.99491	2.880000	0.98712	0.655000	0.94253	TGG		0.368	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214117.1	NM_007276	
SPDYE1	285955	hgsc.bcm.edu	37	7	44042292	44042292	+	Silent	SNP	G	G	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr7:44042292G>A	ENST00000258704.3	+	2	500	c.363G>A	c.(361-363)gtG>gtA	p.V121V	AC004951.6_ENST00000447643.1_lincRNA|RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	121								p.V121V(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						CACGGAAGGTGCTCGCCCCTG	0.612																																					p.V121V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G363A	7						.						47.0	39.0	42.0					7																	44042292		1380	2329	3709	44008817	SO:0001819	synonymous_variant	285955	exon2			AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.363G>A	7.37:g.44042292G>A			44008817	NM_175064	Q9NTH5	Silent	SNP	ENST00000258704.3	37	CCDS5475.1																																																																																				0.612	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064	
TMEM130	222865	hgsc.bcm.edu	37	7	98445721	98445721	+	Silent	SNP	C	C	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr7:98445721C>A	ENST00000416379.2	-	8	1270	c.1266G>T	c.(1264-1266)ctG>ctT	p.L422L	TMEM130_ENST00000450876.1_Silent_p.L326L|TMEM130_ENST00000339375.4_Silent_p.L410L|TMEM130_ENST00000345589.4_Silent_p.L308L|TMEM130_ENST00000474857.1_5'Flank|TMEM130_ENST00000546258.1_Silent_p.L391L			Q8N3G9	TM130_HUMAN	transmembrane protein 130	422						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L410L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGGGCGGGAGCAGCCCGTGGT	0.557																																					p.L308L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G924T	7						.						56.0	55.0	55.0					7																	98445721		2203	4300	6503	98283657	SO:0001819	synonymous_variant	222865	exon7				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.1266G>T	7.37:g.98445721C>A			98283657	NM_001134451	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	CCDS47650.1																																																																																				0.557	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913	
CHRM2	1129	hgsc.bcm.edu	37	7	136699684	136699684	+	Silent	SNP	G	G	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr7:136699684G>T	ENST00000445907.2	+	3	600	c.72G>T	c.(70-72)gtG>gtT	p.V24V	CHRM2_ENST00000402486.3_Silent_p.V24V|CHRM2_ENST00000453373.1_Silent_p.V24V|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Silent_p.V24V|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.V24V|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Silent_p.V24V|hsa-mir-490_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	24					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.V24V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TTGAAGTGGTGTTTATTGTCC	0.438																																					p.V24V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G72T	7						.						121.0	115.0	117.0					7																	136699684		2203	4300	6503	136350224	SO:0001819	synonymous_variant	1129	exon4				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.72G>T	7.37:g.136699684G>T			136350224	NM_000739	Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	CCDS5843.1																																																																																				0.438	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
TMC2	117532	hgsc.bcm.edu	37	20	2582875	2582875	+	Silent	SNP	C	C	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr20:2582875C>A	ENST00000358864.1	+	11	1356	c.1341C>A	c.(1339-1341)ctC>ctA	p.L447L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	447					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.L447L(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTGGGTACCTCATTTACTTTG	0.398																																					p.L447L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1341A	20						.						183.0	158.0	166.0					20																	2582875		2203	4300	6503	2530875	SO:0001819	synonymous_variant	117532	exon11			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1341C>A	20.37:g.2582875C>A			2530875	NM_080751	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	CCDS13029.2																																																																																				0.398	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2		
RTEL1	51750	hgsc.bcm.edu	37	20	62298882	62298882	+	Silent	SNP	G	G	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr20:62298882G>A	ENST00000360203.5	+	8	1000	c.675G>A	c.(673-675)ccG>ccA	p.P225P	RTEL1_ENST00000318100.4_Silent_p.P225P|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.P225P|RTEL1_ENST00000508582.2_Silent_p.P249P|RTEL1_ENST00000370018.3_Silent_p.P225P					regulator of telomere elongation helicase 1									p.P225P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TATTCATGCCGTACAATTACT	0.572																																					p.P225P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G675A	20						.						246.0	210.0	222.0					20																	62298882		2203	4300	6503	61769326	SO:0001819	synonymous_variant	51750	exon8			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.675G>A	20.37:g.62298882G>A			61769326	NM_016434		Silent	SNP	ENST00000360203.5	37																																																																																					0.572	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957	
WBP2NL	164684	hgsc.bcm.edu	37	22	42422878	42422878	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr22:42422878T>C	ENST00000328823.9	+	6	654	c.623T>C	c.(622-624)gTg>gCg	p.V208A	WBP2NL_ENST00000543212.1_Missense_Mutation_p.V134A	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	208	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)	p.V208A(1)		breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GGCCCGCCTGTGGGATACAGA	0.612																																					p.V208A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T623C	22						.						115.0	131.0	126.0					22																	42422878		2203	4300	6503	40752824	SO:0001583	missense	164684	exon6			BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.623T>C	22.37:g.42422878T>C	ENSP00000332983:p.Val208Ala		40752824	NM_152613	A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	T	3.746	-0.052576	0.07362	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.27402	1.67;1.67	3.38	-6.75	0.01738	WW-domain-binding protein (1);	.	.	.	.	T	0.09468	0.0233	N	0.04090	-0.28	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.19877	-1.0292	9	0.11182	T	0.66	.	4.6842	0.12750	0.1837:0.5948:0.0923:0.1292	.	208	Q6ICG8	WBP2L_HUMAN	A	208;134	ENSP00000332983:V208A;ENSP00000442447:V134A	ENSP00000332983:V208A	V	+	2	0	WBP2NL	40752824	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.941000	0.00683	-3.007000	0.00274	-0.701000	0.03672	GTG		0.612	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613	
ZNF540	163255	hgsc.bcm.edu	37	19	38103365	38103365	+	Missense_Mutation	SNP	G	G	A	rs200091894		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr19:38103365G>A	ENST00000592533.1	+	5	1516	c.1184G>A	c.(1183-1185)cGt>cAt	p.R395H	ZNF540_ENST00000343599.5_Missense_Mutation_p.R395H|ZNF540_ENST00000589117.1_Missense_Mutation_p.R363H|ZNF540_ENST00000316433.4_Missense_Mutation_p.R395H	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	395					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.R395H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTAATGTGCGTGGACAGCTT	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		21533	0.001		0.0	False		,,,				2504	0.0				p.R395H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1184A	19						.						116.0	111.0	113.0					19																	38103365		2203	4300	6503	42795205	SO:0001583	missense	163255	exon5			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1184G>A	19.37:g.38103365G>A	ENSP00000466274:p.Arg395His		42795205	NM_152606	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	CCDS12506.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.32	1.604075	0.28534	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.08370	3.1	2.26	-0.13	0.13498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05181	0.0138	L	0.35593	1.075	0.09310	N	1	B;B	0.22983	0.078;0.047	B;B	0.13407	0.009;0.004	T	0.46456	-0.9190	9	0.13853	T	0.58	.	5.0857	0.14680	0.4857:0.0:0.5143:0.0	.	363;395	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	H	395;363	ENSP00000324598:R395H	ENSP00000324598:R395H	R	+	2	0	ZNF540	42795205	0.000000	0.05858	0.000000	0.03702	0.683000	0.39861	0.068000	0.14531	-0.098000	0.12285	0.305000	0.20034	CGT		0.378	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606	
TTYH1	57348	hgsc.bcm.edu	37	19	54941756	54941756	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr19:54941756C>A	ENST00000376530.3	+	8	1015	c.912C>A	c.(910-912)aaC>aaA	p.N304K	TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000376531.3_Missense_Mutation_p.N304K|TTYH1_ENST00000391739.3_Intron|AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000301194.4_Missense_Mutation_p.N304K	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	304					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)	p.N304K(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TCCTCTGCAACCGGGCCGTCT	0.652																																					p.N304K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C912A	19						.						143.0	153.0	150.0					19																	54941756		2203	4300	6503	59633568	SO:0001583	missense	57348	exon8			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.912C>A	19.37:g.54941756C>A	ENSP00000365713:p.Asn304Lys		59633568	NM_001005367	B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280704	0.59758	.	.	ENSG00000167614	ENST00000301194;ENST00000376530;ENST00000376531	T;T;T	0.11604	2.76;2.76;2.76	4.43	3.39	0.38822	.	0.192344	0.45867	D	0.000340	T	0.18882	0.0453	M	0.68952	2.095	0.80722	D	1	P;D;D;P	0.61697	0.95;0.99;0.99;0.896	P;P;P;B	0.52909	0.713;0.713;0.628;0.334	T	0.01146	-1.1437	10	0.40728	T	0.16	-9.9911	8.4332	0.32771	0.0:0.8893:0.0:0.1107	.	216;304;304;304	Q9H313-5;Q9H313-2;Q9H313-3;Q9H313	.;.;.;TTYH1_HUMAN	K	304	ENSP00000301194:N304K;ENSP00000365713:N304K;ENSP00000365714:N304K	ENSP00000301194:N304K	N	+	3	2	TTYH1	59633568	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.756000	0.38390	0.981000	0.38548	0.561000	0.74099	AAC		0.652	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1		
NLRP8	126205	hgsc.bcm.edu	37	19	56473561	56473561	+	Missense_Mutation	SNP	C	C	T	rs147934431	byFrequency	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr19:56473561C>T	ENST00000291971.3	+	4	2242	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	NLRP8_ENST00000590542.1_Missense_Mutation_p.A724V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	724					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.A724V(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAGGCTCTCGCGGCCGCACTG	0.483													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20031	0.0		0.0	False		,,,				2504	0.001				p.A724V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2171T	19						.						123.0	105.0	111.0					19																	56473561		2203	4300	6503	61165373	SO:0001583	missense	126205	exon4			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2171C>T	19.37:g.56473561C>T	ENSP00000291971:p.Ala724Val		61165373	NM_176811	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	2.342	-0.350932	0.05173	.	.	ENSG00000179709	ENST00000291971	D	0.87650	-2.28	1.93	-0.552	0.11818	.	.	.	.	.	T	0.78591	0.4307	L	0.36672	1.1	0.09310	N	1	P;B	0.47106	0.89;0.049	B;B	0.43274	0.414;0.03	T	0.67593	-0.5631	9	0.39692	T	0.17	.	4.0585	0.09827	0.2704:0.4646:0.2651:0.0	.	724;724	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	724	ENSP00000291971:A724V	ENSP00000291971:A724V	A	+	2	0	NLRP8	61165373	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.206000	0.17375	-0.051000	0.13334	0.508000	0.49915	GCG		0.483	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
