#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_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	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_dbSNPPopFreq	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
SZT2	23334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	43891735	43891735	+	Missense_Mutation	SNP	G	G	A	rs531185509		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:43891735G>A	ENST00000562955.1	+	21	2956	c.2956G>A	c.(2956-2958)Gtc>Atc	p.V986I	SZT2_ENST00000372442.1_Missense_Mutation_p.V144I	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	986					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGACACCTGCGTCCATGAGAT	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20151	0.0		0.0	False		,,,				2504	0.0				p.V986I		.											.	SZT2-144	0			c.G2956A						.						134.0	112.0	119.0					1																	43891735		2203	4300	6503	SO:0001583	missense	23334	exon21			ACCTGCGTCCATG	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.2956G>A	1.37:g.43891735G>A	ENSP00000457168:p.Val986Ile	111	0		117	50	NM_015284	0	0	0	1	1	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	4.035	0.004099	0.07866	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.68	4.77	0.60923	.	0.201244	0.43416	N	0.000579	T	0.12347	0.0300	N	0.01874	-0.695	0.22610	N	0.998939	B;B	0.18310	0.002;0.027	B;B	0.15052	0.004;0.012	T	0.25433	-1.0132	9	0.02654	T	1	.	10.7835	0.46393	0.1448:0.0:0.8552:0.0	.	986;986	Q5T011-4;Q5T011-5	.;.	I	144	.	ENSP00000361519:V144I	V	+	1	0	SZT2	43664322	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.346000	0.59367	1.417000	0.47077	0.491000	0.48974	GTC	.		0.562	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
SZT2	23334	bcgsc.ca	37	1	43906896	43906896	+	Silent	SNP	A	A	G	rs2027130	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:43906896A>G	ENST00000562955.1	+	52	7185	c.7185A>G	c.(7183-7185)gaA>gaG	p.E2395E	SZT2_ENST00000372442.1_Silent_p.E1553E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2452					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GTAAAACAGAATGTGGGGATT	0.547													A|||	983	0.196286	0.0885	0.3847	5008	,	,		19153	0.0823		0.4205	False		,,,				2504	0.0951				p.E2395E		.											.	SZT2-144	0			c.A7185G						.	A		586,3820	254.6+/-260.1	40,506,1657	140.0	150.0	147.0		7185	3.1	1.0	1	dbSNP_94	147	3555,5045	515.1+/-378.5	756,2043,1501	no	coding-synonymous	SZT2	NM_015284.3		796,2549,3158	GG,GA,AA		41.3372,13.3,31.8392		2395/3376	43906896	4141,8865	2203	4300	6503	SO:0001819	synonymous_variant	23334	exon52			AACAGAATGTGGG	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7185A>G	1.37:g.43906896A>G		102	0		114	6	NM_015284	0	0	0	0	0	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	CCDS30694.2																																																																																			A|0.698;G|0.302		0.547	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
L1TD1	54596	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	62675591	62675591	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:62675591C>T	ENST00000498273.1	+	4	1440	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	382	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GAAGAGTTTTCCGAGCTAGAG	0.488																																					p.S382F		.											.	L1TD1-92	0			c.C1145T						.						74.0	84.0	80.0					1																	62675591		2203	4300	6503	SO:0001583	missense	54596	exon5			AGTTTTCCGAGCT	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1145C>T	1.37:g.62675591C>T	ENSP00000419901:p.Ser382Phe	216	0		198	15	NM_001164835	0	0	0	0	0	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095032	0.36952	.	.	ENSG00000240563	ENST00000498273	T	0.11495	2.77	3.41	2.49	0.30216	.	.	.	.	.	T	0.15912	0.0383	N	0.24115	0.695	0.09310	N	1	D	0.89917	1.0	D	0.70716	0.97	T	0.11665	-1.0578	9	0.48119	T	0.1	.	6.6162	0.22778	0.0:0.8666:0.0:0.1334	.	382	Q5T7N2	LITD1_HUMAN	F	382	ENSP00000419901:S382F	ENSP00000419901:S382F	S	+	2	0	L1TD1	62448179	0.003000	0.15002	0.003000	0.11579	0.004000	0.04260	0.235000	0.17948	1.022000	0.39626	0.455000	0.32223	TCC	.		0.488	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079	
LCE1E	353135	ucsc.edu;bcgsc.ca	37	1	152760075	152760075	+	Silent	SNP	A	A	G	rs201660535	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:152760075A>G	ENST00000368770.3	+	2	353	c.300A>G	c.(298-300)tcA>tcG	p.S100S	LCE1E_ENST00000368771.1_Silent_p.S100S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	100	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGCCCTCAGGGGGCTCCA	0.642													G|||	1333	0.266174	0.3654	0.2406	5008	,	,		14498	0.3313		0.1064	False		,,,				2504	0.2474				p.S100S		.											.	LCE1E-90	0			c.A300G						.	G		355,3853		89,177,1838	36.0	52.0	47.0		300	-4.6	0.5	1	dbSNP_132	47	177,8331		25,127,4102	no	coding-synonymous	LCE1E	NM_178353.1		114,304,5940	GG,GA,AA		2.0804,8.4363,4.1837		100/119	152760075	532,12184	2104	4254	6358	SO:0001819	synonymous_variant	353135	exon2			GCCCTCAGGGGGC	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.300A>G	1.37:g.152760075A>G		87	1		102	24	NM_178353	0	0	0	0	0	D3DV30	Silent	SNP	ENST00000368770.3	37	CCDS1024.1																																																																																			A|0.995;G|0.005		0.642	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353	
FAM189B	10712	hgsc.bcm.edu	37	1	155220208	155220208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:155220208G>A	ENST00000361361.2	-	9	1878	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	FAM189B_ENST00000368368.3_Nonsense_Mutation_p.R439*|FAM189B_ENST00000350210.2_Nonsense_Mutation_p.R361*|FAM189B_ENST00000472550.1_5'Flank	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	457						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTCGGGGCTCGGGTGGGCGGG	0.761																																					p.R457X		.											.	FAM189B-154	0			c.C1369T						.						3.0	4.0	4.0					1																	155220208		1639	3234	4873	SO:0001587	stop_gained	10712	exon9			GGGCTCGGGTGGG	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1369C>T	1.37:g.155220208G>A	ENSP00000354958:p.Arg457*	1	0		10	7	NM_006589	0	0	0	0	0	B1AVS5|Q8IXL3|Q9BR66	Nonsense_Mutation	SNP	ENST00000361361.2	37	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873215	0.72180	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361	.	.	.	4.25	2.3	0.28687	.	0.321615	0.23084	N	0.052119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2876	0.43577	0.0:0.0:0.4819:0.5181	.	.	.	.	X	361;439;457	.	ENSP00000307128:R361X	R	-	1	2	FAM189B	153486832	0.316000	0.24580	0.037000	0.18230	0.768000	0.43524	0.364000	0.20325	0.508000	0.28173	0.655000	0.94253	CGA	.		0.761	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589	
OBSCN	84033	hgsc.bcm.edu	37	1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	rs11810627	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5.0	6.0	6.0		13546,13546	-1.0	0.0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	1	0		5	4	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
ECHDC3	79746	bcgsc.ca	37	10	11805249	11805249	+	Silent	SNP	T	T	C	rs61739577	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:11805249T>C	ENST00000379215.4	+	5	829	c.618T>C	c.(616-618)ggT>ggC	p.G206G	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	206						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						TCTTTACTGGTGAGCCCATTT	0.642													C|||	734	0.146565	0.1831	0.1556	5008	,	,		18562	0.0139		0.2256	False		,,,				2504	0.1462				p.G206G		.											.	ECHDC3-90	0			c.T618C						.	C		834,3572	746.1+/-411.7	80,674,1449	75.0	60.0	65.0		618	2.6	1.0	10	dbSNP_129	65	2084,6516	716.1+/-406.1	280,1524,2496	no	coding-synonymous	ECHDC3	NM_024693.4		360,2198,3945	CC,CT,TT		24.2326,18.9287,22.4358		206/304	11805249	2918,10088	2203	4300	6503	SO:0001819	synonymous_variant	79746	exon5			TACTGGTGAGCCC	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 3"""			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.618T>C	10.37:g.11805249T>C		56	0		69	4	NM_024693	0	1	31	32	0	Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Silent	SNP	ENST00000379215.4	37	CCDS7084.1																																																																																			T|0.807;C|0.193		0.642	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693	
PROSER2	254427	hgsc.bcm.edu	37	10	11912144	11912144	+	Silent	SNP	C	C	T	rs17851505	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:11912144C>T	ENST00000277570.5	+	4	1201	c.1047C>T	c.(1045-1047)caC>caT	p.H349H	PROSER2_ENST00000379200.1_Silent_p.H153H|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	349																	CAAGTGCGCACGAGGCCCTGA	0.766													C|||	360	0.071885	0.0923	0.049	5008	,	,		5950	0.001		0.0805	False		,,,				2504	0.1247				p.H349H		.											.	.	0			c.C1047T						.	C		209,2543		3,203,1170	2.0	3.0	2.0		1047	-2.8	0.7	10	dbSNP_123	2	285,5043		6,273,2385	no	coding-synonymous	C10orf47	NM_153256.3		9,476,3555	TT,TC,CC		5.3491,7.5945,6.1139		349/436	11912144	494,7586	1376	2664	4040	SO:0001819	synonymous_variant	254427	exon4			TGCGCACGAGGCC	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.1047C>T	10.37:g.11912144C>T		0	0		10	6	NM_153256	0	0	0	0	0	D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Silent	SNP	ENST00000277570.5	37	CCDS7085.1																																																																																			C|0.932;T|0.068		0.766	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256	
WDFY4	57705	bcgsc.ca	37	10	50184949	50184949	+	Silent	SNP	C	C	T	rs2271565	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:50184949C>T	ENST00000325239.5	+	58	9243	c.9216C>T	c.(9214-9216)tgC>tgT	p.C3072C	WDFY4_ENST00000413659.2_3'UTR|WDFY4_ENST00000465910.1_3'UTR|RP11-523O18.5_ENST00000428825.4_RNA	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	3072						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CCATAACCTGCTGCTGCCTGA	0.597													C|||	1674	0.334265	0.062	0.402	5008	,	,		16207	0.3502		0.4871	False		,,,				2504	0.4806				p.C3072C		.											.	WDFY4-22	0			c.C9216T						.	C		184,1200		14,156,522	73.0	76.0	75.0		9216	3.8	1.0	10	dbSNP_100	75	1568,1614		398,772,421	no	coding-synonymous	WDFY4	NM_020945.1		412,928,943	TT,TC,CC		49.2772,13.2948,38.3706		3072/3185	50184949	1752,2814	692	1591	2283	SO:0001819	synonymous_variant	57705	exon59			AACCTGCTGCTGC	AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.9216C>T	10.37:g.50184949C>T		232	2		210	8	NM_020945	0	0	7	7	0	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Silent	SNP	ENST00000325239.5	37	CCDS44385.1	729	0.33379120879120877	37	0.07520325203252033	147	0.40607734806629836	171	0.29895104895104896	374	0.49340369393139843	C	13.59	2.281938	0.40394	0.132948	0.492772	ENSG00000128815	ENST00000265453	.	.	.	4.74	3.84	0.44239	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.49995	-0.8879	3	.	.	.	.	12.3839	0.55322	0.0:0.9184:0.0:0.0816	rs2271565;rs17772905;rs2271565	.	.	.	V	1159	.	.	A	+	2	0	WDFY4	49854955	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.643000	0.37217	1.351000	0.45789	-0.251000	0.11542	GCT	C|0.685;T|0.315		0.597	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
TBC1D12	23232	hgsc.bcm.edu	37	10	96163039	96163039	+	Silent	SNP	C	C	G	rs2477534	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:96163039C>G	ENST00000225235.4	+	1	779	c.669C>G	c.(667-669)ccC>ccG	p.P223P		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	223							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GGGACAGCCCCGCCAGCAGCT	0.751													G|||	3411	0.68111	0.6165	0.5648	5008	,	,		8936	0.8373		0.6342	False		,,,				2504	0.7382				p.P223P		.											.	TBC1D12-68	0			c.C669G						.	G		1895,863		709,477,193	2.0	3.0	3.0		669	-2.0	0.0	10	dbSNP_100	3	4435,1895		1664,1107,394	yes	coding-synonymous	TBC1D12	NM_015188.1		2373,1584,587	GG,GC,CC		29.9368,31.2908,30.3477		223/776	96163039	6330,2758	1379	3165	4544	SO:0001819	synonymous_variant	23232	exon1			CAGCCCCGCCAGC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.669C>G	10.37:g.96163039C>G		0	0		8	8	NM_015188	0	0	0	0	0	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	CCDS41553.1																																																																																			C|0.339;G|0.661		0.751	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2		
PIK3AP1	118788	bcgsc.ca	37	10	98380277	98380277	+	Silent	SNP	C	C	T	rs3748234	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:98380277C>T	ENST00000339364.5	-	12	1892	c.1773G>A	c.(1771-1773)tcG>tcA	p.S591S	PIK3AP1_ENST00000371110.2_Silent_p.S413S|RNA5SP324_ENST00000365177.1_RNA|PIK3AP1_ENST00000371109.3_Silent_p.S190S	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	591					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CATATATACTCGACTGGGGCC	0.582													C|||	2871	0.573283	0.3177	0.5058	5008	,	,		18553	0.8234		0.5994	False		,,,				2504	0.682				p.S591S		.											.	PIK3AP1-519	0			c.G1773A						.	C		1531,2875	483.3+/-359.7	280,971,952	60.0	56.0	57.0		1773	-11.8	0.0	10	dbSNP_107	57	5358,3242	649.9+/-400.7	1685,1988,627	no	coding-synonymous	PIK3AP1	NM_152309.2		1965,2959,1579	TT,TC,CC		37.6977,34.7481,47.0321		591/806	98380277	6889,6117	2203	4300	6503	SO:0001819	synonymous_variant	118788	exon12			TATACTCGACTGG	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1773G>A	10.37:g.98380277C>T		128	1		113	5	NM_152309	0	0	0	0	0	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	CCDS31259.1																																																																																			C|0.452;T|0.548		0.582	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309	
RRP12	23223	bcgsc.ca	37	10	99160152	99160152	+	Silent	SNP	A	A	G	rs1048442	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:99160152A>G	ENST00000370992.4	-	2	390	c.279T>C	c.(277-279)ggT>ggC	p.G93G	RRP12_ENST00000315563.6_Silent_p.G93G|RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000414986.1_Silent_p.G93G	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	93						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCAGGAAGGTACCCGAGGACT	0.597													G|||	2006	0.400559	0.5378	0.3444	5008	,	,		18936	0.3125		0.336	False		,,,				2504	0.4121				p.G93G		.											.	RRP12-92	0			c.T279C						.	G	,	2190,2216	589.6+/-387.2	554,1082,567	127.0	123.0	125.0		279,279	1.5	0.1	10	dbSNP_86	125	2722,5878	681.7+/-403.7	430,1862,2008	no	coding-synonymous,coding-synonymous	RRP12	NM_001145114.1,NM_015179.3	,	984,2944,2575	GG,GA,AA		31.6512,49.7049,37.7672	,	93/1237,93/1298	99160152	4912,8094	2203	4300	6503	SO:0001819	synonymous_variant	23223	exon2			GAAGGTACCCGAG		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.279T>C	10.37:g.99160152A>G		146	1		115	7	NM_001145114	0	0	1	1	0	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																			A|0.622;G|0.378		0.597	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	
NFKB2	4791	hgsc.bcm.edu	37	10	104159196	104159196	+	Silent	SNP	A	A	G	rs4919633	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000428099.1_Silent_p.P423P|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000189444.6_Silent_p.P423P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1.0		0.999	False		,,,				2504	1.0				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3.0	5.0	4.0		1269,1269,1269	-4.9	0.0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1269A>G	10.37:g.104159196A>G		0	0		7	7	NM_001077494	0	0	0	1	1	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2		
LHPP	64077	hgsc.bcm.edu	37	10	126150523	126150523	+	Missense_Mutation	SNP	C	C	A	rs75426652	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:126150523C>A	ENST00000368842.5	+	1	120	c.92C>A	c.(91-93)aCg>aAg	p.T31K	LHPP_ENST00000392757.4_Missense_Mutation_p.T31K|LHPP_ENST00000368839.1_Missense_Mutation_p.T31K	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	31					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GGCGGCGGCACGGCCATCGCC	0.771													C|||	497	0.0992412	0.3427	0.0288	5008	,	,		7758	0.0109		0.0119	False		,,,				2504	0.001				p.T31K	GBM(165;1980 2715 15999 18454)	.											.	LHPP-90	0			c.C92A						.	C	LYS/THR,LYS/THR	756,2764		49,658,1053	5.0	5.0	5.0		92,92	-8.6	0.0	10	dbSNP_131	5	60,6906		1,58,3424	no	missense,missense	LHPP	NM_001167880.1,NM_022126.3	78,78	50,716,4477	AA,AC,CC		0.8613,21.4773,7.7818	benign,benign	31/211,31/271	126150523	816,9670	1760	3483	5243	SO:0001583	missense	64077	exon1			GCGGCACGGCCAT	AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.92C>A	10.37:g.126150523C>A	ENSP00000357835:p.Thr31Lys	0	0		6	6	NM_022126	0	0	0	2	2	B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Missense_Mutation	SNP	ENST00000368842.5	37	CCDS7640.1	176	0.08058608058608059	156	0.3170731707317073	10	0.027624309392265192	3	0.005244755244755245	7	0.009234828496042216	C	4.235	0.042626	0.08196	0.214773	0.008613	ENSG00000107902	ENST00000392757;ENST00000368842;ENST00000368839	T;T;T	0.26810	1.71;1.71;1.71	4.3	-8.6	0.00889	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	2.588180	0.01329	N	0.011196	T	0.00012	0.0000	N	0.17838	0.53	0.80722	P	0.0	B;B;B	0.15719	0.014;0.01;0.001	B;B;B	0.09377	0.002;0.004;0.004	T	0.26849	-1.0091	9	0.07813	T	0.8	0.4261	4.7267	0.12945	0.0882:0.123:0.2632:0.5256	.	31;31;31	Q5T1Z0;Q9H008-2;Q9H008	.;.;LHPP_HUMAN	K	31	ENSP00000376512:T31K;ENSP00000357835:T31K;ENSP00000357832:T31K	ENSP00000357832:T31K	T	+	2	0	LHPP	126140513	0.000000	0.05858	0.000000	0.03702	0.859000	0.49053	-1.087000	0.03383	-2.575000	0.00465	-0.300000	0.09419	ACG	C|0.919;A|0.081		0.771	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050870.1	NM_022126	
CTBP2	1488	bcgsc.ca	37	10	126678148	126678148	+	Missense_Mutation	SNP	G	G	T	rs146419230		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:126678148G>T	ENST00000337195.5	-	11	1676	c.1277C>A	c.(1276-1278)gCg>gAg	p.A426E	CTBP2_ENST00000494626.2_Missense_Mutation_p.A426E|CTBP2_ENST00000531469.1_Missense_Mutation_p.A426E|CTBP2_ENST00000309035.6_Missense_Mutation_p.A966E|CTBP2_ENST00000334808.6_Missense_Mutation_p.A494E|CTBP2_ENST00000411419.2_Missense_Mutation_p.A426E	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	426					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)	p.A966G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGGAGAGGGCGCTTGGGAAGG	0.572																																					p.A966E		.											.	CTBP2-90	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C2897A						.						72.0	72.0	72.0					10																	126678148		2203	4300	6503	SO:0001583	missense	1488	exon9			GAGGGCGCTTGGG	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.1277C>A	10.37:g.126678148G>T	ENSP00000338615:p.Ala426Glu	44	0		47	4	NM_022802	0	0	20	20	0	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424326	0.83667	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.85013	-1.79;-1.93;-1.93;-1.79;-1.79;-1.79	5.12	5.12	0.69794	.	0.252302	0.39341	N	0.001392	D	0.89619	0.6767	L	0.39898	1.24	0.58432	D	0.999999	D;D;P	0.89917	0.982;1.0;0.802	P;D;P	0.79108	0.895;0.992;0.666	D	0.90542	0.4503	10	0.87932	D	0	.	18.7591	0.91843	0.0:0.0:1.0:0.0	.	426;966;494	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	E	426;966;494;426;426;426	ENSP00000338615:A426E;ENSP00000311825:A966E;ENSP00000357816:A494E;ENSP00000434630:A426E;ENSP00000436285:A426E;ENSP00000410474:A426E	ENSP00000311825:A966E	A	-	2	0	CTBP2	126668138	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.168000	0.94781	2.665000	0.90641	0.650000	0.86243	GCG	.		0.572	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914	
FANK1	92565	hgsc.bcm.edu	37	10	127585221	127585221	+	Nonsense_Mutation	SNP	C	C	T	rs202109621		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:127585221C>T	ENST00000368693.1	+	1	114	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	FANK1_ENST00000449042.2_5'UTR|FANK1_ENST00000368695.1_5'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CATGGAGCCCCAGAGTAAGGg	0.756																																					p.Q4X		.											.	FANK1-91	0			c.C10T						.						8.0	12.0	11.0					10																	127585221		2169	4258	6427	SO:0001587	stop_gained	92565	exon1			GAGCCCCAGAGTA	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.10C>T	10.37:g.127585221C>T	ENSP00000357682:p.Gln4*	2	0		88	6	NM_145235	0	0	0	0	0	Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122908	0.94429	.	.	ENSG00000203780	ENST00000368693	.	.	.	2.62	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.8436	0.23977	0.274:0.726:0.0:0.0	.	.	.	.	X	4	.	ENSP00000357682:Q4X	Q	+	1	0	FANK1	127575211	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	1.578000	0.36525	0.621000	0.30232	0.462000	0.41574	CAG	.		0.756	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235	
PWWP2B	170394	hgsc.bcm.edu	37	10	134219045	134219045	+	Silent	SNP	C	C	T	rs11146364	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:134219045C>T	ENST00000305233.5	+	2	1100	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	PWWP2B_ENST00000368609.4_Silent_p.P347P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	347										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		AGCACGAGCCCGTGTACCGGG	0.721													C|||	820	0.163738	0.2027	0.2104	5008	,	,		13504	0.1429		0.1074	False		,,,				2504	0.1575				p.P347P		.											.	PWWP2B-90	0			c.C1041T						.	C	,	636,3612		51,534,1539	16.0	21.0	20.0		1041,1041	-2.7	0.1	10	dbSNP_120	20	704,7662		24,656,3503	yes	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	75,1190,5042	TT,TC,CC		8.415,14.9718,10.6231	,	347/500,347/591	134219045	1340,11274	2124	4183	6307	SO:0001819	synonymous_variant	170394	exon2			CGAGCCCGTGTAC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1041C>T	10.37:g.134219045C>T		0	0		5	5	NM_001098637	0	0	1	1	0	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			C|0.860;T|0.140		0.721	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499	
MUC5B	727897	bcgsc.ca	37	11	1264691	1264691	+	Missense_Mutation	SNP	T	T	C	rs2943502	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:1264691T>C	ENST00000529681.1	+	31	6639	c.6581T>C	c.(6580-6582)aTg>aCg	p.M2194T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.M2197T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2194	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		M -> T (in dbSNP:rs2943502). {ECO:0000269|PubMed:9013550}.		cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGAACACCATGGCCACCACA	0.672													t|||	4060	0.810703	0.9448	0.7853	5008	,	,		8825	0.9593		0.5984	False		,,,				2504	0.7127				p.M2194T		.											.	.	0			c.T6581C						.	C	THR/MET	3120,586		1478,164,211	25.0	58.0	48.0		6581	-4.5	0.0	11	dbSNP_101	48	3886,4072		1639,608,1732	no	missense	MUC5B	NM_002458.2	81	3117,772,1943	CC,CT,TT		48.8314,15.8122,39.9348	benign	2194/5763	1264691	7006,4658	1853	3979	5832	SO:0001583	missense	727897	exon31			ACACCATGGCCAC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6581T>C	11.37:g.1264691T>C	ENSP00000436812:p.Met2194Thr	136	3		263	55	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	1357	0.6213369963369964	333	0.676829268292683	219	0.6049723756906077	469	0.8199300699300699	336	0.44327176781002636	t	0.103	-1.149913	0.01714	0.841878	0.488314	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16743	2.32;2.51	2.24	-4.47	0.03525	.	.	.	.	.	T	0.00012	0.0000	N	0.01297	-0.9	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35748	-0.9776	8	0.87932	D	0	.	2.4981	0.04627	0.122:0.2666:0.1215:0.4899	rs2943502;rs61184360	2832;2197	A7Y9J9;E9PBJ0	.;.	T	2194;2197;2195;2209	ENSP00000436812:M2194T;ENSP00000415793:M2197T	ENSP00000343037:M2195T	M	+	2	0	MUC5B	1221267	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.878000	0.00344	-2.697000	0.00400	-2.840000	0.00105	ATG	T|0.408;C|0.592		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
KRTAP5-4	387267	hgsc.bcm.edu;bcgsc.ca	37	11	1643258	1643258	+	Silent	SNP	C	C	T	rs28696103		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:1643258C>T	ENST00000399682.1	-	1	110	c.66G>A	c.(64-66)ggG>ggA	p.G22G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		agccacagcccccacagccgg	0.687																																					p.G22G		.											.	.	0			c.G66A						.						5.0	8.0	7.0					11																	1643258		651	1535	2186	SO:0001819	synonymous_variant	387267	exon1			ACAGCCCCCACAG	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.66G>A	11.37:g.1643258C>T		66	0		245	25	NM_001012709	0	0	0	0	0		Silent	SNP	ENST00000399682.1	37																																																																																				.		0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709	
OR52B6	340980	bcgsc.ca	37	11	5602438	5602438	+	Missense_Mutation	SNP	T	T	A	rs541562623|rs2341432	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:5602438T>A	ENST00000345043.2	+	1	332	c.332T>A	c.(331-333)cTc>cAc	p.L111H	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	111			L -> H (in dbSNP:rs2341432).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTATAGCCTCATTTCCTTT	0.502														3581	0.715056	0.7352	0.67	5008	,	,		23317	0.9802		0.4761	False		,,,				2504	0.6922				p.L111H		.											.	OR52B6-69	0			c.T332A						.	A	HIS/LEU	3064,1328	394.9+/-329.4	1077,910,209	109.0	110.0	109.0		332	2.7	0.0	11	dbSNP_100	109	4023,4567	578.8+/-390.8	936,2151,1208	yes	missense	OR52B6	NM_001005162.2	99	2013,3061,1417	AA,AT,TT		46.8335,30.2368,45.409	benign	111/336	5602438	7087,5895	2196	4295	6491	SO:0001583	missense	340980	exon1			ATAGCCTCATTTC	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.332T>A	11.37:g.5602438T>A	ENSP00000341581:p.Leu111His	220	0		203	8	NM_001005162	0	0	0	0	0	Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	CCDS41611.1	1483	0.6790293040293041	348	0.7073170731707317	227	0.6270718232044199	553	0.9667832167832168	355	0.4683377308707124	A	3.783	-0.045281	0.07452	0.697632	0.468335	ENSG00000187747	ENST00000345043	T	0.00554	6.64	5.15	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.686748	0.11712	N	0.536805	T	0.00012	0.0000	N	0.10707	0.03	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38265	-0.9669	9	0.41790	T	0.15	.	5.9086	0.19014	0.5833:0.1517:0.0:0.265	rs2341432;rs16933200;rs52836118;rs60418242;rs2341432	111	Q8NGF0	O52B6_HUMAN	H	111	ENSP00000341581:L111H	ENSP00000341581:L111H	L	+	2	0	OR52B6	5559014	0.000000	0.05858	0.000000	0.03702	0.293000	0.27360	0.473000	0.22132	0.400000	0.25396	-0.265000	0.10407	CTC	T|0.358;A|0.642		0.502	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162	