SLC6A17	388662	hgsc.bcm.edu	37	1	110740094	110740094	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr1:110740094G>A	ENST00000331565.4	+	11	2173	c.1688G>A	c.(1687-1689)cGc>cAc	p.R563H		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	563					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.R563H(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGGGCTTCCGCCCCTACCGC	0.597											OREG0013652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R563H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1688A	1						.						92.0	78.0	83.0					1																	110740094		2203	4299	6502	110541617	SO:0001583	missense	388662	exon11				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1688G>A	1.37:g.110740094G>A	ENSP00000330199:p.Arg563His	1429	110541617	NM_001010898	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506460	0.85282	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.76709	-1.04	5.03	0.392	0.16288	.	0.674841	0.14226	N	0.333085	T	0.81950	0.4931	M	0.90483	3.12	0.37863	D	0.929781	D	0.67145	0.996	P	0.60173	0.87	T	0.80919	-0.1167	10	0.72032	D	0.01	.	8.079	0.30733	0.4243:0.0:0.5757:0.0	.	563	Q9H1V8	S6A17_HUMAN	H	563	ENSP00000330199:R563H	ENSP00000330199:R563H	R	+	2	0	SLC6A17	110541617	0.706000	0.27856	0.987000	0.45799	0.994000	0.84299	1.050000	0.30404	0.020000	0.15106	0.557000	0.71058	CGC		0.597	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280	
RSRP1	57035	hgsc.bcm.edu	37	1	25571716	25571716	+	Silent	SNP	A	A	C			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr1:25571716A>C	ENST00000243189.7	-	3	873	c.597T>G	c.(595-597)gcT>gcG	p.A199A	C1orf63_ENST00000417642.2_Silent_p.A192A|RP3-465N24.6_ENST00000607698.1_lincRNA|C1orf63_ENST00000431849.2_Silent_p.A199A	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		199								p.A199A(1)		breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCTGAGACTAGCTGGCAAGT	0.403																																					p.A199A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T597G	1						.						162.0	146.0	152.0					1																	25571716		2203	4300	6503	25444303	SO:0001819	synonymous_variant	57035	exon3																														ENST00000243189.7:c.597T>G	1.37:g.25571716A>C			25444303	NM_020317	A8K917|Q49AA4|Q5TH71|Q9GZP6	Silent	SNP	ENST00000243189.7	37	CCDS260.1																																																																																				0.403	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2		
CATSPER4	378807	hgsc.bcm.edu	37	1	26527378	26527378	+	Missense_Mutation	SNP	G	G	A	rs551550512		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr1:26527378G>A	ENST00000456354.2	+	8	1112	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	349					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.A349T(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTGTGGTCGCCCGCTCGGA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		16263	0.0		0.0	False		,,,				2504	0.001				p.A349T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1045A	1						.						56.0	58.0	57.0					1																	26527378		2203	4300	6503	26399965	SO:0001583	missense	378807	exon8			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1045G>A	1.37:g.26527378G>A	ENSP00000390423:p.Ala349Thr		26399965	NM_198137	A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.006003	0.35415	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97598	-4.44;-4.45	3.83	1.76	0.24704	.	0.720448	0.11874	N	0.521186	D	0.91898	0.7435	L	0.31926	0.97	0.09310	N	1	B;B	0.22983	0.047;0.078	B;B	0.14023	0.007;0.01	T	0.82973	-0.0191	10	0.23302	T	0.38	-12.5042	4.2592	0.10733	0.1211:0.0:0.6553:0.2235	.	349;333	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	T	349	ENSP00000341006:A349T;ENSP00000390423:A349T	ENSP00000341006:A349T	A	+	1	0	CATSPER4	26399965	0.763000	0.28462	0.120000	0.21714	0.112000	0.19704	1.696000	0.37773	0.962000	0.38057	-0.657000	0.03884	GCC		0.597	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137	
CYP2J2	1573	hgsc.bcm.edu	37	1	60377922	60377922	+	Silent	SNP	T	T	C	rs111798172		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr1:60377922T>C	ENST00000371204.3	-	3	478	c.435A>G	c.(433-435)ctA>ctG	p.L145L	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	145					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)	p.L145L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CAAAGTTCCTTAGTGCTGTCA	0.448																																					p.L145L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A435G	1						.						203.0	168.0	180.0					1																	60377922		2203	4300	6503	60150510	SO:0001819	synonymous_variant	1573	exon3			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.435A>G	1.37:g.60377922T>C			60150510	NM_000775	B2RD33|Q8TF13	Silent	SNP	ENST00000371204.3	37	CCDS613.1																																																																																				0.448	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775	
LPHN2	23266	hgsc.bcm.edu	37	1	82408914	82408914	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr1:82408914T>C	ENST00000370728.1	+	8	1304	c.659T>C	c.(658-660)tTc>tCc	p.F220S	LPHN2_ENST00000370725.1_Missense_Mutation_p.F220S|LPHN2_ENST00000335786.5_Missense_Mutation_p.F220S|LPHN2_ENST00000370723.1_Missense_Mutation_p.F220S|LPHN2_ENST00000370727.1_Missense_Mutation_p.F220S|LPHN2_ENST00000319517.6_Missense_Mutation_p.F220S|LPHN2_ENST00000370713.1_Missense_Mutation_p.F220S|LPHN2_ENST00000370715.1_Missense_Mutation_p.F220S|LPHN2_ENST00000370730.1_Missense_Mutation_p.F220S|LPHN2_ENST00000271029.4_Missense_Mutation_p.F220S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.F220S|LPHN2_ENST00000370721.1_Missense_Mutation_p.F224S|LPHN2_ENST00000370717.2_Missense_Mutation_p.F220S|LPHN2_ENST00000394879.1_Missense_Mutation_p.F220S			O95490	LPHN2_HUMAN	latrophilin 2	220	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.F220S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGTGCTGTCTTCTTTAACAAA	0.373																																					p.F220S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T659C	1						.						127.0	125.0	126.0					1																	82408914		2203	4300	6503	82181502	SO:0001583	missense	23266	exon5			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.659T>C	1.37:g.82408914T>C	ENSP00000359763:p.Phe220Ser		82181502	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.66|18.66	3.672066|3.672066	0.67928|0.67928	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.90133|.	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.053768|.	0.85682|.	D|.	0.000000|.	T|T	0.66548|0.66548	0.2800|0.2800	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	B;B;B|.	0.32620|.	0.378;0.204;0.378|.	B;B;B|.	0.36808|.	0.233;0.076;0.233|.	T|T	0.66677|0.66677	-0.5863|-0.5863	10|5	0.59425|.	D|.	0.04|.	.|.	16.3322|16.3322	0.83039|0.83039	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	220;220;220|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	S|P	224;220;220;220;220;220;220;220;220;220;220;220;220;220|88	ENSP00000359756:F224S;ENSP00000359763:F220S;ENSP00000359765:F220S;ENSP00000359762:F220S;ENSP00000359760:F220S;ENSP00000359758:F220S;ENSP00000353006:F220S;ENSP00000359750:F220S;ENSP00000359748:F220S;ENSP00000322270:F220S;ENSP00000359752:F220S;ENSP00000378344:F220S;ENSP00000271029:F220S;ENSP00000337306:F220S|.	ENSP00000271029:F220S|.	F|S	+|+	2|1	0|0	LPHN2|LPHN2	82181502|82181502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	8.040000|8.040000	0.89188|0.89188	2.251000|2.251000	0.74343|0.74343	0.528000|0.528000	0.53228|0.53228	TTC|TCT		0.373	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
VTCN1	79679	hgsc.bcm.edu	37	1	117695864	117695864	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr1:117695864G>T	ENST00000369458.3	-	4	651	c.573C>A	c.(571-573)ttC>ttA	p.F191L	VTCN1_ENST00000539893.1_Missense_Mutation_p.F96L|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000328189.3_Missense_Mutation_p.F75L|VTCN1_ENST00000359008.4_Missense_Mutation_p.F194L	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1									p.F191L(1)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AGACTTCCGAGAAGTTGGCTC	0.517																																					p.F191L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C573A	1						.						108.0	102.0	104.0					1																	117695864		2203	4300	6503	117497387	SO:0001583	missense	79679	exon4			BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.573C>A	1.37:g.117695864G>T	ENSP00000358470:p.Phe191Leu		117497387	NM_024626		Missense_Mutation	SNP	ENST00000369458.3	37	CCDS894.1	.	.	.	.	.	.	.	.	.	.	G	4.078	0.012318	0.07912	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000328189;ENST00000539893	T;T;T;T	0.18174	3.74;3.73;2.23;4.12	5.34	2.48	0.30137	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.090168	0.49305	D	0.000159	T	0.01254	0.0041	N	0.01874	-0.695	0.30785	N	0.741619	B;B	0.23128	0.08;0.055	B;B	0.22386	0.039;0.018	T	0.45600	-0.9250	10	0.08837	T	0.75	-18.4057	4.6641	0.12657	0.2591:0.1737:0.5672:0.0	.	75;191	Q7Z7D3-2;Q7Z7D3	.;VTCN1_HUMAN	L	191;194;75;96	ENSP00000358470:F191L;ENSP00000351899:F194L;ENSP00000328168:F75L;ENSP00000444724:F96L	ENSP00000328168:F75L	F	-	3	2	VTCN1	117497387	0.991000	0.36638	1.000000	0.80357	0.859000	0.49053	0.072000	0.14617	0.948000	0.37687	-0.128000	0.14901	TTC		0.517	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626	
CLPB	81570	hgsc.bcm.edu	37	11	72004494	72004494	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr11:72004494C>G	ENST00000294053.3	-	17	2214	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q	CLPB_ENST00000538039.1_Missense_Mutation_p.E651Q|CLPB_ENST00000538021.1_Missense_Mutation_p.E289Q|CLPB_ENST00000543042.1_Missense_Mutation_p.E480Q|CLPB_ENST00000437826.2_Missense_Mutation_p.E636Q|CLPB_ENST00000340729.5_Missense_Mutation_p.E622Q	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	681					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.E681Q(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TCGATGATCTCCAGACGCAGC	0.587																																					p.E681Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2041C	11						.						126.0	99.0	108.0					11																	72004494		2200	4293	6493	71682142	SO:0001583	missense	81570	exon17			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.2041G>C	11.37:g.72004494C>G	ENSP00000294053:p.Glu681Gln		71682142	NM_030813	B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.498817	0.44455	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000538021	T;T;T;T;T;T	0.65364	1.92;1.13;2.1;-0.15;2.38;0.44	5.86	5.86	0.93980	.	0.053279	0.64402	D	0.000001	T	0.56321	0.1977	L	0.27053	0.805	0.50171	D	0.999859	P;P;P;P;P;B	0.39352	0.669;0.48;0.533;0.669;0.539;0.075	B;B;B;B;B;B	0.41440	0.357;0.12;0.083;0.122;0.085;0.01	T	0.56661	-0.7942	10	0.45353	T	0.12	-29.1719	18.7645	0.91866	0.0:1.0:0.0:0.0	.	480;622;636;651;681;289	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078;Q7Z777	.;.;.;.;CLPB_HUMAN;.	Q	681;651;686;622;636;480;289	ENSP00000294053:E681Q;ENSP00000441518:E651Q;ENSP00000443822:E686Q;ENSP00000340385:E622Q;ENSP00000407296:E636Q;ENSP00000439746:E480Q	ENSP00000294053:E681Q	E	-	1	0	CLPB	71682142	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	5.891000	0.69782	2.781000	0.95711	0.650000	0.86243	GAG		0.587	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813	
DPAGT1	1798	hgsc.bcm.edu	37	11	118971067	118971067	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr11:118971067G>C	ENST00000409993.2	-	6	2099	c.548C>G	c.(547-549)gCc>gGc	p.A183G	DPAGT1_ENST00000354202.4_Missense_Mutation_p.A183G|DPAGT1_ENST00000445653.1_5'Flank|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A76G			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	183					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)	p.A183G(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GATATTGATGGCATTGGTACA	0.502											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A183G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C548G	11						.						98.0	95.0	96.0					11																	118971067		2200	4295	6495	118476277	SO:0001583	missense	1798	exon4			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.548C>G	11.37:g.118971067G>C	ENSP00000386597:p.Ala183Gly	1492	118476277	NM_001382	O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097188	0.94197	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.94966	-3.57;-3.57;-3.57	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.97607	0.9216	M	0.90145	3.09	0.80722	D	1	P;P	0.50272	0.933;0.529	P;P	0.62014	0.897;0.617	D	0.97789	1.0237	10	0.56958	D	0.05	-15.8663	18.6977	0.91607	0.0:0.0:1.0:0.0	.	76;183	E7EW40;Q9H3H5	.;GPT_HUMAN	G	183;183;76	ENSP00000386597:A183G;ENSP00000346142:A183G;ENSP00000404036:A76G	ENSP00000346142:A183G	A	-	2	0	DPAGT1	118476277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.652000	0.90054	0.655000	0.94253	GCC		0.502	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382	