OR8U1	219417	ucsc.edu	37	11	56143357	56143357	+	Silent	SNP	G	G	A	rs76949582	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:56143357G>A	ENST00000302270.1	+	1	258	c.258G>A	c.(256-258)ttG>ttA	p.L86L		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GGAATTTCTTGTACAAACAAA	0.403																																					p.L86L		.											.	OR8U1-72	0			c.G258A						.						240.0	218.0	225.0					11																	56143357		1980	4170	6150	SO:0001819	synonymous_variant	219417	exon1			TTTCTTGTACAAA	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.258G>A	11.37:g.56143357G>A		75	3		79	11	NM_001005204	0	0	0	0	0		Silent	SNP	ENST00000302270.1	37	CCDS41647.1																																																																																			G|0.844;A|0.156		0.403	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204	
OR8U1	219417	ucsc.edu;bcgsc.ca	37	11	56143360	56143360	+	Silent	SNP	C	C	T	rs79469149	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:56143360C>T	ENST00000302270.1	+	1	261	c.261C>T	c.(259-261)taC>taT	p.Y87Y		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					ATTTCTTGTACAAACAAAATG	0.403																																					p.Y87Y		.											.	OR8U1-72	0			c.C261T						.						234.0	214.0	220.0					11																	56143360		1982	4171	6153	SO:0001819	synonymous_variant	219417	exon1			CTTGTACAAACAA	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.261C>T	11.37:g.56143360C>T		76	1		78	8	NM_001005204	0	0	0	0	0		Silent	SNP	ENST00000302270.1	37	CCDS41647.1																																																																																			C|0.852;T|0.148		0.403	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204	
HNRNPUL2	221092	hgsc.bcm.edu	37	11	62494434	62494434	+	Silent	SNP	G	G	A	rs376882579		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:62494434G>A	ENST00000301785.5	-	1	387	c.195C>T	c.(193-195)gcC>gcT	p.A65A	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.A65A|TTC9C_ENST00000316461.4_5'Flank|TTC9C_ENST00000513247.2_5'Flank|TTC9C_ENST00000532583.1_5'Flank	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	65						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CGCCCGACGCGGCCACAGGCC	0.776													G|||	1	0.000199681	0.0	0.0	5008	,	,		7037	0.0		0.0	False		,,,				2504	0.001				p.A65A		.											.	HNRNPUL2-22	0			c.C195T						.	G		0,2750		0,0,1375	2.0	2.0	2.0		195	2.0	1.0	11		2	6,6300		0,6,3147	no	coding-synonymous	HNRNPUL2	NM_001079559.2		0,6,4522	AA,AG,GG		0.0951,0.0,0.0663		65/748	62494434	6,9050	1375	3153	4528	SO:0001819	synonymous_variant	221092	exon1			CGACGCGGCCACA		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.195C>T	11.37:g.62494434G>A		0	0		4	4	NM_001079559	0	0	0	0	0	Q8N3B3	Silent	SNP	ENST00000301785.5	37	CCDS41659.1																																																																																			.		0.776	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877	
VEGFB	7423	hgsc.bcm.edu	37	11	64005029	64005029	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:64005029C>T	ENST00000309422.2	+	6	844	c.548C>T	c.(547-549)aCc>aTc	p.T183I	VEGFB_ENST00000426086.2_Silent_p.H149H	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	183					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	CCCAGCACCACCAGCGCCCTG	0.711																																					p.T183I		.											.	VEGFB-90	0			c.C548T						.						12.0	13.0	13.0					11																	64005029		2190	4279	6469	SO:0001583	missense	7423	exon6			GCACCACCAGCGC	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.548C>T	11.37:g.64005029C>T	ENSP00000311127:p.Thr183Ile	2	0		21	17	NM_003377	0	0	19	223	204	Q16528	Missense_Mutation	SNP	ENST00000309422.2	37	CCDS8062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.18|12.18	1.862000|1.862000	0.32884|0.32884	.|.	.|.	ENSG00000173511|ENSG00000173511	ENST00000541681|ENST00000309422	.|.	.|.	.|.	4.86|4.86	1.74|1.74	0.24563|0.24563	.|.	.|12.022600	.|0.00166	.|N	.|0.000001	T|T	0.31670|0.31670	0.0804|0.0804	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.57004|0.57004	-0.7885|-0.7885	5|9	.|0.56958	.|D	.|0.05	-0.6824|-0.6824	1.0218|1.0218	0.01520|0.01520	0.1831:0.4271:0.1776:0.2121|0.1831:0.4271:0.1776:0.2121	.|.	.|183	.|P49765	.|VEGFB_HUMAN	S|I	8|183	.|.	.|ENSP00000311127:T183I	P|T	+|+	1|2	0|0	VEGFB|VEGFB	63761605|63761605	0.889000|0.889000	0.30405|0.30405	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	0.173000|0.173000	0.16724|0.16724	1.170000|1.170000	0.42753|0.42753	0.561000|0.561000	0.74099|0.74099	CCA|ACC	.		0.711	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396393.2	NM_003377	
ZDHHC24	254359	bcgsc.ca	37	11	66307025	66307025	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:66307025G>T	ENST00000310442.3	-	3	1064	c.830C>A	c.(829-831)gCa>gAa	p.A277E	ZDHHC24_ENST00000526986.1_Intron|CTD-3074O7.12_ENST00000602427.1_lincRNA|ZDHHC24_ENST00000525925.1_5'Flank	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	277						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						TCCCACATCTGCTGTGGTCTG	0.652																																					p.A277E		.											.	ZDHHC24-68	0			c.C830A						.						33.0	33.0	33.0					11																	66307025		2200	4295	6495	SO:0001583	missense	254359	exon3			ACATCTGCTGTGG	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.830C>A	11.37:g.66307025G>T	ENSP00000309429:p.Ala277Glu	48	0		59	4	NM_207340	0	0	46	46	0	Q6PEW7|Q9BSJ0	Missense_Mutation	SNP	ENST00000310442.3	37	CCDS8143.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050229	0.36181	.	.	ENSG00000174165	ENST00000310442	T	0.41065	1.01	4.43	1.32	0.21799	.	0.486350	0.19768	N	0.106507	T	0.10337	0.0253	N	0.00841	-1.15	0.09310	N	1	B	0.20671	0.047	B	0.14578	0.011	T	0.38693	-0.9649	10	0.02654	T	1	-1.2507	7.2081	0.25919	0.0:0.3525:0.4664:0.1811	.	277	Q6UX98	ZDH24_HUMAN	E	277	ENSP00000309429:A277E	ENSP00000309429:A277E	A	-	2	0	ZDHHC24	66063601	.	.	0.005000	0.12908	0.304000	0.27724	.	.	1.035000	0.39972	0.491000	0.48974	GCA	.		0.652	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340	
PC	5091	broad.mit.edu	37	11	66631380	66631380	+	Silent	SNP	G	G	A			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:66631380G>A	ENST00000393958.2	-	11	1326	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	PC_ENST00000393955.2_Silent_p.S411S|PC_ENST00000524491.1_Silent_p.S371S|PC_ENST00000355677.3_Silent_p.S411S|PC_ENST00000393960.1_Silent_p.S411S	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	411	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTTGGAAGGCGGAAGCATTAT	0.617																																					p.S411S		.											.	PC-228	0			c.C1233T						.						165.0	146.0	153.0					11																	66631380		2200	4295	6495	SO:0001819	synonymous_variant	5091	exon11			GAAGGCGGAAGCA	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1233C>T	11.37:g.66631380G>A		100	1		158	5	NM_000920	0	0	9	9	0	B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	CCDS8152.1																																																																																			.		0.617	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	
RSF1	51773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	77412599	77412599	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:77412599T>C	ENST00000308488.6	-	6	1977	c.1675A>G	c.(1675-1677)Acc>Gcc	p.T559A	RSF1_ENST00000480887.1_Missense_Mutation_p.T307A|RSF1_ENST00000360355.2_Missense_Mutation_p.T528A			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	559					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CACGACTCGGTGGAAGATAAA	0.413																																					p.T559A		.											.	RSF1-93	0			c.A1675G						.						186.0	190.0	189.0					11																	77412599		2200	4292	6492	SO:0001583	missense	51773	exon6			ACTCGGTGGAAGA	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1675A>G	11.37:g.77412599T>C	ENSP00000311513:p.Thr559Ala	66	0		69	28	NM_016578	0	0	2	5	3	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	6.060	0.379460	0.11466	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.86164	-2.01;-2.03;-2.01;-2.08;1.35	5.23	-3.01	0.05463	.	0.459334	0.20635	N	0.088517	T	0.74405	0.3712	L	0.34521	1.04	0.28571	N	0.910623	B	0.02656	0.0	B	0.01281	0.0	T	0.58211	-0.7676	10	0.22109	T	0.4	0.0481	7.7869	0.29097	0.0:0.4822:0.1415:0.3763	.	559	Q96T23	RSF1_HUMAN	A	559;307;528;360;558	ENSP00000311513:T559A;ENSP00000434509:T307A;ENSP00000353511:T528A;ENSP00000432022:T360A;ENSP00000436408:T558A	ENSP00000311513:T559A	T	-	1	0	RSF1	77090247	0.006000	0.16342	0.552000	0.28243	0.270000	0.26580	-0.434000	0.06939	-0.741000	0.04797	0.533000	0.62120	ACC	.		0.413	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578	
FAM181B	220382	hgsc.bcm.edu	37	11	82443754	82443754	+	Missense_Mutation	SNP	G	G	A	rs147683846	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:82443754G>A	ENST00000329203.3	-	1	1152	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	340	Pro-rich.									large_intestine(1)|lung(2)|prostate(1)	4						CCGCCGCGGGGGGCAGTCAGG	0.697													G|||	39	0.00778754	0.0015	0.0043	5008	,	,		11170	0.0238		0.007	False		,,,				2504	0.0031				p.P340S		.											.	FAM181B-135	0			c.C1018T						.	G	SER/PRO	1,1743		0,1,871	1.0	1.0	1.0		1018	-4.4	0.0	11	dbSNP_134	1	38,4482		0,38,2222	yes	missense	FAM181B	NM_175885.3	74	0,39,3093	AA,AG,GG		0.8407,0.0573,0.6226	possibly-damaging	340/427	82443754	39,6225	872	2260	3132	SO:0001583	missense	220382	exon1			CGCGGGGGGCAGT	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1018C>T	11.37:g.82443754G>A	ENSP00000365295:p.Pro340Ser	0	0		11	7	NM_175885	0	0	1	2	1	B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	CCDS31648.1	39	0.017857142857142856	12	0.024390243902439025	3	0.008287292817679558	17	0.02972027972027972	7	0.009234828496042216	G	4.247	0.044790	0.08196	5.73E-4	0.008407	ENSG00000182103	ENST00000329203	T	0.29397	1.57	5.27	-4.36	0.03645	.	0.754197	0.11109	N	0.598752	T	0.04318	0.0119	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.25187	-1.0139	9	.	.	.	.	2.0392	0.03546	0.1466:0.2205:0.3614:0.2715	.	340	A6NEQ2	F181B_HUMAN	S	340	ENSP00000365295:P340S	.	P	-	1	0	FAM181B	82121402	0.000000	0.05858	0.000000	0.03702	0.530000	0.34684	-0.239000	0.08965	-0.564000	0.06070	0.561000	0.74099	CCC	G|0.982;A|0.018		0.697	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885	
TMPRSS5	80975	bcgsc.ca	37	11	113570385	113570385	+	Missense_Mutation	SNP	C	C	T	rs11601425	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:113570385C>T	ENST00000299882.5	-	3	285	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	TMPRSS5_ENST00000544634.1_Missense_Mutation_p.R46Q|TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000540540.1_Intron|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.R2Q|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.R2Q|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.R37Q	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	46			R -> Q (in dbSNP:rs11601425). {ECO:0000269|PubMed:17918732}.		proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		ACAGCCACGTCGCATGGAACG	0.632													c|||	210	0.0419329	0.0061	0.0764	5008	,	,		16592	0.001		0.0905	False		,,,				2504	0.0583				p.R46Q		.											.	TMPRSS5-1	0			c.G137A						.		GLN/ARG	93,4151		2,89,2031	18.0	25.0	23.0		137	3.1	0.4	11	dbSNP_120	23	919,7551		52,815,3368	yes	missense	TMPRSS5	NM_030770.2	43	54,904,5399	TT,TC,CC		10.8501,2.1913,7.9597	benign	46/458	113570385	1012,11702	2122	4235	6357	SO:0001583	missense	80975	exon3			CCACGTCGCATGG	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.137G>A	11.37:g.113570385C>T	ENSP00000299882:p.Arg46Gln	210	2		316	9	NM_030770	0	0	0	0	0		Missense_Mutation	SNP	ENST00000299882.5	37	CCDS44735.1	107	0.04899267399267399	6	0.012195121951219513	27	0.07458563535911603	0	0.0	74	0.09762532981530343	c	16.55	3.155673	0.57259	0.021913	0.108501	ENSG00000166682	ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	D;D;D;D;D	0.88896	-2.44;-2.44;-2.37;-2.42;-2.43	4.02	3.09	0.35607	.	0.350692	0.23859	N	0.043867	T	0.05273	0.0140	N	0.17082	0.46	0.20489	N	0.999895	B;B;B	0.31318	0.201;0.319;0.005	B;B;B	0.17433	0.012;0.018;0.002	T	0.15292	-1.0442	10	0.38643	T	0.18	.	6.9714	0.24650	0.0:0.8679:0.0:0.1321	rs11601425;rs17533506;rs52821493;rs11601425	46;37;46	F5GYA3;F5GX83;Q9H3S3	.;.;TMPS5_HUMAN	Q	46;37;2;46;2	ENSP00000299882:R46Q;ENSP00000441104:R37Q;ENSP00000445528:R2Q;ENSP00000440783:R46Q;ENSP00000445930:R2Q	ENSP00000299882:R46Q	R	-	2	0	TMPRSS5	113075595	0.000000	0.05858	0.354000	0.25760	0.035000	0.12851	-0.348000	0.07740	1.001000	0.39076	0.450000	0.29827	CGA	C|0.946;T|0.054		0.632	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770	
TAPBPL	55080	bcgsc.ca	37	12	6562823	6562823	+	Missense_Mutation	SNP	C	C	T	rs2041387	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:6562823C>T	ENST00000266556.7	+	3	671	c.506C>T	c.(505-507)gCg>gTg	p.A169V	TAPBPL_ENST00000544021.1_Missense_Mutation_p.A92V|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	169			A -> V (in dbSNP:rs2041387). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						AAGAATGAGGCGCTCTGGCAC	0.572													C|||	1293	0.258187	0.1846	0.1744	5008	,	,		18472	0.3224		0.3042	False		,,,				2504	0.3037				p.A169V		.											.	TAPBPL-90	0			c.C506T						.	C	VAL/ALA	825,3581	324.8+/-298.8	84,657,1462	37.0	35.0	36.0		506	4.6	0.0	12	dbSNP_94	36	2622,5978	419.4+/-353.1	407,1808,2085	yes	missense	TAPBPL	NM_018009.4	64	491,2465,3547	TT,TC,CC		30.4884,18.7245,26.5032	benign	169/469	6562823	3447,9559	2203	4300	6503	SO:0001583	missense	55080	exon3			ATGAGGCGCTCTG	AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.506C>T	12.37:g.6562823C>T	ENSP00000266556:p.Ala169Val	93	0		136	6	NM_018009	0	0	17	17	0	Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	CCDS8546.1	562	0.2573260073260073	88	0.17886178861788618	63	0.17403314917127072	188	0.32867132867132864	223	0.2941952506596306	C	9.385	1.073965	0.20147	0.187245	0.304884	ENSG00000139192	ENST00000544021;ENST00000266556	T;T	0.48201	0.82;3.02	4.56	4.56	0.56223	.	0.481446	0.23317	N	0.049484	T	0.00012	0.0000	L	0.56769	1.78	0.58432	P	2.9999999999752447E-6	B	0.10296	0.003	B	0.08055	0.003	T	0.25012	-1.0144	9	0.21014	T	0.42	-5.8199	12.8579	0.57897	0.0:1.0:0.0:0.0	rs2041387;rs3168617;rs16932609;rs17196801;rs17845451;rs17858324;rs57407101;rs2041387	169	Q9BX59	TPSNR_HUMAN	V	92;169	ENSP00000445341:A92V;ENSP00000266556:A169V	ENSP00000266556:A169V	A	+	2	0	TAPBPL	6433084	0.179000	0.23135	0.022000	0.16811	0.002000	0.02628	1.069000	0.30641	2.097000	0.63578	0.609000	0.83330	GCG	C|0.744;N|0.000		0.572	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009	
TAPBPL	55080	bcgsc.ca	37	12	6562836	6562836	+	Silent	SNP	G	G	A	rs2041388	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:6562836G>A	ENST00000266556.7	+	3	684	c.519G>A	c.(517-519)ccG>ccA	p.P173P	TAPBPL_ENST00000544021.1_Silent_p.P96P|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	173					negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TCTGGCACCCGACGCTGAACT	0.567													G|||	1016	0.202875	0.0136	0.1599	5008	,	,		18787	0.3224		0.2932	False		,,,				2504	0.273				p.P173P		.											.	TAPBPL-90	0			c.G519A						.	G		249,4157	142.7+/-177.9	8,233,1962	31.0	30.0	31.0		519	-0.2	0.0	12	dbSNP_94	31	2499,6101	401.6+/-347.2	364,1771,2165	no	coding-synonymous	TAPBPL	NM_018009.4		372,2004,4127	AA,AG,GG		29.0581,5.6514,21.1287		173/469	6562836	2748,10258	2203	4300	6503	SO:0001819	synonymous_variant	55080	exon3			GCACCCGACGCTG	AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.519G>A	12.37:g.6562836G>A		81	0		124	6	NM_018009	0	0	18	18	0	Q9NWB8	Silent	SNP	ENST00000266556.7	37	CCDS8546.1																																																																																			G|0.800;A|0.200		0.567	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009	
ZNF384	171017	hgsc.bcm.edu	37	12	6777075	6777075	+	Silent	SNP	C	C	T	rs1052680		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:6777075C>T	ENST00000396801.3	-	11	1746	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000355772.4_Silent_p.Q397Q|ZNF384_ENST00000396795.1_Silent_p.Q452Q|ZNF384_ENST00000396799.2_Silent_p.Q452Q|ZNF384_ENST00000319770.3_Silent_p.Q436Q|ZNF384_ENST00000361959.3_Silent_p.Q513Q|RP4-761J14.8_ENST00000586338.1_RNA	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	513	Gln-rich.				nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						gctgttgctgctgctgctgct	0.667			T	"""EWSR1, TAF15 """	ALL																																p.Q513Q		.		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	.	ZNF384-1083	0			c.G1539A						.						18.0	22.0	21.0					12																	6777075		2203	4296	6499	SO:0001819	synonymous_variant	171017	exon11			TTGCTGCTGCTGC	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1539G>A	12.37:g.6777075C>T		17	0		63	4	NM_001135734	0	0	18	18	0	O15407|Q7Z722|Q8N938	Silent	SNP	ENST00000396801.3	37	CCDS44817.1																																																																																			C|1.000;|0.000		0.667	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1		
FAM90A1	55138	ucsc.edu	37	12	8375048	8375048	+	Missense_Mutation	SNP	G	G	T	rs17857270	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:8375048G>T	ENST00000538603.1	-	7	1323	c.765C>A	c.(763-765)agC>agA	p.S255R	FAM90A1_ENST00000307435.6_Missense_Mutation_p.S255R	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	255				VS -> AR (in Ref. 4; AAH42608). {ECO:0000305}.			nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTGCCTGGGGGCTGACGGCCT	0.657													.|||	1062	0.212061	0.056	0.1715	5008	,	,		17570	0.4107		0.175	False		,,,				2504	0.2853				p.S255R		.											.	FAM90A1-91	0			c.C765A						.						29.0	45.0	39.0					12																	8375048		2124	4186	6310	SO:0001583	missense	55138	exon7			CTGGGGGCTGACG	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.765C>A	12.37:g.8375048G>T	ENSP00000445418:p.Ser255Arg	11	0		77	8	NM_018088	0	0	0	1	1	D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	CCDS31738.1	361	0.1652930402930403	28	0.056910569105691054	42	0.11602209944751381	207	0.3618881118881119	84	0.11081794195250659	.	0.131	-1.113878	0.01799	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.10382	2.88;2.88	1.02	-2.04	0.07343	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.47459	-0.9116	8	0.12103	T	0.63	-1.0903	5.004	0.14279	0.0:0.0:0.3874:0.6126	rs17857270	255	Q86YD7	F90A1_HUMAN	R	255	ENSP00000307798:S255R;ENSP00000445418:S255R	ENSP00000307798:S255R	S	-	3	2	FAM90A1	8266315	0.017000	0.18338	0.000000	0.03702	0.036000	0.12997	0.308000	0.19314	-0.634000	0.05538	-1.055000	0.02315	AGC	G|0.859;T|0.141		0.657	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088	
TUBA1C	84790	ucsc.edu	37	12	49666152	49666152	+	Silent	SNP	G	G	A	rs199599214	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:49666152G>A	ENST00000301072.6	+	4	767	c.492G>A	c.(490-492)aaG>aaA	p.K164K	TUBA1C_ENST00000541364.1_Silent_p.K234K|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	164					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K164K(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						ATGGCAAGAAGTCCAAGCTGG	0.547																																					p.K164K		.											.	TUBA1C-90	1	Substitution - coding silent(1)	large_intestine(1)	c.G492A						.						56.0	58.0	57.0					12																	49666152		2203	4300	6503	SO:0001819	synonymous_variant	84790	exon4			CAAGAAGTCCAAG	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.492G>A	12.37:g.49666152G>A		252	11		375	21	NM_032704	0	0	435	657	222		Silent	SNP	ENST00000301072.6	37	CCDS8782.1																																																																																			G|0.998;A|0.002		0.547	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704	
KRT83	3889	broad.mit.edu	37	12	52709845	52709845	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:52709845G>T	ENST00000293670.3	-	7	1156	c.1094C>A	c.(1093-1095)gCc>gAc	p.A365D		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	365	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.A365D(2)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACTGAGGGCCGCCTCACC	0.597																																					p.A365D	GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	.											.	KRT83-91	2	Substitution - Missense(2)	prostate(1)|endometrium(1)	c.C1094A						.						36.0	36.0	36.0					12																	52709845		2203	4299	6502	SO:0001583	missense	3889	exon7			CTGAGGGCCGCCT	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1094C>A	12.37:g.52709845G>T	ENSP00000293670:p.Ala365Asp	26	3		138	17	NM_002282	0	0	0	0	0	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319489	0.60524	.	.	ENSG00000170523	ENST00000293670	T	0.74737	-0.87	3.84	3.84	0.44239	Filament (1);	0.168584	0.27749	U	0.018016	D	0.83830	0.5339	M	0.72894	2.215	0.40384	D	0.97947	D	0.55605	0.972	D	0.64877	0.93	D	0.85501	0.1191	9	.	.	.	.	16.1279	0.81406	0.0:0.0:1.0:0.0	.	365	P78385	KRT83_HUMAN	D	365	ENSP00000293670:A365D	.	A	-	2	0	KRT83	50996112	1.000000	0.71417	0.702000	0.30337	0.425000	0.31504	7.806000	0.86020	1.867000	0.54127	0.563000	0.77884	GCC	.		0.597	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282	
BTBD11	121551	hgsc.bcm.edu	37	12	107713511	107713511	+	Missense_Mutation	SNP	G	G	C	rs961498	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:107713511G>C	ENST00000280758.5	+	1	1322	c.794G>C	c.(793-795)gGg>gCg	p.G265A	BTBD11_ENST00000420571.2_Missense_Mutation_p.G265A|BTBD11_ENST00000490090.2_Missense_Mutation_p.G265A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	265						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGTGGCCCTGGGTCAGGCTCG	0.751													G|||	1975	0.394369	0.2194	0.4539	5008	,	,		9398	0.4127		0.492	False		,,,				2504	0.4693				p.G265A		.											.	BTBD11-93	0			c.G794C						.	G	ALA/GLY	786,2720		135,516,1102	5.0	3.0	3.0		794	4.2	0.1	12	dbSNP_86	3	2882,3822		730,1422,1200	no	missense	BTBD11	NM_001018072.1	60	865,1938,2302	CC,CG,GG		42.9893,22.4187,35.9256	benign	265/1105	107713511	3668,6542	1753	3352	5105	SO:0001583	missense	121551	exon1			GCCCTGGGTCAGG	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.794G>C	12.37:g.107713511G>C	ENSP00000280758:p.Gly265Ala	0	0		4	4	NM_001018072	0	0	0	0	0	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	899	0.4116300366300366	119	0.241869918699187	158	0.43646408839779005	241	0.42132867132867136	381	0.5026385224274407	G	11.75	1.731449	0.30684	0.224187	0.429893	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090	T;T;T	0.33865	1.39;1.48;1.43	4.15	4.15	0.48705	Histone-fold (1);	0.272599	0.26478	N	0.024144	T	0.00012	0.0000	L	0.52905	1.665	0.09310	P	1.0	B;B;B	0.28971	0.229;0.088;0.143	B;B;B	0.29176	0.099;0.017;0.061	T	0.47898	-0.9081	9	0.54805	T	0.06	.	13.8733	0.63634	0.0:0.0:1.0:0.0	rs961498	265;265;265	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	A	265	ENSP00000280758:G265A;ENSP00000413889:G265A;ENSP00000447319:G265A	ENSP00000280758:G265A	G	+	2	0	BTBD11	106237641	0.973000	0.33851	0.080000	0.20451	0.808000	0.45660	2.685000	0.46959	2.308000	0.77769	0.549000	0.68633	GGG	G|0.588;C|0.412		0.751	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
SRRM4	84530	hgsc.bcm.edu	37	12	119594512	119594512	+	Missense_Mutation	SNP	G	G	C	rs140426282	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:119594512G>C	ENST00000267260.4	+	13	2133	c.1745G>C	c.(1744-1746)cGg>cCg	p.R582P		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	582	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCCCGCagccggagccggagc	0.716													G|||	37	0.00738818	0.0008	0.0159	5008	,	,		11859	0.0		0.0219	False		,,,				2504	0.0031				p.R582P		.											.	SRRM4-2	0			c.G1745C						.	G	PRO/ARG	6,3266		0,6,1630	2.0	4.0	4.0		1745	2.5	0.8	12	dbSNP_134	4	67,6959		0,67,3446	no	missense	SRRM4	NM_194286.3	103	0,73,5076	CC,CG,GG		0.9536,0.1834,0.7089	possibly-damaging	582/612	119594512	73,10225	1636	3513	5149	SO:0001583	missense	84530	exon13			GCAGCCGGAGCCG	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1745G>C	12.37:g.119594512G>C	ENSP00000267260:p.Arg582Pro	1	0		15	5	NM_194286	0	0	0	0	0	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	24	0.01098901098901099	1	0.0020325203252032522	7	0.019337016574585635	0	0.0	16	0.021108179419525065	G	12.44	1.937207	0.34189	0.001834	0.009536	ENSG00000139767	ENST00000267260	T	0.26518	1.73	4.42	2.54	0.30619	.	0.356243	0.18124	U	0.150962	T	0.06554	0.0168	N	0.08118	0	0.21184	N	0.999765	P	0.41214	0.742	B	0.42692	0.395	T	0.11916	-1.0568	9	.	.	.	-1.3819	8.1375	0.31063	0.2624:0.0:0.7376:0.0	.	582	A7MD48	SRRM4_HUMAN	P	582	ENSP00000267260:R582P	.	R	+	2	0	SRRM4	118078895	0.994000	0.37717	0.795000	0.32087	0.902000	0.53008	0.270000	0.18607	0.839000	0.34971	0.650000	0.86243	CGG	G|0.989;C|0.011		0.716	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286	