LHFPL5	222662	hgsc.bcm.edu	37	6	35773558	35773558	+	Silent	SNP	C	C	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr6:35773558C>T	ENST00000373853.1	+	1	489	c.111C>T	c.(109-111)tcC>tcT	p.S37S	LHFPL5_ENST00000360215.1_Silent_p.S37S			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	37					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)		p.S37S(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTGCTTCTCCGTACTGGTCA	0.602																																					p.S37S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C111T	6						.						232.0	200.0	211.0					6																	35773558		2203	4300	6503	35881536	SO:0001819	synonymous_variant	222662	exon1			BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.111C>T	6.37:g.35773558C>T			35881536	NM_182548	B3KX66	Silent	SNP	ENST00000373853.1	37	CCDS4812.1																																																																																				0.602	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548	
TREML1	340205	hgsc.bcm.edu	37	6	41118572	41118572	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr6:41118572C>A	ENST00000426005.2	-	4	596	c.553G>T	c.(553-555)Gcc>Tcc	p.A185S	TREML1_ENST00000437044.2_Missense_Mutation_p.A74S|TREML1_ENST00000373127.4_Missense_Mutation_p.A185S	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	185					calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)		p.A185S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTCCTCTTGGCCATCACAGCA	0.557																																					p.A185S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G553T	6						.						130.0	109.0	116.0					6																	41118572		2203	4300	6503	41226550	SO:0001583	missense	340205	exon4			AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"""Immunoglobulin superfamily / V-set domain containing"""	20434	protein-coding gene	gene with protein product	"""TREM-like transcript 1"""	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.553G>T	6.37:g.41118572C>A	ENSP00000402855:p.Ala185Ser		41226550	NM_178174	Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	ENST00000426005.2	37	CCDS4851.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157949	0.57368	.	.	ENSG00000161911	ENST00000373127;ENST00000437044;ENST00000426005	T;T;T	0.56776	1.43;0.44;1.43	5.38	2.39	0.29439	.	0.233852	0.30410	N	0.009697	T	0.34308	0.0893	L	0.49350	1.555	0.32039	N	0.598471	P;D;P	0.62365	0.738;0.991;0.496	B;P;B	0.53689	0.283;0.732;0.184	T	0.12293	-1.0553	10	0.23891	T	0.37	.	4.6754	0.12710	0.1731:0.6404:0.0:0.1865	.	74;185;185	Q86YW5-3;Q86YW5;Q86YW5-2	.;TRML1_HUMAN;.	S	185;74;185	ENSP00000362219:A185S;ENSP00000400405:A74S;ENSP00000402855:A185S	ENSP00000362219:A185S	A	-	1	0	TREML1	41226550	0.654000	0.27367	1.000000	0.80357	0.822000	0.46500	0.184000	0.16939	1.270000	0.44297	0.655000	0.94253	GCC		0.557	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174	
ICK	22858	hgsc.bcm.edu	37	6	52905984	52905984	+	Silent	SNP	G	G	A	rs373305658		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr6:52905984G>A	ENST00000350082.5	-	2	397	c.51C>T	c.(49-51)tcC>tcT	p.S17S	ICK_ENST00000356971.3_Silent_p.S17S	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	17	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S17S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CCAGCAGGACGGAACCGTAGG	0.493																																					p.S17S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C51T	6						.	G	,	0,4406		0,0,2203	157.0	147.0	150.0		51,51	1.0	1.0	6		150	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ICK	NM_014920.3,NM_016513.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	17/633,17/633	52905984	1,13005	2203	4300	6503	53013943	SO:0001819	synonymous_variant	22858	exon3			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.51C>T	6.37:g.52905984G>A			53013943	NM_016513	A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Silent	SNP	ENST00000350082.5	37	CCDS4949.1																																																																																				0.493	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	
MPP2	4355	hgsc.bcm.edu	37	17	41981824	41981824	+	Missense_Mutation	SNP	G	G	A	rs146765164	byFrequency	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr17:41981824G>A	ENST00000461854.1	-	2	90	c.5C>T	c.(4-6)cCg>cTg	p.P2L	MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.P47L|MPP2_ENST00000536246.1_5'Flank|MPP2_ENST00000269095.4_Missense_Mutation_p.P2L|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000523501.1_Intron			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	2					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.P2L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GGCGGCAACCGGCATGGTGAA	0.557																																					p.P2L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5T	17						.						114.0	97.0	102.0					17																	41981824		2203	4300	6503	39337350	SO:0001583	missense	4355	exon2				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.5C>T	17.37:g.41981824G>A	ENSP00000428286:p.Pro2Leu		39337350	NM_005374	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37		.	.	.	.	.	.	.	.	.	.	G	16.22	3.062694	0.55432	.	.	ENSG00000108852	ENST00000269095;ENST00000461854;ENST00000518766;ENST00000520406;ENST00000523934;ENST00000520241;ENST00000521178;ENST00000522172;ENST00000518478	T;T;T;T;T;T;T	0.52057	3.09;2.67;3.05;0.72;0.72;0.68;0.71	4.9	4.9	0.64082	.	.	.	.	.	T	0.31979	0.0814	N	0.19112	0.55	0.80722	D	1	B	0.30211	0.273	B	0.14578	0.011	T	0.25082	-1.0142	9	0.87932	D	0	.	13.438	0.61094	0.0:0.0:1.0:0.0	.	47	E7EV80	.	L	2;2;47;2;2;2;2;2;2	ENSP00000269095:P2L;ENSP00000428286:P2L;ENSP00000428182:P47L;ENSP00000428354:P2L;ENSP00000430797:P2L;ENSP00000428938:P2L;ENSP00000430443:P2L	ENSP00000269095:P2L	P	-	2	0	MPP2	39337350	0.999000	0.42202	0.987000	0.45799	0.901000	0.52897	4.597000	0.61062	2.539000	0.85634	0.561000	0.74099	CCG		0.557	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374	
KIF2B	84643	hgsc.bcm.edu	37	17	51900564	51900564	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr17:51900564C>T	ENST00000268919.4	+	1	326	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	57					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T57M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATTGGGTCACGGTAGAGTGG	0.532																																					p.T57M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C170T	17						.						159.0	135.0	143.0					17																	51900564		2203	4300	6503	49255563	SO:0001583	missense	84643	exon1			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.170C>T	17.37:g.51900564C>T	ENSP00000268919:p.Thr57Met		49255563	NM_032559	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092687	0.36952	.	.	ENSG00000141200	ENST00000268919	T	0.77489	-1.1	4.96	2.97	0.34412	.	0.134922	0.33161	N	0.005204	D	0.83147	0.5191	L	0.59436	1.845	0.29612	N	0.846835	D	0.89917	1.0	D	0.76071	0.987	T	0.77640	-0.2512	10	0.66056	D	0.02	.	8.8332	0.35096	0.0:0.8242:0.0:0.1758	.	57	Q8N4N8	KIF2B_HUMAN	M	57	ENSP00000268919:T57M	ENSP00000268919:T57M	T	+	2	0	KIF2B	49255563	0.993000	0.37304	0.906000	0.35671	0.964000	0.63967	2.880000	0.48530	0.781000	0.33589	-0.137000	0.14449	ACG		0.532	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
TP53	7157	hgsc.bcm.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)																											p.R175H	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,lung,NS,Substitution - Missense,0	.	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	c.G524A	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578	.						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	SO:0001583	missense	7157	exon5	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	NM_001126114	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	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	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);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ABCA10	10349	hgsc.bcm.edu	37	17	67215769	67215769	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr17:67215769G>T	ENST00000269081.4	-	7	1356	c.447C>A	c.(445-447)taC>taA	p.Y149*	ABCA10_ENST00000416101.2_Nonsense_Mutation_p.Y149*|ABCA10_ENST00000432313.2_Nonsense_Mutation_p.Y149*	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	149					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Y149*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGATGCAAAGTATATAAAAG	0.333																																					p.Y149X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C447A	17						.						57.0	62.0	61.0					17																	67215769		2203	4294	6497	64727364	SO:0001587	stop_gained	10349	exon7			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.447C>A	17.37:g.67215769G>T	ENSP00000269081:p.Tyr149*		64727364	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Nonsense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	35	5.480397	0.96307	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	.	.	.	3.66	-7.33	0.01431	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6486	0.56748	0.2104:0.0:0.6802:0.1094	.	.	.	.	X	149	.	ENSP00000269081:Y149X	Y	-	3	2	ABCA10	64727364	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-2.285000	0.01153	-2.742000	0.00379	-0.942000	0.02676	TAC		0.333	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
USP25	29761	hgsc.bcm.edu	37	21	17198645	17198645	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr21:17198645C>T	ENST00000285679.6	+	13	1796	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	USP25_ENST00000285681.2_Missense_Mutation_p.S476F|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.S476F	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	476	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.S476F(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GACGCTAGTTCCCCACCTAGT	0.413																																					p.S476F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1427T	21						.						209.0	172.0	185.0					21																	17198645		2203	4300	6503	16120516	SO:0001583	missense	29761	exon13			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1427C>T	21.37:g.17198645C>T	ENSP00000285679:p.Ser476Phe		16120516	NM_013396	C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146650	0.57151	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.24723	1.84;1.85;1.86	5.71	5.71	0.89125	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.095808	0.64402	D	0.000001	T	0.31606	0.0802	N	0.22421	0.69	0.53688	D	0.999977	P;P;P	0.50819	0.899;0.828;0.939	B;P;P	0.52267	0.435;0.652;0.694	T	0.01252	-1.1405	10	0.44086	T	0.13	.	20.2344	0.98354	0.0:1.0:0.0:0.0	.	476;476;476	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	F	476	ENSP00000285681:S476F;ENSP00000285679:S476F;ENSP00000383044:S476F	ENSP00000285679:S476F	S	+	2	0	USP25	16120516	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	7.245000	0.78237	2.854000	0.98071	0.655000	0.94253	TCC		0.413	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
CHODL	140578	hgsc.bcm.edu	37	21	19629035	19629035	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr21:19629035G>T	ENST00000299295.2	+	2	680	c.289G>T	c.(289-291)Ggt>Tgt	p.G97C	CHODL_ENST00000400127.1_Missense_Mutation_p.G56C|CHODL_ENST00000400128.1_Missense_Mutation_p.G56C|CHODL_ENST00000400131.1_Missense_Mutation_p.G56C|CHODL_ENST00000400135.1_Missense_Mutation_p.G56C|CHODL_ENST00000543733.1_Missense_Mutation_p.G78C|CHODL_ENST00000338326.3_Missense_Mutation_p.G56C	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	97	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)	p.G97C(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GATTTCTGATGGTGATTTCTG	0.498																																					p.G97C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G289T	21						.						109.0	118.0	115.0					21																	19629035		2203	4300	6503	18550906	SO:0001583	missense	140578	exon2			AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.289G>T	21.37:g.19629035G>T	ENSP00000299295:p.Gly97Cys		18550906	NM_024944	B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	ENST00000299295.2	37	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286821	0.80803	.	.	ENSG00000154645	ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16	5.82	4.95	0.65309	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.044128	0.85682	D	0.000000	T	0.53594	0.1806	M	0.90814	3.15	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.977;1.0	T	0.63928	-0.6526	9	.	.	.	-15.5347	14.05	0.64730	0.072:0.0:0.928:0.0	.	97;78;56	Q9H9P2;B4DJB8;Q9H9P2-3	CHODL_HUMAN;.;.	C	56;56;56;56;97;56;78	ENSP00000382993:G56C;ENSP00000382996:G56C;ENSP00000383001:G56C;ENSP00000382992:G56C;ENSP00000299295:G97C;ENSP00000339975:G56C;ENSP00000443566:G78C	.	G	+	1	0	CHODL	18550906	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.654000	0.83653	1.478000	0.48253	0.557000	0.71058	GGT		0.498	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944	
TGIF1	7050	hgsc.bcm.edu	37	18	3457387	3457387	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr18:3457387C>G	ENST00000330513.5	+	3	958	c.655C>G	c.(655-657)Cgc>Ggc	p.R219G	TGIF1_ENST00000400167.2_Missense_Mutation_p.R70G|TGIF1_ENST00000401449.1_Missense_Mutation_p.R70G|TGIF1_ENST00000551541.1_Missense_Mutation_p.R70G|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000405385.3_Missense_Mutation_p.R70G|TGIF1_ENST00000407501.2_Missense_Mutation_p.R90G|TGIF1_ENST00000472042.1_Missense_Mutation_p.R70G|TGIF1_ENST00000548489.2_Missense_Mutation_p.R104G|TGIF1_ENST00000343820.5_Missense_Mutation_p.R90G|TGIF1_ENST00000345133.5_Missense_Mutation_p.R70G	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	219					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.R219G(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)				CATCAACGCCCGCCGCAGGCT	0.488																																					p.R90G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C268G	18	GRCh37	CM020381	TGIF1	M		.						46.0	49.0	48.0					18																	3457387		2203	4300	6503	3447387	SO:0001583	missense	7050	exon3			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.655C>G	18.37:g.3457387C>G	ENSP00000327959:p.Arg219Gly		3447387	NM_003244	A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	ENST00000330513.5	37	CCDS11834.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488574	0.64074	.	.	ENSG00000177426	ENST00000552383;ENST00000401449;ENST00000550958;ENST00000548489;ENST00000549780;ENST00000549253;ENST00000405385;ENST00000343820;ENST00000407501;ENST00000546979;ENST00000551541;ENST00000345133;ENST00000330513;ENST00000549546;ENST00000549468;ENST00000400167;ENST00000551333;ENST00000472042	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99841	-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09	5.77	4.89	0.63831	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.102168	0.64402	D	0.000002	D	0.99917	0.9961	H	0.99609	4.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95724	0.8769	10	0.87932	D	0	-26.357	16.5235	0.84322	0.1319:0.8681:0.0:0.0	.	219;90;104	Q15583;Q15583-2;F8VZB6	TGIF1_HUMAN;.;.	G	70;70;70;104;70;93;70;90;90;90;70;70;219;70;70;70;70;70	ENSP00000449287:R70G;ENSP00000385206:R70G;ENSP00000449531:R70G;ENSP00000447747:R104G;ENSP00000448121:R70G;ENSP00000384970:R70G;ENSP00000339631:R90G;ENSP00000384133:R90G;ENSP00000448934:R90G;ENSP00000450025:R70G;ENSP00000343969:R70G;ENSP00000327959:R219G;ENSP00000449580:R70G;ENSP00000449722:R70G;ENSP00000383031:R70G;ENSP00000446838:R70G;ENSP00000449501:R70G	ENSP00000327959:R219G	R	+	1	0	TGIF1	3447387	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.445000	0.80570	1.557000	0.49525	-0.182000	0.12963	CGC		0.488	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695	
FHOD3	80206	hgsc.bcm.edu	37	18	34298151	34298151	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr18:34298151G>A	ENST00000359247.4	+	15	2314	c.2314G>A	c.(2314-2316)Gtc>Atc	p.V772I	FHOD3_ENST00000445677.1_Missense_Mutation_p.V751I|FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Missense_Mutation_p.V964I|FHOD3_ENST00000257209.4_Missense_Mutation_p.V789I	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	772					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.V789I(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAATGACAAGGTCCCAGAAAC	0.522																																					p.V789I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2365A	18						.						85.0	89.0	88.0					18																	34298151		2203	4300	6503	32552149	SO:0001583	missense	80206	exon16			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2314G>A	18.37:g.34298151G>A	ENSP00000352186:p.Val772Ile		32552149	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	G	6.538	0.467587	0.12402	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.30714	1.52;1.52;1.53	4.63	4.63	0.57726	.	0.566002	0.17821	N	0.160845	T	0.25494	0.0620	L	0.44542	1.39	0.09310	N	1	B;B;B	0.22211	0.066;0.039;0.003	B;B;B	0.21360	0.031;0.034;0.003	T	0.09952	-1.0651	10	0.34782	T	0.22	.	9.8497	0.41048	0.0965:0.0:0.9034:0.0	.	751;772;789	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	I	789;772;751	ENSP00000257209:V789I;ENSP00000352186:V772I;ENSP00000411430:V751I	ENSP00000257209:V789I	V	+	1	0	FHOD3	32552149	0.519000	0.26242	0.352000	0.25734	0.548000	0.35241	1.666000	0.37460	2.116000	0.64780	0.455000	0.32223	GTC		0.522	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
IFT122	55764	hgsc.bcm.edu	37	3	129221592	129221592	+	Missense_Mutation	SNP	G	G	A	rs372519478		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr3:129221592G>A	ENST00000348417.2	+	20	2491	c.2414G>A	c.(2413-2415)cGc>cAc	p.R805H	IFT122_ENST00000431818.2_Missense_Mutation_p.R655H|IFT122_ENST00000296266.3_Missense_Mutation_p.R856H|IFT122_ENST00000349441.2_Missense_Mutation_p.R694H|IFT122_ENST00000347300.2_Missense_Mutation_p.R746H|IFT122_ENST00000440957.2_Missense_Mutation_p.R596H|IFT122_ENST00000504021.1_Missense_Mutation_p.R681H|IFT122_ENST00000507564.1_Missense_Mutation_p.R797H|IFT122_ENST00000513932.1_3'UTR	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	805					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.R856H(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AAGGCTGAGCGCGAGCCCCTG	0.607																																					p.R694H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2081A	3						.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	111.0	103.0	106.0		2237,2567,2414,2081	6.2	1.0	3		106	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	IFT122	NM_018262.2,NM_052985.2,NM_052989.1,NM_052990.1	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	746/1183,856/1293,805/1242,694/1132	129221592	1,13005	2203	4300	6503	130704282	SO:0001583	missense	55764	exon17			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2414G>A	3.37:g.129221592G>A	ENSP00000324005:p.Arg805His		130704282	NM_052990	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516768	0.85495	0.0	1.16E-4	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	T;T;T;T;T;T;T;T;T	0.62364	0.69;0.03;0.17;0.21;0.83;0.81;0.68;0.23;0.85	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	L	0.60845	1.875	0.80722	D	1	D;P;D;P;B;P;P;P;D;D	0.89917	1.0;0.579;0.999;0.724;0.347;0.563;0.563;0.478;1.0;1.0	D;B;D;B;B;B;B;B;D;D	0.83275	0.996;0.166;0.988;0.15;0.037;0.066;0.055;0.052;0.991;0.996	T	0.69150	-0.5221	10	0.24483	T	0.36	-25.3104	20.8794	0.99867	0.0:0.0:1.0:0.0	.	596;131;797;192;681;645;694;746;805;856	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	H	746;856;797;746;655;681;694;805;645;596;302;167	ENSP00000323973:R746H;ENSP00000296266:R856H;ENSP00000425536:R797H;ENSP00000410946:R655H;ENSP00000422179:R681H;ENSP00000324165:R694H;ENSP00000324005:R805H;ENSP00000401569:R596H;ENSP00000424727:R302H	ENSP00000296266:R856H	R	+	2	0	IFT122	130704282	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	9.587000	0.98229	2.941000	0.99782	0.655000	0.94253	CGC		0.607	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262	
MSL2	55167	hgsc.bcm.edu	37	3	135913926	135913926	+	Silent	SNP	G	G	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr3:135913926G>A	ENST00000309993.2	-	1	762	c.30C>T	c.(28-30)taC>taT	p.Y10Y	MSL2_ENST00000434835.2_5'Flank	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	10	Sufficient for interaction with MSL1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.Y10Y(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TCGCGGAAATGTAGAGAGCAG	0.527																																					p.Y10Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C30T	3						.						176.0	188.0	184.0					3																	135913926		2203	4300	6503	137396616	SO:0001819	synonymous_variant	55167	exon1			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.30C>T	3.37:g.135913926G>A			137396616	NM_018133	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Silent	SNP	ENST00000309993.2	37	CCDS33861.1																																																																																				0.527	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133	
RNF123	63891	hgsc.bcm.edu	37	3	49742129	49742129	+	Silent	SNP	C	C	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr3:49742129C>A	ENST00000327697.6	+	22	2043	c.1899C>A	c.(1897-1899)ctC>ctA	p.L633L	RNF123_ENST00000432042.1_Silent_p.L487L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	633					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L633L(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CACTGGAGCTCCAGTCAACCG	0.612																																					p.L633L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1899A	3						.						52.0	43.0	46.0					3																	49742129		2201	4300	6501	49717133	SO:0001819	synonymous_variant	63891	exon22			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1899C>A	3.37:g.49742129C>A			49717133	NM_022064	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	CCDS33758.1																																																																																				0.612	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064	
MFN1	55669	hgsc.bcm.edu	37	3	179096132	179096132	+	Silent	SNP	T	T	C			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr3:179096132T>C	ENST00000471841.1	+	13	1459	c.1333T>C	c.(1333-1335)Tta>Cta	p.L445L	MFN1_ENST00000263969.5_Silent_p.L445L|MFN1_ENST00000280653.7_Intron	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	445					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L445L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTAACAGGAATTAAATAAGCA	0.333																																					p.L445L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1333C	3						.						88.0	91.0	90.0					3																	179096132		2203	4300	6503	180578826	SO:0001819	synonymous_variant	55669	exon13			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1333T>C	3.37:g.179096132T>C			180578826	NM_033540	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	CCDS3228.1																																																																																				0.333	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927	
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	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_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_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)																											p.G12V	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"""	KRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,0	.	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)	c.G35T	12						.						91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	exon2	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	NM_004985	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	
DBX2	440097	hgsc.bcm.edu	37	12	45410113	45410113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr12:45410113C>A	ENST00000332700.6	-	4	1147	c.976G>T	c.(976-978)Gaa>Taa	p.E326*		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	326					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E326*(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GCTTCTTCTTCAGAACATAAA	0.448																																					p.E326X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G976T	12						.						85.0	84.0	85.0					12																	45410113		2203	4300	6503	43696380	SO:0001587	stop_gained	440097	exon4				CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.976G>T	12.37:g.45410113C>A	ENSP00000331470:p.Glu326*		43696380	NM_001004329		Nonsense_Mutation	SNP	ENST00000332700.6	37	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475224	0.96291	.	.	ENSG00000185610	ENST00000332700	.	.	.	5.95	4.11	0.48088	.	0.563382	0.18208	N	0.148297	.	.	.	.	.	.	0.42614	D	0.993328	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-3.0825	9.4015	0.38435	0.0:0.63:0.2965:0.0735	.	.	.	.	X	326	.	ENSP00000331470:E326X	E	-	1	0	DBX2	43696380	1.000000	0.71417	0.016000	0.15963	0.979000	0.70002	2.504000	0.45416	0.822000	0.34565	0.650000	0.86243	GAA		0.448	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329	