SCARB1	949	hgsc.bcm.edu	37	12	125348263	125348263	+	Missense_Mutation	SNP	C	C	T	rs4238001	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:125348263C>T	ENST00000415380.2	-	1	129	c.4G>A	c.(4-6)Ggc>Agc	p.G2S	SCARB1_ENST00000376788.1_Missense_Mutation_p.G2S|SCARB1_ENST00000546215.1_Missense_Mutation_p.G2S|SCARB1_ENST00000339570.5_Missense_Mutation_p.G2S|SCARB1_ENST00000535005.1_Intron|SCARB1_ENST00000261693.6_Missense_Mutation_p.G2S			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	2			G -> S (associated with higher plasma triglyceride concentration in subjects with hypercholesterolemia; dbSNP:rs4238001). {ECO:0000269|PubMed:12519372, ECO:0000269|PubMed:12966036}.		adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCGGAGCAGCCCATGTCTGCG	0.741													C|||	322	0.0642971	0.0666	0.0994	5008	,	,		9316	0.003		0.1163	False		,,,				2504	0.046				p.G2S		.											.	SCARB1-226	0			c.G4A	GRCh37	CM994635	SCARB1	M	rs4238001	.	C	SER/GLY,SER/GLY	221,3989		8,205,1892	10.0	9.0	9.0		4,4	3.2	1.0	12	dbSNP_111	9	800,7270		43,714,3278	no	missense,missense	SCARB1	NM_001082959.1,NM_005505.4	56,56	51,919,5170	TT,TC,CC		9.9133,5.2494,8.3143	probably-damaging,probably-damaging	2/507,2/510	125348263	1021,11259	2105	4035	6140	SO:0001583	missense	949	exon1			AGCAGCCCATGTC	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.4G>A	12.37:g.125348263C>T	ENSP00000414979:p.Gly2Ser	0	0		10	6	NM_005505	0	0	13	40	27	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37		165	0.07554945054945054	44	0.08943089430894309	36	0.09944751381215469	0	0.0	85	0.11213720316622691	C	18.49	3.635365	0.67130	0.052494	0.099133	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000545493	T;T;T;T;T;T	0.78481	-0.07;-0.07;-0.08;-1.18;-0.01;0.18	3.22	3.22	0.36961	.	1.157680	0.06728	U	0.776122	T	0.12518	0.0304	L	0.60455	1.87	0.09310	P	0.9999999999958479	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.986;0.986;0.986;0.994;0.994	T	0.59757	-0.7394	9	0.62326	D	0.03	-23.5156	10.5912	0.45310	0.0:1.0:0.0:0.0	rs4238001	2;2;2;2;2	B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;SCRB1_HUMAN;.;.	S	2	ENSP00000343795:G2S;ENSP00000414979:G2S;ENSP00000261693:G2S;ENSP00000365984:G2S;ENSP00000442862:G2S;ENSP00000443454:G2S	ENSP00000261693:G2S	G	-	1	0	SCARB1	123914216	1.000000	0.71417	0.996000	0.52242	0.247000	0.25773	1.365000	0.34182	1.734000	0.51633	0.185000	0.17295	GGC	C|0.935;T|0.065		0.741	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505	
FZD10	11211	broad.mit.edu	37	12	130647553	130647553	+	Missense_Mutation	SNP	C	C	A	rs200800452		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:130647553C>A	ENST00000229030.4	+	1	550	c.66C>A	c.(64-66)agC>agA	p.S22R	FZD10_ENST00000539839.1_5'UTR|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	22					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S22R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGCCATCAGCTCCATGGACA	0.667																																					p.S22R		.											.	FZD10-658	2	Substitution - Missense(2)	prostate(1)|lung(1)	c.C66A						.						11.0	11.0	11.0					12																	130647553		2191	4283	6474	SO:0001583	missense	11211	exon1			CATCAGCTCCATG	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.66C>A	12.37:g.130647553C>A	ENSP00000229030:p.Ser22Arg	45	1		180	22	NM_007197	0	0	0	0	0		Missense_Mutation	SNP	ENST00000229030.4	37	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386995	0.25031	.	.	ENSG00000111432	ENST00000229030	T	0.76968	-1.06	3.43	-0.743	0.11105	.	1.117550	0.07024	U	0.827300	T	0.63698	0.2533	L	0.27053	0.805	0.50813	D	0.999897	B	0.10296	0.003	B	0.04013	0.001	T	0.44711	-0.9310	10	0.25106	T	0.35	.	8.7037	0.34340	0.0:0.6722:0.0:0.3278	.	22	Q9ULW2	FZD10_HUMAN	R	22	ENSP00000229030:S22R	ENSP00000229030:S22R	S	+	3	2	FZD10	129213506	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.073000	0.41519	-0.099000	0.12263	0.561000	0.74099	AGC	.		0.667	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
MYH6	4624	broad.mit.edu	37	14	23862646	23862646	+	Missense_Mutation	SNP	C	C	A	rs143978652	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr14:23862646C>A	ENST00000356287.3	-	22	3039	c.3010G>T	c.(3010-3012)Gcc>Tcc	p.A1004S	MYH6_ENST00000405093.3_Missense_Mutation_p.A1004S			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1004			A -> S (in CMD1EE; dbSNP:rs143978652). {ECO:0000269|PubMed:15998695}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGCTGATGGGCCTCTTGTAGA	0.522													C|||	3	0.000599042	0.0	0.0014	5008	,	,		21523	0.0		0.002	False		,,,				2504	0.0				p.A1004S		.											.	MYH6-94	0			c.G3010T	GRCh37	CM052257	MYH6	M	rs143978652	.	C	SER/ALA	1,4405	2.1+/-5.4	0,1,2202	163.0	155.0	158.0		3010	5.1	1.0	14	dbSNP_134	158	11,8589	8.4+/-32.0	0,11,4289	yes	missense	MYH6	NM_002471.3	99	0,12,6491	AA,AC,CC		0.1279,0.0227,0.0923	benign	1004/1940	23862646	12,12994	2203	4300	6503	SO:0001583	missense	4624	exon23			GATGGGCCTCTTG	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3010G>T	14.37:g.23862646C>A	ENSP00000348634:p.Ala1004Ser	168	0		192	8	NM_002471	0	0	0	0	0	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	16.63	3.177919	0.57692	2.27E-4	0.001279	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82984	-1.67;-1.67	5.12	5.12	0.69794	.	.	.	.	.	T	0.80944	0.4721	L	0.55017	1.72	0.58432	D	0.999993	B	0.17852	0.024	B	0.21546	0.035	T	0.78145	-0.2318	9	0.59425	D	0.04	.	15.3069	0.73998	0.1404:0.8596:0.0:0.0	.	1004	P13533	MYH6_HUMAN	S	1004	ENSP00000386041:A1004S;ENSP00000348634:A1004S	ENSP00000348634:A1004S	A	-	1	0	MYH6	22932486	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.383000	0.44354	2.557000	0.86248	0.650000	0.86243	GCC	C|0.999;A|0.001		0.522	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
DHRS4	10901	ucsc.edu	37	14	24424289	24424289	+	Silent	SNP	T	T	C	rs1127279	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr14:24424289T>C	ENST00000313250.5	+	2	377	c.174T>C	c.(172-174)caT>caC	p.H58H	DHRS4_ENST00000397073.2_Silent_p.H40H|DHRS4_ENST00000558263.1_Silent_p.H58H|DHRS4_ENST00000397075.3_Silent_p.H58H|DHRS4_ENST00000558581.1_Silent_p.H58H|DHRS4_ENST00000421831.1_Silent_p.H40H|DHRS4_ENST00000382761.3_Silent_p.H40H|DHRS4_ENST00000397074.3_Silent_p.H58H|DHRS4_ENST00000559632.1_Silent_p.H58H|DHRS4_ENST00000543741.2_Silent_p.H58H|DHRS4_ENST00000308178.8_Silent_p.H40H|DHRS4-AS1_ENST00000556379.1_RNA	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	58					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	ACGGGGCCCATGTGGTCGTCA	0.657													.|||	13	0.00259585	0.0008	0.0	5008	,	,		16143	0.005		0.004	False		,,,				2504	0.0031				p.H58H		.											.	DHRS4-91	0			c.T174C						.						55.0	62.0	59.0					14																	24424289		2203	4299	6502	SO:0001819	synonymous_variant	10901	exon2			GGCCCATGTGGTC	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.174T>C	14.37:g.24424289T>C		82	3		368	110	NM_021004	0	0	46	46	0	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Silent	SNP	ENST00000313250.5	37	CCDS9605.1																																																																																			.		0.657	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		
PLEKHG3	26030	hgsc.bcm.edu	37	14	65209970	65209970	+	Missense_Mutation	SNP	G	G	A	rs201046500	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr14:65209970G>A	ENST00000394691.1	+	17	3356	c.3209G>A	c.(3208-3210)cGg>cAg	p.R1070Q	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R575Q|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R1014Q|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R603Q|PLEKHG3_ENST00000492928.1_Intron			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1070							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		gggggcggccggccccgcggc	0.711													G|||	11	0.00219649	0.0	0.0014	5008	,	,		13440	0.0		0.0	False		,,,				2504	0.0102				p.R1014Q		.											.	PLEKHG3-91	0			c.G3041A						.	G	GLN/ARG	0,4332		0,0,2166	13.0	17.0	16.0		3041	2.2	0.9	14		16	6,8440		0,6,4217	no	missense	PLEKHG3	NM_015549.1	43	0,6,6383	AA,AG,GG		0.071,0.0,0.047	benign	1014/1164	65209970	6,12772	2166	4223	6389	SO:0001583	missense	26030	exon15			GCGGCCGGCCCCG	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3209G>A	14.37:g.65209970G>A	ENSP00000378183:p.Arg1070Gln	1	0		21	10	NM_015549	0	0	0	0	0	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37		.	.	.	.	.	.	.	.	.	.	G	5.724	0.318080	0.10845	0.0	7.1E-4	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.60040	0.66;0.22;1.53;1.53	5.39	2.17	0.27698	.	0.896444	0.09468	N	0.798077	T	0.47875	0.1469	N	0.19112	0.55	0.09310	N	1	D;D;B;B	0.69078	0.997;0.997;0.041;0.04	P;P;B;B	0.54590	0.756;0.756;0.006;0.008	T	0.33904	-0.9850	10	0.13853	T	0.58	.	5.3836	0.16206	0.2558:0.1594:0.5848:0.0	.	603;575;1070;1014	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	Q	1014;1070;603;575	ENSP00000247226:R1014Q;ENSP00000378183:R1070Q;ENSP00000450945:R603Q;ENSP00000450973:R575Q	ENSP00000247226:R1014Q	R	+	2	0	PLEKHG3	64279723	0.018000	0.18449	0.864000	0.33941	0.011000	0.07611	0.657000	0.24963	1.264000	0.44198	-0.150000	0.13652	CGG	G|0.996;A|0.004		0.711	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549	
MAGEL2	54551	broad.mit.edu	37	15	23889708	23889708	+	Missense_Mutation	SNP	A	A	T	rs398122417		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr15:23889708A>T	ENST00000532292.1	-	1	1467	c.1373T>A	c.(1372-1374)aTc>aAc	p.I458N		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	341	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ACGGTTGATGATATCTAAGCA	0.453																																					p.I1061N		.											.	.	0			c.T3182A						.						79.0	74.0	76.0					15																	23889708		1947	4147	6094	SO:0001583	missense	54551	exon1			TTGATGATATCTA	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1373T>A	15.37:g.23889708A>T	ENSP00000433433:p.Ile458Asn	190	0		164	4	NM_019066	0	0	0	0	0		Missense_Mutation	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	A	16.52	3.146487	0.57044	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	T	0.81688	0.4875	H	0.94423	3.535	0.36480	D	0.86781	.	.	.	.	.	.	D	0.88272	0.2930	5	.	.	.	.	10.43	0.44403	1.0:0.0:0.0:0.0	.	.	.	.	T	490	.	.	S	-	1	0	MAGEL2	21440801	0.999000	0.42202	0.968000	0.41197	0.839000	0.47603	2.403000	0.44530	2.032000	0.59987	0.383000	0.25322	TCA	.		0.453	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066	
LACTB	114294	hgsc.bcm.edu	37	15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	rs34317102	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4.0	4.0	4.0		13,13	3.1	1.0	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	0	0		10	10	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857	
KBTBD13	390594	hgsc.bcm.edu	37	15	65369395	65369395	+	Missense_Mutation	SNP	C	C	T	rs2919358	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr15:65369395C>T	ENST00000432196.2	+	1	242	c.242C>T	c.(241-243)gCc>gTc	p.A81V	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	81					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CTGCTGCAGGCCGTGGAGTGC	0.736													C|||	2613	0.521765	0.6036	0.5447	5008	,	,		9840	0.7312		0.3887	False		,,,				2504	0.316				p.A81V		.											.	.	0			c.C242T						.	C	VAL/ALA	1463,1441		405,653,394	2.0	3.0	2.0		242	4.6	1.0	15	dbSNP_101	2	2172,4110		500,1172,1469	no	missense	KBTBD13	NM_001101362.2	64	905,1825,1863	TT,TC,CC		34.575,49.6212,39.5711	possibly-damaging	81/459	65369395	3635,5551	1452	3141	4593	SO:0001583	missense	390594	exon1			TGCAGGCCGTGGA		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"""BTB/POZ domain containing"""	37227	protein-coding gene	gene with protein product	"""nemaline myopathy type 6"""	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.242C>T	15.37:g.65369395C>T	ENSP00000388723:p.Ala81Val	0	0		8	8	NM_001101362	0	0	0	0	0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	1197	0.5480769230769231	302	0.6138211382113821	191	0.5276243093922652	410	0.7167832167832168	294	0.38786279683377306	C	20.9	4.061996	0.76187	0.503788	0.34575	ENSG00000234438	ENST00000432196	T	0.67865	-0.29	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.00012	0.0000	N	0.21324	0.655	0.22629	P	0.99891774	P	0.47034	0.889	P	0.50896	0.653	T	0.37753	-0.9692	8	0.26408	T	0.33	.	17.2241	0.86964	0.0:1.0:0.0:0.0	rs2919358	81	C9JR72	KBTBD_HUMAN	V	81	ENSP00000388723:A81V	ENSP00000388723:A81V	A	+	2	0	KBTBD13	63156448	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.251000	0.78297	2.390000	0.81377	0.650000	0.86243	GCC	C|0.452;T|0.548		0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362	
KBTBD13	390594	hgsc.bcm.edu	37	15	65369531	65369531	+	Silent	SNP	G	G	T	rs2946642	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr15:65369531G>T	ENST00000432196.2	+	1	378	c.378G>T	c.(376-378)gcG>gcT	p.A126A	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	126					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						ACAGTGCCGCGCTCTTCATCT	0.716													G|||	2512	0.501597	0.531	0.5403	5008	,	,		9855	0.7302		0.3877	False		,,,				2504	0.316				p.A126A		.											.	.	0			c.G378T						.	G		1399,1573		380,639,467	2.0	2.0	2.0		378	-0.2	1.0	15	dbSNP_101	2	2035,4139		455,1125,1507	no	coding-synonymous	KBTBD13	NM_001101362.2		835,1764,1974	TT,TG,GG		32.9608,47.0727,37.5465		126/459	65369531	3434,5712	1486	3087	4573	SO:0001819	synonymous_variant	390594	exon1			TGCCGCGCTCTTC		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"""BTB/POZ domain containing"""	37227	protein-coding gene	gene with protein product	"""nemaline myopathy type 6"""	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.378G>T	15.37:g.65369531G>T		0	0		7	6	NM_001101362	0	0	0	0	0		Silent	SNP	ENST00000432196.2	37	CCDS45281.1																																																																																			G|0.479;T|0.521		0.716	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362	
CHRNB4	1143	bcgsc.ca	37	15	78921762	78921762	+	Silent	SNP	G	G	A	rs3743072	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr15:78921762G>A	ENST00000261751.3	-	5	996	c.885C>T	c.(883-885)atC>atT	p.I295I	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	295					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GGTACTTGCCGATGAGAGGCA	0.567													G|||	275	0.0549121	0.1233	0.0101	5008	,	,		22662	0.0813		0.008	False		,,,				2504	0.0153				p.I295I		.											.	CHRNB4-90	0			c.C885T						.	G		435,3957	210.2+/-230.7	24,387,1785	159.0	124.0	136.0		885	-3.9	0.8	15	dbSNP_107	136	56,8530	35.9+/-90.5	0,56,4237	no	coding-synonymous	CHRNB4	NM_000750.3		24,443,6022	AA,AG,GG		0.6522,9.9044,3.7833		295/499	78921762	491,12487	2196	4293	6489	SO:0001819	synonymous_variant	1143	exon5			CTTGCCGATGAGA	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.885C>T	15.37:g.78921762G>A		237	3		237	9	NM_000750	0	0	0	0	0	A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	CCDS10306.1																																																																																			G|0.962;A|0.038		0.567	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1		
ADAMTS7	11173	hgsc.bcm.edu	37	15	79051801	79051801	+	Missense_Mutation	SNP	C	C	A	rs201472223		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr15:79051801C>A	ENST00000388820.4	-	24	5233	c.5023G>T	c.(5023-5025)Gcc>Tcc	p.A1675S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1675					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGGGAGGGGGCGCCGTGGCTG	0.721																																					p.A1675S		.											.	ADAMTS7-226	0			c.G5023T						.						7.0	9.0	9.0					15																	79051801		2082	4133	6215	SO:0001583	missense	11173	exon24			AGGGGGCGCCGTG	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.5023G>T	15.37:g.79051801C>A	ENSP00000373472:p.Ala1675Ser	0	0		25	8	NM_014272	0	0	5	5	0	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	1.406	-0.576936	0.03854	.	.	ENSG00000136378	ENST00000388820	T	0.59502	0.26	2.92	0.947	0.19555	.	2.418420	0.02155	U	0.058341	T	0.39627	0.1085	N	0.19112	0.55	0.09310	N	1	B	0.25007	0.116	B	0.23150	0.044	T	0.16600	-1.0397	10	0.09590	T	0.72	.	6.0212	0.19630	0.0:0.7622:0.0:0.2378	.	1675	Q9UKP4	ATS7_HUMAN	S	1675	ENSP00000373472:A1675S	ENSP00000373472:A1675S	A	-	1	0	ADAMTS7	76838856	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.624000	0.24462	0.111000	0.17947	-2.153000	0.00332	GCC	.		0.721	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
ADAMTS7	11173	ucsc.edu	37	15	79089111	79089111	+	Missense_Mutation	SNP	A	A	G	rs3825807	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr15:79089111A>G	ENST00000388820.4	-	4	850	c.640T>C	c.(640-642)Tct>Cct	p.S214P	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	214			S -> P (in dbSNP:rs3825807).		cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						tcccgtcgAGACTCCAGCTCT	0.657													G|||	1253	0.2502	0.1112	0.2968	5008	,	,		14046	0.1518		0.4274	False		,,,				2504	0.3241				p.S214P		.											.	ADAMTS7-226	0			c.T640C						.	G	PRO/SER	678,3714		57,564,1575	22.0	21.0	22.0	http://www.ncbi.nlm.nih.gov/pubmed?term	640	-9.0	0.0	15	dbSNP_107	22	3816,4762		878,2060,1351	yes	missense	ADAMTS7	NM_014272.3	74	935,2624,2926	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	44.4859,15.4372,34.6492	benign	214/1687	79089111	4494,8476	2196	4289	6485	SO:0001583	missense	11173	exon4			GTCGAGACTCCAG	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.640T>C	15.37:g.79089111A>G	ENSP00000373472:p.Ser214Pro	10	0		50	12	NM_014272	0	0	0	0	0	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	584	0.2673992673992674	63	0.12804878048780488	123	0.3397790055248619	77	0.1346153846153846	321	0.4234828496042216	G	12.54	1.968180	0.34754	0.154372	0.444859	ENSG00000136378	ENST00000388820;ENST00000456326	T	0.60920	0.15	5.11	-8.98	0.00754	.	0.967066	0.08499	N	0.936716	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.40384	-0.9566	9	0.30078	T	0.28	.	2.7518	0.05283	0.5523:0.0989:0.1616:0.1872	rs3825807;rs57075956;rs3825807	214;214;214	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	P	214	ENSP00000373472:S214P	ENSP00000373472:S214P	S	-	1	0	ADAMTS7	76876166	0.000000	0.05858	0.000000	0.03702	0.354000	0.29330	-1.471000	0.02344	-1.596000	0.01611	-1.382000	0.01172	TCT	A|0.704;G|0.296		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707|rs111725167|rs68056278	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)agctccaac>aac	p.SS69del	FAM174B_ENST00000555696.1_5'Flank|FAM174B_ENST00000555748.1_5'Flank	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714														4884	0.97524	0.9092	0.9942	5008	,	,		6551	1.0		1.0	False		,,,				2504	1.0				p.69_71del		.											.	FAM174B-90	0			c.206_211del						.			1931,417		927,77,170						2.2	1.0		dbSNP_130	8	5234,70		2614,6,32	no	coding	FAM174B	NM_207446.2		3541,83,202	A1A1,A1R,RR		1.3198,17.7598,6.3643				7165,487				SO:0001651	inframe_deletion	400451	exon1			TGCTGTTGGAGCT		CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.206_211delGCTCCA	15.37:g.93198685_93198690delTGGAGC	ENSP00000329040:p.Ser69_Ser70del	21	0		89	49	NM_207446	0	0	0	0	0	Q3ZCR9|Q8NBH7	In_Frame_Del	DEL	ENST00000327355.5	37	CCDS45355.1																																																																																			.		0.714	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446	
MRPS34	65993	hgsc.bcm.edu	37	16	1823054	1823054	+	Missense_Mutation	SNP	C	C	G	rs11552432	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr16:1823054C>G	ENST00000397375.2	-	1	102	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000177742.3_Missense_Mutation_p.E23Q|EME2_ENST00000568449.1_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_5'Flank	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	23						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|skin(2)	3						TTCAGTTGCTCCCGCAGGGCG	0.741													C|||	53	0.0105831	0.0008	0.013	5008	,	,		11975	0.0		0.0348	False		,,,				2504	0.0082				p.E23Q		.											.	MRPS34-92	0			c.G67C						.	C	GLN/GLU	11,3021		0,11,1505	2.0	3.0	3.0		67	3.7	1.0	16	dbSNP_120	3	113,6393		0,113,3140	yes	missense	MRPS34	NM_023936.1	29	0,124,4645	GG,GC,CC		1.7369,0.3628,1.3001	probably-damaging	23/219	1823054	124,9414	1516	3253	4769	SO:0001583	missense	65993	exon1			GTTGCTCCCGCAG	BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071		"""Mitochondrial ribosomal proteins / small subunits"""	16618	protein-coding gene	gene with protein product		611994					Standard	NM_023936		Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000397375.2:c.67G>C	16.37:g.1823054C>G	ENSP00000380531:p.Glu23Gln	1	0		12	6	NM_023936	0	0	3	7	4	Q9BVI7	Missense_Mutation	SNP	ENST00000397375.2	37	CCDS10444.1	30	0.013736263736263736	1	0.0020325203252032522	8	0.022099447513812154	0	0.0	21	0.027704485488126648	C	24.7	4.555305	0.86231	0.003628	0.017369	ENSG00000074071	ENST00000397375;ENST00000177742	T;T	0.54071	0.59;0.59	3.72	3.72	0.42706	.	0.056147	0.64402	D	0.000002	T	0.42921	0.1224	L	0.58101	1.795	0.58432	D	0.999991	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.964	T	0.63287	-0.6671	10	0.66056	D	0.02	-0.3848	14.2401	0.65952	0.0:1.0:0.0:0.0	rs11552432	23;23	C9JJ19;P82930	.;RT34_HUMAN	Q	23	ENSP00000380531:E23Q;ENSP00000177742:E23Q	ENSP00000177742:E23Q	E	-	1	0	MRPS34	1763055	0.998000	0.40836	0.996000	0.52242	0.482000	0.33219	3.988000	0.56951	1.891000	0.54761	0.591000	0.81541	GAG	C|0.014;G|0.986		0.741	MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250506.1	NM_023936	
EME2	197342	hgsc.bcm.edu	37	16	1823444	1823444	+	Silent	SNP	C	C	G	rs761065	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_Silent_p.V72V	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4.0	5.0	5.0		216	-5.9	0.0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		0	0		6	5	NM_001257370	0	0	0	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865	
ZNF598	90850	hgsc.bcm.edu	37	16	2049849	2049849	+	Silent	SNP	T	T	C	rs12149722	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr16:2049849T>C	ENST00000563630.1	-	9	1778	c.1536A>G	c.(1534-1536)acA>acG	p.T512T	ZNF598_ENST00000431526.1_Silent_p.T567T|ZNF598_ENST00000562103.1_Silent_p.T512T|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	567							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGTGGGGCGTGTGCTCAGAA	0.672													T|||	631	0.125998	0.0061	0.2147	5008	,	,		14610	0.0456		0.1829	False		,,,				2504	0.2495				p.T567T		.											.	ZNF598-432	0			c.A1701G						.	T		125,3761		6,113,1824	11.0	14.0	13.0		1703	-5.3	0.0	16	dbSNP_120	13	1390,6838		115,1160,2839	no	coding-synonymous	ZNF598	NM_178167.2		121,1273,4663	CC,CT,TT		16.8935,3.2167,12.5062		567/905	2049849	1515,10599	1943	4114	6057	SO:0001819	synonymous_variant	90850	exon11			GGGGCGTGTGCTC	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1536A>G	16.37:g.2049849T>C		0	0		6	4	NM_178167	0	0	8	23	15	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37																																																																																				T|0.897;C|0.103		0.672	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167	
MTHFSD	64779	bcgsc.ca	37	16	86575737	86575737	+	Silent	SNP	C	C	T	rs3829533	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr16:86575737C>T	ENST00000360900.6	-	6	550	c.525G>A	c.(523-525)acG>acA	p.T175T	MTHFSD_ENST00000381214.5_Silent_p.T175T|MTHFSD_ENST00000546093.1_Silent_p.T12T|MTHFSD_ENST00000543303.2_Silent_p.T174T|MTHFSD_ENST00000322911.6_Silent_p.T174T	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	175							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TGACCACCGGCGTCTCCTTGC	0.582													C|||	586	0.117013	0.0083	0.1124	5008	,	,		19635	0.1617		0.1074	False		,,,				2504	0.2311				p.T175T		.											.	MTHFSD-90	0			c.G525A						.	C	,,,,	94,3988		0,94,1947	68.0	70.0	69.0		525,525,522,465,522	-0.3	0.9	16	dbSNP_107	69	824,7558		48,728,3415	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MTHFSD	NM_001159377.1,NM_001159378.1,NM_001159379.1,NM_001159380.1,NM_022764.2	,,,,	48,822,5362	TT,TC,CC		9.8306,2.3028,7.3652	,,,,	175/384,175/384,174/383,155/364,174/383	86575737	918,11546	2041	4191	6232	SO:0001819	synonymous_variant	64779	exon6			CACCGGCGTCTCC	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.525G>A	16.37:g.86575737C>T		108	0		167	7	NM_001159377	0	0	10	10	0	A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Silent	SNP	ENST00000360900.6	37	CCDS54047.1																																																																																			C|0.895;T|0.105		0.582	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764	
ZNF469	84627	broad.mit.edu	37	16	88494947	88494947	+	Missense_Mutation	SNP	T	T	C	rs11648572	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr16:88494947T>C	ENST00000437464.1	+	1	1069	c.1069T>C	c.(1069-1071)Tcc>Ccc	p.S357P	ZNF469_ENST00000565624.1_Missense_Mutation_p.S357P	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	357	Pro-rich.		S -> P (in dbSNP:rs11648572).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						TGCCCTCTCTTCCCCTGGAGC	0.642													C|||	4953	0.989018	0.9947	0.9827	5008	,	,		13603	1.0		0.9682	False		,,,				2504	0.9959				p.S357P		.											.	.	0			c.T1069C						.						4.0	5.0	4.0					16																	88494947		661	1527	2188	SO:0001583	missense	84627	exon1			CTCTCTTCCCCTG	AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.1069T>C	16.37:g.88494947T>C	ENSP00000402343:p.Ser357Pro	52	1		196	7	NM_001127464	0	0	0	0	0		Missense_Mutation	SNP	ENST00000437464.1	37	CCDS45544.1	2147	0.983058608058608	489	0.9939024390243902	357	0.9861878453038674	571	0.9982517482517482	730	0.9630606860158312	C	0.634	-0.816136	0.02776	.	.	ENSG00000225614	ENST00000437464	T	0.06449	3.3	4.6	-0.624	0.11552	.	.	.	.	.	T	0.00012	0.0000	N	0.04508	-0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.12708	-1.0537	8	0.16420	T	0.52	.	4.3808	0.11293	0.0:0.2196:0.3371:0.4432	rs11648572	357	Q96JG9	ZN469_HUMAN	P	357	ENSP00000402343:S357P	ENSP00000402343:S357P	S	+	1	0	ZNF469	87022448	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.443000	0.06862	-0.226000	0.09899	-1.473000	0.01005	TCC	T|0.018;C|0.982		0.642	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
ZNF469	84627	broad.mit.edu	37	16	88494976	88494976	+	Missense_Mutation	SNP	A	A	C	rs11640794	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr16:88494976A>C	ENST00000437464.1	+	1	1098	c.1098A>C	c.(1096-1098)agA>agC	p.R366S	ZNF469_ENST00000565624.1_Missense_Mutation_p.R366S	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	366	Pro-rich.		R -> S (in dbSNP:rs11640794).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CGGCCCCGAGACCCTTCTCTG	0.637													A|||	4282	0.855032	0.5991	0.9424	5008	,	,		14149	0.9147		0.9453	False		,,,				2504	0.9847				p.R366S		.											.	.	0			c.A1098C						.						5.0	6.0	6.0					16																	88494976		667	1544	2211	SO:0001583	missense	84627	exon1			CCCGAGACCCTTC	AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.1098A>C	16.37:g.88494976A>C	ENSP00000402343:p.Arg366Ser	75	1		221	8	NM_001127464	0	0	0	0	0		Missense_Mutation	SNP	ENST00000437464.1	37	CCDS45544.1	1869	0.8557692307692307	293	0.5955284552845529	342	0.9447513812154696	520	0.9090909090909091	714	0.941952506596306	A	3.854	-0.031218	0.07543	.	.	ENSG00000225614	ENST00000437464	T	0.04502	3.61	4.6	0.792	0.18625	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.999999999946489E-6	B	0.10296	0.003	B	0.01281	0.0	T	0.31641	-0.9936	8	0.02654	T	1	.	4.2752	0.10806	0.163:0.5853:0.1471:0.1046	rs11640794;rs52802024;rs57771670;rs11640794	366	Q96JG9	ZN469_HUMAN	S	366	ENSP00000402343:R366S	ENSP00000402343:R366S	R	+	3	2	ZNF469	87022477	0.925000	0.31364	0.657000	0.29651	0.285000	0.27093	0.562000	0.23531	0.325000	0.23359	-0.648000	0.03929	AGA	A|0.169;C|0.831		0.637	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
ZNF469	84627	hgsc.bcm.edu	37	16	88497394	88497394	+	Silent	SNP	T	T	C	rs111557381	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr16:88497394T>C	ENST00000437464.1	+	2	3432	c.3432T>C	c.(3430-3432)cgT>cgC	p.R1144R	ZNF469_ENST00000565624.1_Silent_p.R1172R	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	1144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CTCAGGCCCGTGGCCCGTCTC	0.766													T|||	191	0.038139	0.0514	0.0346	5008	,	,		9815	0.003		0.0467	False		,,,				2504	0.0501				p.R1144R		.											.	.	0			c.T3432C						.						4.0	6.0	5.0					16																	88497394		635	1484	2119	SO:0001819	synonymous_variant	84627	exon2			GGCCCGTGGCCCG	AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.3432T>C	16.37:g.88497394T>C		0	0		9	9	NM_001127464	0	0	0	0	0		Silent	SNP	ENST00000437464.1	37	CCDS45544.1																																																																																			T|0.962;C|0.038		0.766	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
ZC3H18	124245	broad.mit.edu	37	16	88677692	88677693	+	Frame_Shift_Del	DEL	GA	GA	-	rs145094173		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr16:88677692_88677693delGA	ENST00000301011.5	+	8	1423_1424	c.1223_1224delGA	c.(1222-1224)cgafs	p.R408fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.R432fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	408						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		gagcgggagcgagagagagaga	0.644																																					p.408_408del	Ovarian(121;375 2276 20373 38669)	.											.	ZC3H18-69	0			c.1223_1224del						.																																			SO:0001589	frameshift_variant	124245	exon8			GGGAGCGAGAGAG	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1223_1224delGA	16.37:g.88677702_88677703delGA	ENSP00000301011:p.Arg408fs	114	0		199	7	NM_144604	0	0	0	0	0	Q96DG4|Q96MP7	Frame_Shift_Del	DEL	ENST00000301011.5	37	CCDS10967.1																																																																																			.		0.644	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	
KDM6B	23135	broad.mit.edu	37	17	7752795	7752795	+	Silent	SNP	A	A	C	rs369052495		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:7752795A>C	ENST00000448097.2	+	11	3520	c.3189A>C	c.(3187-3189)acA>acC	p.T1063T	KDM6B_ENST00000254846.5_Silent_p.T1063T			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1063	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCAGCCCACACCCCCGTCAG	0.672																																					p.T1063T		.											.	KDM6B-205	0			c.A3189C						.						15.0	16.0	15.0					17																	7752795		2180	4265	6445	SO:0001819	synonymous_variant	23135	exon11			GCCCACACCCCCG	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3189A>C	17.37:g.7752795A>C		30	0		67	7	NM_001080424	0	0	5	5	0	C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	37																																																																																				.		0.672	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272	
ACACA	31	bcgsc.ca	37	17	35609866	35609866	+	Silent	SNP	C	C	T	rs2229416	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:35609866C>T	ENST00000394406.2	-	15	2002	c.1812G>A	c.(1810-1812)caG>caA	p.Q604Q	ACACA_ENST00000360679.3_Silent_p.Q546Q|ACACA_ENST00000353139.5_Silent_p.Q641Q|ACACA_ENST00000335166.5_Silent_p.Q526Q	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	604	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTGTTCATCTGAAAGCTTT	0.423													C|||	1101	0.219848	0.0227	0.1412	5008	,	,		18528	0.4534		0.1561	False		,,,				2504	0.3671				p.Q641Q	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	.											.	ACACA-154	0			c.G1923A						.	C	,,,,	169,4237	111.6+/-149.8	2,165,2036	173.0	173.0	173.0		1923,1812,1638,1578,1812	4.1	1.0	17	dbSNP_98	173	1096,7504	228.7+/-263.7	60,976,3264	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ACACA	NM_198834.1,NM_198836.1,NM_198837.1,NM_198838.1,NM_198839.1	,,,,	62,1141,5300	TT,TC,CC		12.7442,3.8357,9.7263	,,,,	641/2384,604/2347,546/2289,526/2269,604/2347	35609866	1265,11741	2203	4300	6503	SO:0001819	synonymous_variant	31	exon15			GTTCATCTGAAAG	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1812G>A	17.37:g.35609866C>T		65	0		76	5	NM_198834	0	0	0	0	0	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	CCDS11317.1																																																																																			T|0.139;C|0.861		0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
KRTAP4-8	728224	hgsc.bcm.edu	37	17	39254013	39254013	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:39254013G>C	ENST00000333822.4	-	1	380	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	108	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S108R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcttgcagcagctggacacac	0.662																																					p.S108R		.											.	.	1	Substitution - Missense(1)	lung(1)	c.C324G						.						4.0	6.0	6.0					17																	39254013		638	1500	2138	SO:0001583	missense	728224	exon1			GCAGCAGCTGGAC	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.324C>G	17.37:g.39254013G>C	ENSP00000328444:p.Ser108Arg	18	0		123	22	NM_031960	0	0	0	0	0	A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.264696	0.59431	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.00646	6.0	3.21	1.14	0.20703	.	2.295710	0.03395	U	0.202429	T	0.01695	0.0054	M	0.89287	3.02	0.27072	N	0.963304	B	0.34349	0.45	B	0.34093	0.175	T	0.47195	-0.9136	10	0.52906	T	0.07	.	5.4866	0.16753	0.2737:0.0:0.7263:0.0	.	108	Q9BYQ9	KRA48_HUMAN	R	108;93	ENSP00000328444:S108R	ENSP00000414561:S93R	S	-	3	2	KRTAP4-8	36507539	1.000000	0.71417	0.752000	0.31206	0.989000	0.77384	3.228000	0.51270	0.201000	0.20466	0.449000	0.29647	AGC	.		0.662	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960	
KRTAP4-11	653240	broad.mit.edu;bcgsc.ca	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																					p.L161V		.											.	.	1	Substitution - Missense(1)	prostate(1)	c.C481G						.						17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240	exon1			GACGCAGGCAGCA	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val	82	0		190	37	NM_033059	0	0	0	0	0	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG	G|0.500;C|0.500		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
KRTAP4-11	653240	ucsc.edu	37	17	39274157	39274157	+	Silent	SNP	G	G	A	rs145503152		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:39274157G>A	ENST00000391413.2	-	1	449	c.411C>T	c.(409-411)ccC>ccT	p.P137P		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	137	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.P137P(3)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tgctgcagctggggtggcagc	0.672																																					p.P137P		.											.	.	3	Substitution - coding silent(3)	prostate(1)|lung(1)|endometrium(1)	c.C411T						.						8.0	13.0	12.0					17																	39274157		684	1586	2270	SO:0001819	synonymous_variant	653240	exon1			GCAGCTGGGGTGG	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.411C>T	17.37:g.39274157G>A		16	2		222	87	NM_033059	0	0	0	0	0	A0AUY2	Silent	SNP	ENST00000391413.2	37	CCDS45675.1																																																																																			G|0.500;A|0.500		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
KRTAP4-11	653240	hgsc.bcm.edu	37	17	39274238	39274238	+	Silent	SNP	A	A	G			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:39274238A>G	ENST00000391413.2	-	1	368	c.330T>C	c.(328-330)tgT>tgC	p.C110C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	110	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agctggggcgacagcagctgg	0.652																																					p.C110C		.											.	.	0			c.T330C						.						5.0	9.0	8.0					17																	39274238		657	1550	2207	SO:0001819	synonymous_variant	653240	exon1			GGGGCGACAGCAG	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.330T>C	17.37:g.39274238A>G		22	0		135	10	NM_033059	0	0	0	0	0	A0AUY2	Silent	SNP	ENST00000391413.2	37	CCDS45675.1																																																																																			.		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
BPTF	2186	hgsc.bcm.edu	37	17	65955758	65955758	+	Silent	SNP	T	T	C	rs139709271|rs202116659		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:65955758T>C	ENST00000321892.4	+	26	8467	c.8406T>C	c.(8404-8406)gcT>gcC	p.A2802A	BPTF_ENST00000424123.3_Silent_p.A2520A|BPTF_ENST00000306378.6_Silent_p.A2676A|BPTF_ENST00000335221.5_Silent_p.A2659A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2802	Pro-rich.			AP -> VL (in Ref. 1; BAA89208). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A2676A(1)|p.A2659A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGACAccagctcctccagccc	0.582																																					p.A2676A		.											.	BPTF-94	2	Substitution - coding silent(2)	large_intestine(2)	c.T8028C						.						40.0	33.0	36.0					17																	65955758		2203	4300	6503	SO:0001819	synonymous_variant	2186	exon24			ACCAGCTCCTCCA	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8406T>C	17.37:g.65955758T>C		63	0		50	9	NM_182641	0	0	7	7	0	Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37																																																																																				.		0.582	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
TMC6	11322	bcgsc.ca	37	17	76121864	76121864	+	Missense_Mutation	SNP	A	A	G	rs2748427	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:76121864A>G	ENST00000590602.1	-	5	532	c.373T>C	c.(373-375)Tgg>Cgg	p.W125R	TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000322914.3_Missense_Mutation_p.W125R|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000306591.7_Missense_Mutation_p.W125R|TMC6_ENST00000589553.1_5'UTR|TMC6_ENST00000392467.3_Missense_Mutation_p.W125R			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	125			W -> R (in dbSNP:rs2748427). {ECO:0000269|PubMed:12426567}.		ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGGCTGGGCCAGGCGGAGCGG	0.692													g|||	1677	0.334864	0.5227	0.2205	5008	,	,		15563	0.2907		0.2127	False		,,,				2504	0.3333				p.W125R		.											.	TMC6-90	0			c.T373C						.	G	ARG/TRP,ARG/TRP	1833,2473		400,1033,720	19.0	21.0	20.0		373,373	4.0	1.0	17	dbSNP_100	20	1664,6830		167,1330,2750	yes	missense,missense	TMC6	NM_001127198.1,NM_007267.6	101,101	567,2363,3470	GG,GA,AA		19.5903,42.5685,27.3203	benign,benign	125/806,125/806	76121864	3497,9303	2153	4247	6400	SO:0001583	missense	11322	exon5			TGGGCCAGGCGGA	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.373T>C	17.37:g.76121864A>G	ENSP00000465261:p.Trp125Arg	8	0		147	109	NM_001127198	0	0	1	1	0	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	CCDS32748.1	622	0.2847985347985348	250	0.508130081300813	84	0.23204419889502761	139	0.243006993006993	149	0.19656992084432717	g	0.022	-1.411136	0.01145	0.425685	0.195903	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.40476	1.03;1.03;1.03	4.02	4.02	0.46733	.	.	.	.	.	T	0.00012	0.0000	N	0.00112	-2.095	0.09310	P	1.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47315	-0.9127	8	0.02654	T	1	-21.6129	6.839	0.23953	0.0925:0.0:0.7353:0.1721	rs2748427;rs3751960;rs57302399	125;125	Q7Z403-2;Q7Z403	.;TMC6_HUMAN	R	125	ENSP00000313408:W125R;ENSP00000376260:W125R;ENSP00000306405:W125R	ENSP00000306405:W125R	W	-	1	0	TMC6	73633459	1.000000	0.71417	0.996000	0.52242	0.110000	0.19582	2.022000	0.41030	0.695000	0.31675	-0.224000	0.12420	TGG	A|0.702;G|0.298		0.692	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1		
CBX4	8535	hgsc.bcm.edu	37	17	77808133	77808133	+	Silent	SNP	G	G	A	rs62075209	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:77808133G>A	ENST00000269397.4	-	5	1485	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	436	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCAGGCAGGTGGGGGTGCTGA	0.721													G|||	18	0.00359425	0.0	0.0058	5008	,	,		9233	0.0		0.0099	False		,,,				2504	0.0041				p.P436P		.											.	CBX4-228	0			c.C1308T						.	G		2,4016		0,2,2007	4.0	6.0	5.0		1308	1.8	1.0	17	dbSNP_129	5	32,7860		0,32,3914	no	coding-synonymous	CBX4	NM_003655.2		0,34,5921	AA,AG,GG		0.4055,0.0498,0.2855		436/561	77808133	34,11876	2009	3946	5955	SO:0001819	synonymous_variant	8535	exon5			GCAGGTGGGGGTG	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1308C>T	17.37:g.77808133G>A		0	0		5	5	NM_003655	0	0	0	0	0	B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	CCDS32758.1																																																																																			G|0.993;A|0.007		0.721	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655	
MADCAM1	8174	bcgsc.ca	37	19	501701	501701	+	Missense_Mutation	SNP	G	G	A	rs71171990|rs72970252	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:501701G>A	ENST00000215637.3	+	4	746	c.700G>A	c.(700-702)Gac>Aac	p.D234N	MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000587541.1_Missense_Mutation_p.D15N|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	234	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCTCCCGACACCACCTC	0.652																																					p.D234N		.											.	MADCAM1-90	0			c.G700A						.						31.0	45.0	40.0					19																	501701		2203	4299	6502	SO:0001583	missense	8174	exon4			CCTCCCGACACCA	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.700G>A	19.37:g.501701G>A	ENSP00000215637:p.Asp234Asn	97	0		153	10	NM_130760	0	0	0	0	0	A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	308	0.14102564102564102	38	0.07723577235772358	55	0.15193370165745856	90	0.15734265734265734	125	0.16490765171503957	g	8.795	0.931415	0.18131	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.10382	2.88	4.28	-4.55	0.03441	.	3.221950	0.01471	N	0.016293	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.37641	-0.9697	9	0.13853	T	0.58	.	12.1068	0.53818	0.7972:0.0:0.2028:0.0	.	234	Q13477	MADCA_HUMAN	N	258;250;242;234	ENSP00000215637:D234N	ENSP00000215637:D234N	D	+	1	0	MADCAM1	452701	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.470000	0.06639	-0.806000	0.04398	-0.199000	0.12753	GAC	G|0.879;A|0.121		0.652	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760	
ABHD17A	81926	hgsc.bcm.edu	37	19	1881488	1881488	+	Silent	SNP	G	G	A	rs200425255	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:1881488G>A	ENST00000292577.7	-	2	511	c.78C>T	c.(76-78)ctC>ctT	p.L26L	ABHD17A_ENST00000250974.9_Silent_p.L26L|ABHD17A_ENST00000590661.1_Silent_p.L26L	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	26						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GCAGGAAGGCGAGCTTGGCAG	0.751													g|||	2	0.000399361	0.0008	0.0	5008	,	,		13018	0.0		0.001	False		,,,				2504	0.0				p.L26L		.											.	FAM108A1-90	0			c.C78T						.	G	,	1,3823		0,1,1911	10.0	14.0	13.0		78,78	1.3	1.0	19		13	11,7877		0,11,3933	no	coding-synonymous,coding-synonymous	FAM108A1	NM_001130111.1,NM_031213.3	,	0,12,5844	AA,AG,GG		0.1395,0.0262,0.1025	,	26/311,26/362	1881488	12,11700	1912	3944	5856	SO:0001819	synonymous_variant	81926	exon2			GAAGGCGAGCTTG	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.78C>T	19.37:g.1881488G>A		0	0		11	7	NM_031213	0	0	8	25	17	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																			G|0.999;A|0.001		0.751	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213	
LINGO3	645191	hgsc.bcm.edu	37	19	2291501	2291501	+	Missense_Mutation	SNP	T	T	A	rs201142184	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:2291501T>A	ENST00000585527.1	-	1	522	c.275A>T	c.(274-276)cAc>cTc	p.H92L	LINGO3_ENST00000404279.1_Missense_Mutation_p.H92L			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	92						integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						GGGCTCCACGTGCGCGATGGC	0.726													T|||	7	0.00139776	0.0	0.0058	5008	,	,		10848	0.0		0.003	False		,,,				2504	0.0				p.H92L		.											.	.	0			c.A275T						.	T	LEU/HIS	10,4248		0,10,2119	20.0	23.0	22.0		275	4.1	1.0	19		22	69,8361		0,69,4146	no	missense	LINGO3	NM_001101391.1	99	0,79,6265	AA,AT,TT		0.8185,0.2349,0.6226	benign	92/593	2291501	79,12609	2129	4215	6344	SO:0001583	missense	645191	exon2			TCCACGTGCGCGA	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"""Immunoglobulin superfamily / I-set domain containing"""	21206	protein-coding gene	gene with protein product		609792	"""leucine rich repeat neuronal 6B"""	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.275A>T	19.37:g.2291501T>A	ENSP00000467753:p.His92Leu	0	0		47	38	NM_001101391	0	0	0	0	0		Missense_Mutation	SNP	ENST00000585527.1	37	CCDS45905.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	t	7.646	0.681824	0.14907	0.002349	0.008185	ENSG00000220008	ENST00000404279	T	0.57436	0.4	4.05	4.05	0.47172	.	.	.	.	.	T	0.24314	0.0589	N	0.10945	0.07	0.26948	N	0.966094	B	0.15473	0.013	B	0.14578	0.011	T	0.11916	-1.0568	9	0.31617	T	0.26	.	8.7153	0.34408	0.0:0.0:0.1921:0.8079	.	92	P0C6S8	LIGO3_HUMAN	L	92	ENSP00000384979:H92L	ENSP00000384979:H92L	H	-	2	0	LINGO3	2242501	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.406000	0.21032	1.456000	0.47831	0.379000	0.24179	CAC	T|0.998;A|0.002		0.726	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2	NM_001101391	
PTPRS	5802	hgsc.bcm.edu	37	19	5222831	5222831	+	Missense_Mutation	SNP	G	G	A	rs2230610	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:5222831G>A	ENST00000587303.1	-	17	3071	c.2972C>T	c.(2971-2973)gCg>gTg	p.A991V	PTPRS_ENST00000262963.6_Missense_Mutation_p.A987V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A992V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A969V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A969V|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000357368.4_Missense_Mutation_p.A991V|PTPRS_ENST00000588552.1_Intron			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	991	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CGCGTTCTCCGCGCCCGGCTC	0.736													G|||	35	0.00698882	0.0	0.0058	5008	,	,		8299	0.0		0.0298	False		,,,				2504	0.001				p.A991V		.											.	PTPRS-357	0			c.C2972T						.	G	VAL/ALA,,VAL/ALA,	18,4126		0,18,2054	10.0	14.0	13.0		2972,,2906,	3.5	1.0	19	dbSNP_98	13	223,7773		3,217,3778	yes	missense,intron,missense,intron	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	64,,64,	3,235,5832	AA,AG,GG		2.7889,0.4344,1.9852	benign,,benign,	991/1949,,969/1911,	5222831	241,11899	2072	3998	6070	SO:0001583	missense	5802	exon18			TTCTCCGCGCCCG	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2972C>T	19.37:g.5222831G>A	ENSP00000467537:p.Ala991Val	0	0		7	6	NM_002850	1	0	0	3	2	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	33	0.01510989010989011	0	0.0	6	0.016574585635359115	0	0.0	27	0.03562005277044855	G	13.79	2.342295	0.41498	0.004344	0.027889	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	3.47	3.47	0.39725	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.085994	0.47093	U	0.000244	T	0.35856	0.0946	M	0.65498	2.005	0.80722	D	1	D;P	0.76494	0.999;0.663	D;B	0.71184	0.972;0.196	T	0.55585	-0.8118	10	0.25751	T	0.34	.	16.2373	0.82384	0.0:0.0:1.0:0.0	rs2230610	969;991	Q13332-6;Q13332	.;PTPRS_HUMAN	V	992;991;991;982;987;969	ENSP00000361489:A992V;ENSP00000349932:A991V;ENSP00000262963:A987V;ENSP00000269907:A969V	ENSP00000262963:A987V	A	-	2	0	PTPRS	5173831	0.995000	0.38212	1.000000	0.80357	0.237000	0.25408	2.558000	0.45879	2.257000	0.74773	0.557000	0.71058	GCG	G|0.979;A|0.021		0.736	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
CAMSAP3	57662	bcgsc.ca	37	19	7675369	7675369	+	Silent	SNP	C	C	T	rs62113420	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:7675369C>T	ENST00000160298.4	+	6	869	c.768C>T	c.(766-768)tgC>tgT	p.C256C	CAMSAP3_ENST00000446248.2_Silent_p.C283C	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	256	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CAGAGGTGTGCTTGAAGGACC	0.632													C|||	371	0.0740815	0.0862	0.0994	5008	,	,		14322	0.002		0.161	False		,,,				2504	0.0245				p.C283C		.											.	.	0			c.C849T						.	C	,	310,3818		16,278,1770	87.0	96.0	93.0		849,768	4.3	1.0	19	dbSNP_129	93	1141,7251		65,1011,3120	no	coding-synonymous,coding-synonymous	CAMSAP3	NM_001080429.2,NM_020902.1	,	81,1289,4890	TT,TC,CC		13.5963,7.5097,11.5895	,	283/1277,256/1250	7675369	1451,11069	2064	4196	6260	SO:0001819	synonymous_variant	57662	exon8			GGTGTGCTTGAAG	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.768C>T	19.37:g.7675369C>T		40	0		48	4	NM_001080429	0	0	0	0	0	Q8NDF1	Silent	SNP	ENST00000160298.4	37	CCDS42489.1																																																																																			C|0.897;T|0.103		0.632	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362	
ZNF414	84330	hgsc.bcm.edu	37	19	8576670	8576670	+	Silent	SNP	C	C	T	rs7175	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:8576670C>T	ENST00000255616.8	-	5	806	c.705G>A	c.(703-705)ccG>ccA	p.P235P	ZNF414_ENST00000393927.4_Silent_p.P235P	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						GCAGCGGGAACGGCAGGCCCG	0.771													C|||	1010	0.201677	0.2897	0.1686	5008	,	,		8403	0.1746		0.1988	False		,,,				2504	0.137				p.P235P		.											.	ZNF414-90	0			c.G705A						.	C	,	887,3039		132,623,1208	4.0	6.0	5.0		705,705	-2.0	0.0	19	dbSNP_52	5	1238,6388		127,984,2702	no	coding-synonymous,coding-synonymous	ZNF414	NM_001146175.1,NM_032370.2	,	259,1607,3910	TT,TC,CC		16.2339,22.593,18.3951	,	235/391,235/313	8576670	2125,9427	1963	3813	5776	SO:0001819	synonymous_variant	84330	exon5			CGGGAACGGCAGG	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.705G>A	19.37:g.8576670C>T		0	0		23	21	NM_032370	0	0	0	3	3	A8MY94	Silent	SNP	ENST00000255616.8	37	CCDS12205.1																																																																																			C|0.788;T|0.212		0.771	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370	
CCDC105	126402	hgsc.bcm.edu	37	19	15133926	15133926	+	Missense_Mutation	SNP	C	C	A	rs8112667	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:15133926C>A	ENST00000292574.3	+	7	1577	c.1495C>A	c.(1495-1497)Ccc>Acc	p.P499T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	499			P -> T (in dbSNP:rs8112667).			extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CAGCGCGGACCCCTAGTGACC	0.716													c|||	1705	0.340455	0.1929	0.438	5008	,	,		11943	0.5208		0.2326	False		,,,				2504	0.3957				p.P499T		.											.	CCDC105-91	0			c.C1495A						.		THR/PRO	868,3356		95,678,1339	7.0	9.0	8.0		1495	-6.6	0.0	19	dbSNP_116	8	1799,6519		206,1387,2566	yes	missense	CCDC105	NM_173482.2	38	301,2065,3905	AA,AC,CC		21.6278,20.5492,21.2646	benign	499/500	15133926	2667,9875	2112	4159	6271	SO:0001583	missense	126402	exon7			GCGGACCCCTAGT	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1495C>A	19.37:g.15133926C>A	ENSP00000292574:p.Pro499Thr	0	0		6	6	NM_173482	0	0	0	0	0	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	718	0.32875457875457875	102	0.2073170731707317	139	0.3839779005524862	297	0.5192307692307693	180	0.23746701846965698	c	12.70	2.017064	0.35606	0.205492	0.216278	ENSG00000160994	ENST00000292574	T	0.15139	2.45	3.29	-6.58	0.01836	.	1.321340	0.05609	N	0.577760	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44528	-0.9322	9	0.87932	D	0	.	0.9387	0.01351	0.3527:0.1586:0.3022:0.1865	rs8112667;rs59368867;rs8112667	499	Q8IYK2	CC105_HUMAN	T	499	ENSP00000292574:P499T	ENSP00000292574:P499T	P	+	1	0	CCDC105	14994926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.281000	0.00528	-1.857000	0.01159	-1.528000	0.00924	CCC	C|0.671;A|0.329		0.716	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482	
OCEL1	79629	hgsc.bcm.edu	37	19	17337555	17337555	+	Silent	SNP	C	C	A	rs3745163	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:17337555C>A	ENST00000215061.4	+	2	167	c.123C>A	c.(121-123)acC>acA	p.T41T	OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Silent_p.T41T|OCEL1_ENST00000597836.1_5'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	41	Pro-rich.									central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CCCGCAGGACCCGCCCATCAG	0.746													C|||	1146	0.228834	0.1702	0.2522	5008	,	,		10081	0.4018		0.2018	False		,,,				2504	0.1411				p.T41T		.											.	OCEL1-68	0			c.C123A						.	C		573,3093		51,471,1311	4.0	6.0	5.0		123	-3.2	0.0	19	dbSNP_107	5	1379,6017		128,1123,2447	no	coding-synonymous	OCEL1	NM_024578.1		179,1594,3758	AA,AC,CC		18.6452,15.6301,17.646		41/265	17337555	1952,9110	1833	3698	5531	SO:0001819	synonymous_variant	79629	exon2			CAGGACCCGCCCA	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.123C>A	19.37:g.17337555C>A		0	0		7	5	NM_024578	0	0	1	12	11		Silent	SNP	ENST00000215061.4	37	CCDS12351.1																																																																																			C|0.734;A|0.266		0.746	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578	