SMARCC2	6601	hgsc.bcm.edu	37	12	56577682	56577682	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr12:56577682T>A	ENST00000267064.4	-	7	681	c.595A>T	c.(595-597)Aag>Tag	p.K199*	SMARCC2_ENST00000550859.1_Intron|SMARCC2_ENST00000394023.3_Nonsense_Mutation_p.K199*|SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.K199*|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.K199*	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	199					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.K199*(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGAACCTGCTTATCCCTCTTC	0.483																																					p.K199X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.A595T	12						.						84.0	78.0	80.0					12																	56577682		2203	4300	6503	54863949	SO:0001587	stop_gained	6601	exon7			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.595A>T	12.37:g.56577682T>A	ENSP00000267064:p.Lys199*		54863949	NM_139067	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Nonsense_Mutation	SNP	ENST00000267064.4	37	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.015128	0.93404	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.4528	13.8694	0.63610	0.0:0.0:0.0:1.0	.	.	.	.	X	199	.	ENSP00000267064:K199X	K	-	1	0	SMARCC2	54863949	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.710000	0.68392	2.172000	0.68678	0.459000	0.35465	AAG		0.483	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1		
MESDC2	23184	hgsc.bcm.edu	37	15	81271755	81271755	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr15:81271755G>C	ENST00000261758.4	-	3	596	c.510C>G	c.(508-510)atC>atG	p.I170M	MESDC2_ENST00000560244.1_5'Flank	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	170	Escort domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.I170M(1)		cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						AAAAGTCCTTGATCTCCCAGG	0.512																																					p.I170M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C510G	15						.						77.0	72.0	74.0					15																	81271755		2203	4300	6503	79058810	SO:0001583	missense	23184	exon3			D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.510C>G	15.37:g.81271755G>C	ENSP00000261758:p.Ile170Met		79058810	NM_015154	B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP	ENST00000261758.4	37	CCDS32308.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656572	0.47467	.	.	ENSG00000117899	ENST00000261758	.	.	.	5.9	3.02	0.34903	.	0.165679	0.53938	D	0.000056	T	0.53997	0.1831	L	0.55481	1.735	0.44079	D	0.99683	P	0.35307	0.494	B	0.40009	0.316	T	0.51568	-0.8689	9	0.52906	T	0.07	-8.843	9.6714	0.40015	0.2652:0.0:0.7348:0.0	.	170	Q14696	MESD_HUMAN	M	170	.	ENSP00000261758:I170M	I	-	3	3	MESDC2	79058810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.885000	0.28227	0.418000	0.25898	-0.145000	0.13849	ATC		0.512	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154	
ZGRF1	55345	hgsc.bcm.edu	37	4	113539677	113539677	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr4:113539677T>G	ENST00000505019.1	-	6	1646	c.1521A>C	c.(1519-1521)aaA>aaC	p.K507N	C4orf21_ENST00000309071.5_Missense_Mutation_p.K507N|C4orf21_ENST00000445203.2_Missense_Mutation_p.K476N	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		507						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.K507N(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CATTATCCATTTTACTTTCAG	0.323																																					p.K507N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1521C	4						.						81.0	83.0	82.0					4																	113539677		2202	4300	6502	113759126	SO:0001583	missense	55345	exon6																														ENST00000505019.1:c.1521A>C	4.37:g.113539677T>G	ENSP00000424737:p.Lys507Asn		113759126	NM_018392	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37		.	.	.	.	.	.	.	.	.	.	T	8.686	0.906209	0.17760	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.81821	-1.54;1.95;1.54	5.42	-10.6	0.00265	.	1.668670	0.02986	N	0.146337	T	0.46718	0.1407	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47045	-0.9147	10	0.08179	T	0.78	0.9682	7.7091	0.28667	0.2782:0.0:0.3705:0.3513	.	507;507	Q86YA3;G5EA02	CD021_HUMAN;.	N	507;507;476	ENSP00000424737:K507N;ENSP00000309095:K507N;ENSP00000390505:K476N	ENSP00000309095:K507N	K	-	3	2	C4orf21	113759126	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	-1.568000	0.02144	-1.527000	0.01758	-0.646000	0.03943	AAA		0.323	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		
DCHS2	54798	hgsc.bcm.edu	37	4	155180709	155180709	+	Silent	SNP	A	A	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr4:155180709A>T	ENST00000357232.4	-	20	5411	c.5412T>A	c.(5410-5412)gcT>gcA	p.A1804A		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1804	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1804A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTATGACATGAGCATTGTAGA	0.403																																					p.A1804A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T5412A	4						.						178.0	163.0	168.0					4																	155180709		2203	4300	6503	155400159	SO:0001819	synonymous_variant	54798	exon20			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5412T>A	4.37:g.155180709A>T			155400159	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.403	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
GABRG1	2565	hgsc.bcm.edu	37	4	46053442	46053442	+	Splice_Site	SNP	G	G	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr4:46053442G>T	ENST00000295452.4	-	8	1297	c.1130C>A	c.(1129-1131)tCg>tAg	p.S377*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	377					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S377*(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTAACATACCGAGGCTTTATT	0.318																																					p.S377X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.C1130A	4						.						43.0	41.0	41.0					4																	46053442		2201	4297	6498	45748199	SO:0001630	splice_region_variant	2565	exon8			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1131+1C>A	4.37:g.46053442G>T			45748199	NM_173536	Q5H9T8	Nonsense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552629	0.86127	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	.	.	.	5.63	3.83	0.44106	.	0.782790	0.11568	N	0.551119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	12.6897	0.56968	0.0:0.1312:0.7472:0.1217	.	.	.	.	X	377	.	ENSP00000295452:S377X	S	-	2	0	GABRG1	45748199	0.997000	0.39634	0.999000	0.59377	0.389000	0.30415	2.376000	0.44292	2.659000	0.90383	0.650000	0.86243	TCG		0.318	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	Nonsense_Mutation
CLCN3	1182	hgsc.bcm.edu	37	4	170628172	170628172	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr4:170628172G>A	ENST00000513761.1	+	11	2463	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	CLCN3_ENST00000504131.2_Missense_Mutation_p.R618Q|CLCN3_ENST00000360642.3_Missense_Mutation_p.R608Q|CLCN3_ENST00000347613.4_Missense_Mutation_p.R635Q	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	635					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)	p.R635Q(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GCACACATCCGATTAAATGGA	0.463																																					p.R635Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1904A	4						.						176.0	156.0	163.0					4																	170628172		2203	4300	6503	170864747	SO:0001583	missense	1182	exon11			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1904G>A	4.37:g.170628172G>A	ENSP00000424603:p.Arg635Gln		170864747	NM_001829	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129739	0.77549	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12	5.48	5.48	0.80851	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.89829	0.6828	L	0.47716	1.5	0.80722	D	1	B;B;B;B;B	0.24258	0.027;0.027;0.1;0.027;0.046	B;B;B;B;B	0.19148	0.006;0.006;0.016;0.006;0.024	D	0.86065	0.1534	10	0.42905	T	0.14	-4.2017	19.3596	0.94431	0.0:0.0:1.0:0.0	.	608;618;608;635;635	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	Q	635;635;608;618;608	ENSP00000424603:R635Q;ENSP00000261514:R635Q;ENSP00000353857:R608Q;ENSP00000424540:R618Q;ENSP00000425323:R608Q	ENSP00000261514:R635Q	R	+	2	0	CLCN3	170864747	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.877000	0.87225	2.568000	0.86640	0.655000	0.94253	CGA		0.463	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2		
CLCN4	1183	hgsc.bcm.edu	37	X	10176319	10176319	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chrX:10176319C>T	ENST00000380833.4	+	9	1469	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	CLCN4_ENST00000380829.1_Missense_Mutation_p.R329C|CLCN4_ENST00000421085.2_Missense_Mutation_p.R266C	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	360					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.R360C(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGCAGGAGGCGCAAGACCAC	0.597																																					p.R360C	Melanoma(74;1050 1296 1576 30544 38374)											.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.C1078T	X						.						107.0	102.0	104.0					X																	10176319		2203	4300	6503	10136319	SO:0001583	missense	1183	exon9			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1078C>T	X.37:g.10176319C>T	ENSP00000370213:p.Arg360Cys		10136319	NM_001830	A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.168308	0.78339	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94828	-3.48;-3.53;-3.48	5.71	5.71	0.89125	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99628	1.0985	10	0.87932	D	0	-28.1314	18.999	0.92826	0.0:1.0:0.0:0.0	.	360	P51793	CLCN4_HUMAN	C	360;329;266	ENSP00000370213:R360C;ENSP00000370209:R329C;ENSP00000405754:R266C	ENSP00000370209:R329C	R	+	1	0	CLCN4	10136319	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.188000	0.50958	2.436000	0.82500	0.592000	0.82586	CGC		0.597	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1		
RAB40A	142684	hgsc.bcm.edu	37	X	102755559	102755559	+	Silent	SNP	C	C	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chrX:102755559C>T	ENST00000372633.1	-	1	2244	c.126G>A	c.(124-126)ccG>ccA	p.P42P	RAB40A_ENST00000304236.1_Silent_p.P42P|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	42					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.P42P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						GATGGCTGTACGGGGACTCAG	0.607																																					p.P42P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G126A	X						.						125.0	110.0	115.0					X																	102755559		2203	4300	6503	102642215	SO:0001819	synonymous_variant	142684	exon3			AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"""RAB, member RAS oncogene"""	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.126G>A	X.37:g.102755559C>T			102642215	NM_080879	O00407|Q17RQ5|Q6DK06|Q8TF06	Silent	SNP	ENST00000372633.1	37	CCDS35357.1																																																																																				0.607	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1		
TLR8	51311	hgsc.bcm.edu	37	X	12937238	12937238	+	Missense_Mutation	SNP	G	G	A	rs144647258		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chrX:12937238G>A	ENST00000218032.6	+	2	166	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	TLR8_ENST00000311912.5_Missense_Mutation_p.E45K	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	27					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.E45K(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GTTATGCGCCGAAGAAAATTT	0.413													G|||	1	0.000264901	0.0008	0.0	3775	,	,		14651	0.0		0.0	False		,,,				2504	0.0				p.E27K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G79A	X						.	G	LYS/GLU	2,3833		0,2,1630,571	78.0	77.0	77.0		79	2.0	0.0	X	dbSNP_134	77	0,6728		0,0,2428,1872	no	missense	TLR8	NM_138636.4	56	0,2,4058,2443	AA,AG,GG,G		0.0,0.0522,0.0189	benign	27/1042	12937238	2,10561	2203	4300	6503	12847159	SO:0001583	missense	51311	exon2			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.79G>A	X.37:g.12937238G>A	ENSP00000218032:p.Glu27Lys		12847159	NM_138636	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.042	-1.280276	0.01398	5.22E-4	0.0	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.41400	1.0;1.0	5.22	2.03	0.26663	.	0.756830	0.11275	N	0.580985	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.06405	0.002;0.002	T	0.28038	-1.0056	10	0.13108	T	0.6	.	5.4335	0.16466	0.5625:0.0:0.4375:0.0	.	27;45	Q9NR97;D1CS70	TLR8_HUMAN;.	K	27;45	ENSP00000218032:E27K;ENSP00000312082:E45K	ENSP00000218032:E27K	E	+	1	0	TLR8	12847159	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.460000	0.21924	0.436000	0.26393	0.523000	0.50628	GAA		0.413	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