IGFLR1	79713	hgsc.bcm.edu	37	19	36231288	36231288	+	Missense_Mutation	SNP	C	C	T	rs140952221	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:36231288C>T	ENST00000592537.1	-	3	435	c.335G>A	c.(334-336)tGc>tAc	p.C112Y	KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000246532.1_Missense_Mutation_p.C112Y|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000588992.1_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						CACCTCTCTGCAGCGCCACGG	0.736													C|||	33	0.00658946	0.0023	0.0058	5008	,	,		12274	0.0		0.0249	False		,,,				2504	0.001				p.C112Y		.											.	IGFLR1-90	0			c.G335A						.	C	TYR/CYS	26,4172		0,26,2073	10.0	12.0	11.0		335	2.6	0.0	19	dbSNP_134	11	132,8154		0,132,4011	yes	missense	IGFLR1	NM_024660.2	194	0,158,6084	TT,TC,CC		1.593,0.6193,1.2656	probably-damaging	112/356	36231288	158,12326	2099	4143	6242	SO:0001583	missense	79713	exon3			TCTCTGCAGCGCC	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.335G>A	19.37:g.36231288C>T	ENSP00000466181:p.Cys112Tyr	1	0		8	7	NM_024660	0	0	0	0	0	Q8N5X0	Missense_Mutation	SNP	ENST00000592537.1	37	CCDS12472.1	24	0.01098901098901099	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	21	0.027704485488126648	C	21.0	4.077444	0.76528	0.006193	0.01593	ENSG00000126246	ENST00000246532	D	0.92099	-2.97	4.69	2.59	0.31030	.	0.129434	0.51477	D	0.000082	D	0.84547	0.5496	L	0.59436	1.845	0.19775	N	0.999954	D	0.64830	0.994	D	0.64321	0.924	T	0.79381	-0.1827	10	0.87932	D	0	-14.1129	6.4313	0.21798	0.0:0.7844:0.0:0.2156	.	112	Q9H665	IGFR1_HUMAN	Y	112	ENSP00000246532:C112Y	ENSP00000246532:C112Y	C	-	2	0	IGFLR1	40923128	0.000000	0.05858	0.007000	0.13788	0.536000	0.34869	0.824000	0.27379	1.346000	0.45694	0.561000	0.74099	TGC	C|0.989;T|0.011		0.736	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660	
ZNF420	147923	broad.mit.edu	37	19	37618242	37618242	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:37618242A>G	ENST00000337995.3	+	5	564	c.349A>G	c.(349-351)Atg>Gtg	p.M117V	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.M117V|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATATGACAAAATGTCCATTTT	0.383																																					p.M117V		.											.	ZNF420-90	0			c.A349G						.						103.0	102.0	102.0					19																	37618242		2203	4300	6503	SO:0001583	missense	147923	exon5			GACAAAATGTCCA	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.349A>G	19.37:g.37618242A>G	ENSP00000338770:p.Met117Val	212	0		225	4	NM_144689	0	0	1	1	0	B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	0.297	-0.976320	0.02215	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.05996	3.36;3.49	3.77	2.75	0.32379	.	.	.	.	.	T	0.03651	0.0104	N	0.12961	0.28	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.46303	-0.9201	9	0.27785	T	0.31	.	7.1889	0.25814	0.8887:0.0:0.1113:0.0	.	117	Q8TAQ5	ZN420_HUMAN	V	117	ENSP00000306102:M117V;ENSP00000338770:M117V	ENSP00000306102:M117V	M	+	1	0	ZNF420	42310082	0.000000	0.05858	0.892000	0.35008	0.681000	0.39784	0.338000	0.19858	0.616000	0.30141	0.459000	0.35465	ATG	.		0.383	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689	
ZNF285	26974	ucsc.edu	37	19	44891043	44891043	+	Missense_Mutation	SNP	G	G	T	rs77661661		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:44891043G>T	ENST00000330997.4	-	4	1428	c.1364C>A	c.(1363-1365)cCa>cAa	p.P455Q	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.P462Q|ZNF285_ENST00000544719.2_Missense_Mutation_p.P455Q	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P455Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GCATTTGTATGGTTTCTCCCC	0.448																																					p.P455Q		.											.	ZNF285-94	1	Substitution - Missense(1)	skin(1)	c.C1364A						.																																			SO:0001583	missense	26974	exon4			TTGTATGGTTTCT	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1364C>A	19.37:g.44891043G>T	ENSP00000333595:p.Pro455Gln	163	4		183	28	NM_152354	0	0	1	1	0	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224441	0.58668	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.17213	2.29	3.36	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41834	0.1176	M	0.75447	2.3	0.30665	N	0.754012	D;B	0.89917	1.0;0.012	D;B	0.83275	0.996;0.04	T	0.45323	-0.9269	9	0.62326	D	0.03	.	13.918	0.63914	0.0:0.0:1.0:0.0	.	479;455	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Q	478;455	ENSP00000333595:P455Q	ENSP00000333595:P455Q	P	-	2	0	ZNF285	49582883	1.000000	0.71417	0.862000	0.33874	0.982000	0.71751	5.120000	0.64685	1.598000	0.50083	0.298000	0.19748	CCA	.		0.448	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	
SCAF1	58506	hgsc.bcm.edu	37	19	50154607	50154607	+	Missense_Mutation	SNP	C	C	T	rs146455893	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:50154607C>T	ENST00000360565.3	+	7	1085	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	321					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGAGAGCCCCCGCCCGGACGC	0.697																																					p.R321C		.											.	SCAF1-68	0			c.C961T						.	C	CYS/ARG	2,4400		0,2,2199	18.0	19.0	19.0		961	0.7	0.2	19	dbSNP_134	19	5,8591		0,5,4293	no	missense	SCAF1	NM_021228.2	180	0,7,6492	TT,TC,CC		0.0582,0.0454,0.0539	possibly-damaging	321/1313	50154607	7,12991	2201	4298	6499	SO:0001583	missense	58506	exon7			AGCCCCCGCCCGG	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.961C>T	19.37:g.50154607C>T	ENSP00000353769:p.Arg321Cys	1	0		15	11	NM_021228	0	0	2	7	5	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595518	0.46318	4.54E-4	5.82E-4	ENSG00000126461	ENST00000360565	T	0.34275	1.37	4.47	0.683	0.17998	.	1.130880	0.06849	N	0.797016	T	0.19685	0.0473	N	0.08118	0	0.09310	N	0.999999	P	0.44281	0.831	B	0.36186	0.219	T	0.23547	-1.0185	9	.	.	.	-2.8823	14.2469	0.65995	0.0:0.4311:0.5689:0.0	.	321	Q9H7N4	SFR19_HUMAN	C	321	ENSP00000353769:R321C	.	R	+	1	0	SCAF1	54846419	0.000000	0.05858	0.200000	0.23457	0.964000	0.63967	-0.197000	0.09518	0.401000	0.25424	0.591000	0.81541	CGC	A|0.000;C|0.999;T|0.001		0.697	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228	
FAM71E2	284418	hgsc.bcm.edu	37	19	55869899	55869899	+	Silent	SNP	T	T	G	rs386811061|rs67988285|rs67168196	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:55869899T>G	ENST00000424985.3	-	9	2530	c.2337A>C	c.(2335-2337)ccA>ccC	p.P779P	CTD-2105E13.6_ENST00000591954.3_Missense_Mutation_p.H329P	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	779			Missing (in dbSNP:rs35996821). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.							NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						TCTCGCCCCATGGCTGCTCCT	0.632																																					p.P779P		.											.	.	0			c.A2337C						.						13.0	14.0	14.0					19																	55869899		683	1580	2263	SO:0001819	synonymous_variant	284418	exon9			GCCCCATGGCTGC	AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.2337A>C	19.37:g.55869899T>G		30	0		68	5	NM_001145402	0	0	0	0	0	Q8ND99	Silent	SNP	ENST00000424985.3	37																																																																																				.		0.632	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000409063.4	NM_001145402	
FAM71E2	284418	hgsc.bcm.edu	37	19	55869902	55869902	+	Silent	SNP	C	C	T	rs386811061|rs67988285|rs67168196	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:55869902C>T	ENST00000424985.3	-	9	2527	c.2334G>A	c.(2332-2334)caG>caA	p.Q778Q	CTD-2105E13.6_ENST00000591954.3_Missense_Mutation_p.S328N	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	778			Missing (in dbSNP:rs35996821). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.							NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						CGCCCCATGGCTGCTCCTTCA	0.632																																					p.Q778Q		.											.	.	0			c.G2334A						.						14.0	15.0	15.0					19																	55869902		682	1552	2234	SO:0001819	synonymous_variant	284418	exon9			CCATGGCTGCTCC	AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.2334G>A	19.37:g.55869902C>T		28	0		67	5	NM_001145402	0	0	0	0	0	Q8ND99	Silent	SNP	ENST00000424985.3	37																																																																																				.		0.632	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000409063.4	NM_001145402	
NLRP5	126206	bcgsc.ca	37	19	56572875	56572875	+	Missense_Mutation	SNP	G	G	A	rs36118060	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:56572875G>A	ENST00000390649.3	+	15	3584	c.3584G>A	c.(3583-3585)cGg>cAg	p.R1195Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1195			R -> Q (in dbSNP:rs36118060).		cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAAGATGACCGGTACTGGTGG	0.488													G|||	857	0.171126	0.0749	0.1153	5008	,	,		19788	0.3373		0.1342	False		,,,				2504	0.2076				p.R1195Q		.											.	NLRP5-162	0			c.G3584A						.	G	GLN/ARG	289,3569		10,269,1650	149.0	141.0	143.0		3584	-0.0	0.0	19	dbSNP_126	143	1208,7068		92,1024,3022	yes	missense	NLRP5	NM_153447.4	43	102,1293,4672	AA,AG,GG		14.5964,7.4909,12.3372	probably-damaging	1195/1201	56572875	1497,10637	1929	4138	6067	SO:0001583	missense	126206	exon15			ATGACCGGTACTG	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3584G>A	19.37:g.56572875G>A	ENSP00000375063:p.Arg1195Gln	190	2		204	7	NM_153447	0	0	0	0	0	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	372	0.17032967032967034	25	0.0508130081300813	40	0.11049723756906077	205	0.3583916083916084	102	0.1345646437994723	G	14.57	2.575088	0.45902	0.074909	0.145964	ENSG00000171487	ENST00000390649	T	0.72394	-0.65	3.43	-0.0225	0.13947	.	.	.	.	.	T	0.00012	0.0000	L	0.57536	1.79	0.80722	P	0.0	D	0.64830	0.994	P	0.47102	0.537	T	0.11275	-1.0594	8	0.27785	T	0.31	.	3.7389	0.08521	0.2376:0.2052:0.5572:0.0	rs36118060	1195	P59047	NALP5_HUMAN	Q	1195	ENSP00000375063:R1195Q	ENSP00000375063:R1195Q	R	+	2	0	NLRP5	61264687	0.021000	0.18746	0.036000	0.18154	0.927000	0.56198	0.528000	0.23002	0.092000	0.17331	0.655000	0.94253	CGG	G|0.825;A|0.175		0.488	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
ZNF814	730051	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:58385748G>A	ENST00000435989.2	-	3	1244	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	337					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A337V(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353																																					p.A337V		.											.	.	2	Substitution - Missense(2)	prostate(2)	c.C1010T						.						58.0	51.0	53.0					19																	58385748		692	1591	2283	SO:0001583	missense	730051	exon3			AAGCTAGCATATT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1010C>T	19.37:g.58385748G>A	ENSP00000410545:p.Ala337Val	82	1		154	63	NM_001144989	0	0	2	2	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	3.777	-0.046344	0.07407	.	.	ENSG00000204514	ENST00000435989	T	0.15372	2.43	2.11	-4.21	0.03812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.21142	0.635	0.09310	N	1	B	0.32781	0.384	B	0.18561	0.022	T	0.05649	-1.0872	9	0.66056	D	0.02	.	3.5015	0.07674	0.0936:0.1206:0.3016:0.4843	.	337	B7Z6K7	ZN814_HUMAN	V	337	ENSP00000410545:A337V	ENSP00000410545:A337V	A	-	2	0	ZNF814	63077560	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.230000	0.01207	-3.525000	0.00147	-3.867000	0.00017	GCT	.		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF814	730051	ucsc.edu;bcgsc.ca	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																					p.S332S		.											.	.	2	Substitution - coding silent(2)	kidney(2)	c.G996C						.						25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051	exon3			GCTAAACGATTTC		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G		74	2		131	44	NM_001144989	0	0	1	1	0	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
SIX3	6496	hgsc.bcm.edu	37	2	45171842	45171842	+	Silent	SNP	A	A	G	rs338074	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr2:45171842A>G	ENST00000260653.3	+	2	1284	c.942A>G	c.(940-942)gcA>gcG	p.A314A	SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	314					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGGAGCGCGCAGACACCGGCA	0.697													G|||	4695	0.9375	0.9773	0.9323	5008	,	,		10095	0.9901		0.9165	False		,,,				2504	0.8548				p.A314A		.											.	SIX3-90	0			c.A942G						.	G		4039,129		1959,121,4	18.0	19.0	19.0		942	1.0	1.0	2	dbSNP_129	19	7494,648		3453,588,30	yes	coding-synonymous	SIX3	NM_005413.3		5412,709,34	GG,GA,AA		7.9587,3.095,6.3119		314/333	45171842	11533,777	2084	4071	6155	SO:0001819	synonymous_variant	6496	exon2			GCGCGCAGACACC	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.942A>G	2.37:g.45171842A>G		0	0		5	5	NM_005413	0	0	0	0	0	D6W5A5|Q53T42	Silent	SNP	ENST00000260653.3	37	CCDS1821.1																																																																																			A|0.059;G|0.941		0.697	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413	
SOWAHC	65124	hgsc.bcm.edu	37	2	110372192	110372192	+	Silent	SNP	A	A	G	rs6594048		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1.0	1.0	1.0	5008	,	,		6158	1.0		1.0	False		,,,				2504	1.0				p.L42L		.											.	.	0			c.A126G						.						1.0	2.0	2.0					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		0	0		4	4	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016	
FMNL2	114793	hgsc.bcm.edu	37	2	153476069	153476069	+	Silent	SNP	C	C	A			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr2:153476069C>A	ENST00000288670.9	+	15	2041	c.1674C>A	c.(1672-1674)ccC>ccA	p.P558P	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	558	Pro-rich.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)		p.P558P(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CGCCGCCGccccctcctccac	0.592																																					p.P558P		.											.	FMNL2-516	1	Substitution - coding silent(1)	ovary(1)	c.C1674A						.						4.0	4.0	4.0					2																	153476069		1457	3387	4844	SO:0001819	synonymous_variant	114793	exon15			GCCGCCCCCTCCT	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1674C>A	2.37:g.153476069C>A		15	0		10	5	NM_052905	0	0	0	0	0	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	ENST00000288670.9	37	CCDS46429.1																																																																																			.		0.592	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905	
EFHD1	80303	bcgsc.ca	37	2	233537125	233537125	+	Missense_Mutation	SNP	A	A	G	rs11550699	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr2:233537125A>G	ENST00000264059.3	+	3	1034	c.557A>G	c.(556-558)aAa>aGa	p.K186R	EFHD1_ENST00000410095.1_Missense_Mutation_p.K74R|EFHD1_ENST00000409708.1_Missense_Mutation_p.K74R|EFHD1_ENST00000409613.1_Missense_Mutation_p.K90R	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	186			K -> R (in dbSNP:rs11550699). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		GAGGGTGTCAAAGGTGCCAAG	0.577													A|||	1735	0.346446	0.1483	0.464	5008	,	,		18935	0.4891		0.3469	False		,,,				2504	0.3834				p.K186R		.											.	EFHD1-90	0			c.A557G						.	A	ARG/LYS	810,3596	324.8+/-298.8	83,644,1476	132.0	129.0	130.0		557	-0.4	0.9	2	dbSNP_120	130	3173,5427	482.0+/-370.8	597,1979,1724	yes	missense	EFHD1	NM_025202.3	26	680,2623,3200	GG,GA,AA		36.8953,18.384,30.6243	benign	186/240	233537125	3983,9023	2203	4300	6503	SO:0001583	missense	80303	exon3			GTGTCAAAGGTGC		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.557A>G	2.37:g.233537125A>G	ENSP00000264059:p.Lys186Arg	258	0		255	7	NM_025202	0	0	1	1	0	B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	ENST00000264059.3	37	CCDS2497.1	754	0.34523809523809523	73	0.1483739837398374	152	0.4198895027624309	272	0.4755244755244755	257	0.3390501319261214	A	9.677	1.148271	0.21288	0.18384	0.368953	ENSG00000115468	ENST00000409613;ENST00000264059;ENST00000540187;ENST00000409708;ENST00000427698;ENST00000410095	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	4.96	-0.41	0.12374	.	0.207888	0.48767	N	0.000164	T	0.00012	0.0000	L	0.53780	1.695	0.32928	P	0.48319999999999996	B;B	0.17268	0.002;0.021	B;B	0.15484	0.001;0.013	T	0.44513	-0.9323	9	0.30854	T	0.27	-1.3083	4.7049	0.12844	0.5494:0.1545:0.2961:0.0	rs11550699;rs17844998;rs17857759;rs52815265;rs59739742;rs11550699	90;186	E9PFH3;Q9BUP0	.;EFHD1_HUMAN	R	90;186;89;74;74;74	ENSP00000386556:K90R;ENSP00000264059:K186R;ENSP00000386243:K74R;ENSP00000401073:K74R;ENSP00000386685:K74R	ENSP00000264059:K186R	K	+	2	0	EFHD1	233245369	0.388000	0.25197	0.930000	0.37139	0.370000	0.29829	0.160000	0.16462	-0.331000	0.08501	-0.379000	0.06801	AAA	A|0.685;G|0.315		0.577	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202	
C2orf54	79919	bcgsc.ca	37	2	241828012	241828012	+	Silent	SNP	T	T	C	rs6708304	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr2:241828012T>C	ENST00000388934.4	-	4	1106	c.948A>G	c.(946-948)gaA>gaG	p.E316E	C2orf54_ENST00000307486.8_Silent_p.E167E|C2orf54_ENST00000402775.2_Silent_p.E148E	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	316										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CGCCCTGCAGTTCTGCCCAGT	0.697													C|||	2843	0.567692	0.8192	0.366	5008	,	,		9793	0.5278		0.5219	False		,,,				2504	0.4591				p.E316E		.											.	C2orf54-90	0			c.A948G						.	C	,	3233,979		1276,681,149	10.0	14.0	13.0		948,444	1.1	0.9	2	dbSNP_116	13	4211,4237		1104,2003,1117	no	coding-synonymous,coding-synonymous	C2orf54	NM_001085437.1,NM_024861.2	,	2380,2684,1266	CC,CT,TT		49.8461,23.2431,41.2006	,	316/448,148/280	241828012	7444,5216	2106	4224	6330	SO:0001819	synonymous_variant	79919	exon4			CTGCAGTTCTGCC	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.948A>G	2.37:g.241828012T>C		9	0		119	99	NM_001085437	0	0	0	0	0	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	CCDS42839.1																																																																																			T|0.464;C|0.536		0.697	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437	
TMC2	117532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	2573005	2573005	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr20:2573005G>A	ENST00000358864.1	+	8	899	c.884G>A	c.(883-885)cGg>cAg	p.R295Q		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	295					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)			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						ACAGTGCCTCGGGCTGAGGAA	0.428																																					p.R295Q		.											.	TMC2-93	0			c.G884A						.						163.0	148.0	153.0					20																	2573005		2203	4300	6503	SO:0001583	missense	117532	exon8			TGCCTCGGGCTGA	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.884G>A	20.37:g.2573005G>A	ENSP00000351732:p.Arg295Gln	130	0		189	61	NM_080751	0	0	0	0	0	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944198	0.92593	.	.	ENSG00000149488	ENST00000358864	T	0.28895	1.59	4.9	4.9	0.64082	.	0.106319	0.64402	D	0.000007	T	0.53498	0.1800	M	0.70787	2.145	0.50039	D	0.999842	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.996;0.999;0.999	T	0.47849	-0.9085	10	0.27082	T	0.32	-17.5056	15.9487	0.79813	0.0:0.0:1.0:0.0	.	126;127;295;295	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	Q	295	ENSP00000351732:R295Q	ENSP00000351732:R295Q	R	+	2	0	TMC2	2521005	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.336000	0.96533	2.454000	0.82982	0.563000	0.77884	CGG	.		0.428	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2		
ACTR5	79913	hgsc.bcm.edu	37	20	37377139	37377139	+	Silent	SNP	C	C	T	rs2254105	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272				p.F6F		.											.	ACTR5-90	0			c.C18T						.						3.0	4.0	4.0					20																	37377139		1470	2633	4103	SO:0001819	synonymous_variant	79913	exon1			CGTGTTCCCGTTC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T		0	0		8	6	NM_024855	0	0	0	2	2	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	CCDS13308.1																																																																																			C|0.769;T|0.231		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855	
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																					.		.											.	.	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	.						.		,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				SO:0001651	inframe_deletion	386675	.			GCCCCCCTGCTGC	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del	15	0		62	19	.	0	0	0	0	0	Q0VDJ8|Q70LJ2	Splice_Site	DEL	ENST00000380102.2	37																																																																																				.		0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
SCARF2	91179	hgsc.bcm.edu	37	22	20780091	20780091	+	Silent	SNP	C	C	G	rs759610		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:20780091C>G	ENST00000266214.5	-	11	2291	c.2187G>C	c.(2185-2187)ccG>ccC	p.P729P	SCARF2_ENST00000405555.3_Silent_p.P724P	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	729	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGGCAGCCCCGGGGGGCGCG	0.781																																					p.P729P		.											.	SCARF2-341	0			c.G2187C						.	G	,	3110,60		1525,60,0	4.0	5.0	4.0		2187,2172	-6.8	0.1	22	dbSNP_86	4	5974,118		2928,118,0	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4453,178,0	GG,GC,CC		1.937,1.8927,1.9218	,	729/871,724/866	20780091	9084,178	1585	3046	4631	SO:0001819	synonymous_variant	91179	exon11			CAGCCCCGGGGGG	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2187G>C	22.37:g.20780091C>G		0	0		9	9	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			C|0.138;G|0.862		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1		
SCARF2	91179	hgsc.bcm.edu	37	22	20780097	20780097	+	Silent	SNP	G	G	C	rs759609		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:20780097G>C	ENST00000266214.5	-	11	2285	c.2181C>G	c.(2179-2181)cgC>cgG	p.R727R	SCARF2_ENST00000405555.3_Silent_p.R722R	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	727	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCCCGGGGGGCGCGGCGTTG	0.781																																					p.R727R		.											.	SCARF2-341	0			c.C2181G						.	C	,	3271,119		1585,101,9	5.0	5.0	5.0		2181,2166	-5.3	0.0	22	dbSNP_86	5	6306,190		3060,186,2	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4645,287,11	CC,CG,GG		2.9249,3.5103,3.1256	,	727/871,722/866	20780097	9577,309	1695	3248	4943	SO:0001819	synonymous_variant	91179	exon11			CGGGGGGCGCGGC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2181C>G	22.37:g.20780097G>C		0	0		9	9	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			G|0.826;C|0.174		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1		
CRYBB1	1414	bcgsc.ca	37	22	26995525	26995525	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:26995525G>T	ENST00000215939.2	-	6	818	c.688C>A	c.(688-690)Cgt>Agt	p.R230S	TPST2_ENST00000403880.1_5'Flank	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	230	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CGCAGGCGACGCAGGGACTGC	0.627																																					p.R230S		.											.	CRYBB1-91	0			c.C688A						.						70.0	60.0	63.0					22																	26995525		2203	4300	6503	SO:0001583	missense	1414	exon6			GGCGACGCAGGGA		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.688C>A	22.37:g.26995525G>T	ENSP00000215939:p.Arg230Ser	155	0		169	6	NM_001887	0	0	2	2	0		Missense_Mutation	SNP	ENST00000215939.2	37	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234511	0.79800	.	.	ENSG00000100122	ENST00000215939	D	0.82081	-1.57	4.22	4.22	0.49857	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.94228	0.8147	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96272	0.9199	10	0.87932	D	0	.	16.1035	0.81203	0.0:0.0:1.0:0.0	.	230	P53674	CRBB1_HUMAN	S	230	ENSP00000215939:R230S	ENSP00000215939:R230S	R	-	1	0	CRYBB1	25325525	1.000000	0.71417	0.942000	0.38095	0.867000	0.49689	4.975000	0.63777	2.351000	0.79841	0.563000	0.77884	CGT	.		0.627	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887	
MN1	4330	hgsc.bcm.edu	37	22	28195386	28195386	+	Missense_Mutation	SNP	C	C	A	rs45589338	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:28195386C>A	ENST00000302326.4	-	1	2100	c.1146G>T	c.(1144-1146)caG>caT	p.Q382H		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	382			Q -> H (in dbSNP:rs45589338).		intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCTCGCCCTGCTGGGGCCGAG	0.726			T	ETV6	"""AML, meningioma"""								C|||	74	0.0147764	0.0023	0.0202	5008	,	,		9892	0.0		0.0427	False		,,,				2504	0.0143				p.Q382H		.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	.	MN1-993	0			c.G1146T						.	C	HIS/GLN	22,3204		0,22,1591	5.0	6.0	6.0		1146	4.2	1.0	22	dbSNP_127	6	230,7036		1,228,3404	yes	missense	MN1	NM_002430.2	24	1,250,4995	AA,AC,CC		3.1654,0.682,2.4018	possibly-damaging	382/1321	28195386	252,10240	1613	3633	5246	SO:0001583	missense	4330	exon1			GCCCTGCTGGGGC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1146G>T	22.37:g.28195386C>A	ENSP00000304956:p.Gln382His	0	0		7	5	NM_002430	0	0	0	0	0	A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	26	0.011904761904761904	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	20	0.026385224274406333	C	12.59	1.982741	0.34942	0.00682	0.031654	ENSG00000169184	ENST00000302326	T	0.46819	0.86	5.29	4.19	0.49359	.	0.530958	0.19784	N	0.106150	T	0.16981	0.0408	N	0.08118	0	0.36398	D	0.862938	D	0.53151	0.958	P	0.51135	0.66	T	0.41413	-0.9510	10	0.36615	T	0.2	-1.5205	16.6783	0.85285	0.0:0.8592:0.1408:0.0	rs45589338	382	Q10571	MN1_HUMAN	H	382	ENSP00000304956:Q382H	ENSP00000304956:Q382H	Q	-	3	2	MN1	26525386	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.165000	0.31822	2.473000	0.83533	0.484000	0.47621	CAG	C|0.986;A|0.014		0.726	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430	
TRIOBP	11078	hgsc.bcm.edu	37	22	38122462	38122462	+	Missense_Mutation	SNP	A	A	G	rs739138	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:38122462A>G	ENST00000406386.3	+	7	4154	c.3899A>G	c.(3898-3900)cAc>cGc	p.H1300R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1300			H -> R (in dbSNP:rs739138).		actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGCCGCACCCACAGCCCTGGC	0.741													G|||	3010	0.601038	0.1944	0.5836	5008	,	,		13399	0.8859		0.7157	False		,,,				2504	0.7515				p.H1300R		.											.	TRIOBP-136	0			c.A3899G						.	G	ARG/HIS	1221,2235		265,691,772	4.0	6.0	5.0		3899	3.9	1.0	22	dbSNP_86	5	5694,1808		2238,1218,295	yes	missense	TRIOBP	NM_001039141.2	29	2503,1909,1067	GG,GA,AA		24.1002,35.3299,36.8954	benign	1300/2366	38122462	6915,4043	1728	3751	5479	SO:0001583	missense	11078	exon7			GCACCCACAGCCC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3899A>G	22.37:g.38122462A>G	ENSP00000384312:p.His1300Arg	0	0		6	5	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	1409	0.6451465201465202	110	0.22357723577235772	222	0.6132596685082873	531	0.9283216783216783	546	0.7203166226912929	G	12.86	2.065195	0.36470	0.353299	0.758998	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.11063	2.81	4.93	3.9	0.45041	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.09310	P	0.999999999370294	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	8	0.02654	T	1	.	4.383	0.11304	0.2555:0.0:0.5874:0.1571	rs739138	1300	Q9H2D6	TARA_HUMAN	R	1300	ENSP00000384312:H1300R	ENSP00000384312:H1300R	H	+	2	0	TRIOBP	36452408	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.338000	0.33873	0.503000	0.28060	-0.366000	0.07423	CAC	A|0.354;G|0.646		0.741	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
NPTXR	23467	broad.mit.edu	37	22	39222627	39222627	+	Missense_Mutation	SNP	G	G	A	rs34637063	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:39222627G>A	ENST00000333039.2	-	3	1099	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	326	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R326W(1)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GACCTGGACCGCAGCCACATG	0.632													G|||	8	0.00159744	0.0	0.0	5008	,	,		18002	0.0		0.006	False		,,,				2504	0.002				p.R326W	Pancreas(139;2521 3281 36965)	.											.	NPTXR-92	1	Substitution - Missense(1)	prostate(1)	c.C976T						.	G	TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	78.0	71.0	73.0		976	4.6	1.0	22	dbSNP_126	73	42,8558	27.9+/-77.7	2,38,4260	yes	missense	NPTXR	NM_014293.3	101	2,42,6459	AA,AG,GG		0.4884,0.0908,0.3537	probably-damaging	326/501	39222627	46,12960	2203	4300	6503	SO:0001583	missense	23467	exon3			TGGACCGCAGCCA	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.976C>T	22.37:g.39222627G>A	ENSP00000327545:p.Arg326Trp	36	0		171	4	NM_014293	0	0	3	3	0		Missense_Mutation	SNP	ENST00000333039.2	37	CCDS33647.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	G	21.8	4.196556	0.79015	9.08E-4	0.004884	ENSG00000221890	ENST00000333039	T	0.61627	0.09	4.64	4.64	0.57946	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.277072	0.35067	N	0.003476	T	0.67230	0.2871	M	0.79123	2.44	0.37765	D	0.926466	D	0.89917	1.0	D	0.75484	0.986	T	0.78892	-0.2025	9	0.87932	D	0	-56.6397	11.0963	0.48145	0.0:0.0:0.6934:0.3066	rs34637063	326	O95502	NPTXR_HUMAN	W	326	ENSP00000327545:R326W	ENSP00000327545:R326W	R	-	1	2	NPTXR	37552573	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.441000	0.66569	2.861000	0.98227	0.655000	0.94253	CGG	G|0.996;A|0.004		0.632	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293	
PRR5	55615	hgsc.bcm.edu	37	22	45132831	45132831	+	Missense_Mutation	SNP	G	G	A	rs56299305	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:45132831G>A	ENST00000336985.6	+	8	1148	c.871G>A	c.(871-873)Gag>Aag	p.E291K	PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000006251.7_Missense_Mutation_p.E282K|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000403581.1_Missense_Mutation_p.E314K	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	291					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GTCCTGCCCCGAGCCTCAGGG	0.736													G|||	12	0.00239617	0.0	0.0	5008	,	,		12789	0.0		0.0119	False		,,,				2504	0.0				p.E314K		.											.	PRR5-23	0			c.G940A						.	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,	8,4348		0,8,2170	12.0	15.0	14.0		844,586,586,940,844,871,	5.0	1.0	22	dbSNP_129	14	56,8486		0,56,4215	yes	missense,missense,missense,missense,missense,missense,intron	PRR5,PRR5-ARHGAP8	NM_001017528.2,NM_001017529.2,NM_001017530.1,NM_001198721.1,NM_015366.3,NM_181333.3,NM_181334.4	56,56,56,56,56,56,	0,64,6385	AA,AG,GG		0.6556,0.1837,0.4962	,,,,,,	282/380,196/294,196/294,314/412,282/380,291/389,	45132831	64,12834	2178	4271	6449	SO:0001583	missense	55615	exon10			TGCCCCGAGCCTC	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.871G>A	22.37:g.45132831G>A	ENSP00000337464:p.Glu291Lys	0	0		30	10	NM_001198721	0	0	5	7	2	B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000336985.6	37	CCDS14058.1	9	0.004120879120879121	0	0.0	0	0.0	0	0.0	9	0.011873350923482849	G	34	5.402083	0.96030	0.001837	0.006556	ENSG00000186654	ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985	T;T;T	0.37752	1.23;1.18;1.22	5.01	5.01	0.66863	.	.	.	.	.	T	0.50274	0.1606	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.997;0.997	D;P;D;P;P	0.87578	0.994;0.735;0.998;0.735;0.735	T	0.54735	-0.8249	8	.	.	.	.	17.8924	0.88876	0.0:0.0:1.0:0.0	rs56299305	255;314;190;291;291	B1AHF5;B1AHF6;P85299-2;P85299;A8K699	.;.;.;PRR5_HUMAN;.	K	282;255;314;291	ENSP00000006251:E282K;ENSP00000384848:E314K;ENSP00000337464:E291K	.	E	+	1	0	PRR5	43511495	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	6.033000	0.70925	2.308000	0.77769	0.313000	0.20887	GAG	G|0.995;A|0.005		0.736	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528	
TTC38	55020	bcgsc.ca	37	22	46664412	46664412	+	Splice_Site	SNP	C	C	T	rs117135869	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:46664412C>T	ENST00000381031.3	+	2	111	c.35C>T	c.(34-36)gCc>gTc	p.A12V	TTC38_ENST00000445282.2_Splice_Site_p.A12V	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	12						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CGTCTGTAGGCCTGGAAGGAT	0.602													C|||	29	0.00579073	0.0015	0.0072	5008	,	,		14810	0.0		0.0199	False		,,,				2504	0.002				p.A12V		.											.	TTC38-91	0			c.C35T						.	C	VAL/ALA	7,4357		0,7,2175	42.0	51.0	48.0		35	5.1	1.0	22	dbSNP_132	48	139,8419		0,139,4140	yes	missense-near-splice	TTC38	NM_017931.2	64	0,146,6315	TT,TC,CC		1.6242,0.1604,1.1299	probably-damaging	12/470	46664412	146,12776	2182	4279	6461	SO:0001630	splice_region_variant	55020	exon2			TGTAGGCCTGGAA		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.34-1C>T	22.37:g.46664412C>T		155	4		151	8	NM_017931	0	0	0	0	0	Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	CCDS43030.1	15	0.006868131868131868	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	10	0.013192612137203167	C	36	5.602889	0.96614	0.001604	0.016242	ENSG00000075234	ENST00000381031;ENST00000445282;ENST00000421359	D;D;D	0.83075	-1.68;-1.68;-1.68	5.13	5.13	0.70059	.	0.051624	0.85682	D	0.000000	D	0.85204	0.5643	M	0.77820	2.39	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.79108	0.988;0.992	D	0.88336	0.2971	10	0.62326	D	0.03	-4.358	17.9252	0.88982	0.0:1.0:0.0:0.0	.	12;12	E7ES35;Q5R3I4	.;TTC38_HUMAN	V	12	ENSP00000370419:A12V;ENSP00000393960:A12V;ENSP00000410095:A12V	ENSP00000370419:A12V	A	+	2	0	TTC38	45043076	1.000000	0.71417	0.952000	0.39060	0.757000	0.42996	6.882000	0.75589	2.532000	0.85374	0.561000	0.74099	GCC	C|0.990;T|0.010		0.602	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931	Missense_Mutation
TTLL3	26140	bcgsc.ca	37	3	9870857	9870857	+	Silent	SNP	G	G	A	rs2290303	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:9870857G>A	ENST00000547186.1	+	10	1548	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q	TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000426895.4_Silent_p.Q587Q|ARPC4-TTLL3_ENST00000397256.1_Silent_p.Q505Q|TTLL3_ENST00000430793.1_Silent_p.Q232Q|TTLL3_ENST00000427853.3_Silent_p.Q232Q|TTLL3_ENST00000383827.1_Silent_p.Q232Q|TTLL3_ENST00000455274.1_Silent_p.Q232Q|TTLL3_ENST00000397241.1_Silent_p.Q232Q	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	444	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACACCGTGCAGTGTCGGAAGG	0.592													G|||	1367	0.272963	0.1286	0.3112	5008	,	,		22011	0.1577		0.5746	False		,,,				2504	0.2495				p.Q587Q		.											.	TTLL3-585	0			c.G1761A						.	G	,	794,3612	319.6+/-296.2	81,632,1490	118.0	89.0	99.0		1761,1515	0.7	0.6	3	dbSNP_100	99	4342,4258	579.8+/-391.0	1109,2124,1067	no	coding-synonymous,coding-synonymous	TTLL3,ARPC4-TTLL3	NM_001025930.3,NM_001198793.1	,	1190,2756,2557	AA,AG,GG		49.5116,18.0209,39.4895	,	587/916,505/626	9870857	5136,7870	2203	4300	6503	SO:0001819	synonymous_variant	26140	exon10			CGTGCAGTGTCGG		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1332G>A	3.37:g.9870857G>A		248	3		286	8	NM_001025930	0	0	15	15	0	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37		722	0.3305860805860806	67	0.13617886178861788	126	0.34806629834254144	89	0.1555944055944056	440	0.5804749340369393	G	7.645	0.681788	0.14907	0.180209	0.504884	ENSG00000214021	ENST00000310252	.	.	.	4.93	0.73	0.18271	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.27062	P	0.9635391	.	.	.	.	.	.	T	0.47071	-0.9145	3	.	.	.	.	5.6426	0.17572	0.2252:0.0:0.5736:0.2012	rs2290303;rs17319071	.	.	.	M	400	.	.	V	+	1	0	TTLL3	9845857	0.050000	0.20438	0.650000	0.29550	0.977000	0.68977	0.301000	0.19174	0.489000	0.27749	0.563000	0.77884	GTG	G|0.623;A|0.377		0.592	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2	
FANCD2	2177	hgsc.bcm.edu;bcgsc.ca	37	3	10108898	10108898	+	Silent	SNP	A	A	G	rs77246387		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:10108898A>G	ENST00000419585.1	+	26	2552	c.2391A>G	c.(2389-2391)gtA>gtG	p.V797V	FANCD2_ENST00000383806.1_Silent_p.V797V|FANCD2_ENST00000383807.1_Silent_p.V797V|FANCD2_ENST00000287647.3_Silent_p.V797V			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	797					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.V797V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCAGATTGTAAATGCCTTCT	0.368			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.V797V		.	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	FANCD2-229	1	Substitution - coding silent(1)	prostate(1)	c.A2391G						.						72.0	63.0	66.0					3																	10108898		2203	4300	6503	SO:0001819	synonymous_variant	2177	exon26	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	GATTGTAAATGCC	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2391A>G	3.37:g.10108898A>G		85	0		89	7	NM_001018115	0	0	0	0	0	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	CCDS33696.1																																																																																			A|0.909;G|0.091		0.368	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
FANCD2	2177	hgsc.bcm.edu;bcgsc.ca	37	3	10108913	10108913	+	Missense_Mutation	SNP	G	G	T	rs80258959		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:10108913G>T	ENST00000419585.1	+	26	2567	c.2406G>T	c.(2404-2406)caG>caT	p.Q802H	FANCD2_ENST00000383806.1_Missense_Mutation_p.Q802H|FANCD2_ENST00000383807.1_Missense_Mutation_p.Q802H|FANCD2_ENST00000287647.3_Missense_Mutation_p.Q802H			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	802					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.Q802H(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCTTCTGCCAGGAAACATCAC	0.378			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.Q802H		.	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	FANCD2-229	2	Substitution - Missense(2)	prostate(2)	c.G2406T						.						82.0	72.0	75.0					3																	10108913		2203	4300	6503	SO:0001583	missense	2177	exon26	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	CTGCCAGGAAACA	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2406G>T	3.37:g.10108913G>T	ENSP00000398754:p.Gln802His	96	0		119	6	NM_001018115	0	0	1	1	0	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373535	0.61624	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.44	1.83	0.25207	.	0.551240	0.20789	N	0.085651	T	0.50240	0.1604	M	0.63428	1.95	0.30837	N	0.736052	P;P	0.50710	0.938;0.938	P;P	0.53988	0.739;0.739	T	0.53229	-0.8468	10	0.54805	T	0.06	.	3.6289	0.08124	0.3156:0.0:0.4962:0.1881	.	802;802	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	H	802	ENSP00000287647:Q802H;ENSP00000373318:Q802H;ENSP00000373317:Q802H;ENSP00000398754:Q802H	ENSP00000287647:Q802H	Q	+	3	2	FANCD2	10083913	0.804000	0.28969	0.409000	0.26459	0.904000	0.53231	1.055000	0.30467	0.519000	0.28406	0.585000	0.79938	CAG	G|0.990;T|0.010		0.378	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
NR2C2	7182	bcgsc.ca	37	3	15046088	15046088	+	Intron	SNP	T	T	C	rs77813966	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:15046088T>C	ENST00000425241.1	+	2	434				NR2C2_ENST00000393102.3_Intron|NR2C2_ENST00000406272.2_Intron|NR2C2_ENST00000323373.6_Silent_p.L33L			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2						cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ctctggcccattgagtgtttt	0.353													T|||	90	0.0179712	0.0008	0.0259	5008	,	,		16983	0.0		0.0437	False		,,,				2504	0.0276				p.L33L		.											.	NR2C2-226	0			c.T97C						.	T		32,4374	36.0+/-67.5	1,30,2172	60.0	60.0	60.0		97	-2.2	0.0	3	dbSNP_132	60	383,8217	123.4+/-182.3	13,357,3930	no	coding-synonymous	NR2C2	NM_003298.3		14,387,6102	CC,CT,TT		4.4535,0.7263,3.1908		33/616	15046088	415,12591	2203	4300	6503	SO:0001627	intron_variant	7182	exon3			GGCCCATTGAGTG	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.72+595T>C	3.37:g.15046088T>C		237	1		189	7	NM_003298	0	0	0	0	0	A8K3H5|B6ZGT8|P55092	Silent	SNP	ENST00000425241.1	37																																																																																				T|0.968;C|0.032		0.353	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298	
PRSS42	339906	hgsc.bcm.edu	37	3	46875395	46875395	+	Missense_Mutation	SNP	G	G	T	rs557356194		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:46875395G>T	ENST00000429665.1	-	1	190	c.191C>A	c.(190-192)aCg>aAg	p.T64K	PRSS42_ENST00000447340.1_5'Flank	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	64					germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						TGGAAAGGACGTAAACAGATT	0.711																																					p.T64K		.											.	PRSS42-91	0			c.C191A						.						6.0	10.0	9.0					3																	46875395		1811	3981	5792	SO:0001583	missense	339906	exon1			AAGGACGTAAACA		CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"""Serine peptidases / Serine peptidases"""	30716	protein-coding gene	gene with protein product	"""testis serine protease 2"""					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.191C>A	3.37:g.46875395G>T	ENSP00000401701:p.Thr64Lys	29	0		78	4	NM_182702	0	0	0	0	0		Missense_Mutation	SNP	ENST00000429665.1	37	CCDS46816.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269749	0.23221	.	.	ENSG00000178055	ENST00000429665	D	0.88046	-2.33	2.87	-0.218	0.13142	.	2.132630	0.02567	N	0.097410	T	0.74397	0.3711	N	0.19112	0.55	0.09310	N	1	B	0.28082	0.2	B	0.22386	0.039	T	0.61598	-0.7030	10	0.10111	T	0.7	.	4.4856	0.11788	0.0:0.2427:0.4504:0.3069	.	64	Q7Z5A4	PRS42_HUMAN	K	64	ENSP00000401701:T64K	ENSP00000401701:T64K	T	-	2	0	PRSS42	46850399	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-1.624000	0.02038	-0.079000	0.12707	0.407000	0.27541	ACG	.		0.711	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344347.1	NM_182702	
IQCF1	132141	bcgsc.ca	37	3	51930850	51930850	+	Missense_Mutation	SNP	T	T	C	rs57859638	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:51930850T>C	ENST00000310914.5	-	3	231	c.169A>G	c.(169-171)Aaa>Gaa	p.K57E		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	57										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGTCATACTTTTTCTGATTTC	0.488													T|||	494	0.0986422	0.0772	0.1441	5008	,	,		15992	0.0169		0.1899	False		,,,				2504	0.0859				p.K57E		.											.	IQCF1-91	0			c.A169G						.	T	GLU/LYS	440,3966	211.8+/-231.9	25,390,1788	168.0	155.0	160.0		169	-5.5	0.0	3	dbSNP_129	160	1647,6953	304.8+/-307.1	158,1331,2811	yes	missense	IQCF1	NM_152397.2	56	183,1721,4599	CC,CT,TT		19.1512,9.9864,16.0464	benign	57/206	51930850	2087,10919	2203	4300	6503	SO:0001583	missense	132141	exon3			ATACTTTTTCTGA	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.169A>G	3.37:g.51930850T>C	ENSP00000307958:p.Lys57Glu	107	0		99	6	NM_152397	0	0	0	0	0	Q8N711	Missense_Mutation	SNP	ENST00000310914.5	37	CCDS2836.1	258	0.11813186813186813	54	0.10975609756097561	50	0.13812154696132597	6	0.01048951048951049	148	0.19525065963060687	T	7.233	0.599696	0.13939	0.099864	0.191512	ENSG00000173389	ENST00000535733;ENST00000310914	T	0.30182	1.54	3.15	-5.5	0.02576	.	2.522450	0.01453	N	0.015570	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.18493	-1.0335	9	0.07644	T	0.81	-12.336	6.6923	0.23179	0.0:0.1824:0.1462:0.6715	rs57859638	57	Q8N6M8	IQCF1_HUMAN	E	57	ENSP00000307958:K57E	ENSP00000307958:K57E	K	-	1	0	IQCF1	51905890	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.751000	0.01821	-1.368000	0.02149	0.448000	0.29417	AAA	T|0.851;C|0.149		0.488	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397	
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																					p.G36G		.											.	PLXNA1-93	4	Substitution - coding silent(4)	lung(2)|kidney(2)	c.T108G						.						26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361	exon1			CGGGGGTTCACAG	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G		24	2		144	36	NM_032242	0	0	0	0	0		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			.		0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242	
PLXNA1	5361	hgsc.bcm.edu	37	3	126733053	126733053	+	Silent	SNP	C	C	T	rs11719489	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:126733053C>T	ENST00000393409.2	+	11	2439	c.2439C>T	c.(2437-2439)cgC>cgT	p.R813R	PLXNA1_ENST00000251772.4_Silent_p.R790R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	813					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGGCCCTGCGCGAGAGCTGCG	0.741													C|||	327	0.0652955	0.0809	0.0793	5008	,	,		11902	0.002		0.1402	False		,,,				2504	0.0225				p.R813R		.											.	PLXNA1-93	0			c.C2439T						.			339,4057		23,293,1882	18.0	21.0	20.0		2439	-4.7	0.9	3	dbSNP_120	20	1112,7424		88,936,3244	no	coding-synonymous	PLXNA1	NM_032242.3		111,1229,5126	TT,TC,CC		13.0272,7.7116,11.2202		813/1897	126733053	1451,11481	2198	4268	6466	SO:0001819	synonymous_variant	5361	exon11			CCTGCGCGAGAGC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2439C>T	3.37:g.126733053C>T		0	0		13	11	NM_032242	0	0	0	0	0		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			C|0.900;T|0.100		0.741	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242	
KLHL24	54800	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	183388949	183388949	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:183388949G>T	ENST00000454652.2	+	7	1738	c.1352G>T	c.(1351-1353)aGc>aTc	p.S451I	KLHL24_ENST00000242810.6_Missense_Mutation_p.S451I|KLHL24_ENST00000476808.1_Missense_Mutation_p.S451I	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	451						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GCAGTGACTAGCTGTGTAGGC	0.403																																					p.S451I		.											.	KLHL24-91	0			c.G1352T						.						226.0	207.0	214.0					3																	183388949		2203	4300	6503	SO:0001583	missense	54800	exon6			TGACTAGCTGTGT		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1352G>T	3.37:g.183388949G>T	ENSP00000395012:p.Ser451Ile	231	1		218	37	NM_017644	0	0	7	9	2	A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	G	32	5.169746	0.94768	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.78481	-1.18;-1.18;-1.18	5.36	5.36	0.76844	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.82318	0.5011	L	0.45581	1.43	0.80722	D	1	D;P	0.58268	0.982;0.616	P;P	0.55749	0.783;0.574	T	0.83140	-0.0109	10	0.54805	T	0.06	.	19.1265	0.93386	0.0:0.0:1.0:0.0	.	451;451	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	I	451	ENSP00000242810:S451I;ENSP00000395012:S451I;ENSP00000419010:S451I	ENSP00000242810:S451I	S	+	2	0	KLHL24	184871643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.523000	0.85059	0.655000	0.94253	AGC	.		0.403	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644	
OTOP1	133060	hgsc.bcm.edu	37	4	4228456	4228456	+	Silent	SNP	G	G	T	rs73191872		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr4:4228456G>T	ENST00000296358.4	-	1	160	c.136C>A	c.(136-138)Cgg>Agg	p.R46R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	46					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACAccgccccgccggggggcc	0.736																																					p.R46R		.											.	OTOP1-92	0			c.C136A						.						4.0	4.0	4.0					4																	4228456		1989	3880	5869	SO:0001819	synonymous_variant	133060	exon1			CGCCCCGCCGGGG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.136C>A	4.37:g.4228456G>T		2	0		22	7	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
WFS1	7466	bcgsc.ca	37	4	6302545	6302545	+	Silent	SNP	C	C	T	rs56072215	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr4:6302545C>T	ENST00000226760.1	+	8	1193	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	WFS1_ENST00000503569.1_Silent_p.F341F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	341					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCGACTTCTTCGCCTTCTTCA	0.557													c|||	134	0.0267572	0.0038	0.036	5008	,	,		21911	0.0		0.0507	False		,,,				2504	0.0542				p.F341F		.											.	WFS1-91	0			c.C1023T						.		,	57,4349	57.4+/-93.9	0,57,2146	434.0	287.0	337.0		1023,1023	-2.3	1.0	4	dbSNP_129	337	632,7968	163.8+/-216.2	28,576,3696	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	28,633,5842	TT,TC,CC		7.3488,1.2937,5.2976	,	341/891,341/891	6302545	689,12317	2203	4300	6503	SO:0001819	synonymous_variant	7466	exon8			CTTCTTCGCCTTC	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1023C>T	4.37:g.6302545C>T		355	1		344	8	NM_001145853	0	0	14	14	0	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	CCDS3386.1	61	0.027930402930402932	2	0.0040650406504065045	19	0.052486187845303865	0	0.0	40	0.052770448548812667	c	5.588	0.293274	0.10567	0.012937	0.073488	ENSG00000109501	ENST00000506362	.	.	.	4.6	-2.33	0.06724	.	.	.	.	.	T	0.09024	0.0223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31166	-0.9953	4	.	.	.	-23.4521	11.1896	0.48677	0.0:0.3372:0.0:0.6628	rs56072215;rs61735403	.	.	.	L	219	.	.	S	+	2	0	WFS1	6353446	0.192000	0.23301	0.989000	0.46669	0.988000	0.76386	-0.507000	0.06352	-0.453000	0.07076	-0.224000	0.12420	TCG	C|0.951;T|0.049		0.557	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1		
NKX3-2	579	hgsc.bcm.edu	37	4	13545716	13545716	+	Missense_Mutation	SNP	G	G	C	rs202191746	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr4:13545716G>C	ENST00000382438.5	-	1	958	c.323C>G	c.(322-324)gCg>gGg	p.A108G	AC006445.8_ENST00000501050.1_lincRNA	NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	108					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						ccgcgcgtccgcgcagcgccg	0.721													g|||	8	0.00159744	0.0	0.0072	5008	,	,		9903	0.0		0.003	False		,,,				2504	0.0				p.A108G		.											.	NKX3-2-68	0			c.C323G						.		GLY/ALA	3,3423		0,3,1710	4.0	6.0	5.0		323	3.3	0.7	4		5	12,7352		0,12,3670	no	missense	NKX3-2	NM_001189.3	60	0,15,5380	CC,CG,GG		0.163,0.0876,0.139	benign	108/334	13545716	15,10775	1713	3682	5395	SO:0001583	missense	579	exon1			GCGTCCGCGCAGC	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.323C>G	4.37:g.13545716G>C	ENSP00000371875:p.Ala108Gly	0	0		13	8	NM_001189	0	0	0	0	0	Q2M2I7	Missense_Mutation	SNP	ENST00000382438.5	37	CCDS3410.1	5	0.0022893772893772895	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	g	5.454	0.268797	0.10349	8.76E-4	0.00163	ENSG00000109705	ENST00000382438	D	0.91351	-2.83	4.17	3.32	0.38043	.	.	.	.	.	T	0.75474	0.3854	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.64918	-0.6294	9	0.28530	T	0.3	.	8.4009	0.32586	0.1134:0.0:0.8866:0.0	.	108	P78367	NKX32_HUMAN	G	108	ENSP00000371875:A108G	ENSP00000371875:A108G	A	-	2	0	NKX3-2	13154814	0.299000	0.24426	0.675000	0.29917	0.120000	0.20174	1.490000	0.35573	0.875000	0.35847	-0.142000	0.14014	GCG	G|0.998;C|0.002		0.721	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3		
UBA6	55236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	68510476	68510476	+	Silent	SNP	G	G	T			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr4:68510476G>T	ENST00000322244.5	-	17	1475	c.1416C>A	c.(1414-1416)ggC>ggA	p.G472G		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	472					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ACATTTCACAGCCTATGGCTC	0.318																																					p.G472G		.											.	UBA6-90	0			c.C1416A						.						78.0	76.0	77.0					4																	68510476		2203	4300	6503	SO:0001819	synonymous_variant	55236	exon17			TTCACAGCCTATG	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1416C>A	4.37:g.68510476G>T		194	0		183	23	NM_018227	0	0	1	2	1	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	9.518	1.107463	0.20714	.	.	ENSG00000033178	ENST00000505673	.	.	.	6.11	4.11	0.48088	.	.	.	.	.	T	0.46833	0.1413	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45396	-0.9264	4	.	.	.	-10.1529	2.8273	0.05489	0.112:0.1466:0.4419:0.2995	.	.	.	.	D	6	.	.	A	-	2	0	UBA6	68193071	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.077000	0.41557	1.545000	0.49373	0.655000	0.94253	GCT	.		0.318	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227	
UGT2B11	10720	ucsc.edu	37	4	70066376	70066376	+	Missense_Mutation	SNP	C	C	G	rs144149579	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr4:70066376C>G	ENST00000446444.1	-	6	1380	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	458					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.D458H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ACTGCTCGATCCAGGGGCTTT	0.408																																					p.D458H		.											.	UGT2B11-93	1	Substitution - Missense(1)	skin(1)	c.G1372C						.						104.0	107.0	106.0					4																	70066376		2203	4298	6501	SO:0001583	missense	10720	exon6			CTCGATCCAGGGG	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1372G>C	4.37:g.70066376C>G	ENSP00000387683:p.Asp458His	83	5		77	18	NM_001073	0	0	0	0	0	Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	11.29	1.595749	0.28445	.	.	ENSG00000213759	ENST00000446444	T	0.73469	-0.75	1.27	1.27	0.21489	.	0.000000	0.64402	U	0.000002	D	0.88738	0.6518	H	0.97415	4	0.31420	N	0.674431	D	0.89917	1.0	D	0.81914	0.995	D	0.86564	0.1843	10	0.87932	D	0	.	8.4963	0.33130	0.0:1.0:0.0:0.0	.	458	O75310	UDB11_HUMAN	H	458	ENSP00000387683:D458H	ENSP00000387683:D458H	D	-	1	0	UGT2B11	70100965	0.997000	0.39634	0.937000	0.37676	0.142000	0.21351	3.075000	0.50073	1.023000	0.39654	0.184000	0.17185	GAT	C|0.932;G|0.068		0.408	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073	