IL13RA2	3598	hgsc.bcm.edu	37	X	114249076	114249076	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chrX:114249076G>A	ENST00000371936.1	-	5	557	c.308C>T	c.(307-309)gCg>gTg	p.A103V	IL13RA2_ENST00000243213.1_Missense_Mutation_p.A103V|IL13RA2_ENST00000468224.1_5'Flank			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	103	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.A103V(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GTGTATCTTCGCTTCAATGCC	0.373																																					p.A103V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C308T	X						.						143.0	117.0	126.0					X																	114249076		2203	4300	6503	114155332	SO:0001583	missense	3598	exon4			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.308C>T	X.37:g.114249076G>A	ENSP00000361004:p.Ala103Val		114155332	NM_000640	A8K7E2|O00667	Missense_Mutation	SNP	ENST00000371936.1	37	CCDS14565.1	.	.	.	.	.	.	.	.	.	.	G	0.738	-0.777342	0.02929	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.90955	-2.76;-2.76	5.18	4.3	0.51218	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.257726	0.40554	N	0.001070	T	0.74794	0.3763	N	0.25286	0.73	0.29795	N	0.832866	P;P	0.52577	0.954;0.893	B;B	0.22601	0.04;0.022	T	0.71961	-0.4434	10	0.10111	T	0.7	-12.3356	10.1799	0.42961	0.0:0.2036:0.7964:0.0	.	103;103	D0EFR8;Q14627	.;I13R2_HUMAN	V	103	ENSP00000361004:A103V;ENSP00000243213:A103V	ENSP00000243213:A103V	A	-	2	0	IL13RA2	114155332	1.000000	0.71417	0.992000	0.48379	0.260000	0.26232	1.890000	0.39728	1.134000	0.42165	0.538000	0.68166	GCG		0.373	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640	
MBNL3	55796	hgsc.bcm.edu	37	X	131520695	131520695	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chrX:131520695G>A	ENST00000370853.3	-	5	994	c.916C>T	c.(916-918)Cct>Tct	p.P306S	RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000394311.2_Missense_Mutation_p.P210S|MBNL3_ENST00000370844.1_Missense_Mutation_p.P210S|MBNL3_ENST00000538204.1_Missense_Mutation_p.P256S|MBNL3_ENST00000370839.3_Missense_Mutation_p.P271S|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370857.3_Missense_Mutation_p.P306S|MBNL3_ENST00000370849.3_Missense_Mutation_p.P256S	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	306					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P306S(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TCACCTGCAGGGATAAATGCC	0.498																																					p.P210S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C628T	X						.						90.0	79.0	83.0					X																	131520695		2203	4300	6503	131348376	SO:0001583	missense	55796	exon6			AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.916C>T	X.37:g.131520695G>A	ENSP00000359890:p.Pro306Ser		131348376	NM_001170704	Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	37	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471855	0.84533	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000442191;ENST00000436215;ENST00000421707	T;T;T	0.57107	0.42;0.6;0.84	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	T	0.73118	0.3546	M	0.72894	2.215	0.58432	D	0.999995	D;B;D;P;D	0.89917	0.994;0.286;1.0;0.538;0.997	P;B;D;B;D	0.91635	0.858;0.396;0.999;0.396;0.919	T	0.73382	-0.4000	10	0.49607	T	0.09	-13.0011	18.9172	0.92510	0.0:0.0:1.0:0.0	.	256;306;271;256;210	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.;.	S	210;256;306;306;256;271;210;87;210;210	ENSP00000359894:P306S;ENSP00000359890:P306S;ENSP00000359876:P271S	ENSP00000359876:P271S	P	-	1	0	MBNL3	131348376	1.000000	0.71417	0.774000	0.31636	0.954000	0.61252	8.009000	0.88606	2.415000	0.81967	0.600000	0.82982	CCT		0.498	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388	
NLGN4X	57502	hgsc.bcm.edu	37	X	5947388	5947388	+	Silent	SNP	G	G	A	rs145911431	byFrequency	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chrX:5947388G>A	ENST00000381095.3	-	3	1185	c.558C>T	c.(556-558)gaC>gaT	p.D186D	NLGN4X_ENST00000381093.2_Silent_p.D206D|NLGN4X_ENST00000538097.1_Silent_p.D186D|NLGN4X_ENST00000381092.1_Silent_p.D186D|NLGN4X_ENST00000275857.6_Silent_p.D186D	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	186					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.D186D(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAATGCTGCCGTCAATCATGT	0.448													G|||	22	0.00582781	0.0159	0.0014	3775	,	,		13665	0.0		0.0	False		,,,				2504	0.0				p.D186D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C558T	X						.	G	,	42,3793		0,37,5,1595,566	155.0	116.0	129.0		558,558	-1.1	0.0	X	dbSNP_134	129	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous	NLGN4X	NM_020742.2,NM_181332.1	,	0,37,6,4023,2437	AA,AG,A,GG,G		0.0149,1.0952,0.4071	,	186/817,186/817	5947388	43,10520	2203	4300	6503	5957388	SO:0001819	synonymous_variant	57502	exon3			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.558C>T	X.37:g.5947388G>A			5957388	NM_020742	Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	CCDS14126.1																																																																																				0.448	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
NR0B1	190	hgsc.bcm.edu	37	X	30322817	30322817	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chrX:30322817C>T	ENST00000378970.4	-	2	1526	c.1292G>A	c.(1291-1293)aGt>aAt	p.S431N		NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	431	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|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)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.S431N(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GAAAAGGGTACTATTAAGTTC	0.473																																					p.S431N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1292A	X	GRCh37	CD951561	NR0B1	D		.						192.0	156.0	168.0					X																	30322817		2202	4300	6502	30232738	SO:0001583	missense	190	exon2			S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.1292G>A	X.37:g.30322817C>T	ENSP00000368253:p.Ser431Asn		30232738	NM_000475	Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.973958	0.53720	.	.	ENSG00000169297	ENST00000378970	D	0.96856	-4.15	5.39	3.47	0.39725	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.354113	0.34088	N	0.004268	D	0.95567	0.8559	L	0.54323	1.7	0.80722	D	1	D	0.56287	0.975	P	0.55055	0.767	D	0.94497	0.7706	10	0.72032	D	0.01	-23.4654	6.7752	0.23617	0.4283:0.4489:0.1228:0.0	.	431	P51843	NR0B1_HUMAN	N	431	ENSP00000368253:S431N	ENSP00000368253:S431N	S	-	2	0	NR0B1	30232738	0.679000	0.27596	0.207000	0.23584	0.353000	0.29299	3.671000	0.54576	2.276000	0.75962	0.523000	0.50628	AGT		0.473	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475	
FAM47C	442444	hgsc.bcm.edu	37	X	37028881	37028881	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chrX:37028881C>T	ENST00000358047.3	+	1	2450	c.2398C>T	c.(2398-2400)Cgc>Tgc	p.R800C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	800								p.R800C(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCAGTCTCCGCCTGGAGCC	0.592																																					p.R800C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2398T	X						.						42.0	42.0	42.0					X																	37028881		2202	4300	6502	36938802	SO:0001583	missense	442444	exon1			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2398C>T	X.37:g.37028881C>T	ENSP00000367913:p.Arg800Cys		36938802	NM_001013736	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	4.680	0.126435	0.08931	.	.	ENSG00000198173	ENST00000358047	T	0.21543	2.0	0.217	0.217	0.15264	.	.	.	.	.	T	0.09291	0.0229	N	0.08118	0	0.09310	N	1	B	0.23650	0.089	B	0.19148	0.024	T	0.31613	-0.9937	9	0.36615	T	0.2	.	6.1626	0.20372	0.0:0.9996:0.0:4.0E-4	.	800	Q5HY64	FA47C_HUMAN	C	800	ENSP00000367913:R800C	ENSP00000367913:R800C	R	+	1	0	FAM47C	36938802	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	-0.306000	0.08178	0.273000	0.22049	0.277000	0.19347	CGC		0.592	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
WNK3	65267	hgsc.bcm.edu	37	X	54275519	54275519	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chrX:54275519G>T	ENST00000375159.2	-	16	3261	c.3262C>A	c.(3262-3264)Caa>Aaa	p.Q1088K	WNK3_ENST00000375169.3_Missense_Mutation_p.Q1088K|WNK3_ENST00000354646.2_Missense_Mutation_p.Q1088K			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1088					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q1088K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTAGTGGGTTGAAGGGTAGTT	0.428																																					p.Q1088K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3262A	X						.						97.0	85.0	89.0					X																	54275519		2203	4300	6503	54292244	SO:0001583	missense	65267	exon17			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3262C>A	X.37:g.54275519G>T	ENSP00000364301:p.Gln1088Lys		54292244	NM_001002838	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	0.169	-1.073147	0.01918	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.47528	0.84;0.84;0.84	5.02	1.03	0.20045	.	1.000500	0.08068	N	0.999430	T	0.28400	0.0702	N	0.14661	0.345	0.21553	N	0.999641	B;B	0.21520	0.039;0.057	B;B	0.20955	0.032;0.014	T	0.24621	-1.0155	10	0.24483	T	0.36	-0.4997	6.7939	0.23715	0.1625:0.2621:0.5754:0.0	.	1088;1088	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	K	1088	ENSP00000364312:Q1088K;ENSP00000346667:Q1088K;ENSP00000364301:Q1088K	ENSP00000346667:Q1088K	Q	-	1	0	WNK3	54292244	1.000000	0.71417	0.000000	0.03702	0.259000	0.26198	3.566000	0.53805	-0.242000	0.09667	0.422000	0.28245	CAA		0.428	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
MAMLD1	10046	hgsc.bcm.edu	37	X	149639582	149639582	+	Silent	SNP	G	G	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chrX:149639582G>A	ENST00000370401.2	+	4	2047	c.1737G>A	c.(1735-1737)acG>acA	p.T579T	MAMLD1_ENST00000432680.2_Silent_p.T554T|MAMLD1_ENST00000426613.2_Silent_p.T554T|MAMLD1_ENST00000455522.2_Silent_p.T60T|MAMLD1_ENST00000262858.5_Silent_p.T579T			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	579					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.T506T(1)|p.T579T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CGACACCAACGCAGGCCTCCT	0.617																																					p.T554T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1662A	X						.						72.0	66.0	68.0					X																	149639582		2203	4300	6503	149390240	SO:0001819	synonymous_variant	10046	exon2			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1737G>A	X.37:g.149639582G>A			149390240	NM_001177466	B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	CCDS14693.2																																																																																				0.617	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
STAT4	6775	hgsc.bcm.edu	37	2	191929644	191929644	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr2:191929644T>G	ENST00000392320.2	-	8	985	c.671A>C	c.(670-672)gAc>gCc	p.D224A	STAT4_ENST00000358470.4_Missense_Mutation_p.D224A	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	224					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.D224A(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CATTAACAGGTCTGTCTCATG	0.468																																					p.D224A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A671C	2						.						150.0	159.0	156.0					2																	191929644		2203	4300	6503	191637889	SO:0001583	missense	6775	exon8				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.671A>C	2.37:g.191929644T>G	ENSP00000376134:p.Asp224Ala		191637889	NM_003151	Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.248461	0.39797	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.60171	0.21;0.21	5.2	5.2	0.72013	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.154695	0.56097	D	0.000035	T	0.57784	0.2077	M	0.68952	2.095	0.80722	D	1	P;P;P	0.47484	0.896;0.822;0.822	B;B;B	0.40825	0.341;0.341;0.341	T	0.66276	-0.5964	10	0.72032	D	0.01	-14.9661	15.2326	0.73404	0.0:0.0:0.0:1.0	.	133;224;224	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	A	224	ENSP00000351255:D224A;ENSP00000376134:D224A	ENSP00000351255:D224A	D	-	2	0	STAT4	191637889	1.000000	0.71417	0.655000	0.29622	0.111000	0.19643	7.518000	0.81795	2.176000	0.68965	0.523000	0.50628	GAC		0.468	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151	