UGT2B11	10720	ucsc.edu	37	4	70066408	70066408	+	Missense_Mutation	SNP	C	C	A	rs200919649		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr4:70066408C>A	ENST00000446444.1	-	6	1348	c.1340G>T	c.(1339-1341)aGa>aTa	p.R447I	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	447					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATGTTGAATTCTTGATAATTT	0.373																																					p.R447I		.											.	UGT2B11-93	0			c.G1340T						.						66.0	71.0	69.0					4																	70066408		2203	4298	6501	SO:0001583	missense	10720	exon6			TGAATTCTTGATA	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1340G>T	4.37:g.70066408C>A	ENSP00000387683:p.Arg447Ile	61	2		55	10	NM_001073	0	0	0	0	0	Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	4.019	0.000882	0.07819	.	.	ENSG00000213759	ENST00000446444	T	0.62788	0.0	1.27	0.283	0.15696	.	0.310296	0.24102	U	0.041536	T	0.51787	0.1695	L	0.50993	1.605	0.30965	N	0.723211	B	0.20780	0.048	B	0.25987	0.065	T	0.53351	-0.8451	10	0.72032	D	0.01	.	7.0366	0.24996	0.0:0.7131:0.2869:0.0	.	447	O75310	UDB11_HUMAN	I	447	ENSP00000387683:R447I	ENSP00000387683:R447I	R	-	2	0	UGT2B11	70100997	0.000000	0.05858	0.541000	0.28102	0.201000	0.24016	-0.075000	0.11431	0.079000	0.16929	0.184000	0.17185	AGA	.		0.373	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073	
ADAMTS16	170690	hgsc.bcm.edu	37	5	5140798	5140798	+	Missense_Mutation	SNP	C	C	T	rs61754840	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr5:5140798C>T	ENST00000274181.7	+	2	232	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S	CTD-2297D10.2_ENST00000512155.1_RNA|CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.P32S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	32					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGCCATGGGACCCGCAGCGGC	0.741													C|||	5	0.000998403	0.0	0.0	5008	,	,		12282	0.0		0.001	False		,,,				2504	0.0041				p.P32S		.											.	ADAMTS16-275	0			c.C94T						.	C	SER/PRO	3,3543		0,3,1770	4.0	6.0	6.0		94	0.1	0.7	5	dbSNP_129	6	10,7804		0,10,3897	yes	missense	ADAMTS16	NM_139056.2	74	0,13,5667	TT,TC,CC		0.128,0.0846,0.1144	benign	32/1225	5140798	13,11347	1773	3907	5680	SO:0001583	missense	170690	exon2			ATGGGACCCGCAG	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.94C>T	5.37:g.5140798C>T	ENSP00000274181:p.Pro32Ser	0	0		16	6	NM_139056	0	0	0	0	0	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	2.456	-0.325207	0.05350	8.46E-4	0.00128	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.61274	0.23;0.12	3.89	0.139	0.14798	.	0.822214	0.09935	N	0.736699	T	0.34803	0.0910	N	0.24115	0.695	0.09310	N	1	B;B;B	0.29646	0.164;0.253;0.164	B;B;B	0.25405	0.027;0.06;0.027	T	0.18808	-1.0325	10	0.08381	T	0.77	.	7.41	0.27011	0.2154:0.5034:0.2811:0.0	rs61754840	32;32;32	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	S	32	ENSP00000274181:P32S;ENSP00000421631:P32S	ENSP00000274181:P32S	P	+	1	0	ADAMTS16	5193798	0.003000	0.15002	0.704000	0.30370	0.122000	0.20287	-0.844000	0.04345	0.242000	0.21303	-0.676000	0.03789	CCC	C|0.995;T|0.005		0.741	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
TRERF1	55809	broad.mit.edu	37	6	42236973	42236973	+	Missense_Mutation	SNP	C	C	T	rs61756353	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:42236973C>T	ENST00000372922.4	-	5	918	c.356G>A	c.(355-357)gGc>gAc	p.G119D	TRERF1_ENST00000541110.1_Missense_Mutation_p.G119D|TRERF1_ENST00000340840.2_Missense_Mutation_p.G119D|TRERF1_ENST00000372917.4_Missense_Mutation_p.G119D|TRERF1_ENST00000354325.2_Missense_Mutation_p.G119D	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	119					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTATTGGTAGCCATCAGTGGG	0.572													C|||	15	0.00299521	0.0	0.0	5008	,	,		19457	0.0		0.002	False		,,,				2504	0.0133				p.G119D		.											.	TRERF1-230	0			c.G356A						.	C	ASP/GLY	3,4403	6.2+/-15.9	0,3,2200	165.0	167.0	166.0		356	4.6	1.0	6	dbSNP_129	166	29,8571	20.4+/-63.3	0,29,4271	yes	missense	TRERF1	NM_033502.2	94	0,32,6471	TT,TC,CC		0.3372,0.0681,0.246	probably-damaging	119/1201	42236973	32,12974	2203	4300	6503	SO:0001583	missense	55809	exon5			TGGTAGCCATCAG	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.356G>A	6.37:g.42236973C>T	ENSP00000362013:p.Gly119Asp	113	0		114	4	NM_033502	0	0	0	0	0	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.88	2.964211	0.53507	6.81E-4	0.003372	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.18960	2.43;2.18;2.37;2.18;2.19	5.5	4.61	0.57282	.	0.096885	0.45361	D	0.000363	T	0.23886	0.0578	L	0.32530	0.975	0.37383	D	0.912135	D;D;D	0.76494	0.999;0.995;0.995	D;P;P	0.71414	0.973;0.878;0.878	T	0.07908	-1.0748	10	0.87932	D	0	-9.923	14.61	0.68510	0.0:0.7229:0.2771:0.0	rs61756353	119;119;119	Q96PN7-4;Q05GC8;Q96PN7	.;.;TREF1_HUMAN	D	119	ENSP00000439689:G119D;ENSP00000362008:G119D;ENSP00000362013:G119D;ENSP00000339438:G119D;ENSP00000346285:G119D	ENSP00000339438:G119D	G	-	2	0	TRERF1	42344951	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.339000	0.52135	1.291000	0.44653	0.462000	0.41574	GGC	C|0.997;T|0.003		0.572	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	
DST	667	bcgsc.ca	37	6	56327849	56327849	+	Missense_Mutation	SNP	C	C	T	rs11758339	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:56327849C>T	ENST00000244364.6	-	82	15331	c.15124G>A	c.(15124-15126)Gca>Aca	p.A5042T	DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_3'UTR	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	7442					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATACCTCTGCAGATGGCACG	0.433													C|||	1095	0.21865	0.0802	0.2507	5008	,	,		19212	0.2401		0.2515	False		,,,				2504	0.3272				p.A5042T		.											.	DST-523	0			c.G15124A						.	C	THR/ALA	393,3485		16,361,1562	132.0	124.0	126.0		15124	1.9	1.0	6	dbSNP_120	126	2167,6149		295,1577,2286	yes	missense	DST	NM_015548.4	58	311,1938,3848	TT,TC,CC		26.0582,10.1341,20.9939	benign	5042/5172	56327849	2560,9634	1939	4158	6097	SO:0001583	missense	667	exon82			CCTCTGCAGATGG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.15124G>A	6.37:g.56327849C>T	ENSP00000244364:p.Ala5042Thr	100	1		127	6	NM_015548	0	0	1	1	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000244364.6	37	CCDS47443.1	446	0.2042124542124542	35	0.07113821138211382	103	0.2845303867403315	129	0.22552447552447552	179	0.23614775725593667	C	10.24	1.295014	0.23564	0.101341	0.260582	ENSG00000151914	ENST00000244364	T	0.39592	1.07	5.79	1.9	0.25705	.	.	.	.	.	T	0.05686	0.0149	N	0.11427	0.14	0.09310	P	0.999996	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.37244	-0.9714	8	0.02654	T	1	.	7.175	0.25738	0.0:0.4431:0.3626:0.1943	rs11758339;rs17234615;rs52794909;rs61232913;rs11758339	5042;129	Q03001-8;Q86T18	.;.	T	5042	ENSP00000244364:A5042T	ENSP00000244364:A5042T	A	-	1	0	DST	56435808	0.923000	0.31300	0.998000	0.56505	0.993000	0.82548	0.212000	0.17497	0.335000	0.23614	0.655000	0.94253	GCA	C|0.788;T|0.212		0.433	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4	NM_001723	
DST	667	bcgsc.ca	37	6	56484758	56484758	+	Silent	SNP	C	C	T	rs2230862	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:56484758C>T	ENST00000370765.6	-	23	4181	c.4074G>A	c.(4072-4074)aaG>aaA	p.K1358K	DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCTTTCTGCTTGTCATGTT	0.443													T|||	1685	0.336462	0.4523	0.3746	5008	,	,		19178	0.2034		0.3946	False		,,,				2504	0.2301				p.K1358K		.											.	DST-523	0			c.G4074A						.	T	,	1918,2488	626.8+/-394.8	399,1120,684	194.0	180.0	185.0		4074,	-2.8	0.0	6	dbSNP_98	185	3584,5016	627.4+/-398.0	762,2060,1478	no	coding-synonymous,intron	DST	NM_001723.5,NM_015548.4	,	1161,3180,2162	TT,TC,CC		41.6744,43.5315,42.3036	,	1358/2650,	56484758	5502,7504	2203	4300	6503	SO:0001819	synonymous_variant	667	exon23			TTTCTGCTTGTCA	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4074G>A	6.37:g.56484758C>T		138	0		124	6	NM_001723	0	0	0	0	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370765.6	37	CCDS4959.1																																																																																			C|0.609;T|0.391		0.443	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
CTGF	1490	hgsc.bcm.edu	37	6	132271952	132271952	+	Missense_Mutation	SNP	G	G	C	rs7451102		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:132271952G>C	ENST00000367976.3	-	2	447	c.247C>G	c.(247-249)Cac>Gac	p.H83D	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	83	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.		H -> D (in dbSNP:rs7451102). {ECO:0000269|PubMed:1293144, ECO:0000269|PubMed:1654338, ECO:0000269|PubMed:9054739, ECO:0000269|Ref.12, ECO:0000269|Ref.4, ECO:0000269|Ref.5, ECO:0000269|Ref.6, ECO:0000269|Ref.7}.		angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GAGCCGAAGTGACAGAATAGG	0.711													C|||	5007	0.9998	1.0	1.0	5008	,	,		8487	1.0		0.999	False		,,,				2504	1.0				p.H83D	Esophageal Squamous(127;510 1660 12817 24400 38449)	.											.	CTGF-90	0			c.C247G						.						7.0	8.0	7.0					6																	132271952		2119	4187	6306	SO:0001583	missense	1490	exon2			CGAAGTGACAGAA	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.247C>G	6.37:g.132271952G>C	ENSP00000356954:p.His83Asp	0	0		6	6	NM_001901	0	0	0	0	0	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	CCDS5151.1	2184	1.0	492	1.0	362	1.0	572	1.0	758	1.0	C	8.018	0.758919	0.15846	.	.	ENSG00000118523	ENST00000367976	T	0.62232	0.04	5.28	5.28	0.74379	Insulin-like growth factor-binding protein, IGFBP (2);	0.048665	0.85682	N	0.000000	T	0.06781	0.0173	N	0.00042	-2.475	0.40675	P	0.017750000000000044	B	0.02656	0.0	B	0.01281	0.0	T	0.27739	-1.0065	9	0.02654	T	1	.	15.7931	0.78384	0.0:0.863:0.137:0.0	rs7451102;rs59294435	83	P29279	CTGF_HUMAN	D	83	ENSP00000356954:H83D	ENSP00000356954:H83D	H	-	1	0	CTGF	132313645	1.000000	0.71417	0.923000	0.36655	0.645000	0.38454	4.000000	0.57039	1.236000	0.43740	-0.293000	0.09583	CAC	G|0.000;C|1.000		0.711	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901	
CTGF	1490	hgsc.bcm.edu	37	6	132271959	132271959	+	Silent	SNP	T	T	G	rs12206231		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:132271959T>G	ENST00000367976.3	-	2	440	c.240A>C	c.(238-240)ctA>ctC	p.L80L	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	80	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		AGTGACAGAATAGGCCCTTGT	0.701													G|||	5008	1.0	1.0	1.0	5008	,	,		8368	1.0		1.0	False		,,,				2504	1.0				p.L80L	Esophageal Squamous(127;510 1660 12817 24400 38449)	.											.	CTGF-90	0			c.A240C						.						7.0	8.0	7.0					6																	132271959		2127	4192	6319	SO:0001819	synonymous_variant	1490	exon2			ACAGAATAGGCCC	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.240A>C	6.37:g.132271959T>G		0	0		6	6	NM_001901	0	0	0	0	0	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Silent	SNP	ENST00000367976.3	37	CCDS5151.1																																																																																			T|0.000;G|1.000		0.701	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901	
CTGF	1490	hgsc.bcm.edu	37	6	132271980	132271980	+	Silent	SNP	T	T	G	rs6934749		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:132271980T>G	ENST00000367976.3	-	2	419	c.219A>C	c.(217-219)ccA>ccC	p.P73P	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	73	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCGGGTCGCATGGGTCGCGCT	0.716													G|||	5008	1.0	1.0	1.0	5008	,	,		7576	1.0		1.0	False		,,,				2504	1.0				p.P73P	Esophageal Squamous(127;510 1660 12817 24400 38449)	.											.	CTGF-90	0			c.A219C						.						6.0	8.0	7.0					6																	132271980		2100	4127	6227	SO:0001819	synonymous_variant	1490	exon2			GTCGCATGGGTCG	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.219A>C	6.37:g.132271980T>G		0	0		4	4	NM_001901	0	0	0	7	7	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Silent	SNP	ENST00000367976.3	37	CCDS5151.1																																																																																			T|0.000;G|1.000		0.716	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901	
MTRF1L	54516	hgsc.bcm.edu	37	6	153323806	153323806	+	Silent	SNP	A	A	G	rs3818126	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:153323806A>G	ENST00000367233.5	-	1	14	c.15T>C	c.(13-15)gtT>gtC	p.V5V	MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367230.1_Silent_p.V5V|MTRF1L_ENST00000367231.5_Silent_p.V5V	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	5						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		CGCCCCACAGAACCCGGGACC	0.692													A|||	1188	0.23722	0.267	0.3012	5008	,	,		9940	0.1498		0.161	False		,,,				2504	0.32				p.V5V		.											.	MTRF1L-90	0			c.T15C						.	A	,	326,1946		13,300,823	1.0	2.0	2.0		15,15	-9.6	0.0	6	dbSNP_107	2	560,4588		15,530,2029	no	coding-synonymous,coding-synonymous	MTRF1L	NM_001114184.1,NM_019041.5	,	28,830,2852	GG,GA,AA		10.878,14.3486,11.9407	,	5/272,5/381	153323806	886,6534	1136	2574	3710	SO:0001819	synonymous_variant	54516	exon1			CCACAGAACCCGG	BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.15T>C	6.37:g.153323806A>G		1	0		9	4	NM_019041	0	0	0	0	0	B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Silent	SNP	ENST00000367233.5	37	CCDS5243.1																																																																																			A|0.800;G|0.200		0.692	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041	
TBP	6908	bcgsc.ca	37	6	170871094	170871094	+	Silent	SNP	G	G	A			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:170871094G>A	ENST00000392092.2	+	3	549	c.270G>A	c.(268-270)caG>caA	p.Q90Q	TBP_ENST00000230354.6_Silent_p.Q90Q|TBP_ENST00000540980.1_Silent_p.Q70Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	90	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.622																																					p.Q90Q		.											.	TBP-91	0			c.G270A						.						22.0	28.0	26.0					6																	170871094		1899	3721	5620	SO:0001819	synonymous_variant	6908	exon3			GCAGCAGCAGCAG	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.270G>A	6.37:g.170871094G>A		48	0		102	9	NM_003194	0	1	75	78	2	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																			.		0.622	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194	
VWDE	221806	broad.mit.edu;bcgsc.ca	37	7	12376811	12376811	+	Missense_Mutation	SNP	A	A	C	rs2192828	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:12376811A>C	ENST00000275358.3	-	25	4642	c.4454T>G	c.(4453-4455)tTc>tGc	p.F1485C		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	1485	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.		F -> C (in dbSNP:rs2192828). {ECO:0000269|PubMed:14702039}.			extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						ACTTTTTTGGAATCTCCTACC	0.393													C|||	3497	0.698283	0.9448	0.7017	5008	,	,		20755	0.6151		0.5885	False		,,,				2504	0.5613				p.F1485C		.											.	VWDE-68	0			c.T4454G						.	C	CYS/PHE	1222,162		539,144,9	198.0	156.0	169.0		4454	4.9	1.0	7	dbSNP_96	169	1802,1380		514,774,303	yes	missense	VWDE	NM_001135924.1	205	1053,918,312	CC,CA,AA		43.369,11.7052,33.7714	benign	1485/1591	12376811	3024,1542	692	1591	2283	SO:0001583	missense	221806	exon25			TTTTGGAATCTCC		CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.4454T>G	7.37:g.12376811A>C	ENSP00000275358:p.Phe1485Cys	177	0		136	6	NM_001135924	0	0	0	0	0	B7ZM77|Q96SQ3	Missense_Mutation	SNP	ENST00000275358.3	37	CCDS47544.1	1539	0.7046703296703297	464	0.943089430894309	254	0.7016574585635359	371	0.6486013986013986	450	0.5936675461741425	C	6.674	0.492883	0.12702	0.882948	0.56631	ENSG00000146530	ENST00000275358;ENST00000536307	T	0.57907	0.37	4.86	4.86	0.63082	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00000	-4.73	0.37090	P	0.10061900000000001	B	0.02656	0.0	B	0.01281	0.0	T	0.50608	-0.8808	9	0.02654	T	1	.	14.8064	0.69959	0.1453:0.8546:0.0:0.0	rs2192828;rs10382186;rs17670328;rs52819048;rs2192828	1485	Q8N2E2	VWDE_HUMAN	C	1485;939	ENSP00000275358:F1485C	ENSP00000275358:F1485C	F	-	2	0	VWDE	12343336	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.640000	0.67875	1.281000	0.44480	-0.127000	0.14921	TTC	A|0.306;C|0.694		0.393	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325870.3	XM_371878	
GARS	2617	hgsc.bcm.edu	37	7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	rs1049402	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000579174.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5.0	8.0	7.0		124	-6.6	0.0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	0	0		6	5	NM_002047	0	0	1	2	1	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	
NT5C3A	51251	ucsc.edu	37	7	33054388	33054388	+	Missense_Mutation	SNP	T	T	C	rs79747830	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:33054388T>C	ENST00000242210.7	-	9	1041	c.965A>G	c.(964-966)gAt>gGt	p.D322G	NT5C3A_ENST00000409467.1_Missense_Mutation_p.D271G|NT5C3A_ENST00000610140.1_Missense_Mutation_p.D317G|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000381626.2_Missense_Mutation_p.D271G|NT5C3A_ENST00000396152.2_Missense_Mutation_p.D283G|NT5C3A_ENST00000405342.1_Missense_Mutation_p.D283G	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	322					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.D322G(1)									TAATGATTCATCTTGTACTAA	0.353																																					p.D322G		.											.	.	1	Substitution - Missense(1)	skin(1)	c.A965G						.						103.0	105.0	104.0					7																	33054388		2203	4298	6501	SO:0001583	missense	0	exon9			GATTCATCTTGTA	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.965A>G	7.37:g.33054388T>C	ENSP00000242210:p.Asp322Gly	48	2		68	15	NM_001002010	0	0	27	27	0	A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714928	0.89112	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	5.94	5.94	0.96194	HAD-like domain (1);	0.323125	0.35646	N	0.003065	D	0.95564	0.8558	M	0.93197	3.39	0.80722	D	1	P;P	0.50369	0.934;0.553	P;P	0.60949	0.881;0.531	D	0.96469	0.9347	10	0.87932	D	0	.	16.4075	0.83691	0.0:0.0:0.0:1.0	.	322;283	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	G	271;283;322;283;271	ENSP00000371039:D271G;ENSP00000379456:D283G;ENSP00000242210:D322G;ENSP00000385261:D283G;ENSP00000387166:D271G	ENSP00000242210:D322G	D	-	2	0	NT5C3	33020913	1.000000	0.71417	0.960000	0.40013	0.989000	0.77384	8.040000	0.89188	2.275000	0.75901	0.528000	0.53228	GAT	T|0.969;C|0.031		0.353	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489	
MYO1G	64005	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	45009379	45009387	+	In_Frame_Del	DEL	GCCAGCAGA	GCCAGCAGA	-			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	GCCAGCAGA	GCCAGCAGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:45009379_45009387delGCCAGCAGA	ENST00000258787.7	-	11	1556_1564	c.1420_1428delTCTGCTGGC	c.(1420-1428)tctgctggcdel	p.SAG474del		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	474	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGTGATGGTGCCAGCAGAGCTGCAGGCC	0.632																																					p.474_476del		.											.	MYO1G-137	0			c.1420_1428del						.																																			SO:0001651	inframe_deletion	64005	exon11			GATGGTGCCAGCA	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1420_1428delTCTGCTGGC	7.37:g.45009379_45009387delGCCAGCAGA	ENSP00000258787:p.Ser474_Gly476del	77	0		126	38	NM_033054	0	0	0	0	0	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	In_Frame_Del	DEL	ENST00000258787.7	37	CCDS34629.1																																																																																			.		0.632	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2		
AUTS2	26053	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	70227999	70227999	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:70227999A>G	ENST00000342771.4	+	7	1207	c.886A>G	c.(886-888)Aaa>Gaa	p.K296E	AUTS2_ENST00000406775.2_Missense_Mutation_p.K296E	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	296										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGTGGTGCTTAAAGACCCCTG	0.592																																					p.K296E		.											.	AUTS2-92	0			c.A886G						.						100.0	100.0	100.0					7																	70227999		2203	4300	6503	SO:0001583	missense	26053	exon7			GTGCTTAAAGACC	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.886A>G	7.37:g.70227999A>G	ENSP00000344087:p.Lys296Glu	101	1		106	57	NM_001127231	0	0	0	0	0	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104777	0.77096	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.32515	1.45;1.47	5.47	4.24	0.50183	.	0.554256	0.19262	N	0.118646	T	0.21962	0.0529	L	0.29908	0.895	0.80722	D	1	B;B	0.28291	0.206;0.206	B;B	0.28011	0.085;0.085	T	0.05007	-1.0912	9	.	.	.	-12.0518	11.7178	0.51663	0.7382:0.2618:0.0:0.0	.	296;296	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	E	296	ENSP00000385263:K296E;ENSP00000344087:K296E	.	K	+	1	0	AUTS2	69865935	0.992000	0.36948	0.999000	0.59377	0.977000	0.68977	3.037000	0.49775	2.069000	0.61940	0.455000	0.32223	AAA	.		0.592	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		
STEAP1	26872	ucsc.edu	37	7	89790570	89790570	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:89790570G>C	ENST00000297205.2	+	3	736	c.536G>C	c.(535-537)aGt>aCt	p.S179T	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	179	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GCAATTTATAGTCTGTCTTAC	0.378																																					p.S179T		.											.	STEAP1-522	0			c.G536C						.						103.0	87.0	92.0					7																	89790570		2203	4299	6502	SO:0001583	missense	26872	exon3			TTTATAGTCTGTC	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.536G>C	7.37:g.89790570G>C	ENSP00000297205:p.Ser179Thr	126	3		117	16	NM_012449	0	0	2	2	0	A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	G	7.824	0.718340	0.15372	.	.	ENSG00000164647	ENST00000297205	D	0.90324	-2.65	5.15	4.28	0.50868	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.83216	0.5206	N	0.25245	0.725	0.44780	D	0.997787	B;P	0.36753	0.01;0.568	B;B	0.33568	0.027;0.166	T	0.81189	-0.1046	10	0.24483	T	0.36	-9.4825	16.0075	0.80372	0.0:0.1348:0.8652:0.0	.	179;179	B4E221;Q9UHE8	.;STEA1_HUMAN	T	179	ENSP00000297205:S179T	ENSP00000297205:S179T	S	+	2	0	STEAP1	89628506	1.000000	0.71417	0.579000	0.28588	0.356000	0.29392	8.879000	0.92398	1.416000	0.47057	-0.218000	0.12543	AGT	.		0.378	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449	
LRCH4	4034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	100175783	100175783	+	Splice_Site	SNP	T	T	A			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:100175783T>A	ENST00000310300.6	-	7	999	c.947A>T	c.(946-948)gAg>gTg	p.E316V	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	316					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCCCTTACCTCATTTCCAGA	0.587																																					p.E316V		.											.	LRCH4-136	0			c.A947T						.						149.0	110.0	124.0					7																	100175783		2203	4300	6503	SO:0001630	splice_region_variant	4034	exon7			CTTACCTCATTTC	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.948+1A>T	7.37:g.100175783T>A		111	0		124	12	NM_002319	0	0	6	13	7	A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	t	24.7	4.560945	0.86335	.	.	ENSG00000077454	ENST00000310300	T	0.49139	0.79	5.46	5.46	0.80206	.	0.056455	0.64402	D	0.000001	T	0.65842	0.2730	M	0.77616	2.38	0.80722	D	1	D	0.67145	0.996	P	0.60949	0.881	T	0.71130	-0.4682	10	0.87932	D	0	-25.7153	13.53	0.61617	0.0:0.0:0.0:1.0	.	316	O75427	LRCH4_HUMAN	V	316	ENSP00000309689:E316V	ENSP00000309689:E316V	E	-	2	0	LRCH4	100013719	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.689000	0.84165	2.092000	0.63282	0.440000	0.28878	GAG	.		0.587	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319	Missense_Mutation
DGKI	9162	bcgsc.ca	37	7	137304602	137304602	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:137304602G>T	ENST00000288490.5	-	8	961	c.961C>A	c.(961-963)Ccc>Acc	p.P321T	DGKI_ENST00000446122.1_Missense_Mutation_p.P321T|DGKI_ENST00000424189.2_Missense_Mutation_p.P321T|DGKI_ENST00000453654.2_Missense_Mutation_p.P21T	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	321					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCCAAGTGGGCGGGACAATA	0.488																																					p.P321T		.											.	DGKI-228	0			c.C961A						.						117.0	115.0	116.0					7																	137304602		2203	4300	6503	SO:0001583	missense	9162	exon8			AAGTGGGCGGGAC	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.961C>A	7.37:g.137304602G>T	ENSP00000288490:p.Pro321Thr	73	0		59	4	NM_004717	0	0	0	0	0	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052329	0.93793	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.67171	0.06;-0.25;-0.05	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84563	0.0651	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	21;321	E9PFX6;O75912	.;DGKI_HUMAN	T	21;269;321;321;321	ENSP00000392161:P21T;ENSP00000288490:P321T;ENSP00000399131:P321T	ENSP00000288490:P321T	P	-	1	0	DGKI	136955142	1.000000	0.71417	0.986000	0.45419	0.950000	0.60333	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	CCC	.		0.488	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	
NOM1	64434	hgsc.bcm.edu	37	7	156742501	156742501	+	Missense_Mutation	SNP	C	C	G	rs6969990	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:156742501C>G	ENST00000275820.3	+	1	85	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	24	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		R -> G (in dbSNP:rs6969990).			nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCGCATGAAGCGCAGAggcgg	0.721													.|||	1013	0.202276	0.2042	0.2392	5008	,	,		7202	0.2778		0.1511	False		,,,				2504	0.1483				p.R24G		.											.	NOM1-90	0			c.C70G						.	C	GLY/ARG	460,2914		22,416,1249	3.0	4.0	3.0		70	4.4	0.0	7	dbSNP_116	3	715,6171		26,663,2754	no	missense	NOM1	NM_138400.1	125	48,1079,4003	GG,GC,CC		10.3834,13.6337,11.4522	probably-damaging	24/861	156742501	1175,9085	1687	3443	5130	SO:0001583	missense	64434	exon1			ATGAAGCGCAGAG	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.70C>G	7.37:g.156742501C>G	ENSP00000275820:p.Arg24Gly	0	0		11	10	NM_138400	0	0	0	0	0	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	459	0.21016483516483517	100	0.2032520325203252	69	0.19060773480662985	164	0.2867132867132867	126	0.1662269129287599	C	17.33	3.362797	0.61403	0.136337	0.103834	ENSG00000146909	ENST00000275820	T	0.13307	2.6	4.36	4.36	0.52297	.	1.850510	0.03172	N	0.170899	T	0.00012	0.0000	L	0.27053	0.805	0.58432	P	9.99999999995449E-6	D	0.64830	0.994	P	0.54924	0.764	T	0.39603	-0.9606	9	0.87932	D	0	-1.3828	15.9395	0.79743	0.0:1.0:0.0:0.0	rs6969990;rs6969990	24	Q5C9Z4	NOM1_HUMAN	G	24	ENSP00000275820:R24G	ENSP00000275820:R24G	R	+	1	0	NOM1	156435262	0.939000	0.31865	0.023000	0.16930	0.179000	0.23085	3.589000	0.53972	1.979000	0.57680	0.306000	0.20318	CGC	C|0.663;G|0.337		0.721	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