ARHGAP25	9938	hgsc.bcm.edu	37	2	69053220	69053220	+	Missense_Mutation	SNP	G	G	A	rs374053151		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr2:69053220G>A	ENST00000295381.3	+	11	2251	c.1832G>A	c.(1831-1833)cGc>cAc	p.R611H	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R612H|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.R305H|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R572H|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R605H|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R604H	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	611					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R605H(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ATCAGCCTCCGCAACATGGAG	0.483																																					p.R605H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1814A	2						.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	115.0	114.0		1835,1814,1715,1811	3.9	1.0	2		114	0,8600		0,0,4300	no	missense,missense,missense,missense	ARHGAP25	NM_001007231.2,NM_001166276.1,NM_001166277.1,NM_014882.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	612/647,605/640,572/607,604/639	69053220	1,13005	2203	4300	6503	68906724	SO:0001583	missense	9938	exon10			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1832G>A	2.37:g.69053220G>A	ENSP00000295381:p.Arg611His		68906724	NM_001166276	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.76|15.76	2.927955|2.927955	0.52759|0.52759	2.27E-4|2.27E-4	0.0|0.0	ENSG00000163219|ENSG00000163219	ENST00000497259|ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000543533;ENST00000479844	.|T;T;T;T;T;T	.|0.53640	.|0.61;0.61;0.61;0.61;0.61;0.61	5.95|5.95	3.94|3.94	0.45596|0.45596	.|.	.|0.420768	.|0.26224	.|N	.|0.025620	T|T	0.43787|0.43787	0.1263|0.1263	L|L	0.46819|0.46819	1.47|1.47	0.80722|0.80722	D|D	1|1	.|D;B;B;B;B	.|0.60160	.|0.987;0.015;0.004;0.004;0.146	.|P;B;B;B;B	.|0.50754	.|0.649;0.007;0.004;0.004;0.053	T|T	0.48479|0.48479	-0.9032|-0.9032	5|10	.|0.72032	.|D	.|0.01	.|.	2.5196|2.5196	0.04676|0.04676	0.3246:0.0:0.4597:0.2157|0.3246:0.0:0.4597:0.2157	.|.	.|572;612;605;604;611	.|E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331	.|.;.;.;.;RHG25_HUMAN	T|H	471|611;612;572;604;605;596;305	.|ENSP00000295381:R611H;ENSP00000386911:R612H;ENSP00000420583:R572H;ENSP00000386863:R604H;ENSP00000386241:R605H;ENSP00000417467:R305H	.|ENSP00000295381:R611H	A|R	+|+	1|2	0|0	ARHGAP25|ARHGAP25	68906724|68906724	0.024000|0.024000	0.19004|0.19004	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	1.051000|1.051000	0.30417|0.30417	1.533000|1.533000	0.49186|0.49186	-0.137000|-0.137000	0.14449|0.14449	GCA|CGC		0.483	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882	
PGAP1	80055	hgsc.bcm.edu	37	2	197735683	197735683	+	Silent	SNP	A	A	G			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr2:197735683A>G	ENST00000354764.4	-	19	1863	c.1749T>C	c.(1747-1749)ttT>ttC	p.F583F	PGAP1_ENST00000409475.1_Silent_p.F583F	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	583					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.F583F(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTATTTGTGAAAAGGAAGTCT	0.313																																					p.F583F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1749C	2						.						76.0	81.0	80.0					2																	197735683		2203	4300	6503	197443928	SO:0001819	synonymous_variant	80055	exon19				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1749T>C	2.37:g.197735683A>G			197443928	NM_024989	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	ENST00000354764.4	37	CCDS2318.1																																																																																				0.313	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989	
UNC13B	10497	hgsc.bcm.edu	37	9	35400422	35400422	+	Missense_Mutation	SNP	C	C	T	rs150259776		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr9:35400422C>T	ENST00000378495.3	+	36	4441	c.4219C>T	c.(4219-4221)Cgc>Tgc	p.R1407C	UNC13B_ENST00000378496.4_Missense_Mutation_p.R1407C|UNC13B_ENST00000396787.1_Missense_Mutation_p.R1419C	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1407					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.R1407C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GACCTTTGTGCGCTCGCAGAC	0.522																																					p.R1407C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4219T	9						.	C	CYS/ARG	0,4406		0,0,2203	233.0	207.0	216.0		4219	5.1	1.0	9	dbSNP_134	216	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC13B	NM_006377.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1407/1592	35400422	1,13005	2203	4300	6503	35390422	SO:0001583	missense	10497	exon36			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4219C>T	9.37:g.35400422C>T	ENSP00000367756:p.Arg1407Cys		35390422	NM_006377	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064873	0.55432	0.0	1.16E-4	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.83992	-1.67;-1.58;-1.79	5.08	5.08	0.68730	.	0.348813	0.34088	N	0.004269	T	0.69468	0.3114	N	0.11427	0.14	0.47065	D	0.999304	D;B	0.54964	0.969;0.001	B;B	0.37780	0.258;0.001	T	0.77264	-0.2652	10	0.62326	D	0.03	-9.0844	19.0356	0.92976	0.0:1.0:0.0:0.0	.	1407;1407	F8W8M9;O14795	.;UN13B_HUMAN	C	1419;1407;1407;994	ENSP00000380006:R1419C;ENSP00000367756:R1407C;ENSP00000367757:R1407C	ENSP00000367756:R1407C	R	+	1	0	UNC13B	35390422	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.739000	0.55075	2.814000	0.96858	0.563000	0.77884	CGC		0.522	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
RALGPS1	9649	hgsc.bcm.edu	37	9	129796780	129796780	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr9:129796780G>A	ENST00000259351.5	+	5	554	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	RALGPS1_ENST00000373436.1_Missense_Mutation_p.R96Q|RALGPS1_ENST00000424082.2_Missense_Mutation_p.R96Q|RALGPS1_ENST00000394022.3_Missense_Mutation_p.R96Q|RALGPS1_ENST00000373434.1_Missense_Mutation_p.R96Q	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	96	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.R96Q(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCCTTTACCCGGAGGTTTAAC	0.527																																					p.R96Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G287A	9						.						183.0	128.0	147.0					9																	129796780		2203	4300	6503	128836601	SO:0001583	missense	9649	exon5			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.287G>A	9.37:g.129796780G>A	ENSP00000259351:p.Arg96Gln		128836601	NM_014636	B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.681043	0.68042	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	4.98	4.98	0.66077	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.066674	0.56097	D	0.000033	T	0.19886	0.0478	L	0.27975	0.815	0.58432	D	0.999999	P;P;P;P	0.43909	0.541;0.679;0.679;0.821	B;B;B;B	0.31442	0.077;0.046;0.046;0.13	T	0.04333	-1.0959	10	0.31617	T	0.26	.	17.4041	0.87468	0.0:0.0:1.0:0.0	.	96;96;96;96	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	Q	96	ENSP00000259351:R96Q;ENSP00000415630:R96Q;ENSP00000377590:R96Q;ENSP00000317149:R96Q;ENSP00000362535:R96Q;ENSP00000362533:R96Q	ENSP00000259351:R96Q	R	+	2	0	RALGPS1	128836601	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.955000	0.93058	2.470000	0.83445	0.563000	0.77884	CGG		0.527	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636	
PABPC3	5042	hgsc.bcm.edu	37	13	25671151	25671151	+	Missense_Mutation	SNP	G	G	A	rs368285293		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr13:25671151G>A	ENST00000281589.3	+	1	852	c.815G>A	c.(814-816)cGg>cAg	p.R272Q		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	272					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.R272Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGTGGAACGGCAGACGGAA	0.398																																					p.R272Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G815A	13						.						157.0	147.0	150.0					13																	25671151		2203	4300	6503	24569151	SO:0001583	missense	5042	exon1			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.815G>A	13.37:g.25671151G>A	ENSP00000281589:p.Arg272Gln		24569151	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676067	0.67928	.	.	ENSG00000151846	ENST00000281589	T	0.06371	3.31	0.875	0.875	0.19130	.	0.000000	0.43416	U	0.000579	T	0.32912	0.0845	H	0.98295	4.195	0.46416	D	0.999035	D	0.89917	1.0	D	0.67548	0.952	T	0.38329	-0.9666	10	0.87932	D	0	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	272	Q9H361	PABP3_HUMAN	Q	272	ENSP00000281589:R272Q	ENSP00000281589:R272Q	R	+	2	0	PABPC3	24569151	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	6.590000	0.74085	0.759000	0.33084	0.313000	0.20887	CGG		0.398	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
POMP	51371	hgsc.bcm.edu	37	13	29238656	29238656	+	Missense_Mutation	SNP	G	G	C	rs148838797		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr13:29238656G>C	ENST00000380842.4	+	3	193	c.112G>C	c.(112-114)Gtg>Ctg	p.V38L	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	38					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.V38L(1)		endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TTTTTCTTGTGTGAAAAATGA	0.274																																					p.V38L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112C	13						.	G	LEU/VAL	0,4390		0,0,2195	29.0	33.0	32.0		112	6.0	1.0	13	dbSNP_134	32	1,8581	1.2+/-3.3	0,1,4290	no	missense	POMP	NM_015932.5	32	0,1,6485	CC,CG,GG		0.0117,0.0,0.0077	possibly-damaging	38/142	29238656	1,12971	2195	4291	6486	28136656	SO:0001583	missense	51371	exon3			AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"""proteassemblin"""	613386	"""chromosome 13 open reading frame 12"""	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.112G>C	13.37:g.29238656G>C	ENSP00000370222:p.Val38Leu		28136656	NM_015932	A5HKJ2|D6MXU3|Q9HB69	Missense_Mutation	SNP	ENST00000380842.4	37	CCDS9331.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934937	0.73442	0.0	1.17E-4	ENSG00000132963	ENST00000380842	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	M	0.65975	2.015	0.80722	D	1	B	0.30563	0.285	B	0.33196	0.159	T	0.59989	-0.7350	9	0.33141	T	0.24	-10.9309	17.3175	0.87228	0.0:0.0:1.0:0.0	.	38	Q9Y244	POMP_HUMAN	L	38	.	ENSP00000370222:V38L	V	+	1	0	POMP	28136656	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.052000	0.89448	2.826000	0.97356	0.655000	0.94253	GTG		0.274	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044327.1	NM_015932	
BRCA2	675	hgsc.bcm.edu	37	13	32929036	32929036	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr13:32929036T>G	ENST00000380152.3	+	14	7279	c.7046T>G	c.(7045-7047)tTt>tGt	p.F2349C	BRCA2_ENST00000544455.1_Missense_Mutation_p.F2349C			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2349					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.F2349C(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AATCCAAATTTTACCGCACCT	0.328			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.F2349C	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T7046G	13						.						86.0	91.0	89.0					13																	32929036		2203	4300	6503	31827036	SO:0001583	missense	675	exon14	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7046T>G	13.37:g.32929036T>G	ENSP00000369497:p.Phe2349Cys		31827036	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.209106	0.39003	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80123	-1.34;-1.34	5.66	4.46	0.54185	.	0.699272	0.14460	N	0.318254	T	0.79730	0.4496	M	0.72118	2.19	0.20975	N	0.999813	B	0.18741	0.03	B	0.17098	0.017	T	0.71613	-0.4540	10	0.72032	D	0.01	.	11.7578	0.51886	0.0:0.0:0.1472:0.8528	.	2349	P51587	BRCA2_HUMAN	C	2349	ENSP00000369497:F2349C;ENSP00000439902:F2349C	ENSP00000369497:F2349C	F	+	2	0	BRCA2	31827036	0.577000	0.26708	0.055000	0.19348	0.963000	0.63663	3.557000	0.53741	1.048000	0.40298	0.528000	0.53228	TTT		0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
GPR158	57512	hgsc.bcm.edu	37	10	25861747	25861747	+	Missense_Mutation	SNP	G	G	A	rs371219715		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr10:25861747G>A	ENST00000376351.3	+	7	2043	c.1684G>A	c.(1684-1686)Ggg>Agg	p.G562R		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	562					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G562R(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TATTGGCCAGGGGAAAACATC	0.448																																					p.G562R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1684A	10						.	G	ARG/GLY	0,4406		0,0,2203	193.0	143.0	160.0		1684	5.7	1.0	10		160	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR158	NM_020752.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	562/1216	25861747	1,13005	2203	4300	6503	25901753	SO:0001583	missense	57512	exon7			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1684G>A	10.37:g.25861747G>A	ENSP00000365529:p.Gly562Arg		25901753	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772800	0.90108	0.0	1.16E-4	ENSG00000151025	ENST00000376351	D	0.87571	-2.27	5.67	5.67	0.87782	GPCR, family 3, C-terminal (2);	0.137662	0.48767	D	0.000173	D	0.93061	0.7791	M	0.81239	2.535	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.93144	0.6544	10	0.59425	D	0.04	.	13.0255	0.58812	0.0737:0.0:0.9262:0.0	.	562	Q5T848	GP158_HUMAN	R	562	ENSP00000365529:G562R	ENSP00000365529:G562R	G	+	1	0	GPR158	25901753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.677000	0.91161	0.557000	0.71058	GGG		0.448	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
PRKCQ	5588	hgsc.bcm.edu	37	10	6557001	6557001	+	Missense_Mutation	SNP	C	C	T	rs372791078		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr10:6557001C>T	ENST00000263125.5	-	2	196	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	PRKCQ_ENST00000397176.2_Missense_Mutation_p.V33I|PRKCQ_ENST00000539722.1_5'UTR	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	33	C2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.V33I(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TACTCTTTGACGAGCACAGCA	0.507																																					p.V33I	Ovarian(50;572 1126 10530 25349 30594)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G97A	10						.	C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	96.0	94.0	95.0		97,97	5.2	1.0	10		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRKCQ	NM_001242413.1,NM_006257.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	33/644,33/707	6557001	1,13005	2203	4300	6503	6597007	SO:0001583	missense	5588	exon2			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.97G>A	10.37:g.6557001C>T	ENSP00000263125:p.Val33Ile		6597007	NM_006257	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273281	0.40194	0.0	1.16E-4	ENSG00000065675	ENST00000263125;ENST00000397176	T;T	0.70164	-0.46;-0.41	5.2	5.2	0.72013	C2 calcium/lipid-binding domain, CaLB (1);	0.054615	0.64402	D	0.000001	T	0.50684	0.1630	L	0.38175	1.15	0.80722	D	1	B;P	0.43938	0.006;0.822	B;B	0.32342	0.033;0.144	T	0.55244	-0.8171	10	0.39692	T	0.17	.	12.4743	0.55803	0.0:0.9234:0.0:0.0765	.	33;33	Q04759-2;Q04759	.;KPCT_HUMAN	I	33	ENSP00000263125:V33I;ENSP00000380361:V33I	ENSP00000263125:V33I	V	-	1	0	PRKCQ	6597007	1.000000	0.71417	0.960000	0.40013	0.768000	0.43524	4.158000	0.58150	2.584000	0.87258	0.563000	0.77884	GTC		0.507	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257	
NPY4R	5540	hgsc.bcm.edu	37	10	47087186	47087186	+	Missense_Mutation	SNP	G	G	A	rs144429123		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr10:47087186G>A	ENST00000395716.1	+	2	488	c.403G>A	c.(403-405)Gtg>Atg	p.V135M	NPY4R_ENST00000374312.1_Missense_Mutation_p.V135M			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	135					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.V135M(1)									GCTCGTCCTCGTGGCCCTGGA	0.572																																					p.V135M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G403A	10						.						288.0	256.0	267.0					10																	47087186		2203	4300	6503	46507192	SO:0001583	missense	5540	exon3				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.403G>A	10.37:g.47087186G>A	ENSP00000379066:p.Val135Met		46507192	NM_005972	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978308	0.53720	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.70986	-0.53;-0.53	4.93	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.136285	0.49916	D	0.000137	T	0.70141	0.3190	N	0.26042	0.785	0.40798	D	0.983314	D	0.76494	0.999	D	0.64687	0.928	T	0.72734	-0.4204	10	0.87932	D	0	.	8.1752	0.31278	0.1832:0.0:0.8168:0.0	.	135	P50391	NPY4R_HUMAN	M	135	ENSP00000363431:V135M;ENSP00000379066:V135M	ENSP00000363431:V135M	V	+	1	0	PPYR1	46507192	1.000000	0.71417	0.981000	0.43875	0.539000	0.34962	6.054000	0.71096	2.464000	0.83262	0.609000	0.83330	GTG		0.572	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1		
TET1	80312	hgsc.bcm.edu	37	10	70432671	70432671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr10:70432671G>T	ENST00000373644.4	+	8	4902	c.4693G>T	c.(4693-4695)Gga>Tga	p.G1565*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1565					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.G1565*(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TACATGTCAAGGAATTGATCC	0.398																																					p.G1565X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G4693T	10						.						220.0	205.0	210.0					10																	70432671		2203	4300	6503	70102677	SO:0001587	stop_gained	80312	exon8			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4693G>T	10.37:g.70432671G>T	ENSP00000362748:p.Gly1565*		70102677	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Nonsense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	46	12.865106	0.99702	.	.	ENSG00000138336	ENST00000373644;ENST00000545846	.	.	.	5.35	5.35	0.76521	.	0.122186	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4244	0.94735	0.0:0.0:1.0:0.0	.	.	.	.	X	1565;37	.	ENSP00000362748:G1565X	G	+	1	0	TET1	70102677	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.741000	0.98843	2.667000	0.90743	0.585000	0.79938	GGA		0.398	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
APC	324	hgsc.bcm.edu	37	5	112174916	112174916	+	Nonsense_Mutation	SNP	G	G	T	rs201185479		TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr5:112174916G>T	ENST00000457016.1	+	16	4005	c.3625G>T	c.(3625-3627)Gaa>Taa	p.E1209*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.E1209*|APC_ENST00000508376.2_Nonsense_Mutation_p.E1209*			P25054	APC_HUMAN	adenomatous polyposis coli	1209	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.E1209*(3)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGTAAAACCGAACATATGTC	0.398		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)																											p.E1191X	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"""	.	.	5	Substitution - Nonsense(3)|Unknown(1)|Deletion - Frameshift(1)	large_intestine(3)|soft_tissue(1)|skin(1)	c.G3571T	5	GRCh37	CD011096	APC	D		.						83.0	83.0	83.0					5																	112174916		2202	4300	6502	112202815	SO:0001587	stop_gained	324	exon14	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.3625G>T	5.37:g.112174916G>T	ENSP00000413133:p.Glu1209*		112202815	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782541	0.90282	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.91	5.91	0.95273	.	0.056678	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.108	15.437	0.75155	0.0681:0.0:0.9319:0.0	.	.	.	.	X	1209	.	.	E	+	1	0	APC	112202815	1.000000	0.71417	0.997000	0.53966	0.068000	0.16541	6.778000	0.75043	2.802000	0.96397	0.655000	0.94253	GAA		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175480	112175480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr5:112175480G>T	ENST00000457016.1	+	16	4569	c.4189G>T	c.(4189-4191)Gag>Tag	p.E1397*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.E1397*|APC_ENST00000508376.2_Nonsense_Mutation_p.E1397*			P25054	APC_HUMAN	adenomatous polyposis coli	1397	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.R1399fs*9(18)|p.E1397*(8)|p.Y1376fs*41(1)|p.?(1)|p.K1192fs*3(1)|p.E1397fs*19(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)		TGATAGTTTTGAGAGTCGTTC	0.473		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)																											p.E1379X	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"""	APC,large_intestine,colon,Substitution - Nonsense,0	.	30	Deletion - Frameshift(20)|Substitution - Nonsense(8)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(28)|soft_tissue(1)|skin(1)	c.G4135T	5	GRCh37	CM992136	APC	M		.						104.0	98.0	100.0					5																	112175480		2202	4300	6502	112203379	SO:0001587	stop_gained	324	exon14	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.4189G>T	5.37:g.112175480G>T	ENSP00000413133:p.Glu1397*		112203379	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	41	8.742411	0.98937	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	6.17	0.99709	.	0.111909	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.9405	20.4898	0.99202	0.0:0.0:1.0:0.0	.	.	.	.	X	1397	.	.	E	+	1	0	APC	112203379	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.281000	0.78621	2.941000	0.99782	0.655000	0.94253	GAG		0.473	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PCDHA13	56136	hgsc.bcm.edu	37	5	140261917	140261917	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr5:140261917G>T	ENST00000289272.2	+	1	64	c.64G>T	c.(64-66)Gca>Tca	p.A22S	PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A22S|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	22					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A22S(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGATCCTCGCAGCCTGGGA	0.592																																					p.A22S	Melanoma(147;1739 1852 5500 27947 37288)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G64T	5						.						119.0	124.0	122.0					5																	140261917		2203	4300	6503	140242101	SO:0001583	missense	56136	exon1			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.64G>T	5.37:g.140261917G>T	ENSP00000289272:p.Ala22Ser		140242101	NM_031865	O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	1.697	-0.502443	0.04261	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.50277	0.75;0.81	5.4	-1.6	0.08426	.	.	.	.	.	T	0.33206	0.0855	L	0.43923	1.385	0.09310	N	1	B;B;B	0.20988	0.003;0.012;0.05	B;B;B	0.18871	0.005;0.01;0.023	T	0.23583	-1.0184	9	0.34782	T	0.22	.	4.8164	0.13369	0.5479:0.0:0.1816:0.2704	.	22;22;22	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	S	22	ENSP00000386821:A22S;ENSP00000289272:A22S	ENSP00000289272:A22S	A	+	1	0	PCDHA13	140242101	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-1.906000	0.01590	-0.202000	0.10268	-0.219000	0.12488	GCA		0.592	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
TMEM167A	153339	hgsc.bcm.edu	37	5	82357695	82357695	+	Splice_Site	SNP	C	C	A			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr5:82357695C>A	ENST00000502346.1	-	3	321		c.e3+1		TMEM167A_ENST00000511450.1_Splice_Site|SCARNA18_ENST00000459004.1_RNA	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.?(1)		large_intestine(1)|lung(1)	2						TAGACACTTACCAATTCTGGC	0.318																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						63.0	61.0	62.0					5																	82357695		2203	4300	6503	82393451	SO:0001630	splice_region_variant	153339	.			BC107575, AK055070	CCDS34198.1	5q14.2	2008-06-06	2008-06-06	2008-06-06	ENSG00000174695	ENSG00000174695			28330	protein-coding gene	gene with protein product			"""transmembrane protein 167"""	TMEM167		1316117	Standard	NM_174909		Approved	FLJ30508, MGC23909	uc003khx.4	Q8TBQ9	OTTHUMG00000162570	ENST00000502346.1:c.148+1G>T	5.37:g.82357695C>A			82393451	.	Q0P692	Splice_Site	SNP	ENST00000502346.1	37	CCDS34198.1	.	.	.	.	.	.	.	.	.	.	c	22.9	4.345899	0.82022	.	.	ENSG00000174695	ENST00000502346	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2045	0.98273	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM167A	82393451	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.473000	0.73572	2.876000	0.98609	0.645000	0.84053	.		0.318	TMEM167A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369631.2	NM_174909	Intron
CDHR2	54825	hgsc.bcm.edu	37	5	176016083	176016083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A00C-01A-01W-A005-10	TCGA-AG-A00C-10A-01W-A005-10	g.chr5:176016083C>T	ENST00000510636.1	+	22	3182	c.2908C>T	c.(2908-2910)Cga>Tga	p.R970*	CDHR2_ENST00000261944.5_Nonsense_Mutation_p.R970*|CDHR2_ENST00000506348.1_Nonsense_Mutation_p.R970*	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	970	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R970*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTCCATCCTCCGAGTAGACTT	0.577																																					p.R970X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2908T	5						.						240.0	228.0	233.0					5																	176016083		2203	4300	6503	175948689	SO:0001587	stop_gained	54825	exon22			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2908C>T	5.37:g.176016083C>T	ENSP00000424565:p.Arg970*		175948689	NM_001171976	A1L3U4|A6NC80|Q9NXP8	Nonsense_Mutation	SNP	ENST00000510636.1	37	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	c	37	6.625925	0.97714	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	.	.	.	4.76	1.49	0.22878	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	0.4428	7.4755	0.27374	0.6197:0.2918:0.0:0.0885	.	.	.	.	X	970	.	ENSP00000261944:R970X	R	+	1	2	CDHR2	175948689	0.000000	0.05858	0.033000	0.17914	0.661000	0.39034	0.160000	0.16462	0.442000	0.26555	0.543000	0.68304	CGA		0.577	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	