UBE3C	9690	hgsc.bcm.edu	37	7	157013436	157013436	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:157013436G>T	ENST00000348165.5	+	15	2328	c.1968G>T	c.(1966-1968)atG>atT	p.M656I		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	656					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCCGGCGGATGGGGAGGATAG	0.542																																					p.M656I		.											.	UBE3C-704	0			c.G1968T						.						104.0	86.0	92.0					7																	157013436		2203	4300	6503	SO:0001583	missense	9690	exon15			GCGGATGGGGAGG	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1968G>T	7.37:g.157013436G>T	ENSP00000309198:p.Met656Ile	66	0		66	4	NM_014671	0	0	1	1	0	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260153	0.80246	.	.	ENSG00000009335	ENST00000348165	T	0.40756	1.02	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	M	0.63428	1.95	0.80722	D	1	P	0.37781	0.608	B	0.36134	0.218	T	0.30822	-0.9965	10	0.14656	T	0.56	.	19.1126	0.93323	0.0:0.0:1.0:0.0	.	656	Q15386	UBE3C_HUMAN	I	656	ENSP00000309198:M656I	ENSP00000309198:M656I	M	+	3	0	UBE3C	156706197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.155000	0.77445	2.591000	0.87537	0.655000	0.94253	ATG	.		0.542	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
GPR124	25960	broad.mit.edu	37	8	37698805	37698805	+	Silent	SNP	C	C	A			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr8:37698805C>A	ENST00000412232.2	+	19	2962	c.2949C>A	c.(2947-2949)ggC>ggA	p.G983G	GPR124_ENST00000315215.7_Silent_p.G766G	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	983					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGGGCAGCGGCCCCCTCCTGA	0.687																																					p.G983G		.											.	GPR124-157	0			c.C2949A						.						21.0	26.0	24.0					8																	37698805		2203	4296	6499	SO:0001819	synonymous_variant	25960	exon19			CAGCGGCCCCCTC	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2949C>A	8.37:g.37698805C>A		24	0		49	6	NM_032777	0	0	2	2	0	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2																																																																																			.		0.687	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2		
GPR124	25960	hgsc.bcm.edu	37	8	37699516	37699516	+	Silent	SNP	C	C	T	rs7010546	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr8:37699516C>T	ENST00000412232.2	+	19	3673	c.3660C>T	c.(3658-3660)ggC>ggT	p.G1220G	GPR124_ENST00000315215.7_Silent_p.G1003G	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1220					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCGAGAGCGGCAGTCTGCACA	0.746													C|||	2324	0.464058	0.3048	0.5144	5008	,	,		7503	0.6716		0.4165	False		,,,				2504	0.4785				p.G1220G		.											.	GPR124-157	0			c.C3660T						.	C		594,1854		106,382,736	2.0	3.0	2.0		3660	3.1	1.0	8	dbSNP_116	2	1524,3502		291,942,1280	no	coding-synonymous	GPR124	NM_032777.9		397,1324,2016	TT,TC,CC		30.3223,24.2647,28.3382		1220/1339	37699516	2118,5356	1224	2513	3737	SO:0001819	synonymous_variant	25960	exon19			GAGCGGCAGTCTG	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.3660C>T	8.37:g.37699516C>T		0	0		5	5	NM_032777	0	0	0	0	0	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2	1050	0.4807692307692308	166	0.33739837398373984	169	0.46685082872928174	397	0.6940559440559441	318	0.41952506596306066	C	4.050	0.006880	0.07866	0.242647	0.303223	ENSG00000020181	ENST00000416514	.	.	.	3.95	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999997394	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-18.0593	4.3087	0.10960	0.1378:0.5532:0.2174:0.0916	rs7010546;rs59434562;rs7010546	.	.	.	X	1213	.	ENSP00000405145:Q1213X	Q	+	1	0	GPR124	37818674	0.843000	0.29541	1.000000	0.80357	0.388000	0.30384	-0.114000	0.10757	0.874000	0.35823	0.313000	0.20887	CAG	C|0.479;G|0.000;T|0.520		0.746	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2		
EPPK1	83481	bcgsc.ca	37	8	144940290	144940290	+	Missense_Mutation	SNP	C	C	G	rs201976887		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr8:144940290C>G	ENST00000525985.1	-	2	7203	c.7132G>C	c.(7132-7134)Gac>Cac	p.D2378H				P58107	EPIPL_HUMAN	epiplakin 1	2378						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGCTGGGGTCGGCCAGGACG	0.682																																					p.D2378H		.											.	EPPK1-25	0			c.G7132C						.	C	HIS/ASP	51,4341	20.2+/-43.8	0,51,2145	315.0	292.0	300.0		7132	3.6	0.8	8		300	22,8530	7.1+/-27.0	0,22,4254	no	missense	EPPK1	NM_031308.1	81	0,73,6399	GG,GC,CC		0.2572,1.1612,0.564	probably-damaging	2378/2420	144940290	73,12871	2196	4276	6472	SO:0001583	missense	83481	exon1			TGGGGTCGGCCAG	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7132G>C	8.37:g.144940290C>G	ENSP00000436337:p.Asp2378His	68	0		442	29	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	22.4	4.279155	0.80692	0.011612	0.002572	ENSG00000227184	ENST00000525985	T	0.74737	-0.87	4.43	3.56	0.40772	.	.	.	.	.	D	0.83133	0.5188	M	0.89785	3.06	0.42176	D	0.991666	D	0.89917	1.0	D	0.91635	0.999	D	0.86316	0.1689	9	0.62326	D	0.03	.	10.4012	0.44231	0.0:0.9038:0.0:0.0962	.	2378	E9PPU0	.	H	2378	ENSP00000436337:D2378H	ENSP00000436337:D2378H	D	-	1	0	EPPK1	145012278	1.000000	0.71417	0.773000	0.31616	0.942000	0.58702	7.555000	0.82223	1.223000	0.43536	0.591000	0.81541	GAC	.		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
EPPK1	83481	hgsc.bcm.edu	37	8	144940543	144940543	+	Silent	SNP	G	G	A	rs369151354		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr8:144940543G>A	ENST00000525985.1	-	2	6950	c.6879C>T	c.(6877-6879)ggC>ggT	p.G2293G				P58107	EPIPL_HUMAN	epiplakin 1	2293						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATCTCGCCGCCCACCACGC	0.706																																					p.G2293G		.											.	EPPK1-25	0			c.C6879T						.	G		0,4344		0,0,2172	84.0	83.0	83.0		6879	1.6	1.0	8		83	1,8501		0,1,4250	no	coding-synonymous	EPPK1	NM_031308.1		0,1,6422	AA,AG,GG		0.0118,0.0,0.0078		2293/2420	144940543	1,12845	2172	4251	6423	SO:0001819	synonymous_variant	83481	exon1			CTCGCCGCCCACC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6879C>T	8.37:g.144940543G>A		5	0		111	13	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				.		0.706	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
DMRT1	1761	hgsc.bcm.edu	37	9	841971	841971	+	Missense_Mutation	SNP	T	T	A	rs3739583	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr9:841971T>A	ENST00000382276.3	+	1	282	c.133T>A	c.(133-135)Tcg>Acg	p.S45T	DMRT1_ENST00000569227.1_5'Flank	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	45			S -> T (in dbSNP:rs3739583). {ECO:0000269|PubMed:10332030, ECO:0000269|PubMed:10857744, ECO:0000269|PubMed:16617334}.		cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GGCCAGCGGCTCGAGCGCCGG	0.756													T|||	1125	0.224641	0.0923	0.2017	5008	,	,		10887	0.4722		0.1223	False		,,,				2504	0.2699				p.S45T		.											.	DMRT1-515	0			c.T133A						.	T	THR/SER	381,3479		16,349,1565	4.0	5.0	5.0		133	-1.9	0.0	9	dbSNP_107	5	945,6747		48,849,2949	no	missense	DMRT1	NM_021951.2	58	64,1198,4514	AA,AT,TT		12.2855,9.8705,11.4785	benign	45/374	841971	1326,10226	1930	3846	5776	SO:0001583	missense	1761	exon1			AGCGGCTCGAGCG	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.133T>A	9.37:g.841971T>A	ENSP00000371711:p.Ser45Thr	1	0		8	6	NM_021951	0	0	0	0	0	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	CCDS6442.1	482	0.2206959706959707	65	0.13211382113821138	69	0.19060773480662985	259	0.4527972027972028	89	0.11741424802110818	t	3.227	-0.158317	0.06544	0.098705	0.122855	ENSG00000137090	ENST00000451501;ENST00000382276	T	0.18338	2.22	3.29	-1.87	0.07737	.	4.016930	0.01046	N	0.004398	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.16166	0.016	B	0.12156	0.007	T	0.46816	-0.9164	9	0.11485	T	0.65	.	2.6176	0.04907	0.219:0.1045:0.4923:0.1842	rs3739583;rs3739583	45	Q9Y5R6	DMRT1_HUMAN	T	45	ENSP00000371711:S45T	ENSP00000371711:S45T	S	+	1	0	DMRT1	831971	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.700000	0.05081	-0.232000	0.09811	0.454000	0.30748	TCG	T|0.317;A|0.683		0.756	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951	
UBAP2	55833	bcgsc.ca	37	9	33941759	33941759	+	Missense_Mutation	SNP	T	T	C	rs307658	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr9:33941759T>C	ENST00000379238.1	-	16	1934	c.1817A>G	c.(1816-1818)aAt>aGt	p.N606S	UBAP2_ENST00000418786.2_Missense_Mutation_p.N553S|UBAP2_ENST00000539807.1_Missense_Mutation_p.N361S|UBAP2_ENST00000379225.1_Missense_Mutation_p.N239S|UBAP2_ENST00000379239.4_Missense_Mutation_p.N339S|UBAP2_ENST00000360802.1_Missense_Mutation_p.N606S|UBAP2_ENST00000449054.1_Missense_Mutation_p.N606S					ubiquitin associated protein 2									p.N606S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTAGCAGAATTCAGTGATGA	0.448													C|||	1857	0.370807	0.5083	0.268	5008	,	,		18167	0.1726		0.3837	False		,,,				2504	0.4489				p.N606S		.											.	UBAP2-94	1	Substitution - Missense(1)	stomach(1)	c.A1817G						.	C	SER/ASN	2060,2346	607.3+/-390.9	478,1104,621	174.0	159.0	164.0		1817	5.8	1.0	9	dbSNP_79	164	3291,5309	646.8+/-400.3	648,1995,1657	yes	missense	UBAP2	NM_018449.2	46	1126,3099,2278	CC,CT,TT		38.2674,46.7544,41.1425	benign	606/1120	33941759	5351,7655	2203	4300	6503	SO:0001583	missense	55833	exon16			GCAGAATTCAGTG	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1817A>G	9.37:g.33941759T>C	ENSP00000368540:p.Asn606Ser	163	0		145	5	NM_018449	0	0	1	1	0		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	778	0.35622710622710624	248	0.5040650406504065	106	0.292817679558011	114	0.1993006993006993	310	0.40897097625329815	C	1.094	-0.663234	0.03428	0.467544	0.382674	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225	T;T;T;T;T;T;T	0.20738	2.79;2.79;2.79;2.58;2.59;2.28;2.05	5.76	5.76	0.90799	.	0.521330	0.23587	N	0.046596	T	0.00012	0.0000	N	0.01015	-1.05	0.58432	P	4.000000000004E-6	B;B;B;B;B;B;B;B	0.17038	0.0;0.006;0.0;0.0;0.0;0.001;0.003;0.02	B;B;B;B;B;B;B;B	0.06405	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.002	T	0.41124	-0.9526	9	0.02654	T	1	-4.2248	12.9291	0.58276	0.0:0.866:0.0:0.134	rs307658;rs601694;rs1626808;rs52833981;rs60695207;rs307658	553;531;361;339;515;239;531;606	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;A2A306;B4DH66;Q5T6F2	.;.;.;.;.;.;.;UBAP2_HUMAN	S	606;606;606;515;339;361;553;239	ENSP00000368540:N606S;ENSP00000416932:N606S;ENSP00000354039:N606S;ENSP00000368541:N339S;ENSP00000439329:N361S;ENSP00000404436:N553S;ENSP00000368527:N239S	ENSP00000354039:N606S	N	-	2	0	UBAP2	33931759	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	2.117000	0.41939	1.449000	0.47699	-0.119000	0.15052	AAT	T|0.481;G|0.077		0.448	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449	
FGD3	89846	bcgsc.ca	37	9	95738781	95738781	+	Silent	SNP	C	C	A	rs3802381	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr9:95738781C>A	ENST00000375482.3	+	3	739	c.243C>A	c.(241-243)ccC>ccA	p.P81P	FGD3_ENST00000416701.2_Silent_p.P81P|FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000337352.6_Silent_p.P81P	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	81					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TCGACAGTCCCTCCTCCAGTG	0.647													A|||	2995	0.598043	0.5832	0.6239	5008	,	,		17539	0.5079		0.6064	False		,,,				2504	0.684				p.P81P		.											.	FGD3-228	0			c.C243A						.	A	,	2407,1537		734,939,299	22.0	28.0	26.0		243,243	-9.0	0.5	9	dbSNP_107	26	4989,3317		1519,1951,683	no	coding-synonymous,coding-synonymous	FGD3	NM_001083536.1,NM_033086.2	,	2253,2890,982	AA,AC,CC		39.935,38.9706,39.6245	,	81/726,81/726	95738781	7396,4854	1972	4153	6125	SO:0001819	synonymous_variant	89846	exon3			CAGTCCCTCCTCC	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.243C>A	9.37:g.95738781C>A		108	2		168	6	NM_001083536	0	0	0	0	0	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	CCDS43849.1																																																																																			C|0.385;A|0.615		0.647	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086	
PTPDC1	138639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	96846961	96846961	+	Intron	SNP	A	A	T			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr9:96846961A>T	ENST00000375360.3	+	3	422				PTPDC1_ENST00000288976.3_Missense_Mutation_p.K50M	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1						cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TCTGCCACGAAGCTGCTGTCC	0.617																																					p.K50M		.											.	PTPDC1-227	0			c.A149T						.						57.0	53.0	54.0					9																	96846961		2203	4300	6503	SO:0001627	intron_variant	138639	exon1			CCACGAAGCTGCT	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.83-572A>T	9.37:g.96846961A>T		57	0		124	18	NM_152422	0	0	0	0	0	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.058080	0.36277	.	.	ENSG00000158079	ENST00000288976	T	0.13196	2.61	5.97	2.34	0.29019	.	0.714168	0.12673	N	0.448632	T	0.15696	0.0378	N	0.22421	0.69	0.09310	N	1	D;D	0.61080	0.98;0.989	P;P	0.53593	0.541;0.73	T	0.15521	-1.0434	10	0.54805	T	0.06	-0.2566	9.5369	0.39229	0.8083:0.0:0.1917:0.0	.	50;50	E7EN59;A2A3K4-2	.;.	M	50	ENSP00000288976:K50M	ENSP00000288976:K50M	K	+	2	0	PTPDC1	95886782	0.997000	0.39634	0.000000	0.03702	0.600000	0.36913	4.250000	0.58772	0.150000	0.19136	0.482000	0.46254	AAG	.		0.617	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422	
LHX3	8022	hgsc.bcm.edu	37	9	139096812	139096812	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr9:139096812G>A	ENST00000371748.5	-	1	143	c.47C>T	c.(46-48)gCc>gTc	p.A16V	LHX3_ENST00000371746.3_5'Flank	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	16					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GACGGCGGCGGCCCCGGGCCT	0.726																																					p.A16V		.											.	LHX3-91	0			c.C47T						.						10.0	12.0	11.0					9																	139096812		2160	4227	6387	SO:0001583	missense	8022	exon1			GCGGCGGCCCCGG	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.47C>T	9.37:g.139096812G>A	ENSP00000360813:p.Ala16Val	0	0		42	33	NM_178138	0	0	0	0	0	Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	G	9.569	1.120548	0.20877	.	.	ENSG00000107187	ENST00000371748	D	0.88354	-2.37	2.48	1.57	0.23409	.	.	.	.	.	T	0.77198	0.4095	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61850	-0.6978	9	0.27785	T	0.31	.	4.6055	0.12376	0.3128:0.0:0.6872:0.0	.	16	Q9UBR4	LHX3_HUMAN	V	16	ENSP00000360813:A16V	ENSP00000360813:A16V	A	-	2	0	LHX3	138236633	0.000000	0.05858	0.012000	0.15200	0.025000	0.11179	-0.132000	0.10467	0.610000	0.30035	0.484000	0.47621	GCC	.		0.726	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3		
MXRA5	25878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	3240298	3240298	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chrX:3240298C>G	ENST00000217939.6	-	5	3582	c.3428G>C	c.(3427-3429)aGc>aCc	p.S1143T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1143						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGGTGAGTGCTCATGGTGGA	0.532																																					p.S1143T		.											.	MXRA5-136	0			c.G3428C						.						109.0	99.0	102.0					X																	3240298		2203	4300	6503	SO:0001583	missense	25878	exon5			TGAGTGCTCATGG	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3428G>C	X.37:g.3240298C>G	ENSP00000217939:p.Ser1143Thr	139	0		119	55	NM_015419	0	0	0	0	0	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.730264	0.00687	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.61980	0.06	3.31	0.902	0.19290	.	1.510850	0.04597	N	0.397886	T	0.26738	0.0654	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34775	-0.9815	10	0.06891	T	0.86	.	2.1143	0.03710	0.3753:0.3272:0.2975:0.0	.	1143	Q9NR99	MXRA5_HUMAN	T	1143	ENSP00000217939:S1143T	ENSP00000217939:S1143T	S	-	2	0	MXRA5	3250298	0.753000	0.28349	0.014000	0.15608	0.007000	0.05969	1.048000	0.30379	0.417000	0.25871	-0.286000	0.09958	AGC	.		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
RBMXL3	139804	broad.mit.edu;bcgsc.ca	37	X	114426765	114426765	+	Missense_Mutation	SNP	C	C	T	rs11795689		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chrX:114426765C>T	ENST00000424776.3	+	1	2803	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	921	Gly-rich.			P -> S (in Ref. 1; BAG63332). {ECO:0000305}.			nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						AGGCCGCTCGCCCAATGCCTA	0.637													C|||	251	0.0664901	0.0083	0.0562	3775	,	,		11962	0.0764		0.0746	False		,,,				2504	0.0501				p.P921S		.											.	.	0			c.C2761T						.	C	SER/PRO,	19,1190		0,15,4,502,171	17.0	18.0	17.0		2761,	0.2	0.0	X	dbSNP_120	17	245,2145		10,147,78,643,712	yes	missense,intron	LRCH2,RBMXL3	NM_001145346.1,NM_020871.3	74,	10,162,82,1145,883	TT,TC,T,CC,C		10.251,1.5715,7.3354	possibly-damaging,	921/1068,	114426765	264,3335	692	1590	2282	SO:0001583	missense	139804	exon1			CGCTCGCCCAATG	AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.2761C>T	X.37:g.114426765C>T	ENSP00000417451:p.Pro921Ser	68	0		181	6	NM_001145346	0	0	0	0	0	B4DXC0	Missense_Mutation	SNP	ENST00000424776.3	37	CCDS55478.1	128	0.07715491259795057	4	0.00816326530612245	10	0.028409090909090908	32	0.06037735849056604	41	0.05631868131868132	C	10.61	1.397555	0.25205	0.015715	0.10251	ENSG00000175718	ENST00000424776	T	0.06294	3.32	0.149	0.149	0.14863	.	.	.	.	.	T	0.00210	0.0006	N	0.08118	0	0.80722	P	0.0	D	0.57571	0.98	P	0.59424	0.857	T	0.41662	-0.9496	8	0.87932	D	0	.	5.9897	0.19454	0.0:0.9994:0.0:6.0E-4	rs11795689	921	Q8N7X1	RMXL3_HUMAN	S	921	ENSP00000417451:P921S	ENSP00000417451:P921S	P	+	1	0	RBMXL3	114333021	0.078000	0.21339	0.009000	0.14445	0.010000	0.07245	0.903000	0.28475	0.177000	0.19895	0.179000	0.17066	CCC	C|0.923;T|0.077		0.637	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057968.3	NM_001145346	
SPRY3	10251	bcgsc.ca	37	X	155004280	155004280	+	Silent	SNP	A	A	G			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chrX:155004280A>G	ENST00000302805.2	+	2	1178	c.747A>G	c.(745-747)caA>caG	p.Q249Q		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	249	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCTGTGCCAACAGGGCTATG	0.592													A|||	970	0.19369	0.2489	0.1744	5008	,	,		20237	0.0179		0.2992	False		,,,				2504	0.2055				p.Q249Q		.											.	SPRY3-136	0			c.A747G						.	A		1040,3366		132,776,1295	207.0	192.0	197.0		747	2.0	1.0	X	dbSNP_134	197	2390,6202		328,1734,2234	no	coding-synonymous	SPRY3	NM_005840.1		460,2510,3529	GG,GA,AA		27.8166,23.6042,26.3887		249/289	155004280	3430,9568	2203	4296	6499	SO:0001819	synonymous_variant	10251	exon2			GTGCCAACAGGGC	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.747A>G	X.37:g.155004280A>G		169	0		156	6	NM_005840	0	0	0	0	0	A8K0H8	Silent	SNP	ENST00000302805.2	37	CCDS14769.4																																																																																			A|0.771;G|0.229		0.592	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840	
CELSR2	1952	hgsc.bcm.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	-	CGC	rs377757908|rs59201433|rs144034706	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:109792735_109792736insCGC	ENST00000271332.3	+	1	95_96	c.34_35insCGC	c.(34-36)acg>aCGCcg	p.16_17insP		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	16					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCTCCCAACgccgccgccg	0.752														2846	0.568291	0.4198	0.6311	5008	,	,		10222	0.5298		0.7276	False		,,,				2504	0.6002				p.T12delinsTP	NSCLC(158;1285 2011 34800 34852 42084)	.											.	CELSR2-526	0			c.34_35insCGC						.			1363,1439		473,417,511						3.0	0.1		dbSNP_130	6	4135,1897		1679,777,560	no	coding	CELSR2	NM_001408.2		2152,1194,1071	A1A1,A1R,RR		31.4489,48.6438,37.7632				5498,3336				SO:0001652	inframe_insertion	1952	exon1			CTCCCAACGCCGC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.47_49dupCGC	1.37:g.109792742_109792744dupCGC	ENSP00000271332:p.Pro16_Pro16dup	0	0		10	10	NM_001408	0	0	0	0	0	Q5T2Y7|Q92566	In_Frame_Ins	INS	ENST00000271332.3	37	CCDS796.1																																																																																			-|0.389;CGC|0.611		0.752	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
KRTAP4-3	85290	broad.mit.edu;bcgsc.ca	37	17	39324229	39324230	+	In_Frame_Ins	INS	-	-	GCAGCAGGTGGTCAG	rs58564583|rs369617852	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:39324229_39324230insGCAGCAGGTGGTCAG	ENST00000391356.2	-	1	194_195	c.195_196insCTGACCACCTGCTGC	c.(193-198)tgcagg>tgcCTGACCACCTGCTGCagg	p.64_65insCLTTC		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	64	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].		C -> CCCLTTCCRTTCCRPSCCISSCCRPSCCISSCCKPS (in allele KAP3-v1).		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			caggtggtcctgcagcagctgg	0.629																																					p.R66delinsLTTCCR		.											.	KRTAP4-3-22	0			c.196_197insCTGACCACCTGCTGC						.			169,589,1746		24,2,119,170,247,690						-9.3	0.0		dbSNP_134	4	951,38,4927		39,1,872,6,25,2015	no	codingComplex	KRTAP4-3	NM_033187.1		63,3,991,176,272,2705	A1A1,A1A2,A1R,A2A2,A2R,RR		16.7174,30.2716,20.7482				1120,627,6673				SO:0001652	inframe_insertion	85290	exon1			TGGTCCTGCAGCA	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"""Keratin associated proteins"""	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.195_196insCTGACCACCTGCTGC	17.37:g.39324229_39324230insGCAGCAGGTGGTCAG	ENSP00000375151:p.Cys64_Cys65insCysLeuThrThrCys	147	0		353	80	NM_033187	0	0	0	0	0		In_Frame_Ins	INS	ENST00000391356.2	37	CCDS42331.1																																																																																			.		0.629	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1		
SHANK1	50944	broad.mit.edu	37	19	51165375	51165376	+	Frame_Shift_Ins	INS	-	-	C	rs199962734|rs146869643		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:51165375_51165376insC	ENST00000293441.1	-	23	6350_6351	c.6332_6333insG	c.(6331-6333)ggtfs	p.G2111fs	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.G2102fs|SHANK1_ENST00000483981.2_5'Flank|SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.G2119fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.G1498fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2111	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCTCCGCCAAACCCAGCCACTC	0.639																																					p.G2111fs		.											.	SHANK1-153	0			c.6333_6334insG						.																																			SO:0001589	frameshift_variant	50944	exon23			CGCCAAACCCAGC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6333dupG	19.37:g.51165378_51165378dupC	ENSP00000293441:p.Gly2111fs	172	0		240	8	NM_016148	0	0	0	0	0	A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Ins	INS	ENST00000293441.1	37	CCDS12799.1																																																																																			.		0.639	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
SPATA31C1	441452	hgsc.bcm.edu	37	9	90534192	90534193	+	RNA	INS	-	-	TCTTGTCTCCCAGCGTCA	rs567658963|rs536300617	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr9:90534192_90534193insTCTTGTCTCCCAGCGTCA	ENST00000602681.1	+	0	938_939							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCCAGCGTCATCTTGTCTCCC	0.594																																					p.H71delinsHLVSQRH		.											.	.	0			c.212_213insTCTTGTCTCCCAGCGTCA						.																																					441452	exon2			AGCGTCATCTTGT	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534192_90534193insTCTTGTCTCCCAGCGTCA		493	0		429	0	NM_001145124	0	0	0	0	0		In_Frame_Ins	INS	ENST00000602681.1	37																																																																																				.		0.594	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124	
PRAMEF2	65122	bcgsc.ca	37	1	12919623	12919624	+	Missense_Mutation	DNP	CC	CC	TG	rs80027487|rs75838083	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:12919623_12919624CC>TG	ENST00000240189.2	+	3	450_451	c.363_364CC>TG	c.(361-366)gcCCtg>gcTGtg	p.L122V		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	122					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCTGGGCCCTGTCCTGCTT	0.55																																					p.L122V		.											.	PRAMEF2-68	0			c.C364G						.																																			SO:0001583	missense	65122	exon3			TGGGCCCTGTCCT		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	Exception_encountered	1.37:g.12919623_12919624delinsTG	ENSP00000240189:p.Leu122Val	279	0		289	0	NM_023014	0	0	0	0	0		Missense_Mutation	DNP	ENST00000240189.2	37	CCDS149.1																																																																																			C|0.896;G|0.104		0.550	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014	
AKR7L	246181	bcgsc.ca	37	1	19600376	19600377	+	RNA	DNP	TT	TT	GC	rs565823852|rs539454439	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:19600376_19600377TT>GC	ENST00000429712.1	-	0	311_312				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTGCTGCCCATTCGGAGCCCCA	0.673																																					.		.											.	AKR7L-90	0			.						.																																					246181	.			GCCCATTCGGAGC			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520	ENST00000429712.1:c.192_193delinsGC	1.37:g.19600376_19600377delinsGC		46	0		188	0	.	0	0	0	0	0	Q5U614	RNA	DNP	ENST00000429712.1	37																																																																																				.		0.673	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252	
